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Genomic newborn screening: BabyScreen+ v1.116 RMRP Zornitza Stark Tag non-coding gene tag was added to gene: RMRP.
Genomic newborn screening: BabyScreen+ v1.116 TERC Zornitza Stark Tag non-coding gene tag was added to gene: TERC.
Genomic newborn screening: BabyScreen+ v1.116 H19 Zornitza Stark Tag non-coding gene tag was added to gene: H19.
Genomic newborn screening: BabyScreen+ v1.114 GCH1 Lilian Downie Mode of inheritance for gene: GCH1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.111 ELANE Zornitza Stark Mode of pathogenicity for gene: ELANE was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Genomic newborn screening: BabyScreen+ v1.109 TSHR Zornitza Stark Mode of inheritance for gene: TSHR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.106 WNK1 Zornitza Stark Mode of inheritance for gene: WNK1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v1.104 WNK1 Zornitza Stark Tag treatable tag was added to gene: WNK1.
Tag endocrine tag was added to gene: WNK1.
Genomic newborn screening: BabyScreen+ v1.103 TRIM28 Zornitza Stark Tag cancer tag was added to gene: TRIM28.
Tag treatable tag was added to gene: TRIM28.
Genomic newborn screening: BabyScreen+ v1.103 TRIM28 Zornitza Stark gene: TRIM28 was added
gene: TRIM28 was added to BabyScreen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: TRIM28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRIM28 were set to 30694527
Phenotypes for gene: TRIM28 were set to Wilms tumour, MONDO:0006058, TRIM28-related
Review for gene: TRIM28 was set to GREEN
Added comment: Established gene-disease association, more than 10 individuals reported.

Onset in childhood.

Included for completeness as managed similarly to WT1.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v1.99 TRHR Zornitza Stark Tag treatable tag was added to gene: TRHR.
Tag endocrine tag was added to gene: TRHR.
Genomic newborn screening: BabyScreen+ v1.98 SGPL1 Zornitza Stark Tag renal was removed from gene: SGPL1.
Tag treatable tag was added to gene: SGPL1.
Tag endocrine tag was added to gene: SGPL1.
Genomic newborn screening: BabyScreen+ v1.96 SCNN1G Zornitza Stark Tag treatable tag was added to gene: SCNN1G.
Tag endocrine tag was added to gene: SCNN1G.
Genomic newborn screening: BabyScreen+ v1.93 RPS7 Zornitza Stark Tag treatable tag was added to gene: RPS7.
Tag haematological tag was added to gene: RPS7.
Genomic newborn screening: BabyScreen+ v1.90 RPL35A Zornitza Stark Tag treatable tag was added to gene: RPL35A.
Tag haematological tag was added to gene: RPL35A.
Genomic newborn screening: BabyScreen+ v1.89 REST Zornitza Stark gene: REST was added
gene: REST was added to BabyScreen+ newborn screening. Sources: Expert list
cancer, treatable tags were added to gene: REST.
Mode of inheritance for gene: REST was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: REST were set to 26551668; 34308104
Phenotypes for gene: REST were set to {Wilms tumor 6, susceptibility to}, MIM# 616806
Review for gene: REST was set to GREEN
Added comment: Established association, more than 10 families reported.

Childhood onset.

Included for completeness as managed similarly to WT1.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v1.87 PSTPIP1 Zornitza Stark gene: PSTPIP1 was added
gene: PSTPIP1 was added to BabyScreen+ newborn screening. Sources: Expert list
treatable, immunological tags were added to gene: PSTPIP1.
Mode of inheritance for gene: PSTPIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PSTPIP1 were set to Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416
Review for gene: PSTPIP1 was set to GREEN
Added comment: Established gene-disease association.

Onset in childhood.

Treatment: adalimumab and tacrolimus, NSAIDs, corticosteroids, BMT

non-genetic confirmatory testing: no
Sources: Expert list
Genomic newborn screening: BabyScreen+ v1.85 PPOX Zornitza Stark Tag treatable tag was added to gene: PPOX.
Tag haematological tag was added to gene: PPOX.
Genomic newborn screening: BabyScreen+ v1.85 PPOX Zornitza Stark Mode of inheritance for gene: PPOX was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.80 POLE Zornitza Stark gene: POLE was added
gene: POLE was added to BabyScreen+ newborn screening. Sources: Expert list
treatable, endocrine tags were added to gene: POLE.
Mode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLE were set to IMAGE-I syndrome, MIM# 618336
Review for gene: POLE was set to GREEN
Added comment: Established gene-disease association.

Multi-system disorder comprising GH and adrenal hypoplasia.

Treatment: hydrocortisone

non-genetic confirmatory testing: hormone levels
Sources: Expert list
Genomic newborn screening: BabyScreen+ v1.77 NCF4 Zornitza Stark Tag treatable tag was added to gene: NCF4.
Tag immunological tag was added to gene: NCF4.
Genomic newborn screening: BabyScreen+ v1.76 LPL Zornitza Stark gene: LPL was added
gene: LPL was added to BabyScreen+ newborn screening. Sources: Expert list
treatable, metabolic tags were added to gene: LPL.
Mode of inheritance for gene: LPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LPL were set to Lipoprotein lipase deficiency, MIM# 238600
Review for gene: LPL was set to GREEN
Added comment: Established gene-disease association.

Bi-allelic disease is severe and presents in infancy.

Treatment: volanesorsen, dietary fat restriction, lomitapide

Non-genetic confirmatory testing: LPL activity
Sources: Expert list
Genomic newborn screening: BabyScreen+ v1.74 LAT Zornitza Stark gene: LAT was added
gene: LAT was added to BabyScreen+ newborn screening. Sources: Expert list
treatable, immunological tags were added to gene: LAT.
Mode of inheritance for gene: LAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAT were set to Immunodeficiency 52, MIM# 617514
Review for gene: LAT was set to GREEN
Added comment: Established gene-disease association.

SCID-like presentation.

Treatment: BMT

Non-genetic confirmatory testing: yes
Sources: Expert list
Genomic newborn screening: BabyScreen+ v1.72 KLHL3 Zornitza Stark gene: KLHL3 was added
gene: KLHL3 was added to BabyScreen+ newborn screening. Sources: Expert list
treatable, endocrine tags were added to gene: KLHL3.
Mode of inheritance for gene: KLHL3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: KLHL3 were set to Pseudohypoaldosteronism, type IID, MIM# 614495
Review for gene: KLHL3 was set to GREEN
Added comment: Established gene disease association.

Results in hyperkalaemia and later, the development of hypertension.

Treatment: thiazide diuretics normalise electrolytes

Non-genetic confirmatory testing: electrolytes
Sources: Expert list
Genomic newborn screening: BabyScreen+ v1.70 IRF8 Zornitza Stark gene: IRF8 was added
gene: IRF8 was added to BabyScreen+ newborn screening. Sources: Expert list
treatable, immunological tags were added to gene: IRF8.
Mode of inheritance for gene: IRF8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IRF8 were set to Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, MIM# 226990
Review for gene: IRF8 was set to GREEN
Added comment: At least 4 families reported with bi-allelic variants. Gene-disease association also proposed for mono-allelic variants but only two individuals reported.

Recurrent infections presenting in infancy.

Treatment: BMT

Non-genetic confirmatory testing available
Sources: Expert list
Genomic newborn screening: BabyScreen+ v1.67 IL10RB Zornitza Stark Tag treatable tag was added to gene: IL10RB.
Tag immunological tag was added to gene: IL10RB.
Genomic newborn screening: BabyScreen+ v1.66 IL10 Zornitza Stark Tag treatable tag was added to gene: IL10.
Tag immunological tag was added to gene: IL10.
Genomic newborn screening: BabyScreen+ v1.66 IL10 Zornitza Stark gene: IL10 was added
gene: IL10 was added to BabyScreen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: IL10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL10 were set to 22236434; 20951137; 19890111
Phenotypes for gene: IL10 were set to Autoinflammatory syndrome, MONDO:0019751, IL10-related
Review for gene: IL10 was set to GREEN
Added comment: Established gene-disease association.

Onset in infancy and childhood.

Treatment: BMT

Non-genetic confirmatory testing: flow cytometry
Sources: Expert list
Genomic newborn screening: BabyScreen+ v1.63 IGF1 Zornitza Stark Tag treatable tag was added to gene: IGF1.
Tag endocrine tag was added to gene: IGF1.
Genomic newborn screening: BabyScreen+ v1.62 GALNT3 Zornitza Stark gene: GALNT3 was added
gene: GALNT3 was added to BabyScreen+ newborn screening. Sources: Expert list
treatable, endocrine tags were added to gene: GALNT3.
Mode of inheritance for gene: GALNT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALNT3 were set to Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900
Review for gene: GALNT3 was set to GREEN
Added comment: Established gene-disease association.

Onset in infancy/childhood.

Treatment: dietary restriction, phosphate binders, acetazolamide

Non-genetic confirmatory testing: serum phosphate, calcium, PTH, alkaline phosphatase, vitamin D serum levels, urine calcium, phosphate levels, plasma levels of the C-terminal portion of the phosphate-regulating hormone, fibroblast growth factor 23
Sources: Expert list
Genomic newborn screening: BabyScreen+ v1.60 FECH Zornitza Stark gene: FECH was added
gene: FECH was added to BabyScreen+ newborn screening. Sources: Expert list
treatable, haematological tags were added to gene: FECH.
Mode of inheritance for gene: FECH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FECH were set to Protoporphyria, erythropoietic, 1, MIM# 177000
Review for gene: FECH was set to GREEN
Added comment: Established gene-disease association.

Onset of photosensitivity is in infancy/childhood.

Treatment: Afamelanotide

Non-genetic confirmatory testing: free protoporphyrin
Sources: Expert list
Genomic newborn screening: BabyScreen+ v1.57 F13B Zornitza Stark Tag treatable tag was added to gene: F13B.
Tag haematological tag was added to gene: F13B.
Genomic newborn screening: BabyScreen+ v1.56 F10 Zornitza Stark Tag for review was removed from gene: F10.
Tag treatable tag was added to gene: F10.
Tag haematological tag was added to gene: F10.
Genomic newborn screening: BabyScreen+ v1.54 ERCC4 Zornitza Stark Tag treatable tag was added to gene: ERCC4.
Tag haematological tag was added to gene: ERCC4.
Genomic newborn screening: BabyScreen+ v1.51 CYP7B1 Zornitza Stark Tag treatable tag was added to gene: CYP7B1.
Tag liver tag was added to gene: CYP7B1.
Genomic newborn screening: BabyScreen+ v1.50 CUL3 Zornitza Stark gene: CUL3 was added
gene: CUL3 was added to BabyScreen+ newborn screening. Sources: Expert list
treatable, endocrine tags were added to gene: CUL3.
Mode of inheritance for gene: CUL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CUL3 were set to Pseudohypoaldosteronism, type IIE 614496
Review for gene: CUL3 was set to GREEN
Added comment: Established gene-disease association.

Variants in this gene also cause a neurodevelopmental disorder; however, there is some genotype-phenotype correlation literature to help distinguish the two.

Results in hyperkalaemia and development of hypertension. However, the onset of hypertension is generally later in life.

Treatment: thiazide diuretics normalise biochemical abnormalities
Sources: Expert list
Genomic newborn screening: BabyScreen+ v1.46 COQ6 Zornitza Stark Tag treatable tag was added to gene: COQ6.
Tag metabolic tag was added to gene: COQ6.
Genomic newborn screening: BabyScreen+ v1.44 COQ2 Zornitza Stark Tag treatable tag was added to gene: COQ2.
Tag metabolic tag was added to gene: COQ2.
Genomic newborn screening: BabyScreen+ v1.43 CHRNB1 Zornitza Stark Tag treatable tag was added to gene: CHRNB1.
Tag neurological tag was added to gene: CHRNB1.
Genomic newborn screening: BabyScreen+ v1.39 CFH Zornitza Stark Tag treatable tag was added to gene: CFH.
Tag immunological tag was added to gene: CFH.
Genomic newborn screening: BabyScreen+ v1.36 CFD Zornitza Stark Tag treatable tag was added to gene: CFD.
Tag immunological tag was added to gene: CFD.
Genomic newborn screening: BabyScreen+ v1.35 CEBPE Zornitza Stark Tag treatable tag was added to gene: CEBPE.
Tag immunological tag was added to gene: CEBPE.
Genomic newborn screening: BabyScreen+ v1.35 CEBPE Zornitza Stark gene: CEBPE was added
gene: CEBPE was added to BabyScreen+ newborn screening. Sources: Expert Review
Mode of inheritance for gene: CEBPE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEBPE were set to Specific granule deficiency, MIM# 245480
Review for gene: CEBPE was set to GREEN
Added comment: Established gene-disease association.

Recurrent infections in infancy and childhood.

Treatment: long term antimicrobial prophalaxis

Non-genetic confirmatory testing available
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v1.32 C3 Zornitza Stark Tag treatable tag was added to gene: C3.
Tag immunological tag was added to gene: C3.
Genomic newborn screening: BabyScreen+ v1.31 C2 Zornitza Stark Tag treatable tag was added to gene: C2.
Tag immunological tag was added to gene: C2.
Genomic newborn screening: BabyScreen+ v1.31 C2 Zornitza Stark gene: C2 was added
gene: C2 was added to BabyScreen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: C2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C2 were set to 31421540
Phenotypes for gene: C2 were set to C2 deficiency, MIM# 217000
Review for gene: C2 was set to GREEN
Added comment: Established gene-disease association.

Can present with severe early infections in infancy/childhood.

Later manifestations include autoimmune phenomena.

Treatment: pneumococcal, meningococcal, haemophilus influenzae vaccines

Non-genetic confirmatory tests: complement levels
Sources: Expert list
Genomic newborn screening: BabyScreen+ v1.30 APOA5 Zornitza Stark gene: APOA5 was added
gene: APOA5 was added to BabyScreen+ newborn screening. Sources: Expert list
treatable tags were added to gene: APOA5.
Mode of inheritance for gene: APOA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: APOA5 were set to 23307945; 31390500
Phenotypes for gene: APOA5 were set to Hyperchylomicronaemia, late-onset, MIM# 144650
Review for gene: APOA5 was set to RED
Added comment: Established gene-disease association.

Variable age of onset, many of the reported individuals are adults.

Treatment: Volanesorsen
Sources: Expert list
Genomic newborn screening: BabyScreen+ v1.28 AP3D1 Zornitza Stark gene: AP3D1 was added
gene: AP3D1 was added to BabyScreen+ newborn screening. Sources: Expert list
treatable, haematological tags were added to gene: AP3D1.
Mode of inheritance for gene: AP3D1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP3D1 were set to 26744459; 9697856; 30472485; 36445457
Phenotypes for gene: AP3D1 were set to Hermansky-Pudlak syndrome 10, MIM# 617050
Review for gene: AP3D1 was set to AMBER
Added comment: Four individuals from two unrelated families and a mouse model. Borderline gene-disease association.

New case report 36445457, proband presenting with SNHL and questionable other subtle features of HPS, homozygous missense variant (VOUS).

Onset in infancy.

Treatable: BMT for immunodeficiency.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v1.24 AMACR Zornitza Stark Tag treatable tag was added to gene: AMACR.
Tag liver tag was added to gene: AMACR.
Genomic newborn screening: BabyScreen+ v1.24 ABCD4 Zornitza Stark Tag treatable tag was added to gene: ABCD4.
Genomic newborn screening: BabyScreen+ v1.23 TRAC Zornitza Stark gene: TRAC was added
gene: TRAC was added to BabyScreen+ newborn screening. Sources: Expert Review
founder, technically challenging tags were added to gene: TRAC.
Mode of inheritance for gene: TRAC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAC were set to 21206088
Phenotypes for gene: TRAC were set to Immunodeficiency 7, TCR-alpha/beta deficient, MIM#615387
Review for gene: TRAC was set to RED
Added comment: Single variant reported to date in 6 patients; 2 unrelated children from consanguineous families of Pakistani descent (PMID: 21206088); 1 non-consanguineous family from North-west India (PMID: 33909184) and 1 consanguineous parents of East Indian (https://lymphosign.com/doi/10.14785/lymphosign-2022-0001)

Also note annotation issues in certain variant curation and annotation tools.
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v1.21 HBA1 Zornitza Stark Tag for review was removed from gene: HBA1.
Tag treatable tag was added to gene: HBA1.
Genomic newborn screening: BabyScreen+ v1.21 HBA2 Zornitza Stark Tag for review was removed from gene: HBA2.
Tag technically challenging tag was added to gene: HBA2.
Genomic newborn screening: BabyScreen+ v1.21 HBA1 Zornitza Stark Tag technically challenging tag was added to gene: HBA1.
Genomic newborn screening: BabyScreen+ v1.21 IKBKG Zornitza Stark Tag technically challenging tag was added to gene: IKBKG.
Genomic newborn screening: BabyScreen+ v1.18 NCF1 Zornitza Stark Tag technically challenging tag was added to gene: NCF1.
Genomic newborn screening: BabyScreen+ v1.17 CYP21A2 Zornitza Stark Tag treatable tag was added to gene: CYP21A2.
Tag endocrine tag was added to gene: CYP21A2.
Tag technically challenging tag was added to gene: CYP21A2.
Genomic newborn screening: BabyScreen+ v1.17 CORO1A Zornitza Stark Tag technically challenging tag was added to gene: CORO1A.
Genomic newborn screening: BabyScreen+ v1.17 F8 Zornitza Stark Tag for review was removed from gene: F8.
Tag technically challenging tag was added to gene: F8.
Genomic newborn screening: BabyScreen+ v1.17 GBA Zornitza Stark Tag technically challenging tag was added to gene: GBA.
Genomic newborn screening: BabyScreen+ v1.16 PMS2 Zornitza Stark Tag technically challenging tag was added to gene: PMS2.
Genomic newborn screening: BabyScreen+ v1.15 IGHM Zornitza Stark Tag technically challenging tag was added to gene: IGHM.
Genomic newborn screening: BabyScreen+ v1.14 STRC Zornitza Stark Tag technically challenging tag was added to gene: STRC.
Genomic newborn screening: BabyScreen+ v1.1 UMPS Zornitza Stark Tag for review was removed from gene: UMPS.
Genomic newborn screening: BabyScreen+ v1.1 SMN1 Zornitza Stark Tag for review was removed from gene: SMN1.
Genomic newborn screening: BabyScreen+ v1.1 OAT Zornitza Stark Tag for review was removed from gene: OAT.
Genomic newborn screening: BabyScreen+ v1.1 MLH1 Zornitza Stark Tag for review was removed from gene: MLH1.
Genomic newborn screening: BabyScreen+ v1.1 KCNJ2 Zornitza Stark Tag for review was removed from gene: KCNJ2.
Tag treatable tag was added to gene: KCNJ2.
Genomic newborn screening: BabyScreen+ v1.1 HIBCH Zornitza Stark Tag for review was removed from gene: HIBCH.
Genomic newborn screening: BabyScreen+ v1.1 NIPAL4 Zornitza Stark Tag for review was removed from gene: NIPAL4.
Tag treatable tag was added to gene: NIPAL4.
Tag dermatological tag was added to gene: NIPAL4.
Genomic newborn screening: BabyScreen+ v1.1 SAMD9 Zornitza Stark Tag treatable tag was added to gene: SAMD9.
Tag endocrine tag was added to gene: SAMD9.
Tag haematological tag was added to gene: SAMD9.
Genomic newborn screening: BabyScreen+ v1.1 PDP1 Zornitza Stark Tag treatable tag was added to gene: PDP1.
Tag metabolic tag was added to gene: PDP1.
Genomic newborn screening: BabyScreen+ v1.1 GFI1 Zornitza Stark Tag treatable tag was added to gene: GFI1.
Tag immunological tag was added to gene: GFI1.
Genomic newborn screening: BabyScreen+ v1.1 DLAT Zornitza Stark Tag treatable tag was added to gene: DLAT.
Tag metabolic tag was added to gene: DLAT.
Genomic newborn screening: BabyScreen+ v1.1 CORO1A Zornitza Stark Tag treatable tag was added to gene: CORO1A.
Tag immunological tag was added to gene: CORO1A.
Genomic newborn screening: BabyScreen+ v1.1 CD70 Zornitza Stark Tag treatable tag was added to gene: CD70.
Tag immunological tag was added to gene: CD70.
Genomic newborn screening: BabyScreen+ v1.1 CD40 Zornitza Stark Tag treatable tag was added to gene: CD40.
Tag immunological tag was added to gene: CD40.
Genomic newborn screening: BabyScreen+ v1.1 BMP1 Zornitza Stark Tag skeletal tag was added to gene: BMP1.
Genomic newborn screening: BabyScreen+ v0.2179 KCNQ1 Zornitza Stark Mode of inheritance for gene: KCNQ1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.2178 KCNQ1 Zornitza Stark Tag deafness tag was added to gene: KCNQ1.
Genomic newborn screening: BabyScreen+ v0.2177 DMD Zornitza Stark Tag for review was removed from gene: DMD.
Genomic newborn screening: BabyScreen+ v0.2177 PLG Zornitza Stark Mode of inheritance for gene: PLG was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.2176 ABCD4 Zornitza Stark Tag metabolic tag was added to gene: ABCD4.
Genomic newborn screening: BabyScreen+ v0.2175 COL4A6 Zornitza Stark edited their review of gene: COL4A6: Added comment: Further review of PMID:33840813;

Family A:
- Proband is hemi for COL4A6 and het for GJB2. Mother is het for COL4A6
- hypothesised that in the proband is more severe than the parents due to additive effects of his two variants however, mother's audiometric data was unavailable to confirm this.

Family B:
- Variant does not segregate within family with the proband being WT in this gene
- NM_001287758.1: c.3272G>C is the mutation however, it appears to be an annotation error as it corresponds to NC_000023.11:g.108171443 in GRCh38. At that position, the c. is T not G and the amino acid residue is Val, not Gly.

In addition, there is a missense affecting Gly of GXY in gnomad v3 with 38 hemis.; Changed rating: RED; Changed publications: 33840813; Changed phenotypes: Deafness, X-linked 6 MIM#300914; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.2172 DLAT Zornitza Stark gene: DLAT was added
gene: DLAT was added to Baby Screen+ newborn screening. Sources: Expert Review
Mode of inheritance for gene: DLAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DLAT were set to Pyruvate dehydrogenase E2 deficiency, MIM# 245348
Review for gene: DLAT was set to GREEN
Added comment: Well established gene-disease association.

Clinical presentation is in infancy.

Treatment: ketogenic diet has a significant impact on outcome; some cases responsive to thiamine

Non-genetic confirmatory testing: enzymology

Included for consistency with PDHA1/PDHX
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.2170 PDHB Zornitza Stark gene: PDHB was added
gene: PDHB was added to Baby Screen+ newborn screening. Sources: Expert Review
treatable, metabolic tags were added to gene: PDHB.
Mode of inheritance for gene: PDHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDHB were set to Pyruvate dehydrogenase E1-beta deficiency, MIM# 614111
Review for gene: PDHB was set to GREEN
Added comment: Well established gene-disease association.

Clinical presentation is in infancy.

Treatment: ketogenic diet has a significant impact on outcome; some cases responsive to thiamine

Non-genetic confirmatory testing: enzymology

Included for consistency with PDHA1/PDHX
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.2167 SLITRK6 Zornitza Stark Tag deafness tag was added to gene: SLITRK6.
Genomic newborn screening: BabyScreen+ v0.2165 GREB1L Zornitza Stark Tag deafness tag was added to gene: GREB1L.
Genomic newborn screening: BabyScreen+ v0.2161 NLRP3 Zornitza Stark Tag treatable tag was added to gene: NLRP3.
Tag immunological tag was added to gene: NLRP3.
Genomic newborn screening: BabyScreen+ v0.2161 NLRP3 Zornitza Stark gene: NLRP3 was added
gene: NLRP3 was added to Baby Screen+ newborn screening. Sources: Expert Review
Mode of inheritance for gene: NLRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NLRP3 were set to 25038238
Phenotypes for gene: NLRP3 were set to Familial cold inflammatory syndrome 1, MIM#120100 Muckle-Wells syndrome, MIM#191900 CINCA syndrome, MIM#607115 Deafness, autosomal dominant 34, with or without inflammation, MIM#617772 Keratoendothelitis fugax hereditaria, MIM#148200
Review for gene: NLRP3 was set to AMBER
Added comment: Established gene-disease associations.

Variants in this gene cause a spectrum of clinical phenotypes, ranging from onset in infancy to adult-onset, with variable severity. Genotype-phenotype correlation is unclear, hence not suitable for inclusion at this time.

Treatment: corticosteroids, anakinra, rilonacept and canakinumab.

Non-genetic confirmatory testing: no.
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.2160 AMT Zornitza Stark Tag treatable tag was added to gene: AMT.
Tag metabolic tag was added to gene: AMT.
Genomic newborn screening: BabyScreen+ v0.2154 CYP27A1 Zornitza Stark Tag for review was removed from gene: CYP27A1.
Tag metabolic tag was added to gene: CYP27A1.
Genomic newborn screening: BabyScreen+ v0.2151 SGSH Zornitza Stark Tag clinical trial tag was added to gene: SGSH.
Genomic newborn screening: BabyScreen+ v0.2150 GPR161 Zornitza Stark Tag cancer tag was added to gene: GPR161.
Genomic newborn screening: BabyScreen+ v0.2150 CTR9 Zornitza Stark Tag cancer tag was added to gene: CTR9.
Genomic newborn screening: BabyScreen+ v0.2149 ALK Zornitza Stark Tag cancer tag was added to gene: ALK.
Genomic newborn screening: BabyScreen+ v0.2148 SUFU Lilian Downie gene: SUFU was added
gene: SUFU was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: SUFU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SUFU were set to PMID: 29186568
Phenotypes for gene: SUFU were set to {Medulloblastoma} MIM#155255
Penetrance for gene: SUFU were set to Incomplete
Review for gene: SUFU was set to RED
Added comment: Medullobastoma 1st year of life
incomplete penetrance
worse outcomes
no determined screening protocol
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2148 PAX5 Lilian Downie gene: PAX5 was added
gene: PAX5 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: PAX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAX5 were set to PMID: 24013638
Phenotypes for gene: PAX5 were set to {Leukemia, acute lymphoblastic, susceptibility to, 3} MIM#615545
Penetrance for gene: PAX5 were set to Incomplete
Review for gene: PAX5 was set to RED
Added comment: Incomplete penetrance
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2148 GPR161 Lilian Downie gene: GPR161 was added
gene: GPR161 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: GPR161 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GPR161 were set to PMID: 31609649
Phenotypes for gene: GPR161 were set to Medulloblastoma predisposition syndrome MIM#155255
Penetrance for gene: GPR161 were set to Incomplete
Review for gene: GPR161 was set to RED
Added comment: Increased risk of medulloblastoma at <3yrs
Also identified in population and healthy parents
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2148 CTR9 Lilian Downie gene: CTR9 was added
gene: CTR9 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: CTR9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CTR9 were set to PMID: 32412586
Phenotypes for gene: CTR9 were set to Wilms tumour predisposition
Penetrance for gene: CTR9 were set to Incomplete
Review for gene: CTR9 was set to RED
Added comment: 9/14 germline variant developed Wilms (in 4 families)
Red due to reduced penetrance
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2148 ALK Lilian Downie gene: ALK was added
gene: ALK was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: ALK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ALK were set to PMID: 22071890
Phenotypes for gene: ALK were set to {Neuroblastoma, susceptibility to, 3} MIM#613014
Penetrance for gene: ALK were set to Incomplete
Review for gene: ALK was set to RED
Added comment: Reduced penetrance
Not clear guideline on management if detected
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2148 TUBB4B Lilian Downie gene: TUBB4B was added
gene: TUBB4B was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: TUBB4B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBB4B were set to PMID: 29198720, 35240325
Phenotypes for gene: TUBB4B were set to Leber congenital amaurosis with early-onset deafness MIM#617879
Review for gene: TUBB4B was set to RED
Added comment: The TUBB4B gene has been associated with autosomal dominant Leber congenital amaurosis with early-onset deafness
Not consistently hearing phenotype <5years therefore excluded
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2148 SLITRK6 Lilian Downie gene: SLITRK6 was added
gene: SLITRK6 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: SLITRK6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLITRK6 were set to PMID: 23543054, PMID: 25590127
Phenotypes for gene: SLITRK6 were set to Deafness and myopia MIM#221200
Review for gene: SLITRK6 was set to GREEN
Added comment: Congenital or prelingual deafness (SNHL or ANSD)
high myopia
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2148 MPZL2 Lilian Downie gene: MPZL2 was added
gene: MPZL2 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: MPZL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPZL2 were set to PMID: 29982980, 29961571, 35734045,33234333
Phenotypes for gene: MPZL2 were set to Deafness, autosomal recessive 111 MIM#618145
Review for gene: MPZL2 was set to RED
Added comment: Most cases are pre-lingual but 29961571, 35734045 report adult onset so I think should be excluded based on variability of age of onset
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2141 LMX1A Lilian Downie gene: LMX1A was added
gene: LMX1A was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: LMX1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LMX1A were set to PMID: 29754270
Phenotypes for gene: LMX1A were set to Deafness, autosomal dominant 7 MIM#601412
Review for gene: LMX1A was set to RED
Added comment: Age of onset too variable
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2141 GREB1L Lilian Downie gene: GREB1L was added
gene: GREB1L was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: GREB1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GREB1L were set to PMID: 29955957, 32585897
Phenotypes for gene: GREB1L were set to Deafness, autosomal dominant 80 MIM#619274
Review for gene: GREB1L was set to GREEN
Added comment: Congenital hearing impairment with cochlear abnormalities
This gene also causes Renal hypodysplasia/aplasia 3 MIM#617805 with no clear difference in mutation spectrum
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2141 CRYM Lilian Downie gene: CRYM was added
gene: CRYM was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: CRYM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CRYM were set to PMID: 12471561, 32742378
Phenotypes for gene: CRYM were set to Deafness, autosomal dominant 40 MIM#616357
Review for gene: CRYM was set to RED
Added comment: Dominant hearing loss
One paper infant onset, the other all adult onset
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2141 COL4A6 Lilian Downie gene: COL4A6 was added
gene: COL4A6 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: COL4A6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: COL4A6 were set to PMID: 33840813, PMID: 23714752
Phenotypes for gene: COL4A6 were set to Deafness, X-linked 6 MIM#300914
Review for gene: COL4A6 was set to GREEN
Added comment: Pre-lingual or congenital deafness in males
consider not reporting in females (may have adult onset hearing impairment)
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2141 CLDN9 Lilian Downie gene: CLDN9 was added
gene: CLDN9 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: CLDN9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLDN9 were set to PMID: 34265170
Phenotypes for gene: CLDN9 were set to Deafness, autosomal recessive 116 MIM#619093
Review for gene: CLDN9 was set to RED
Added comment: Age of onset not consistently <5
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2141 CEP250 Lilian Downie gene: CEP250 was added
gene: CEP250 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: CEP250 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP250 were set to PMID: 34223797, PMID: 29718797, PMID: 30459346, PMID: 28005958
Phenotypes for gene: CEP250 were set to Cone-rod dystrophy and hearing loss 2 MIM#618358
Review for gene: CEP250 was set to RED
Added comment: Hearing loss and RP
Atypical Usher phenotype
Age of onset and penetrance of hearing loss component is variable and seeing as this is the treatable component have excluded from list
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2141 ABHD12 Lilian Downie gene: ABHD12 was added
gene: ABHD12 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABHD12 were set to Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674
Review for gene: ABHD12 was set to RED
Added comment: Age of onset not consistently under 5 for treatable elements such as hearing loss.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2141 CD164 Lilian Downie gene: CD164 was added
gene: CD164 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: CD164 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CD164 were set to Deafness, autosomal dominant 66 MIM#616969
Review for gene: CD164 was set to RED
Added comment: Green in our mendeliome/deafness but limited evidence by clingen
variable age of onset from newborn to 20's reason for exclusion
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2141 AP1B1 Lilian Downie gene: AP1B1 was added
gene: AP1B1 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: AP1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP1B1 were set to PMID:31630791, 31630788, 33452671
Phenotypes for gene: AP1B1 were set to Keratitis-ichthyosis-deafness syndrome, autosomal recessive MIM#242150
Review for gene: AP1B1 was set to GREEN
Added comment: Icthyosis
progressive hearing loss (childhood) often detected newborn screening
photophobia
corneal scarring/keratitis
variable dev delay
part of copper metabolism pathway but no proven treatment
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2140 NKX2-5 Zornitza Stark Tag treatable tag was added to gene: NKX2-5.
Genomic newborn screening: BabyScreen+ v0.2139 MYH7 Zornitza Stark Mode of inheritance for gene: MYH7 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.2137 MYH7 Zornitza Stark Tag cardiac tag was added to gene: MYH7.
Tag treatable tag was added to gene: MYH7.
Genomic newborn screening: BabyScreen+ v0.2134 TRDN Zornitza Stark changed review comment from: Rated as 'strong actionability' for paediatric patients by ClinGen.

The mean age of onset of symptoms (usually a syncopal episode) of CPVT is between age seven and twelve years; onset as late as the fourth decade of life has been reported. Nearly 60% of patients have at least one syncopal episode before age 40. If untreated, CPVT is highly lethal, as approximately 30% of genetically affected individuals experience at least one cardiac arrest and up to 80% one or more syncopal spells. In untreated patients, the 8-year fatal or near-fatal event rates of 25% have been reported. Sudden death may be the first manifestation of the disease.

Beta-blockers lacking intrinsic sympathomimetic activity are recommended as a first-line therapy in all patients with a clinical diagnosis of CPVT, including those with documented spontaneous, stress-induced VAs. Guidelines differ in their recommendations about utilizing beta-blocker therapy in phenotype negative individuals. Treatment with beta blockers is associated with a reduction in adverse cardiac events. However, variability in outcome with beta-blocker therapy is due to multiple factors, including dosing and compliance. In a study of 101 patients with CPVT (22 diagnosed clinically and 79 diagnosed molecularly), 81 were administered beta-blockers (57 symptomatic and 24 asymptomatic individuals). Estimated 4- and 8-year cardiac event rates were 8% and 27%, respectively in patients taking beta-blockers, and 33% and 58% in those not taking beta blockers (log-rank p=0.01). Corresponding statistics for fatal events were 1% and 11% with beta-blockers vs. 18% and 25% without (log-rank p=0.05). Event rates in asymptomatic patients with a positive genotype were similar to other patients. In multivariate models, absence of beta-blockers was an independent predictor of cardiac events (hazard ratio [HR], 5.48; 95% CI, 1.8 to 16.7, p=0.003) and of fatal events (HR, 5.54; 95% CI, 1.2 to 26.1, p=0.03). Of the 37 asymptomatic patients with a positive genotype, 9 (24%) had cardiac events.

In patients with CPVT and recurrent sustained VT or syncope, while receiving adequate or maximally tolerated beta blocker, treatment intensification with either combination medication therapy (e.g., beta blocker with flecainide), left cardiac sympathetic denervation, and/or an ICD is recommended.

Clinical penetrance ranges from 25 to 100%, with an average of 70 to 80%. Syncope appears to be the first symptom in more than half of the patients. When untreated, mortality from CPVT is high, reaching 30 to 50% by the age of 30 years.

For review: age of onset and penetrance.; to: Rated as 'strong actionability' for paediatric patients by ClinGen.

The mean age of onset of symptoms (usually a syncopal episode) of CPVT is between age seven and twelve years; onset as late as the fourth decade of life has been reported. Nearly 60% of patients have at least one syncopal episode before age 40. If untreated, CPVT is highly lethal, as approximately 30% of genetically affected individuals experience at least one cardiac arrest and up to 80% one or more syncopal spells. In untreated patients, the 8-year fatal or near-fatal event rates of 25% have been reported. Sudden death may be the first manifestation of the disease.

Beta-blockers lacking intrinsic sympathomimetic activity are recommended as a first-line therapy in all patients with a clinical diagnosis of CPVT, including those with documented spontaneous, stress-induced VAs. Guidelines differ in their recommendations about utilizing beta-blocker therapy in phenotype negative individuals. Treatment with beta blockers is associated with a reduction in adverse cardiac events. However, variability in outcome with beta-blocker therapy is due to multiple factors, including dosing and compliance. In a study of 101 patients with CPVT (22 diagnosed clinically and 79 diagnosed molecularly), 81 were administered beta-blockers (57 symptomatic and 24 asymptomatic individuals). Estimated 4- and 8-year cardiac event rates were 8% and 27%, respectively in patients taking beta-blockers, and 33% and 58% in those not taking beta blockers (log-rank p=0.01). Corresponding statistics for fatal events were 1% and 11% with beta-blockers vs. 18% and 25% without (log-rank p=0.05). Event rates in asymptomatic patients with a positive genotype were similar to other patients. In multivariate models, absence of beta-blockers was an independent predictor of cardiac events (hazard ratio [HR], 5.48; 95% CI, 1.8 to 16.7, p=0.003) and of fatal events (HR, 5.54; 95% CI, 1.2 to 26.1, p=0.03). Of the 37 asymptomatic patients with a positive genotype, 9 (24%) had cardiac events.

In patients with CPVT and recurrent sustained VT or syncope, while receiving adequate or maximally tolerated beta blocker, treatment intensification with either combination medication therapy (e.g., beta blocker with flecainide), left cardiac sympathetic denervation, and/or an ICD is recommended.

Clinical penetrance ranges from 25 to 100%, with an average of 70 to 80%. Syncope appears to be the first symptom in more than half of the patients. When untreated, mortality from CPVT is high, reaching 30 to 50% by the age of 30 years.

Reviewed with paediatric cardiologist: variable penetrance and age of onset, does not fulfil criteria for gNBS.
Genomic newborn screening: BabyScreen+ v0.2133 TECRL Zornitza Stark changed review comment from: Rated as 'strong actionability' for paediatric patients by ClinGen.

The mean age of onset of symptoms (usually a syncopal episode) of CPVT is between age seven and twelve years; onset as late as the fourth decade of life has been reported. Nearly 60% of patients have at least one syncopal episode before age 40. If untreated, CPVT is highly lethal, as approximately 30% of genetically affected individuals experience at least one cardiac arrest and up to 80% one or more syncopal spells. In untreated patients, the 8-year fatal or near-fatal event rates of 25% have been reported. Sudden death may be the first manifestation of the disease.

Beta-blockers lacking intrinsic sympathomimetic activity are recommended as a first-line therapy in all patients with a clinical diagnosis of CPVT, including those with documented spontaneous, stress-induced VAs. Guidelines differ in their recommendations about utilizing beta-blocker therapy in phenotype negative individuals. Treatment with beta blockers is associated with a reduction in adverse cardiac events. However, variability in outcome with beta-blocker therapy is due to multiple factors, including dosing and compliance. In a study of 101 patients with CPVT (22 diagnosed clinically and 79 diagnosed molecularly), 81 were administered beta-blockers (57 symptomatic and 24 asymptomatic individuals). Estimated 4- and 8-year cardiac event rates were 8% and 27%, respectively in patients taking beta-blockers, and 33% and 58% in those not taking beta blockers (log-rank p=0.01). Corresponding statistics for fatal events were 1% and 11% with beta-blockers vs. 18% and 25% without (log-rank p=0.05). Event rates in asymptomatic patients with a positive genotype were similar to other patients. In multivariate models, absence of beta-blockers was an independent predictor of cardiac events (hazard ratio [HR], 5.48; 95% CI, 1.8 to 16.7, p=0.003) and of fatal events (HR, 5.54; 95% CI, 1.2 to 26.1, p=0.03). Of the 37 asymptomatic patients with a positive genotype, 9 (24%) had cardiac events.

In patients with CPVT and recurrent sustained VT or syncope, while receiving adequate or maximally tolerated beta blocker, treatment intensification with either combination medication therapy (e.g., beta blocker with flecainide), left cardiac sympathetic denervation, and/or an ICD is recommended.

Clinical penetrance ranges from 25 to 100%, with an average of 70 to 80%. Syncope appears to be the first symptom in more than half of the patients. When untreated, mortality from CPVT is high, reaching 30 to 50% by the age of 30 years.

For review: age of onset and penetrance.
Sources: ClinGen; to: Rated as 'strong actionability' for paediatric patients by ClinGen.

The mean age of onset of symptoms (usually a syncopal episode) of CPVT is between age seven and twelve years; onset as late as the fourth decade of life has been reported. Nearly 60% of patients have at least one syncopal episode before age 40. If untreated, CPVT is highly lethal, as approximately 30% of genetically affected individuals experience at least one cardiac arrest and up to 80% one or more syncopal spells. In untreated patients, the 8-year fatal or near-fatal event rates of 25% have been reported. Sudden death may be the first manifestation of the disease.

Beta-blockers lacking intrinsic sympathomimetic activity are recommended as a first-line therapy in all patients with a clinical diagnosis of CPVT, including those with documented spontaneous, stress-induced VAs. Guidelines differ in their recommendations about utilizing beta-blocker therapy in phenotype negative individuals. Treatment with beta blockers is associated with a reduction in adverse cardiac events. However, variability in outcome with beta-blocker therapy is due to multiple factors, including dosing and compliance. In a study of 101 patients with CPVT (22 diagnosed clinically and 79 diagnosed molecularly), 81 were administered beta-blockers (57 symptomatic and 24 asymptomatic individuals). Estimated 4- and 8-year cardiac event rates were 8% and 27%, respectively in patients taking beta-blockers, and 33% and 58% in those not taking beta blockers (log-rank p=0.01). Corresponding statistics for fatal events were 1% and 11% with beta-blockers vs. 18% and 25% without (log-rank p=0.05). Event rates in asymptomatic patients with a positive genotype were similar to other patients. In multivariate models, absence of beta-blockers was an independent predictor of cardiac events (hazard ratio [HR], 5.48; 95% CI, 1.8 to 16.7, p=0.003) and of fatal events (HR, 5.54; 95% CI, 1.2 to 26.1, p=0.03). Of the 37 asymptomatic patients with a positive genotype, 9 (24%) had cardiac events.

In patients with CPVT and recurrent sustained VT or syncope, while receiving adequate or maximally tolerated beta blocker, treatment intensification with either combination medication therapy (e.g., beta blocker with flecainide), left cardiac sympathetic denervation, and/or an ICD is recommended.

Clinical penetrance ranges from 25 to 100%, with an average of 70 to 80%. Syncope appears to be the first symptom in more than half of the patients. When untreated, mortality from CPVT is high, reaching 30 to 50% by the age of 30 years.

Reviewed with a paediatric cardiologist: variable penetrance and age of onset, does not fulfil criteria for gNBS.
Genomic newborn screening: BabyScreen+ v0.2131 PRKG1 Zornitza Stark changed review comment from: Assessed as 'strong actionability' in paediatric patients by ClinGen.

FTAAD is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection, or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch, or descending aorta).

Variable age of clinical presentation.

Prophylactic surgical repair of the aorta is recommended at 4.5-5.0 cm for patients with pathogenic variants in MYH11, SMAD3, and ACTA2 and at 4.0-4.5 cm for patients with pathogenic variants in TGFBR1 or TGFBR2.

Beta adrenergic-blocking agents are recommended to reduce aortic dilation. Losartan was added as an alternative to beta adrenergic-blocking agents in FTAAD after studies showed its efficacy in children and young adults with MFS who were randomly assigned to losartan or atenolol.

Penetrance: A study of 31 individuals with PRKG1 pathogenic variants indicated that 63% presented with an aortic dissection and 37% had aortic root enlargement. The cumulative risk of an aortic dissection or repair of an aortic aneurysm by age 55 has been estimated as 86% (95% CI: 70-95%).
Sources: ClinGen; to: Assessed as 'strong actionability' in paediatric patients by ClinGen.

FTAAD is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection, or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch, or descending aorta).

Variable age of clinical presentation.

Prophylactic surgical repair of the aorta is recommended at 4.5-5.0 cm for patients with pathogenic variants in MYH11, SMAD3, and ACTA2 and at 4.0-4.5 cm for patients with pathogenic variants in TGFBR1 or TGFBR2.

Beta adrenergic-blocking agents are recommended to reduce aortic dilation. Losartan was added as an alternative to beta adrenergic-blocking agents in FTAAD after studies showed its efficacy in children and young adults with MFS who were randomly assigned to losartan or atenolol.

Penetrance: A study of 31 individuals with PRKG1 pathogenic variants indicated that 63% presented with an aortic dissection and 37% had aortic root enlargement. The cumulative risk of an aortic dissection or repair of an aortic aneurysm by age 55 has been estimated as 86% (95% CI: 70-95%).

Discussed with a paediatric cardiologist: variable penetrance and age of onset, does not fulfil criteria for gNBS.
Sources: ClinGen
Genomic newborn screening: BabyScreen+ v0.2130 MYH11 Zornitza Stark changed review comment from: Assessed as 'strong actionability' in paediatric patients by ClinGen.

FTAAD is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection, or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch, or descending aorta).

Variable age of clinical presentation.

Prophylactic surgical repair of the aorta is recommended at 4.5-5.0 cm for patients with pathogenic variants in MYH11, SMAD3, and ACTA2 and at 4.0-4.5 cm for patients with pathogenic variants in TGFBR1 or TGFBR2.

Beta adrenergic-blocking agents are recommended to reduce aortic dilation. Losartan was added as an alternative to beta adrenergic-blocking agents in FTAAD after studies showed its efficacy in children and young adults with MFS who were randomly assigned to losartan or atenolol.

Penetrance: A study of 12 individuals with MYH11 pathogenic variants indicated that 34% had an aortic dissection and one individual (8%) underwent prophylactic aortic aneurysm repair.; to: Assessed as 'strong actionability' in paediatric patients by ClinGen.

FTAAD is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection, or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch, or descending aorta).

Variable age of clinical presentation.

Prophylactic surgical repair of the aorta is recommended at 4.5-5.0 cm for patients with pathogenic variants in MYH11, SMAD3, and ACTA2 and at 4.0-4.5 cm for patients with pathogenic variants in TGFBR1 or TGFBR2.

Beta adrenergic-blocking agents are recommended to reduce aortic dilation. Losartan was added as an alternative to beta adrenergic-blocking agents in FTAAD after studies showed its efficacy in children and young adults with MFS who were randomly assigned to losartan or atenolol.

Penetrance: A study of 12 individuals with MYH11 pathogenic variants indicated that 34% had an aortic dissection and one individual (8%) underwent prophylactic aortic aneurysm repair.

Reviewed with a paediatric cardiologist: variable penetrance and age of onset, does not meet criteria for gNBS.
Genomic newborn screening: BabyScreen+ v0.2129 LOX Zornitza Stark changed review comment from: Assessed as 'strong actionability' in paediatric patients by ClinGen.

FTAAD is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection, or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch, or descending aorta).

Variable age of clinical presentation.

Prophylactic surgical repair of the aorta is recommended at 4.5-5.0 cm for patients with pathogenic variants in MYH11, SMAD3, and ACTA2 and at 4.0-4.5 cm for patients with pathogenic variants in TGFBR1 or TGFBR2.

Beta adrenergic-blocking agents are recommended to reduce aortic dilation. Losartan was added as an alternative to beta adrenergic-blocking agents in FTAAD after studies showed its efficacy in children and young adults with MFS who were randomly assigned to losartan or atenolol.

Penetrance: A study of 15 individuals with LOX pathogenic variants indicated that 73% had aortic aneurysms and 1 individual (7%) had an aortic dissection.
Sources: ClinGen; to: Assessed as 'strong actionability' in paediatric patients by ClinGen.

FTAAD is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection, or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch, or descending aorta).

Variable age of clinical presentation.

Prophylactic surgical repair of the aorta is recommended at 4.5-5.0 cm for patients with pathogenic variants in MYH11, SMAD3, and ACTA2 and at 4.0-4.5 cm for patients with pathogenic variants in TGFBR1 or TGFBR2.

Beta adrenergic-blocking agents are recommended to reduce aortic dilation. Losartan was added as an alternative to beta adrenergic-blocking agents in FTAAD after studies showed its efficacy in children and young adults with MFS who were randomly assigned to losartan or atenolol.

Penetrance: A study of 15 individuals with LOX pathogenic variants indicated that 73% had aortic aneurysms and 1 individual (7%) had an aortic dissection.

Discussed with paediatric cardiologist: variable penetrance and age of onset, does not fit with criteria for gNBS.
Sources: ClinGen
Genomic newborn screening: BabyScreen+ v0.2124 CALM3 Zornitza Stark changed review comment from: Rated as 'strong actionability' for paediatric patients by ClinGen.

The mean age of onset of symptoms (usually a syncopal episode) of CPVT is between age seven and twelve years; onset as late as the fourth decade of life has been reported. Nearly 60% of patients have at least one syncopal episode before age 40. If untreated, CPVT is highly lethal, as approximately 30% of genetically affected individuals experience at least one cardiac arrest and up to 80% one or more syncopal spells. In untreated patients, the 8-year fatal or near-fatal event rates of 25% have been reported. Sudden death may be the first manifestation of the disease. Instances of sudden infant death syndrome (SIDS) have been associated with pathogenic variants in RYR2.

Individuals with pathogenic variants in CALM1, CALM2 or CALM3 can have a severe phenotype, with earlier onset, QT prolongation, and a high predilection for cardiac arrest and sudden death.

Beta-blockers lacking intrinsic sympathomimetic activity are recommended as a first-line therapy in all patients with a clinical diagnosis of CPVT, including those with documented spontaneous, stress-induced VAs. Guidelines differ in their recommendations about utilizing beta-blocker therapy in phenotype negative individuals. Treatment with beta blockers is associated with a reduction in adverse cardiac events. However, variability in outcome with beta-blocker therapy is due to multiple factors, including dosing and compliance. In a study of 101 patients with CPVT (22 diagnosed clinically and 79 diagnosed molecularly), 81 were administered beta-blockers (57 symptomatic and 24 asymptomatic individuals). Estimated 4- and 8-year cardiac event rates were 8% and 27%, respectively in patients taking beta-blockers, and 33% and 58% in those not taking beta blockers (log-rank p=0.01). Corresponding statistics for fatal events were 1% and 11% with beta-blockers vs. 18% and 25% without (log-rank p=0.05). Event rates in asymptomatic patients with a positive genotype were similar to other patients. In multivariate models, absence of beta-blockers was an independent predictor of cardiac events (hazard ratio [HR], 5.48; 95% CI, 1.8 to 16.7, p=0.003) and of fatal events (HR, 5.54; 95% CI, 1.2 to 26.1, p=0.03). Of the 37 asymptomatic patients with a positive genotype, 9 (24%) had cardiac events.

In patients with CPVT and recurrent sustained VT or syncope, while receiving adequate or maximally tolerated beta blocker, treatment intensification with either combination medication therapy (e.g., beta blocker with flecainide), left cardiac sympathetic denervation, and/or an ICD is recommended.

Clinical penetrance ranges from 25 to 100%, with an average of 70 to 80%. Syncope appears to be the first symptom in more than half of the patients. When untreated, mortality from CPVT is high, reaching 30 to 50% by the age of 30 years.

For review: age of onset and penetrance.
Sources: ClinGen; to: Rated as 'strong actionability' for paediatric patients by ClinGen.

The mean age of onset of symptoms (usually a syncopal episode) of CPVT is between age seven and twelve years; onset as late as the fourth decade of life has been reported. Nearly 60% of patients have at least one syncopal episode before age 40. If untreated, CPVT is highly lethal, as approximately 30% of genetically affected individuals experience at least one cardiac arrest and up to 80% one or more syncopal spells. In untreated patients, the 8-year fatal or near-fatal event rates of 25% have been reported. Sudden death may be the first manifestation of the disease. Instances of sudden infant death syndrome (SIDS) have been associated with pathogenic variants in RYR2.

Individuals with pathogenic variants in CALM1, CALM2 or CALM3 can have a severe phenotype, with earlier onset, QT prolongation, and a high predilection for cardiac arrest and sudden death.

Beta-blockers lacking intrinsic sympathomimetic activity are recommended as a first-line therapy in all patients with a clinical diagnosis of CPVT, including those with documented spontaneous, stress-induced VAs. Guidelines differ in their recommendations about utilizing beta-blocker therapy in phenotype negative individuals. Treatment with beta blockers is associated with a reduction in adverse cardiac events. However, variability in outcome with beta-blocker therapy is due to multiple factors, including dosing and compliance. In a study of 101 patients with CPVT (22 diagnosed clinically and 79 diagnosed molecularly), 81 were administered beta-blockers (57 symptomatic and 24 asymptomatic individuals). Estimated 4- and 8-year cardiac event rates were 8% and 27%, respectively in patients taking beta-blockers, and 33% and 58% in those not taking beta blockers (log-rank p=0.01). Corresponding statistics for fatal events were 1% and 11% with beta-blockers vs. 18% and 25% without (log-rank p=0.05). Event rates in asymptomatic patients with a positive genotype were similar to other patients. In multivariate models, absence of beta-blockers was an independent predictor of cardiac events (hazard ratio [HR], 5.48; 95% CI, 1.8 to 16.7, p=0.003) and of fatal events (HR, 5.54; 95% CI, 1.2 to 26.1, p=0.03). Of the 37 asymptomatic patients with a positive genotype, 9 (24%) had cardiac events.

In patients with CPVT and recurrent sustained VT or syncope, while receiving adequate or maximally tolerated beta blocker, treatment intensification with either combination medication therapy (e.g., beta blocker with flecainide), left cardiac sympathetic denervation, and/or an ICD is recommended.

Clinical penetrance ranges from 25 to 100%, with an average of 70 to 80%. Syncope appears to be the first symptom in more than half of the patients. When untreated, mortality from CPVT is high, reaching 30 to 50% by the age of 30 years.

Exclude for CPVT: association has moderate evidence, there are issues with penetrance, and treatment is generally only recommended in symptomatic individuals.
Sources: ClinGen
Genomic newborn screening: BabyScreen+ v0.2123 CALM2 Zornitza Stark changed review comment from: Rated as 'strong actionability' for paediatric patients by ClinGen.

The mean age of onset of symptoms (usually a syncopal episode) of CPVT is between age seven and twelve years; onset as late as the fourth decade of life has been reported. Nearly 60% of patients have at least one syncopal episode before age 40. If untreated, CPVT is highly lethal, as approximately 30% of genetically affected individuals experience at least one cardiac arrest and up to 80% one or more syncopal spells. In untreated patients, the 8-year fatal or near-fatal event rates of 25% have been reported. Sudden death may be the first manifestation of the disease. Instances of sudden infant death syndrome (SIDS) have been associated with pathogenic variants in RYR2.

Individuals with pathogenic variants in CALM1, CALM2 or CALM3 can have a severe phenotype, with earlier onset, QT prolongation, and a high predilection for cardiac arrest and sudden death.

Beta-blockers lacking intrinsic sympathomimetic activity are recommended as a first-line therapy in all patients with a clinical diagnosis of CPVT, including those with documented spontaneous, stress-induced VAs. Guidelines differ in their recommendations about utilizing beta-blocker therapy in phenotype negative individuals. Treatment with beta blockers is associated with a reduction in adverse cardiac events. However, variability in outcome with beta-blocker therapy is due to multiple factors, including dosing and compliance. In a study of 101 patients with CPVT (22 diagnosed clinically and 79 diagnosed molecularly), 81 were administered beta-blockers (57 symptomatic and 24 asymptomatic individuals). Estimated 4- and 8-year cardiac event rates were 8% and 27%, respectively in patients taking beta-blockers, and 33% and 58% in those not taking beta blockers (log-rank p=0.01). Corresponding statistics for fatal events were 1% and 11% with beta-blockers vs. 18% and 25% without (log-rank p=0.05). Event rates in asymptomatic patients with a positive genotype were similar to other patients. In multivariate models, absence of beta-blockers was an independent predictor of cardiac events (hazard ratio [HR], 5.48; 95% CI, 1.8 to 16.7, p=0.003) and of fatal events (HR, 5.54; 95% CI, 1.2 to 26.1, p=0.03). Of the 37 asymptomatic patients with a positive genotype, 9 (24%) had cardiac events.

In patients with CPVT and recurrent sustained VT or syncope, while receiving adequate or maximally tolerated beta blocker, treatment intensification with either combination medication therapy (e.g., beta blocker with flecainide), left cardiac sympathetic denervation, and/or an ICD is recommended.

Clinical penetrance ranges from 25 to 100%, with an average of 70 to 80%. Syncope appears to be the first symptom in more than half of the patients. When untreated, mortality from CPVT is high, reaching 30 to 50% by the age of 30 years.

For review: age of onset and penetrance.
Sources: ClinGen; to: Rated as 'strong actionability' for paediatric patients by ClinGen.

The mean age of onset of symptoms (usually a syncopal episode) of CPVT is between age seven and twelve years; onset as late as the fourth decade of life has been reported. Nearly 60% of patients have at least one syncopal episode before age 40. If untreated, CPVT is highly lethal, as approximately 30% of genetically affected individuals experience at least one cardiac arrest and up to 80% one or more syncopal spells. In untreated patients, the 8-year fatal or near-fatal event rates of 25% have been reported. Sudden death may be the first manifestation of the disease. Instances of sudden infant death syndrome (SIDS) have been associated with pathogenic variants in RYR2.

Individuals with pathogenic variants in CALM1, CALM2 or CALM3 can have a severe phenotype, with earlier onset, QT prolongation, and a high predilection for cardiac arrest and sudden death.

Beta-blockers lacking intrinsic sympathomimetic activity are recommended as a first-line therapy in all patients with a clinical diagnosis of CPVT, including those with documented spontaneous, stress-induced VAs. Guidelines differ in their recommendations about utilizing beta-blocker therapy in phenotype negative individuals. Treatment with beta blockers is associated with a reduction in adverse cardiac events. However, variability in outcome with beta-blocker therapy is due to multiple factors, including dosing and compliance. In a study of 101 patients with CPVT (22 diagnosed clinically and 79 diagnosed molecularly), 81 were administered beta-blockers (57 symptomatic and 24 asymptomatic individuals). Estimated 4- and 8-year cardiac event rates were 8% and 27%, respectively in patients taking beta-blockers, and 33% and 58% in those not taking beta blockers (log-rank p=0.01). Corresponding statistics for fatal events were 1% and 11% with beta-blockers vs. 18% and 25% without (log-rank p=0.05). Event rates in asymptomatic patients with a positive genotype were similar to other patients. In multivariate models, absence of beta-blockers was an independent predictor of cardiac events (hazard ratio [HR], 5.48; 95% CI, 1.8 to 16.7, p=0.003) and of fatal events (HR, 5.54; 95% CI, 1.2 to 26.1, p=0.03). Of the 37 asymptomatic patients with a positive genotype, 9 (24%) had cardiac events.

In patients with CPVT and recurrent sustained VT or syncope, while receiving adequate or maximally tolerated beta blocker, treatment intensification with either combination medication therapy (e.g., beta blocker with flecainide), left cardiac sympathetic denervation, and/or an ICD is recommended.

Clinical penetrance ranges from 25 to 100%, with an average of 70 to 80%. Syncope appears to be the first symptom in more than half of the patients. When untreated, mortality from CPVT is high, reaching 30 to 50% by the age of 30 years.

Reviewed with paediatric cardiologist: not for inclusion due to issues with penetrance, plus guidelines only generally recommend treatment is symptomatic individuals.
Genomic newborn screening: BabyScreen+ v0.2123 CALM1 Zornitza Stark changed review comment from: Rated as 'strong actionability' for paediatric patients by ClinGen.

The mean age of onset of symptoms (usually a syncopal episode) of CPVT is between age seven and twelve years; onset as late as the fourth decade of life has been reported. Nearly 60% of patients have at least one syncopal episode before age 40. If untreated, CPVT is highly lethal, as approximately 30% of genetically affected individuals experience at least one cardiac arrest and up to 80% one or more syncopal spells. In untreated patients, the 8-year fatal or near-fatal event rates of 25% have been reported. Sudden death may be the first manifestation of the disease. Instances of sudden infant death syndrome (SIDS) have been associated with pathogenic variants in RYR2.

Individuals with pathogenic variants in CALM1, CALM2 or CALM3 can have a severe phenotype, with earlier onset, QT prolongation, and a high predilection for cardiac arrest and sudden death.

Beta-blockers lacking intrinsic sympathomimetic activity are recommended as a first-line therapy in all patients with a clinical diagnosis of CPVT, including those with documented spontaneous, stress-induced VAs. Guidelines differ in their recommendations about utilizing beta-blocker therapy in phenotype negative individuals. Treatment with beta blockers is associated with a reduction in adverse cardiac events. However, variability in outcome with beta-blocker therapy is due to multiple factors, including dosing and compliance. In a study of 101 patients with CPVT (22 diagnosed clinically and 79 diagnosed molecularly), 81 were administered beta-blockers (57 symptomatic and 24 asymptomatic individuals). Estimated 4- and 8-year cardiac event rates were 8% and 27%, respectively in patients taking beta-blockers, and 33% and 58% in those not taking beta blockers (log-rank p=0.01). Corresponding statistics for fatal events were 1% and 11% with beta-blockers vs. 18% and 25% without (log-rank p=0.05). Event rates in asymptomatic patients with a positive genotype were similar to other patients. In multivariate models, absence of beta-blockers was an independent predictor of cardiac events (hazard ratio [HR], 5.48; 95% CI, 1.8 to 16.7, p=0.003) and of fatal events (HR, 5.54; 95% CI, 1.2 to 26.1, p=0.03). Of the 37 asymptomatic patients with a positive genotype, 9 (24%) had cardiac events.

In patients with CPVT and recurrent sustained VT or syncope, while receiving adequate or maximally tolerated beta blocker, treatment intensification with either combination medication therapy (e.g., beta blocker with flecainide), left cardiac sympathetic denervation, and/or an ICD is recommended.

Clinical penetrance ranges from 25 to 100%, with an average of 70 to 80%. Syncope appears to be the first symptom in more than half of the patients. When untreated, mortality from CPVT is high, reaching 30 to 50% by the age of 30 years.

For review: age of onset and penetrance.
Sources: ClinGen; to: Rated as 'strong actionability' for paediatric patients by ClinGen.

The mean age of onset of symptoms (usually a syncopal episode) of CPVT is between age seven and twelve years; onset as late as the fourth decade of life has been reported. Nearly 60% of patients have at least one syncopal episode before age 40. If untreated, CPVT is highly lethal, as approximately 30% of genetically affected individuals experience at least one cardiac arrest and up to 80% one or more syncopal spells. In untreated patients, the 8-year fatal or near-fatal event rates of 25% have been reported. Sudden death may be the first manifestation of the disease. Instances of sudden infant death syndrome (SIDS) have been associated with pathogenic variants in RYR2.

Individuals with pathogenic variants in CALM1, CALM2 or CALM3 can have a severe phenotype, with earlier onset, QT prolongation, and a high predilection for cardiac arrest and sudden death.

Beta-blockers lacking intrinsic sympathomimetic activity are recommended as a first-line therapy in all patients with a clinical diagnosis of CPVT, including those with documented spontaneous, stress-induced VAs. Guidelines differ in their recommendations about utilizing beta-blocker therapy in phenotype negative individuals. Treatment with beta blockers is associated with a reduction in adverse cardiac events. However, variability in outcome with beta-blocker therapy is due to multiple factors, including dosing and compliance. In a study of 101 patients with CPVT (22 diagnosed clinically and 79 diagnosed molecularly), 81 were administered beta-blockers (57 symptomatic and 24 asymptomatic individuals). Estimated 4- and 8-year cardiac event rates were 8% and 27%, respectively in patients taking beta-blockers, and 33% and 58% in those not taking beta blockers (log-rank p=0.01). Corresponding statistics for fatal events were 1% and 11% with beta-blockers vs. 18% and 25% without (log-rank p=0.05). Event rates in asymptomatic patients with a positive genotype were similar to other patients. In multivariate models, absence of beta-blockers was an independent predictor of cardiac events (hazard ratio [HR], 5.48; 95% CI, 1.8 to 16.7, p=0.003) and of fatal events (HR, 5.54; 95% CI, 1.2 to 26.1, p=0.03). Of the 37 asymptomatic patients with a positive genotype, 9 (24%) had cardiac events.

In patients with CPVT and recurrent sustained VT or syncope, while receiving adequate or maximally tolerated beta blocker, treatment intensification with either combination medication therapy (e.g., beta blocker with flecainide), left cardiac sympathetic denervation, and/or an ICD is recommended.

Clinical penetrance ranges from 25 to 100%, with an average of 70 to 80%. Syncope appears to be the first symptom in more than half of the patients. When untreated, mortality from CPVT is high, reaching 30 to 50% by the age of 30 years.

Reviewed with paediatric cardiologist: not for inclusion due to issues with penetrance, plus guidelines only generally recommend treatment is symptomatic individuals.
Genomic newborn screening: BabyScreen+ v0.2121 VAMP1 Zornitza Stark Mode of inheritance for gene: VAMP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.2119 VAMP1 Zornitza Stark Tag treatable tag was added to gene: VAMP1.
Tag neurological tag was added to gene: VAMP1.
Genomic newborn screening: BabyScreen+ v0.2118 TUBB1 Zornitza Stark Tag treatable tag was added to gene: TUBB1.
Tag endocrine tag was added to gene: TUBB1.
Genomic newborn screening: BabyScreen+ v0.2118 TUBB1 Zornitza Stark gene: TUBB1 was added
gene: TUBB1 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: TUBB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBB1 were set to 30446499
Phenotypes for gene: TUBB1 were set to Congenital hypothyroidism, MONDO:0018612, TUBB1-related; Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM # 613112
Review for gene: TUBB1 was set to GREEN
Added comment: At least 3 families reported with congenital hypothyroidism associated with TUBB1 variants. Platelet abnormalities reported.

Treatment: thyroxine.

Non-genetic confirmatory testing: TFTs, blood film.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2116 SLC26A7 Zornitza Stark gene: SLC26A7 was added
gene: SLC26A7 was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, endocrine tags were added to gene: SLC26A7.
Mode of inheritance for gene: SLC26A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC26A7 were set to 34780050; 32486989; 31372509; 30333321
Phenotypes for gene: SLC26A7 were set to Congenital hypothyroidism, MONDO:0018612, SLC26A7-related
Review for gene: SLC26A7 was set to GREEN
Added comment: More than 10 unrelated families reported.

Congenital hypothyroidism.

Treatment: thyroxine.

Should be detected through standard NBS.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2114 OTX2 Zornitza Stark gene: OTX2 was added
gene: OTX2 was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, endocrine tags were added to gene: OTX2.
Mode of inheritance for gene: OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: OTX2 were set to 18728160; 35320640; 33950863
Phenotypes for gene: OTX2 were set to Pituitary hormone deficiency, combined, 6, MIM# 613986
Review for gene: OTX2 was set to GREEN
Added comment: Variants in this gene have been associated with pituitary hormone deficiency with or without microphthalmia, including of TSH.

Congenital onset.

Microphthalmia would present clinically in the newborn period. Infants with TSH deficiency should be detected by standard NBS.

Treatment: thyroxine and other hormone replacements.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2112 HESX1 Zornitza Stark Mode of inheritance for gene: HESX1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.2110 HESX1 Zornitza Stark Tag treatable tag was added to gene: HESX1.
Tag endocrine tag was added to gene: HESX1.
Genomic newborn screening: BabyScreen+ v0.2109 CDCA8 Zornitza Stark gene: CDCA8 was added
gene: CDCA8 was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, endocrine tags were added to gene: CDCA8.
Mode of inheritance for gene: CDCA8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CDCA8 were set to 28025328; 29546359
Phenotypes for gene: CDCA8 were set to Congenital hypothyroidism, MONDO:0018612, CDCA8-related
Review for gene: CDCA8 was set to GREEN
Added comment: 4 families (1 with bilallelic variants [parent affected as HTZ], 3 with monoallelic variants) with functional evidence of variants.

Treatment: thyroxine

Likely to be detected on standard NBS.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2106 FOXN1 Zornitza Stark Mode of inheritance for gene: FOXN1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.2104 FOXN1 Zornitza Stark Tag treatable tag was added to gene: FOXN1.
Tag immunological tag was added to gene: FOXN1.
Genomic newborn screening: BabyScreen+ v0.2103 TMEM38B Zornitza Stark Tag treatable tag was added to gene: TMEM38B.
Tag skeletal tag was added to gene: TMEM38B.
Genomic newborn screening: BabyScreen+ v0.2103 TMEM38B Zornitza Stark gene: TMEM38B was added
gene: TMEM38B was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: TMEM38B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM38B were set to 23054245; 28323974
Phenotypes for gene: TMEM38B were set to Osteogenesis imperfecta, type XIV , MIM#615066
Review for gene: TMEM38B was set to GREEN
Added comment: More than 10 families reported.

Variable severity, onset of fractures generally in infancy.

Treatment: bisphosphanates; improvement in BMD reported.

Non-genetic confirmatory testing: skeletal survey.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2102 SPARC Zornitza Stark gene: SPARC was added
gene: SPARC was added to Baby Screen+ newborn screening. Sources: Expert list
skeletal tags were added to gene: SPARC.
Mode of inheritance for gene: SPARC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPARC were set to 26027498; 34462290
Phenotypes for gene: SPARC were set to Osteogenesis imperfecta, type XVII, MIM# 616507
Review for gene: SPARC was set to RED
Added comment: Established gene-disease association, 5 families reported.

Onset of fractures in infancy.

Prominent neuromuscular features, MRI brain changes; some with ID.

Treatment: bisphosphanates are generally used in OI but the case reports where these have been used do not seem terribly convincing in terms of response/improvement.

Exclude for now.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2099 SP7 Zornitza Stark Mode of inheritance for gene: SP7 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.2097 SP7 Zornitza Stark Tag skeletal tag was added to gene: SP7.
Genomic newborn screening: BabyScreen+ v0.2096 SERPINH1 Zornitza Stark gene: SERPINH1 was added
gene: SERPINH1 was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, skeletal tags were added to gene: SERPINH1.
Mode of inheritance for gene: SERPINH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SERPINH1 were set to 29520608; 25510505; 33524049
Phenotypes for gene: SERPINH1 were set to Osteogenesis imperfecta, type X, MIM# 613848
Review for gene: SERPINH1 was set to GREEN
Added comment: Established gene-disease association.

Onset of fractures is in infancy.

Treatment: bisphosphanates.

Non-genetic confirmatory testing: skeletal survey.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2094 SERPINF1 Zornitza Stark gene: SERPINF1 was added
gene: SERPINF1 was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, skeletal tags were added to gene: SERPINF1.
Mode of inheritance for gene: SERPINF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SERPINF1 were set to 28689307
Phenotypes for gene: SERPINF1 were set to Osteogenesis imperfecta, type VI, MIM# 613982
Review for gene: SERPINF1 was set to GREEN
Added comment: Established gene-disease association.

Onset of fractures is in infancy.

Treatment: bisphosphanates.

Non-genetic confirmatory testing: skeletal survey.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2093 PPIB Zornitza Stark gene: PPIB was added
gene: PPIB was added to Baby Screen+ newborn screening. Sources: Expert list
skeletal tags were added to gene: PPIB.
Mode of inheritance for gene: PPIB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPIB were set to 19781681; 32392875
Phenotypes for gene: PPIB were set to Osteogenesis imperfecta, type IX, MIM# 259440
Review for gene: PPIB was set to RED
Added comment: Established gene-diseases association.

Most reported families have had severe OI, presenting perinatally, therefore exclude.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2090 P3H1 Zornitza Stark gene: P3H1 was added
gene: P3H1 was added to Baby Screen+ newborn screening. Sources: Expert Review
treatable, skeletal tags were added to gene: P3H1.
Mode of inheritance for gene: P3H1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: P3H1 were set to 17277775; 18566967
Phenotypes for gene: P3H1 were set to Osteogenesis imperfecta, type VIII, (MIM# 610915)
Review for gene: P3H1 was set to GREEN
Added comment: More than 15 families reported.

Congenital onset.

Treatment: bisphosphanates.

Non-genetic confirmatory testing: skeletal survey.
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.2088 MESD Zornitza Stark gene: MESD was added
gene: MESD was added to Baby Screen+ newborn screening. Sources: Expert Review
treatable, skeletal tags were added to gene: MESD.
Mode of inheritance for gene: MESD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MESD were set to 31564437; 35092157; 33596325; 31564437
Phenotypes for gene: MESD were set to Osteogenesis imperfecta, type XX, MIM# 618644
Review for gene: MESD was set to GREEN
Added comment: More than 5 families reported.

Severe form of OI, some perinatal lethal.

Treatment: bisphosphanates.

Non-genetic confirmatory testing: skeletal survey.
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.2086 KDELR2 Zornitza Stark gene: KDELR2 was added
gene: KDELR2 was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, skeletal tags were added to gene: KDELR2.
Mode of inheritance for gene: KDELR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KDELR2 were set to Osteogenesis imperfecta 21, MIM# 619131
Review for gene: KDELR2 was set to GREEN
Added comment: 4 families with osteogenesis imperfecta reported with functional studies.

Onset in infancy.

Improvement reported with bisphosphanates, similar to other OI.

Non-genetic confirmatory testing: skeletal survey.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2084 FKBP10 Zornitza Stark Tag treatable tag was added to gene: FKBP10.
Tag skeletal tag was added to gene: FKBP10.
Genomic newborn screening: BabyScreen+ v0.2084 FKBP10 Zornitza Stark gene: FKBP10 was added
gene: FKBP10 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: FKBP10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FKBP10 were set to 34173012
Phenotypes for gene: FKBP10 were set to Osteogenesis imperfecta, type XI, OMIM:610968
Review for gene: FKBP10 was set to GREEN
Added comment: Well established gene-disease association.

Early-onset bone fractures and progressive skeletal deformities.

Treatment: bisphosphanates.

Non-genetic confirmatory testing: skeletal survey.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2082 BMP1 Zornitza Stark gene: BMP1 was added
gene: BMP1 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: BMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BMP1 were set to 33818922
Phenotypes for gene: BMP1 were set to Osteogenesis imperfecta, type XIII , MIM#614856
Review for gene: BMP1 was set to GREEN
Added comment: Rare cause of OI. 20 families reported.

Treatment: bisphosphanates.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2078 SERPING1 Zornitza Stark Tag treatable tag was added to gene: SERPING1.
Tag immunological tag was added to gene: SERPING1.
Genomic newborn screening: BabyScreen+ v0.2077 SGPL1 Zornitza Stark Tag renal tag was added to gene: SGPL1.
Genomic newborn screening: BabyScreen+ v0.2076 SLC1A3 Zornitza Stark Tag neurological tag was added to gene: SLC1A3.
Genomic newborn screening: BabyScreen+ v0.2075 SMARCD2 Zornitza Stark Tag treatable tag was added to gene: SMARCD2.
Tag immunological tag was added to gene: SMARCD2.
Genomic newborn screening: BabyScreen+ v0.2074 SNX10 Zornitza Stark Tag treatable tag was added to gene: SNX10.
Tag skeletal tag was added to gene: SNX10.
Genomic newborn screening: BabyScreen+ v0.2073 SORD Zornitza Stark Tag treatable tag was added to gene: SORD.
Tag metabolic tag was added to gene: SORD.
Genomic newborn screening: BabyScreen+ v0.2072 SOX3 Zornitza Stark Tag for review tag was added to gene: SOX3.
Tag treatable tag was added to gene: SOX3.
Tag endocrine tag was added to gene: SOX3.
Genomic newborn screening: BabyScreen+ v0.2072 STAT1 Zornitza Stark Mode of inheritance for gene: STAT1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.2070 STAT1 Zornitza Stark Tag treatable tag was added to gene: STAT1.
Tag immunological tag was added to gene: STAT1.
Genomic newborn screening: BabyScreen+ v0.2069 STIM1 Zornitza Stark Tag treatable tag was added to gene: STIM1.
Tag immunological tag was added to gene: STIM1.
Genomic newborn screening: BabyScreen+ v0.2068 STK4 Zornitza Stark Tag treatable tag was added to gene: STK4.
Tag immunological tag was added to gene: STK4.
Genomic newborn screening: BabyScreen+ v0.2067 STX16 Zornitza Stark Tag treatable tag was added to gene: STX16.
Tag endocrine tag was added to gene: STX16.
Genomic newborn screening: BabyScreen+ v0.2067 SYT2 Zornitza Stark Mode of inheritance for gene: SYT2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.2065 SYT2 Zornitza Stark Tag treatable tag was added to gene: SYT2.
Tag neurological tag was added to gene: SYT2.
Genomic newborn screening: BabyScreen+ v0.2064 TBL1X Zornitza Stark Tag treatable tag was added to gene: TBL1X.
Tag endocrine tag was added to gene: TBL1X.
Genomic newborn screening: BabyScreen+ v0.2063 TF Zornitza Stark Tag treatable tag was added to gene: TF.
Tag haematological tag was added to gene: TF.
Genomic newborn screening: BabyScreen+ v0.2063 SARS Lilian Downie gene: SARS was added
gene: SARS was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: SARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SARS were set to PMID:34570399, PMID: 34194004
Phenotypes for gene: SARS were set to Neurodevelopmental disorder with microcephaly, ataxia, and seizures MIM#617709
Review for gene: SARS was set to RED
Added comment: developmental delay, deafness, cardiomyopathy, epilepsy, and severe febrile decompensations
Rx serine supplementation - limited evidence and sounds supportive only
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2063 SCARB2 Lilian Downie gene: SCARB2 was added
gene: SCARB2 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: SCARB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCARB2 were set to PMID: 34337151, PMID: 35346091, PMID: 26677510
Phenotypes for gene: SCARB2 were set to Epilepsy, progressive myoclonic 4, with or without renal failure MIM#254900
Review for gene: SCARB2 was set to RED
Added comment: Onset not <5
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2063 SERPING1 Lilian Downie gene: SERPING1 was added
gene: SERPING1 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: SERPING1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SERPING1 were set to PMID: 32898710
Phenotypes for gene: SERPING1 were set to Angioedema, hereditary, 1 and 2 MIM#106100
Review for gene: SERPING1 was set to RED
Added comment: episodic local subcutaneous edema and submucosal edema involving the upper respiratory and gastrointestinal tracts.

Age of onset not typically <5

Treatment Purified C1 inhibitor concentrate (Cinryze, Berinert, HAEGARDA, or Ruconest), Ecallantide (Kalbitor), Icatibant (Firazyr), Lanadelumab, Orladeyo (berotralstat), FFP or solvent-detergent treated plasma, antisense oligonucleotide treatment (donidalorsen)
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2063 SGPL1 Lilian Downie gene: SGPL1 was added
gene: SGPL1 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGPL1 were set to PMID: 28165343
Phenotypes for gene: SGPL1 were set to Nephrotic syndrome, type 14 MIM#617575
Review for gene: SGPL1 was set to RED
Added comment: infancy or early childhood with progressive renal dysfunction associated with focal segmental glomerulosclerosis (FSGS), resulting in end-stage renal disease within a few years. Other infants present with primary adrenal insufficiency. Some patients present in utero with fetal hydrops and fetal demise. Additional features of the disorder can include ichthyosis, acanthosis, adrenal insufficiency, immunodeficiency, and neurologic defects

Rx Hydrocortisone, kidney transplant (treatment doesn't fit screening model as would need to have ESRD before you had it?)
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2063 SLC1A3 Lilian Downie gene: SLC1A3 was added
gene: SLC1A3 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: SLC1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC1A3 were set to PMID: 32754645
Phenotypes for gene: SLC1A3 were set to Episodic ataxia, type 6 MIM#612656
Review for gene: SLC1A3 was set to RED
Added comment: ataxia occurs with febrile illnesses
Episodic attacks lasted 2 to 3 hours and were often associated with nausea, vomiting, photophobia, phonophobia, vertigo, diplopia, and/or slurred speech
Not consistently in children <5 and variable severity

Suggested Rx acetazolamide
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2063 SMARCD2 Lilian Downie gene: SMARCD2 was added
gene: SMARCD2 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: SMARCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMARCD2 were set to PubMed: 28369036, 33279574, 33025377
Phenotypes for gene: SMARCD2 were set to Specific granule deficiency 2 MIM#617475
Review for gene: SMARCD2 was set to GREEN
Added comment: recurrent infections due to defective neutrophil development. Bone marrow findings include paucity of neutrophil granulocytes, absence of granule proteins in neutrophils, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and patients may die in early childhood unless they undergo hematopoietic stem cell transplantation. Most patients have additional findings, including delayed development, mild dysmorphic features, tooth abnormalities, and distal skeletal defects

Rx bone marrow transplant
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2063 SNX10 Lilian Downie gene: SNX10 was added
gene: SNX10 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: SNX10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNX10 were set to PMID: 30885997, PMID: 22499339
Phenotypes for gene: SNX10 were set to Osteopetrosis, autosomal recessive 8 MIM#615085
Review for gene: SNX10 was set to GREEN
Added comment: macrocephaly
failure to thrive
osteopetrosis

Rx bone marrow tranplant
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2063 SORD Lilian Downie gene: SORD was added
gene: SORD was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: SORD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SORD were set to PMID: 32367058
Phenotypes for gene: SORD were set to Sorbitol dehydrogenase deficiency with peripheral neuropathy MIM#618912
Review for gene: SORD was set to RED
Added comment: Slowly progressive, onset not consistently <5

Rx epalrestat and ranirestat
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2063 SOX3 Lilian Downie gene: SOX3 was added
gene: SOX3 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: SOX3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SOX3 were set to PMID: 31678974, PMID: 15800844
Phenotypes for gene: SOX3 were set to Panhypopituitarism, X-linked MIM#312000
Review for gene: SOX3 was set to AMBER
Added comment: Amber in our mendeliome - reviewed for ID
Green in pituitary disorders

Xq27.1 duplication most common mechanism - inclusion might be a question of whether we can detect CNV's in this region

neonatal hypoglycemia and growth hormone deficiency in addition to variable deficiencies of other pituitary hormones. Brain hypoplasia of the anterior pituitary with hypoplasia or absence of the lower half of the infundibulum

Rx Growth hormone, levothyroxine, hydrocortisone
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2063 STAT1 Lilian Downie gene: STAT1 was added
gene: STAT1 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: STAT1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: STAT1 were set to PMID: 31512162, PMID: 27117246
Phenotypes for gene: STAT1 were set to Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive MIM#613796
Review for gene: STAT1 was set to GREEN
Added comment: combined immunodeficiency
autosomal recessive (AR) complete STAT1 deficiency, AR partial STAT1 deficiency, autosomal dominant (AD) STAT1 deficiency, and AD STAT1 gain-of-function.
gain of function mutations - treat rituxomab
complete - treat BMT
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2063 STIM1 Lilian Downie gene: STIM1 was added
gene: STIM1 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: STIM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STIM1 were set to PMID: 26469693, PMID: 30949876, PMID: 26560041
Phenotypes for gene: STIM1 were set to Immunodeficiency 10 MIM612783
Review for gene: STIM1 was set to GREEN
Added comment: recurrent infections in childhood due to defective T- and NK-cell function, although the severity is variable. Affected individuals may also have hypotonia, hypohidrosis, or dental enamel hypoplasia consistent with amelogenesis imperfecta

Rx bone marrow transpant

Age of onset is consistently <5 but the severity of infections is highly variable - treatment if the phenotype is severe
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2063 STK4 Lilian Downie gene: STK4 was added
gene: STK4 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: STK4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STK4 were set to PMID: 22294732
Phenotypes for gene: STK4 were set to T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations MIM#614868
Review for gene: STK4 was set to GREEN
Added comment: primary T-cell immunodeficiency syndrome characterized by progressive loss of naive T cells, recurrent bacterial, viral, and fungal infections, warts, and abscesses, autoimmune manifestations, and cardiac malformations, including atrial septal defect

Rx bone marrow transplant
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2063 STX16 Lilian Downie gene: STX16 was added
gene: STX16 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: STX16 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: STX16 were set to PMID: 33247854, PMID: 34477200, PMID: 29072892
Phenotypes for gene: STX16 were set to Pseudohypoparathyroidism, type IB MIM#603233
Review for gene: STX16 was set to GREEN
Added comment: characterized clinically by isolated renal PTH resistance manifest as hypocalcemia, hyperphosphatemia, and increased serum PTH
without other features of Albright hereditary osteodystrophy
Rx Calcium, calcitriol, levothyroxine, growth hormone
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2063 SYT2 Lilian Downie gene: SYT2 was added
gene: SYT2 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: SYT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SYT2 were set to PMID: 32250532, 32776697
Phenotypes for gene: SYT2 were set to Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive MIM#619461
Review for gene: SYT2 was set to GREEN
Added comment: Bi-allelic disease: 32250532 and 32776697, 8 individuals from 6 families, with biallelic loss of function variants in SYT2, clinically manifesting with severe congenital onset hypotonia and weakness, with variable degrees of respiratory involvement. Electrodiagnostic findings consistent with a presynaptic congenital myasthenic syndrome (CMS) in some. Treatment with an acetylcholinesterase inhibitor pursued in 4 indviduals showed clinical improvement with increased strength and function.

Only report biallelic for newborn screening ?
monoallelic causes a later onset distal weakness/neuropathy phenotype - still childhood but variable or not clear - not consistently <5yrs
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2063 TBL1X Lilian Downie gene: TBL1X was added
gene: TBL1X was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: TBL1X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: TBL1X were set to PMID: 27603907
Phenotypes for gene: TBL1X were set to Hypothyroidism, congenital, nongoitrous, 8 MIM#301033
Review for gene: TBL1X was set to GREEN
Added comment: Small thyroid gland
Detected on newborn screening
Can affect carrier females but more mildly
Association with deafness

Rx thyroxine
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2063 TF Lilian Downie gene: TF was added
gene: TF was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: TF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TF were set to PMID: 32028041, PMID: 19579082, PMID: 11110675
Phenotypes for gene: TF were set to Atransferrinemia MIM#209300
Review for gene: TF was set to GREEN
Added comment: Hypochromic microcytic anaemia from absent transferrin - presents in infancy


Rx Red cell transfusions, deferoxamine
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2062 SAR1B Zornitza Stark gene: SAR1B was added
gene: SAR1B was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, gastrointestinal tags were added to gene: SAR1B.
Mode of inheritance for gene: SAR1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAR1B were set to Chylomicron retention disease, MIM# 246700
Review for gene: SAR1B was set to GREEN
Added comment: Chylomicron retention disease is an autosomal recessive disorder of severe fat malabsorption associated with failure to thrive in infancy. Well established gene-disease association.

Congenital onset.

Treatment: low-fat diet with supplementation of fat-soluble vitamins (A, D, E, and K) and oral essential fatty acid supplementation

Non-genetic confirmatory testing: total cholesterol, triglyceride, LDL-cholesterol, HDL-cholesterol
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2060 SAMD9L Zornitza Stark gene: SAMD9L was added
gene: SAMD9L was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, immunological, haematological tags were added to gene: SAMD9L.
Mode of inheritance for gene: SAMD9L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SAMD9L were set to 31306780
Phenotypes for gene: SAMD9L were set to Ataxia-pancytopenia syndrome, MIM# 159550
Review for gene: SAMD9L was set to GREEN
Added comment: At least three unrelated families reported, some postulate GoF whereas others postulate LoF as mechanism.

Ataxia-pancytopenia syndrome (ATXPC) is an autosomal dominant disorder characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposition to bone marrow failure and myeloid leukemia. The germline genetic defect is associated with somatic loss of chromosome 7 (monosomy 7) resulting in the deletion of several genes on chromosome 7 that may predispose to the development of myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML).

Treatment: BMT.

Non-genetic confirmatory testing: no.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2058 SAMD9 Zornitza Stark gene: SAMD9 was added
gene: SAMD9 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: SAMD9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SAMD9 were set to 31306780
Phenotypes for gene: SAMD9 were set to MIRAGE syndrome, MIM# 617053
Review for gene: SAMD9 was set to GREEN
Added comment: MIRAGE syndrome (MIRAGE) is a form of syndromic adrenal hypoplasia, characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. The condition is often fatal within the first decade of life, usually as a result of invasive infection.

Treatment: BMT.

Non-genetic confirmatory testing: no.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2054 TMEM165 Zornitza Stark Tag metabolic tag was added to gene: TMEM165.
Genomic newborn screening: BabyScreen+ v0.2053 TNFRSF13B Zornitza Stark Tag treatable tag was added to gene: TNFRSF13B.
Tag immunological tag was added to gene: TNFRSF13B.
Genomic newborn screening: BabyScreen+ v0.2052 TNFAIP3 Zornitza Stark Tag treatable tag was added to gene: TNFAIP3.
Tag immunological tag was added to gene: TNFAIP3.
Genomic newborn screening: BabyScreen+ v0.2052 THAP11 Lilian Downie gene: THAP11 was added
gene: THAP11 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: THAP11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: THAP11 were set to PMID: 28449119, PMID: 31905202
Phenotypes for gene: THAP11 were set to Combined methylmalonic acidemia and homocystinuria, cblX like 2
Review for gene: THAP11 was set to RED
Added comment: Single patient?
Not in our mendeliome
Not enough gene disease validity
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2052 TMEM165 Lilian Downie gene: TMEM165 was added
gene: TMEM165 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: TMEM165 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM165 were set to PMID: 28323990, PMID: 35693943, PMID: 22683087
Phenotypes for gene: TMEM165 were set to Congenital disorder of glycosylation, type IIk MIM#614727
Review for gene: TMEM165 was set to AMBER
Added comment: Affected individuals show psychomotor retardation and growth retardation, and most have short stature. Other features include dysmorphism, hypotonia, eye abnormalities, acquired microcephaly, hepatomegaly, and skeletal dysplasia. Serum transferrin analysis shows a CDG type II pattern

Rx D-galactose (single paper, 2 unrelated patients and an in vitro study) ?inadequete evidence for treatment? Might need to check with JC if we would offer it maybe include
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2052 TNFRSF13B Lilian Downie gene: TNFRSF13B was added
gene: TNFRSF13B was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: TNFRSF13B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TNFRSF13B were set to PMID: 31681716, PMID: 18981294
Phenotypes for gene: TNFRSF13B were set to Immunodeficiency, common variable, 2 MIM#240500
Review for gene: TNFRSF13B was set to RED
Added comment: hypogammaglobulinemia with low serum IgG, IgM, and IgA, and recurrent infections, including otitis media, respiratory tract infections, and gastrointestinal tract infections. Serum IgG and IgA were low, and serum antibody response to immunization with pneumococcal vaccine was decreased, although T cell-dependent response to tetanus toxin was normal.

I think the age of onset is too variable .

Rx immunoglobulin
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2052 TNFAIP3 Lilian Downie gene: TNFAIP3 was added
gene: TNFAIP3 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: TNFAIP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TNFAIP3 were set to PMID: 31587140, PMID: 33101300
Phenotypes for gene: TNFAIP3 were set to Autoinflammatory syndrome, familial, Behcet-like 1 MIM#616744
Review for gene: TNFAIP3 was set to RED
Added comment: Average age of onset 5yrs - too variable re age of onset.

painful and recurrent mucosal ulceration affecting the oral mucosa, gastrointestinal tract, and genital areas. The onset of symptoms is usually in the first decade, although later onset has been reported. Additional more variable features include skin rash, uveitis, and polyarthritis, consistent with a systemic hyperinflammatory state. Many patients have evidence of autoimmune disease. Rare patients may also have concurrent features of immunodeficiency, including recurrent infections with low numbers of certain white blood cells or impaired function of immune cells.

Treatment: Colchicine, glucocorticoid, mesalazine, cyclosporine, methotrexate, azathioprine, anakinra, rituximab, tocilizumab, infliximab
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2051 RNPC3 Zornitza Stark gene: RNPC3 was added
gene: RNPC3 was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, endocrine tags were added to gene: RNPC3.
Mode of inheritance for gene: RNPC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNPC3 were set to 29866761; 32462814; 33650182
Phenotypes for gene: RNPC3 were set to Pituitary hormone deficiency, combined or isolated, 7, MIM# 618160
Review for gene: RNPC3 was set to GREEN
Added comment: Three unrelated individuals reported with combined and isolated pituitary hormone deficiencies, including GH and TSH.

Onset: congenital.

Treatment: GH, thyroxine.

Non-genetic confirmatory testing: hormone levels.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2049 RASGRP1 Zornitza Stark gene: RASGRP1 was added
gene: RASGRP1 was added to Baby Screen+ newborn screening. Sources: Literature
treatable, immunological tags were added to gene: RASGRP1.
Mode of inheritance for gene: RASGRP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RASGRP1 were set to Immunodeficiency 64 (MIM#618534)
Review for gene: RASGRP1 was set to GREEN
Added comment: Immunodeficiency-64 with lymphoproliferation (IMD64) is an autosomal recessive primary immunodeficiency characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Laboratory studies show variably decreased numbers of T cells, with lesser deficiencies of B and NK cells. There is impaired T-cell proliferation and activation; functional defects in B cells and NK cells may also be observed. Patients have increased susceptibility to EBV infection and may develop lymphoproliferation or EBV-associated lymphoma. Some patients may develop features of autoimmunity.

Severe disorder, fatal outcomes reported in childhood.

Treatment: BMT.

Non-genetic confirmatory testing: no.
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.2046 RAC2 Zornitza Stark gene: RAC2 was added
gene: RAC2 was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, immunological tags were added to gene: RAC2.
Mode of inheritance for gene: RAC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RAC2 were set to Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopaenia MIM# 618986
Review for gene: RAC2 was set to GREEN
Added comment: Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopaenia
13 individuals from 8 unrelated families; mono-allelic; gain of function; multiple mouse models

Mono-allelic missense variants were reported in each individual (5 x De Novo) and resulted in a gain-of -function. (E62K, P34H, N92T, G12R)

These individuals typically presented in infancy with frequent infections, profound leukopaenia, lymphopaenia diarrhoea and hypogammaglobulinaemia.

SCID-like phenotype.

Treatment: IVIG, BMT

Note evidence for the other two immunodeficiency disorders associated with this gene is limited.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2044 PLS3 Zornitza Stark Tag treatable tag was added to gene: PLS3.
Tag skeletal tag was added to gene: PLS3.
Genomic newborn screening: BabyScreen+ v0.2044 PLS3 Zornitza Stark gene: PLS3 was added
gene: PLS3 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: PLS3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PLS3 were set to 32655496; 25209159; 29736964; 29884797; 28777485; 24088043
Phenotypes for gene: PLS3 were set to Bone mineral density QTL18, osteoporosis - MIM#300910
Review for gene: PLS3 was set to GREEN
Added comment: Females mildly affected: exclude from screening.

Presentation in males similar to OI, though also variable in severity.

Treatment: safe handling techniques, bisphosphonates, pamidronate, zoledronic acid, teriparatide, denosumab, alendronate

Non-genetic confirmatory testing: skeletal survey
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2042 OTULIN Zornitza Stark gene: OTULIN was added
gene: OTULIN was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, immunological tags were added to gene: OTULIN.
Mode of inheritance for gene: OTULIN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OTULIN were set to Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099
Review for gene: OTULIN was set to GREEN
Added comment: Autoinflammation, panniculitis, and dermatosis syndrome (AIPDS) is an autosomal recessive autoinflammatory disease characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy. Additional features may include diarrhea, increased serum C-reactive protein (CRP), leukocytosis, and neutrophilia in the absence of any infection.

Onset is generally in infancy.

Treatment: inflixiimab, anakinra, etanercept, corticosteroids.

Non-genetic confirmatory testing: no.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2040 OAS1 Zornitza Stark gene: OAS1 was added
gene: OAS1 was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, immunological tags were added to gene: OAS1.
Mode of inheritance for gene: OAS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: OAS1 were set to 34145065; 29455859
Phenotypes for gene: OAS1 were set to Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042
Review for gene: OAS1 was set to GREEN
Added comment: Immunodeficiency-100 with pulmonary alveolar proteinosis and hypogammaglobulinemia (IMD100) is primarily a lung disorder characterized by onset of respiratory insufficiency due to pulmonary alveolar proteinosis (PAP) in the first months of life. Affected individuals may have normal respiratory function at birth. Development of the disorder appears to be influenced or triggered by viral infection, manifest as progressive respiratory insufficiency, confluent consolidations on lung imaging, and diffuse collection of periodic acid-Schiff (PAS)-positive material in pulmonary alveoli associated with small and nonfoamy alveolar macrophages. Patients also have hypogammaglobulinemia, leukocytosis, and splenomegaly. Many patients die of respiratory failure in infancy or early childhood.

Treatment: IVIG; BMT is curative.

Non-genetic confirmatory testing: immunoglobulin levels.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2038 NFKBIA Zornitza Stark gene: NFKBIA was added
gene: NFKBIA was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, immunological tags were added to gene: NFKBIA.
Mode of inheritance for gene: NFKBIA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NFKBIA were set to Ectodermal dysplasia and immunodeficiency 2 MIM# 612132
Review for gene: NFKBIA was set to GREEN
Added comment: 12 heterozygous variants were identified in 15 unrelated individuals (de novo in 14 individuals and somatic mosaicism in 1 individual).

Functional studies & two mouse models; demonstrate reported NFKBIA gain-of-function variants resulting in impaired NFKB1 activity.

The majority of individuals displayed recurrent infections, chronic diarrhoea, agammaglobulinaemia, increased IgM, and defects in teeth (hair, nail, sweat glands).

Onset is generally in infancy.

Treatment: BMT.

Non-genetic confirmatory testing: no
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2037 NAXE Zornitza Stark gene: NAXE was added
gene: NAXE was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, metabolic tags were added to gene: NAXE.
Mode of inheritance for gene: NAXE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAXE were set to 27122014; 27616477; 31758406
Phenotypes for gene: NAXE were set to Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, MIM# 617186
Review for gene: NAXE was set to RED
Added comment: Early-onset progressive encephalopathy with brain oedema and/or leukoencephalopathy-1 (PEBEL1) is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures, resulting in coma and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions. More than 5 unrelated families reported.

Treatment: niacin

However, single case reported. Treatment not established.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2035 NAXD Zornitza Stark gene: NAXD was added
gene: NAXD was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, metabolic tags were added to gene: NAXD.
Mode of inheritance for gene: NAXD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAXD were set to 30576410; 31755961; 32462209; 35231119
Phenotypes for gene: NAXD were set to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321
Review for gene: NAXD was set to AMBER
Added comment: Seven unrelated cases, episodes of fever/infection prior to deterioration reported. Variable phenotype: one patient reported with neurodevelopmental disorder, autism spectrum disorder and a muscular-dystrophy-like myopathy; another with progressive encephalopathy with brain oedema. Patient cells and muscle biopsies also showed impaired mitochondrial function, higher sensitivity to metabolic stress, and decreased mitochondrial reactive oxygen species production. In vitro functional assays also conducted.

Treatment: niacin

However, only two cases reported. Treatment not established.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2033 MYD88 Zornitza Stark gene: MYD88 was added
gene: MYD88 was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, immunological tags were added to gene: MYD88.
Mode of inheritance for gene: MYD88 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYD88 were set to 18669862; 20538326; 31301515
Phenotypes for gene: MYD88 were set to Immunodeficiency 68, MIM# 612260
Review for gene: MYD88 was set to GREEN
Added comment: Immunodeficiency-68 (IMD68) is an autosomal recessive primary immunodeficiency characterized by severe systemic and invasive bacterial infections beginning in infancy or early childhood. The most common organisms implicated are Streptococcus pneumoniae, Staphylococcus aureus, and Pseudomonas, although other organisms may be observed.

At least 7 families and a mouse model.

Treatment: Prophylactic antibiotic treatment, pneumococcal, meningococcal, haemophilus influenzae vaccines, and immunoglobulin replacement.

Non-genetic confirmatory testing: toll-like receptor function
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2032 MTHFS Zornitza Stark gene: MTHFS was added
gene: MTHFS was added to Baby Screen+ newborn screening. Sources: Expert list
metabolic tags were added to gene: MTHFS.
Mode of inheritance for gene: MTHFS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTHFS were set to 30031689; 31844630; 22303332
Phenotypes for gene: MTHFS were set to Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367
Review for gene: MTHFS was set to RED
Added comment: Established gene-disease association.

Onset in infancy. Severe disorder.

Treatment: single report of some improvement with combination of oral L-5- methyltetrahydrofolate and intramuscular methylcobalamin
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2030 MTHFD1 Zornitza Stark gene: MTHFD1 was added
gene: MTHFD1 was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, immunological, haematological tags were added to gene: MTHFD1.
Mode of inheritance for gene: MTHFD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTHFD1 were set to 32414565; 19033438
Phenotypes for gene: MTHFD1 were set to Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinaemia MIM # 617780
Review for gene: MTHFD1 was set to GREEN
Added comment: 8 individuals from 4 unrelated families have been reported; multiple mouse models

7 individuals were Compound heterozygous (nonsense & missense) and 1 was homozygous (missense) for MTHFD1 variants often resulting in alteration of highly conserved residues in binding-sites.

Individuals typically present with megaloblastic anaemia, atypical hemolytic uremic syndrome, hyperhomocysteinaemia, microangiopathy, recurrent infections and autoimmune diseases.

Treatment: hydroxocobalamin, folinic acid and betaine

Non-genetic confirmatory testing: T and B Lymphocyte and Natural Killer Cell Profile, complete blood count with MCV, plasma homocysteine and methylmalonic acid levels, CSF
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2028 MNX1 Zornitza Stark gene: MNX1 was added
gene: MNX1 was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, endocrine tags were added to gene: MNX1.
Mode of inheritance for gene: MNX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MNX1 were set to 36586106
Phenotypes for gene: MNX1 were set to Permanent neonatal diabetes mellitus, MONDO:0100164, MNX1-related
Review for gene: MNX1 was set to GREEN
Added comment: Three unrelated families reported. Presentation is in newborn period.

Treatment: insulin.

Non-genetic confirmatory testing: glucose tolerance test, hemoglobin A1C, insulin level, glucose level
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2026 MALT1 Zornitza Stark gene: MALT1 was added
gene: MALT1 was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, immunological tags were added to gene: MALT1.
Mode of inheritance for gene: MALT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MALT1 were set to Immunodeficiency 12 MIM# 615468
Review for gene: MALT1 was set to GREEN
Added comment: 5 individuals from 3 unrelated families with immunodeficiency phenotype have reported variants in MALT1; two MALT1-knockout mouse models displaying primary T- and B-cell lymphocyte deficiency.

Variants identified were homozygous missense variants resulting in the alteration of highly conserved residue domains.

All individuals reported onset in infancy of recurrent bacterial/ fungal/ viral infections leading to bronchiectasis and poor T-cell proliferation.

Treatment: prophylactic antibiotics, IVIG, BMT.

Non-genetic confirmatory testing: no
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2024 MAGT1 Zornitza Stark gene: MAGT1 was added
gene: MAGT1 was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, immunological tags were added to gene: MAGT1.
Mode of inheritance for gene: MAGT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MAGT1 were set to 31036665; 31714901
Phenotypes for gene: MAGT1 were set to Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (MIM# 300853)
Review for gene: MAGT1 was set to GREEN
Added comment: XMEN is an X-linked recessive immunodeficiency characterized by CD4 lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation. Affected individuals have chronic Epstein-Barr virus (EBV) infection and are susceptible to the development of EBV-associated B-cell lymphoproliferative disorders.

Variable age of onset, including in early childhood.

Treatment: Mg supplementation; IVIG, BMT.

Non-genetic confirmatory testing: immunoglobulin levels, T and B Lymphocyte and Natural Killer Cell Profile, Carbohydrate deficient glycosylation profile
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2022 LRBA Zornitza Stark gene: LRBA was added
gene: LRBA was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, immunological tags were added to gene: LRBA.
Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRBA were set to 22608502; 22721650; 25468195; 26206937; 33155142; 31887391
Phenotypes for gene: LRBA were set to Immunodeficiency, common variable, 8, with autoimmunity MIM# 614700
Review for gene: LRBA was set to GREEN
Added comment: Well established gene-disease association.

Generally childhood onset with recurrent infections and autoimmune phenomena.

Treatment: abatacept, BMT.

Non-genetic confirmatory testing: immunoglobulin levels.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2020 LIG1 Zornitza Stark gene: LIG1 was added
gene: LIG1 was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, immunological tags were added to gene: LIG1.
Mode of inheritance for gene: LIG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIG1 were set to 30395541
Phenotypes for gene: LIG1 were set to Immunodeficiency 96, MIM# 619774
Review for gene: LIG1 was set to GREEN
Added comment: Established gene-disease association.

Onset is generally in early childhood.

Presents with recurrent severe infections.

Treatment: IVIG, BMT.

Non-genetic confirmatory testing: immunoglobulin levels, T and B Lymphocyte and Natural Killer Cell Profile, complete blood count
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2018 LEP Zornitza Stark gene: LEP was added
gene: LEP was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, endocrine tags were added to gene: LEP.
Mode of inheritance for gene: LEP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LEP were set to 26567097
Phenotypes for gene: LEP were set to Obesity, morbid, due to leptin deficiency (MIM#614962)
Review for gene: LEP was set to GREEN
Added comment: Established gene-disease association.

Onset is in infancy/early childhood. Similar disorders included.

Treatment: metreleptin.

Non-genetic confirmatory testing: leptin level.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2016 JAGN1 Zornitza Stark gene: JAGN1 was added
gene: JAGN1 was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, immunological tags were added to gene: JAGN1.
Mode of inheritance for gene: JAGN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: JAGN1 were set to 25129144
Phenotypes for gene: JAGN1 were set to Neutropenia, severe congenital, 6, autosomal recessive, MIM# 616022
Review for gene: JAGN1 was set to GREEN
Added comment: Established gene-disease association.

Typically presents in early childhood with severe infections.

Treatment: G-CSF, BMT.

Non-genetic confirmatory testing: complete blood count, bone marrow aspiration and biopsy
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2013 ITK Zornitza Stark gene: ITK was added
gene: ITK was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, immunological tags were added to gene: ITK.
Mode of inheritance for gene: ITK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITK were set to Lymphoproliferative syndrome 1, MIM# 613011
Review for gene: ITK was set to GREEN
Added comment: 7 individuals from 5 unrelated families reported homozygous (missense/ nonsense) ITK variants consistent with Lymphoproliferative syndrome phenotype. Triggered by EBV infection.

Two ITK-deficient mouse models demonstrated reduced T cells (CD4+), causing decreased CD4 to CD8 ratio.

Patients displayed early onset of features typically including fever, lymphadenopathy, autoimmune disorders, low immunoglobulins and high EBV viral load.

Fatal without BMT.

Non-genetic confirmatory testing: immunoglobulin levels, T and B Lymphocyte and Natural Killer Cell Profile.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2011 IRS4 Zornitza Stark gene: IRS4 was added
gene: IRS4 was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, endocrine tags were added to gene: IRS4.
Mode of inheritance for gene: IRS4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: IRS4 were set to 30061370
Phenotypes for gene: IRS4 were set to Hypothyroidism, congenital, nongoitrous, 9, MIM# 301035
Review for gene: IRS4 was set to GREEN
Added comment: Nongoitrous congenital hypothyroidism-9 (CHNG9) is characterized by a small thyroid gland with low free T4 (FT4) levels and inappropriately normal levels of thyroid-stimulating hormone (TSH). Five unrelated families reported.

Most identified through standard NBS.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2010 TNFRSF13C Lilian Downie gene: TNFRSF13C was added
gene: TNFRSF13C was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: TNFRSF13C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNFRSF13C were set to PMID: 19666484, PMID: 27250108, PMID: 18025937
Phenotypes for gene: TNFRSF13C were set to Immunodeficiency, common variable, 4 MIM#613494
Review for gene: TNFRSF13C was set to RED
Added comment: Amber in our mendeliome
Later childhood or adult onset.
BAFFR deficiency in humans is characterized by very few circulating B cells, very low IgM and IgG serum concentrations but normal or high IgA levels.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2009 IL36RN Zornitza Stark gene: IL36RN was added
gene: IL36RN was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, immunological tags were added to gene: IL36RN.
Mode of inheritance for gene: IL36RN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL36RN were set to 31286990
Phenotypes for gene: IL36RN were set to Psoriasis 14, pustular, MIM# 614204
Review for gene: IL36RN was set to GREEN
Added comment: Generalized pustular psoriasis (GPP) is a life-threatening disease characterized by sudden, repeated episodes of high-grade fever, generalized rash, and disseminated pustules, with hyperleukocytosis and elevated serum levels of C-reactive protein.

Variable age of onset but predominantly in infancy/early childhood.

Treatment: ustekinumab, secukinumab, etanercept.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2007 IL2RA Zornitza Stark gene: IL2RA was added
gene: IL2RA was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, immunological tags were added to gene: IL2RA.
Mode of inheritance for gene: IL2RA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL2RA were set to Immunodeficiency 41 with lymphoproliferation and autoimmunity, MIM# 606367
Review for gene: IL2RA was set to GREEN
Added comment: Immunodeficiency-41 is a disorder of immune dysregulation. Affected individuals present in infancy with recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features, such as autoimmune enteropathy and eczematous skin lesions. Immunologic studies show a defect in T-cell regulation.

At least 4 unrelated families reported.

Treatment: rapamycin, bone marrow transplant.

Confirmatory non-genetic testing: flow cytometric analysis.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2005 IL21R Zornitza Stark gene: IL21R was added
gene: IL21R was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, immunological tags were added to gene: IL21R.
Mode of inheritance for gene: IL21R was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL21R were set to Immunodeficiency 56, MIM# 615207
Review for gene: IL21R was set to GREEN
Added comment: Biallelic inactivating mutations in IL21R causes a combined immunodeficiency that is often complicated by cryptosporidium infections.

More than 20 individuals reported. Recent series of 13 individuals: the main clinical manifestations were recurrent bacterial (84.6%), fungal (46.2%), and viral (38.5%) infections; cryptosporidiosis-associated cholangitis (46.2%); and asthma (23.1%). Inflammatory skin diseases (15.3%) and recurrent anaphylaxis (7.9%) constitute novel phenotypes of this combined immunodeficiency. Most patients exhibited hypogammaglobulinaemia and reduced proportions of memory B cells, circulating T follicular helper cells, MAIT cells and terminally differentiated NK cells. However, IgE levels were elevated in 50% of IL-21R-deficient patients.

Onset: infancy/early childhood.

Treatment: BMT.

Non-genetic confirmatory testing: immunoglobulin levels.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2003 IL1RN Zornitza Stark gene: IL1RN was added
gene: IL1RN was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, immunological tags were added to gene: IL1RN.
Mode of inheritance for gene: IL1RN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL1RN were set to Interleukin 1 receptor antagonist deficiency, MIM# 612852
Review for gene: IL1RN was set to GREEN
Added comment: Severe immunodeficiency, onset in infancy. Multi-system involvement, can be fatal if untreated.

Treatment: anakinra, etanercept, methotrexate, corticosteroid
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2001 IKZF1 Zornitza Stark Tag treatable tag was added to gene: IKZF1.
Tag immunological tag was added to gene: IKZF1.
Genomic newborn screening: BabyScreen+ v0.2001 IKZF1 Zornitza Stark gene: IKZF1 was added
gene: IKZF1 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: IKZF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: IKZF1 were set to Immunodeficiency, common variable, 13 MIM# 616873
Added comment: Over 25 individuals from 9 unrelated families with variants in IKZF1 displaying Immunodeficiency; three mouse models Heterozygous missense, frameshift and deletion variants in IKZF1 gene resulting in loss or alteration of a zinc finger DNA contact site cause LoF. Typically presents with recurrent bacterial respiratory infections, hypogammaglobulinaemia and low Ig levels; variable age of onset.

PMID 35333544: Eight individuals harboring heterozygous IKZF1R183H or IKZF1R183C variants associated with GOF effects reported. The clinical phenotypes and pathophysiology associated with IKZF1R183H/C differ from those of previously reported patients with IKZF1HI, IKZF1DN, and IKZF1DD and should therefore be considered as a novel IKAROS-associated disease entity. This condition is characterized by immune dysregulation manifestations including inflammation, autoimmunity, atopy, and polyclonal PC proliferation.

Included primarily for LoF phenotype.

Treatment: IVIG and BMT.

Non-genetic confirmatory testing: immunoglobulin levels
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1999 IKBKB Zornitza Stark gene: IKBKB was added
gene: IKBKB was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, immunological tags were added to gene: IKBKB.
Mode of inheritance for gene: IKBKB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IKBKB were set to Immunodeficiency 15B, MIM# 615592
Review for gene: IKBKB was set to GREEN
Added comment: Primary immunodeficiency disorder characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections and failure to thrive. Laboratory studies show hypo- or agammaglobulinaemia with relatively normal numbers of B and T cells.

Treatment: bone marrow transplant.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1997 IFNGR2 Zornitza Stark gene: IFNGR2 was added
gene: IFNGR2 was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, immunological tags were added to gene: IFNGR2.
Mode of inheritance for gene: IFNGR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFNGR2 were set to Immunodeficiency 28, mycobacteriosis, MIM# 614889
Review for gene: IFNGR2 was set to AMBER
Added comment: At least 5 unrelated families reported.

Commonest trigger is BCG vaccination, which is not part of the routine schedule in Australia, therefore exclude.

Treatment: BMT; avoidance of BCG.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1995 IFNGR1 Zornitza Stark Tag treatable tag was added to gene: IFNGR1.
Tag immunological tag was added to gene: IFNGR1.
Genomic newborn screening: BabyScreen+ v0.1995 IFNGR1 Zornitza Stark gene: IFNGR1 was added
gene: IFNGR1 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: IFNGR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: IFNGR1 were set to Immunodeficiency 27A, mycobacteriosis, AR, MIM# 209950; Immunodeficiency 27B, mycobacteriosis, AD, MIM# 615978
Review for gene: IFNGR1 was set to AMBER
Added comment: Variable age of onset. Most common precipitant is BCG vaccination, which is not part of the routine schedule in Australia, therefore exclude.

Treatment: BMT; avoidance of BCG.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1993 IFITM5 Zornitza Stark gene: IFITM5 was added
gene: IFITM5 was added to Baby Screen+ newborn screening. Sources: Expert list
5'UTR, treatable, skeletal tags were added to gene: IFITM5.
Mode of inheritance for gene: IFITM5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IFITM5 were set to 22863190; 22863195; 32383316; 24519609
Phenotypes for gene: IFITM5 were set to Osteogenesis imperfecta, type V MIM#610967
Review for gene: IFITM5 was set to GREEN
Added comment: A recurrent c.-14C>T variant has been reported in many patients with type V OI. It introduces an alternative in-frame start codon upstream that is stronger than the reference start codon in transfected HEK cells (PMIDs: 22863190, 22863195). However, the effect of mutant protein (5 amino acids longer) remains unknown but neomorphic mechanism is a widely accepted hypothesis (PMIDs: 25251575, 32383316).

Variable severity, including within families. However, severe perinatal presentations reported.

Treatment: bisphosphanates.

Non-genetic confirmatory testing: skeletal survey.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1991 ICOS Zornitza Stark gene: ICOS was added
gene: ICOS was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, immunological tags were added to gene: ICOS.
Mode of inheritance for gene: ICOS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ICOS were set to Immunodeficiency, common variable, 1 MIM# 607594
Review for gene: ICOS was set to GREEN
Added comment: 15 affected individuals from 8 unrelated families reported with ICOS variants and displayed immunodeficiency, common variable, 1 phenotype; three mouse models.

Homozygous and compound heterozygous deletion and missense variants, with the most frequent variant being a 442 nucleotide deletion.

Patients typically presented with recurrent bacterial respiratory & gastrointestinal infections and low IgG/IgA.

Congenital onset.

Treatment: replacement immunoglobulin treatment, bone marrow transplant.

Non-genetic confirmatory testing: immunoglobulin levels.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1989 IARS Zornitza Stark Tag treatable tag was added to gene: IARS.
Tag metabolic tag was added to gene: IARS.
Genomic newborn screening: BabyScreen+ v0.1989 IARS Zornitza Stark gene: IARS was added
gene: IARS was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: IARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IARS were set to 27426735; 34194004
Phenotypes for gene: IARS were set to Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093
Review for gene: IARS was set to AMBER
Added comment: Established gene-disease association.

Congenital, multi-system metabolic disorder.

N=1 study of Isoleucine supplementation and protein fortification (2.5mg/kg/day, during illness 3.5 g/kg/day) with some clinical improvement.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1985 TPK1 Zornitza Stark Tag treatable tag was added to gene: TPK1.
Tag metabolic tag was added to gene: TPK1.
Genomic newborn screening: BabyScreen+ v0.1984 TRNT1 Zornitza Stark Tag treatable tag was added to gene: TRNT1.
Tag immunological tag was added to gene: TRNT1.
Genomic newborn screening: BabyScreen+ v0.1983 TRPM6 Zornitza Stark Tag treatable tag was added to gene: TRPM6.
Tag endocrine tag was added to gene: TRPM6.
Genomic newborn screening: BabyScreen+ v0.1982 TNFRSF1A Lilian Downie gene: TNFRSF1A was added
gene: TNFRSF1A was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: TNFRSF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TNFRSF1A were set to PMID: 11175303, PMID: 32066461, PMID: 29773275, PMID: 32831641
Phenotypes for gene: TNFRSF1A were set to Periodic fever, familial MIM#142680
Penetrance for gene: TNFRSF1A were set to Incomplete
Review for gene: TNFRSF1A was set to RED
Added comment: Strong gene disease association
Childhood onset but age not consistently under 5 and cases of adult onset
reports of variable penetrance
Rx
NSAIDs, corticosteroids, Etanercept , anakinra, canakinumab, tocilizumab

because there is no non-molecular confirmatory test I think should be red for variability of age of onset and severity of symptoms.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1982 TOP2B Lilian Downie gene: TOP2B was added
gene: TOP2B was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: TOP2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TOP2B were set to PMID: 31409799, PMID: 35063500, PMID: 32128574, PMID: 33459963
Phenotypes for gene: TOP2B were set to B-cell immunodeficiency, distal limb anomalies, and urogenital malformations MIM#609296
Review for gene: TOP2B was set to AMBER
Added comment: congenital onset
humoral immunodeficiency with undetectable B cells, distal limb anomalies, dysmorphic facial features, and urogenital malformations

Treatment immunoglobulin (only partially treats phenotype) no literature for evidence around immunoglobulin treatment.

Suggest RED but maybe discuss with immunologist?
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1982 TPK1 Lilian Downie gene: TPK1 was added
gene: TPK1 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: TPK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TPK1 were set to PMID: 33086386, 32679198, 22152682, PMID: 33231275
Phenotypes for gene: TPK1 were set to Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) MIM#614458
Review for gene: TPK1 was set to GREEN
Added comment: Strong gene disease association
Variable age of onset but always under 5years

Thiamine metabolism dysfunction syndrome-5 (THMD5) is an autosomal recessive metabolic disorder due to an inborn error of thiamine metabolism. The phenotype is highly variable, but in general, affected individuals have onset in early childhood of acute encephalopathic episodes associated with increased serum and CSF lactate. These episodes result in progressive neurologic dysfunction manifest as gait disturbances, ataxia, dystonia, and spasticity, which in some cases may result in loss of ability to walk. Cognitive function is usually preserved, although mildly delayed development has been reported. These episodes are usually associated with infection and metabolic decompensation. Some patients may have recovery of some neurologic deficits (Mayr et al., 2011).

Biotin and thiamine therapy - newer evidence (2021) suggests early thiamine therapy may prevent any neurologic deficits.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1982 TRNT1 Lilian Downie gene: TRNT1 was added
gene: TRNT1 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: TRNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRNT1 were set to PMID: 25193871, PMID: 23553769, PMID: 33936027, PMID: 26494905
Phenotypes for gene: TRNT1 were set to Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay MIM#616084
Review for gene: TRNT1 was set to AMBER
Added comment: Onset infancy
Strong gene disease association

Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) is an autosomal recessive syndromic disorder characterized by onset of severe sideroblastic anemia in the neonatal period or infancy. Affected individuals show delayed psychomotor development with variable neurodegeneration. Recurrent periodic fevers without an infectious etiology occur throughout infancy and childhood; immunologic work-up shows B-cell lymphopenia and hypogammaglobulinemia. Other more variable features include sensorineural hearing loss, retinitis pigmentosa, nephrocalcinosis, and cardiomyopathy. Death in the first decade may occur (summary by Wiseman et al., 2013).

Bone marrow transplant (hematopoietic stem cell transplantation (HSCT)), replacement immunoglobulin treatment

Allelic disease: Retinitis pigmentosa and erythrocytic microcytosis MIM#616959. Also AR.
DeLuca et al. (2016) concluded that hypomorphic TRNT1 mutations can cause a recessive disease that is almost entirely limited to the retina - this has teenage onset and is not treatable. can we exclude these variants?
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1982 TRPM6 Lilian Downie gene: TRPM6 was added
gene: TRPM6 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: TRPM6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRPM6 were set to PMID: 35903165, PMID: 18818955
Phenotypes for gene: TRPM6 were set to Hypomagnesemia 1, intestinal MIM#602014
Review for gene: TRPM6 was set to GREEN
Added comment: Hypomagnaesemia and hypocalcaemia
Hypocalcemia is a secondary consequence of parathyroid failure and parathyroid hormone resistance as a result of severe magnesium deficiency. The disease typically manifests during the first months of life with generalized convulsions or signs of increased neuromuscular excitability, such as muscle spasms or tetany. Untreated, the disease may be fatal or lead to severe neurologic damage. Treatment includes immediate administration of magnesium, usually intravenously, followed by life-long high-dose oral magnesium (review by Knoers, 2009).
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1981 UNG Zornitza Stark Tag treatable tag was added to gene: UNG.
Tag immunological tag was added to gene: UNG.
Genomic newborn screening: BabyScreen+ v0.1980 UMPS Zornitza Stark Tag for review tag was added to gene: UMPS.
Tag treatable tag was added to gene: UMPS.
Tag metabolic tag was added to gene: UMPS.
Genomic newborn screening: BabyScreen+ v0.1979 NLGN4X Zornitza Stark Mode of inheritance for gene: NLGN4X was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1977 HSD11B2 Zornitza Stark gene: HSD11B2 was added
gene: HSD11B2 was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, endocrine tags were added to gene: HSD11B2.
Mode of inheritance for gene: HSD11B2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD11B2 were set to Apparent mineralocorticoid excess, MIM# 218030; MONDO:0009025
Review for gene: HSD11B2 was set to GREEN
Added comment: Apparent mineralocorticoid excess (AME) is an autosomal recessive form of low-renin hypertension associated with low aldosterone, metabolic alkalosis, hypernatremia, and hypokalemia. The disorder is due to a congenital defect in 11-beta-hydroxysteroid dehydrogenase type II (HSD11B2) activity, resulting in decreased conversion of biologically active cortisol to inactive cortisone; this defect allows cortisol to act as a ligand for the mineralocorticoid receptor, resulting in sodium retention and volume expansion. There is a favorable therapeutic response to spironolactone. More than 10 unrelated families reported.

Onset is usually in infancy or early childhood.

Non-genetic confirmatory testing: aldosterone, renin, potassium levels
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1975 HOGA1 Zornitza Stark gene: HOGA1 was added
gene: HOGA1 was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, metabolic tags were added to gene: HOGA1.
Mode of inheritance for gene: HOGA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HOGA1 were set to 20797690; 21896830; 22391140
Phenotypes for gene: HOGA1 were set to Hyperoxaluria, primary, type III MIM#613616
Review for gene: HOGA1 was set to GREEN
Added comment: Well-established association with primary hyperoxaluria type III. c.700+5G>T is a recurrent pathogenic variant in European populations (possibly founder) and has high frequency in gnomad (0.2-0.3%).

Onset in infancy, progressive multi-system disorder.

Treatment: pyridoxine, drinking large volumes, alkalinzation of urine, pyrophosphate-containing solutions, liver-kidney transplant

Non-genetic confirmatory testing: urinary oxalate
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1974 UMPS Lilian Downie gene: UMPS was added
gene: UMPS was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: UMPS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UMPS were set to PMID: 9042911, PMID: 28205048, PMID: 25757096, PMID: 33489760
Phenotypes for gene: UMPS were set to Orotic aciduria MIM#258900
Review for gene: UMPS was set to GREEN
Added comment: megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and mental retardation. These features respond to appropriate pyrimidine replacement therapy, and most cases appear to have a good prognosis. A minority of cases have additional features, particularly congenital malformations and immune deficiencies, which may adversely affect this prognosis (summary by Webster et al., 2001).

Treat uridine
Very rare only 20 cases but treatable.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1974 UNG Lilian Downie gene: UNG was added
gene: UNG was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: UNG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UNG were set to PubMed: 12958596, PMID: 15967827, PMID: 19202054, PMID: 16860315
Phenotypes for gene: UNG were set to Immunodeficiency with hyper IgM, type 5 MIM#608106
Review for gene: UNG was set to RED
Added comment: normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations.
susceptibility to bacterial infections, lymphoid hyperplasia
only 3 patients reported in a single paper ?
Rx immunoglobulin replacement according to Rx genes but I can't find actual papers - i don't think there is enough evidence regarding age of onset or treatability.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1973 HELLS Zornitza Stark Tag treatable tag was added to gene: HELLS.
Tag immunological tag was added to gene: HELLS.
Genomic newborn screening: BabyScreen+ v0.1973 HELLS Zornitza Stark gene: HELLS was added
gene: HELLS was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: HELLS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HELLS were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 4, MIM# 616911
Review for gene: HELLS was set to GREEN
Added comment: Congenital onset.

Immunodeficiency-centromeric instability-facial anomalies syndrome-4 is characterized by recurrent infections in childhood and variable dysmorphic facial features. Laboratory studies show hypomethylation of certain chromosomal regions. Additional features, including delayed development, are variable. At least 4 unrelated families reported.

Treatment: bone marrow transplant.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1971 VKORC1 Zornitza Stark Mode of inheritance for gene: VKORC1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1969 VKORC1 Zornitza Stark Tag treatable tag was added to gene: VKORC1.
Tag haematological tag was added to gene: VKORC1.
Genomic newborn screening: BabyScreen+ v0.1968 WDR1 Zornitza Stark Tag treatable tag was added to gene: WDR1.
Tag immunological tag was added to gene: WDR1.
Tag haematological tag was added to gene: WDR1.
Genomic newborn screening: BabyScreen+ v0.1967 GPIHBP1 Zornitza Stark Tag treatable tag was added to gene: GPIHBP1.
Tag metabolic tag was added to gene: GPIHBP1.
Genomic newborn screening: BabyScreen+ v0.1967 GPIHBP1 Zornitza Stark gene: GPIHBP1 was added
gene: GPIHBP1 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: GPIHBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPIHBP1 were set to 31390500
Phenotypes for gene: GPIHBP1 were set to Hyperlipoproteinemia, type 1D MIM#615947; familial chylomicronemia syndrome
Review for gene: GPIHBP1 was set to GREEN
Added comment: Well-established gene-disease association.

Usually presents in childhood with episodes of abdominal pain, recurrent acute pancreatitis, eruptive cutaneous xanthomata, and hepatosplenomegaly.

Approximately 25% of affected children develop symptoms before age one year and the majority develop symptoms before age ten years; however, some individuals present for the first time during pregnancy.

Treatment: volanesorsen, dietary fat restriction

Non-genetic confirmatory testing: triglyceride level
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1965 GHRHR Zornitza Stark Tag treatable tag was added to gene: GHRHR.
Tag endocrine tag was added to gene: GHRHR.
Genomic newborn screening: BabyScreen+ v0.1965 GHRHR Zornitza Stark gene: GHRHR was added
gene: GHRHR was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: GHRHR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GHRHR were set to 8528260; 10084571; 11232012
Phenotypes for gene: GHRHR were set to Growth hormone deficiency, isolated, type IV, MIM# 618157
Review for gene: GHRHR was set to GREEN
Added comment: IGHD type IV is characterized by early and severe growth failure (height SDS up to -7.4), a blunted growth hormone (GH) response to different provocation tests and low insulin-like growth factor-I and IGF-binding protein-3 concentrations, and a good response to growth hormone treatment. At least three unrelated families reported.

Non-genetic confirmatory testing: growth hormone stimulation test
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1963 GHR Zornitza Stark Tag treatable tag was added to gene: GHR.
Tag endocrine tag was added to gene: GHR.
Genomic newborn screening: BabyScreen+ v0.1963 GHR Zornitza Stark gene: GHR was added
gene: GHR was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: GHR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GHR were set to Growth hormone insensitivity, partial, MIM# 604271; Laron dwarfism, MIM# 262500
Review for gene: GHR was set to GREEN
Added comment: Well established gene-disease association.

Congenital onset.

Treatment: growth hormone.

Non-genetic confirmatory testing: growth hormone stimulation test
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1961 GH1 Zornitza Stark Tag treatable tag was added to gene: GH1.
Tag endocrine tag was added to gene: GH1.
Genomic newborn screening: BabyScreen+ v0.1961 GH1 Zornitza Stark gene: GH1 was added
gene: GH1 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: GH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GH1 were set to Growth hormone deficiency, isolated, type IA, MIM# 262400; Growth hormone deficiency, isolated, type II, MIM# 173100; Kowarski syndrome, MIM# 262650
Review for gene: GH1 was set to GREEN
Added comment: Well established gene-disease association. Congenital onset.

Treatment: growth hormone.

Non-genetic confirmatory test: growth hormone stimulation test
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1959 GFI1 Zornitza Stark gene: GFI1 was added
gene: GFI1 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: GFI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GFI1 were set to 12778173; 20560965; 11810106; 22684987
Phenotypes for gene: GFI1 were set to Neutropenia, severe congenital 2, autosomal dominant, MIM# 613107
Review for gene: GFI1 was set to GREEN
Added comment: At least three unrelated families reported, and supportive functional data.

Severe congenital immunodeficiency.

Treatment: granulocyte colony-stimulating factor (G-CSF), Bone marrow transplant

Non-genetic confirmatory testing: FBE.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1958 USP18 Lilian Downie gene: USP18 was added
gene: USP18 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: USP18 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USP18 were set to PMID: 31940699, 27325888, 12833411
Phenotypes for gene: USP18 were set to Pseudo-TORCH syndrome 2 MIM#617397
Review for gene: USP18 was set to AMBER
Added comment: antenatal onset of intracranial hemorrhage, calcification, brain malformations, liver dysfunction, and often thrombocytopenia. Affected individuals tend to have respiratory insufficiency and seizures, and die in infancy. The phenotype resembles the sequelae of intrauterine infection, but there is no evidence of an infectious agent. The disorder results from inappropriate activation of the interferon (IFN) immunologic pathway

Treatment Ruxolitinib (single patient only) - is a single patient with successful treatment enough?
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1958 VKORC1 Lilian Downie gene: VKORC1 was added
gene: VKORC1 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: VKORC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: VKORC1 were set to PMID:14765194, PMID: 26287237
Phenotypes for gene: VKORC1 were set to Vitamin K-dependent clotting factors, combined deficiency of, 2 MIM#607473
Review for gene: VKORC1 was set to AMBER
Added comment: Risk of intracranial haemmorhage in first weeks of life
Treatable with vitamin K
See below summary - feels like should be green for that homozygous mutation but not sure how to manage the gene overall? not report other variants?
Monoallelic - warfarin resistance

There is only one mutation known to result in the VKCFD2 phenotype. VKORC1:p.Arg98Trp causes diminished vitamin K epoxide reductase (VKOR) activity compared to that of the wild-type enzyme [15]. VKCFD2 patients exhibit severely diminished activities for the VKD coagulation factors and suffer spontaneous or surgery/injury induced bleeding episodes [16,17]. In addition to this haemorrhagic phenotype, abnormalities in epiphyseal growth have been reported in one case [18]. This phenotype is very rare. Worldwide, there are only four unrelated families known to be affected with VKCFD2 [16,17,18].
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1958 WDR1 Lilian Downie gene: WDR1 was added
gene: WDR1 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: WDR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR1 were set to PMID: 32960541, 27994071, 27557945
Phenotypes for gene: WDR1 were set to Periodic fever, immunodeficiency, and thrombocytopenia syndrome MIM#150550
Review for gene: WDR1 was set to GREEN
Added comment: Strong gene disease association
Phenotype is early onset immunodeficiency with infections ++ and severe stomatitis
Treatable with bone marrow transplant.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1956 WDR72 Zornitza Stark Tag treatable tag was added to gene: WDR72.
Tag renal tag was added to gene: WDR72.
Genomic newborn screening: BabyScreen+ v0.1955 WIPF1 Zornitza Stark Tag treatable tag was added to gene: WIPF1.
Tag immunological tag was added to gene: WIPF1.
Tag haematological tag was added to gene: WIPF1.
Genomic newborn screening: BabyScreen+ v0.1954 WNK4 Zornitza Stark Tag treatable tag was added to gene: WNK4.
Tag endocrine tag was added to gene: WNK4.
Genomic newborn screening: BabyScreen+ v0.1953 ZBTB24 Zornitza Stark Tag treatable tag was added to gene: ZBTB24.
Tag immunological tag was added to gene: ZBTB24.
Genomic newborn screening: BabyScreen+ v0.1952 WDR72 Lilian Downie gene: WDR72 was added
gene: WDR72 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: WDR72 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR72 were set to PMID: 30028003, PMID: 30779877, PMID:36836560, PMID: 33033857
Phenotypes for gene: WDR72 were set to Distal renal tubular acidosis
Review for gene: WDR72 was set to GREEN
Added comment: Amelogenesis imperecta - thickened and disoloured dental enamal with RTA
Reduced penetrance or variable expression? Some patients only have the tooth phenotype...
Presents with polyuria and growth restriction
Treat with oral alkali replacement therapy, potassium chloride
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1952 WIPF1 Lilian Downie gene: WIPF1 was added
gene: WIPF1 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: WIPF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WIPF1 were set to PMID: 27742395, PMID: 30450104, PMID: 22231303
Phenotypes for gene: WIPF1 were set to Wiskott-Aldrich syndrome 2 MIM#614493
Review for gene: WIPF1 was set to GREEN
Added comment: Infant onset
recurrent infections, thrombycytopenia and eczema
Immunology testing to correlate
Treatment/cure with bone marrow transplant
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1952 WNK4 Lilian Downie gene: WNK4 was added
gene: WNK4 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: WNK4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WNK4 were set to PMID: 22073419, PMID: 31795491, PMID: 10869238,
Phenotypes for gene: WNK4 were set to Pseudohypoaldosteronism, type IIB MIM#614491
Review for gene: WNK4 was set to GREEN
Added comment: Hyperkalaemia and hypertension
Hypercalciuria
Hypocalcaemia
Decreased bone mineral density
Renal calcium stones
Treatable with thiazide diuretics
Variable age of onset from infancy to adulthood but highly effective treatment so leaning toward include.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1952 ZBTB24 Lilian Downie gene: ZBTB24 was added
gene: ZBTB24 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: ZBTB24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZBTB24 were set to PMID: 28128455, 21906047, 21596365, 23486536
Phenotypes for gene: ZBTB24 were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 2 MIM#614069
Review for gene: ZBTB24 was set to AMBER
Added comment: INfant onset
Agammaglobulinemia, facial anomalies, and mental retardation. Facial anomalies included broad, flat nasal bridge, hypertelorism, and epicanthal folds.
Treat immunoglobulin and bone marrow transplant however, this only treats the immune deficiency
Consider exclusion due to untreatable ID phenotype?
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1952 ZNF143 Lilian Downie gene: ZNF143 was added
gene: ZNF143 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: ZNF143 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF143 were set to PMID: 20301503, PMID: 27349184
Phenotypes for gene: ZNF143 were set to Combined methylmalonic acidemia and homocystinuria, cblX like 1
Review for gene: ZNF143 was set to RED
Added comment: Not in our mendeliome
Single case
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1951 FOLR1 Zornitza Stark gene: FOLR1 was added
gene: FOLR1 was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, metabolic tags were added to gene: FOLR1.
Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FOLR1 were set to 19732866; 30420205; 27743887
Phenotypes for gene: FOLR1 were set to Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068
Review for gene: FOLR1 was set to GREEN
Added comment: Folate is a neurotransmitter precursor. Onset is apparent in late infancy with severe developmental regression, movement disturbances, epilepsy, and leukodystrophy. Recognition and diagnosis of this disorder is critical because folinic acid therapy can reverse the clinical symptoms and improve brain abnormalities and function.

Treatment: folinic acid

Non-genetic confirmatory testing: cerebrospinal fluid 5-methyltetrahydrofolate level
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1949 FCHO1 Zornitza Stark gene: FCHO1 was added
gene: FCHO1 was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, immunological tags were added to gene: FCHO1.
Mode of inheritance for gene: FCHO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FCHO1 were set to 32098969; 30822429
Phenotypes for gene: FCHO1 were set to Immunodeficiency 76, MIM# 619164
Added comment: More than 10 affected individuals with bi-allelic variants in this gene reported. Functional data.

Immunodeficiency-76 (IMD76) is an autosomal recessive primary immunologic disorder characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Laboratory studies show T-cell lymphopenia and may show variable B-cell or immunoglobulin abnormalities. More variable features found in some patients include lymphoma and neurologic features.

Treatment: bone marrow transplant.

Non-genetic confirmatory testing: T and B Lymphocyte and Natural Killer Cell Profile, immunoglobulin levels
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1947 FAM111A Zornitza Stark Tag treatable tag was added to gene: FAM111A.
Tag skeletal tag was added to gene: FAM111A.
Genomic newborn screening: BabyScreen+ v0.1947 FAM111A Zornitza Stark gene: FAM111A was added
gene: FAM111A was added to Baby Screen+ newborn screening. Sources: Expert Review
Mode of inheritance for gene: FAM111A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FAM111A were set to Kenny-Caffey syndrome, type 2, MIM# 127000
Review for gene: FAM111A was set to GREEN
Added comment: Condition is characterised by impaired skeletal development with small and dense bones, short stature, ocular abnormalities, and primary hypoparathyroidism with hypocalcemia. At least 10 unrelated cases reported with de novo missense variants. Intellectual disability/developmental delay is a rare feature of the condition.

Treatment: magnesium, calcium and calcitriol or alfacalcidol

Non-genetic confirmatory testing: serum calcium, parathyroid hormone level, calcitonin level
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1945 ERCC6L2 Zornitza Stark gene: ERCC6L2 was added
gene: ERCC6L2 was added to Baby Screen+ newborn screening. Sources: Expert Review
treatable, haematological tags were added to gene: ERCC6L2.
Mode of inheritance for gene: ERCC6L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC6L2 were set to 24507776; 27185855
Phenotypes for gene: ERCC6L2 were set to Bone marrow failure syndrome 2, MIM# 615715
Review for gene: ERCC6L2 was set to AMBER
Added comment: Trilineage bone marrow failure, learning disabilities, and microcephaly. Three consanguineous families reported, but two with the same truncating variant, founder effect likely.

Treatment: bone marrow transplant.

Amber rating due to limited number of families reported.
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1944 DOCK2 Zornitza Stark Tag treatable tag was added to gene: DOCK2.
Tag immunological tag was added to gene: DOCK2.
Genomic newborn screening: BabyScreen+ v0.1943 DOCK2 Zornitza Stark gene: DOCK2 was added
gene: DOCK2 was added to Baby Screen+ newborn screening. Sources: Expert Review
Mode of inheritance for gene: DOCK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DOCK2 were set to 26083206; 29204803; 33928462; 30826364; 30838481; 11518968
Phenotypes for gene: DOCK2 were set to Immunodeficiency 40 MIM# 616433
Review for gene: DOCK2 was set to GREEN
Added comment: 13 unrelated individuals; two mouse models; 10 biallelic mutations found (6 led to premature termination of the protein & 4 missense mutations affecting conserved residues) All patients presented with combined immunodeficiency in infancy (defective IFN-mediated immunity), early onset of invasive bacterial and viral infections, functional defects in T/B/NK cells and elevated IgM (normal IgG/IgA).

Treatment: bone marrow transplant.

Non-genetic confirmatory testing: T and B Lymphocyte and Natural Killer Cell Profile
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1941 DNASE2 Zornitza Stark Tag treatable tag was added to gene: DNASE2.
Tag immunological tag was added to gene: DNASE2.
Genomic newborn screening: BabyScreen+ v0.1941 DNASE2 Zornitza Stark gene: DNASE2 was added
gene: DNASE2 was added to Baby Screen+ newborn screening. Sources: Expert Review
Mode of inheritance for gene: DNASE2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNASE2 were set to 29259162; 31775019
Phenotypes for gene: DNASE2 were set to Autoinflammatory-pancytopenia syndrome, MIM# 619858
Review for gene: DNASE2 was set to GREEN
Added comment: Inflammatory disorder characterized by splenomegaly, glomerulonephritis, liver fibrosis, circulating anti-DNA autoantibodies, and progressive arthritis. Three families and functional data.

Treatment: baricitinib

Non-genetic confirmatory testing: Interferon signature
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1940 DNAJC21 Zornitza Stark Tag treatable tag was added to gene: DNAJC21.
Tag haematological tag was added to gene: DNAJC21.
Genomic newborn screening: BabyScreen+ v0.1939 DNAJC21 Zornitza Stark gene: DNAJC21 was added
gene: DNAJC21 was added to Baby Screen+ newborn screening. Sources: Expert Review
Mode of inheritance for gene: DNAJC21 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC21 were set to 29700810; 28062395; 27346687
Phenotypes for gene: DNAJC21 were set to Bone marrow failure syndrome 3, MIM# 617052
Review for gene: DNAJC21 was set to GREEN
Added comment: Onset of pancytopenia in early childhood; variable nonspecific somatic abnormalities, including poor growth, microcephaly, and skin anomalies.

Treatment: oral pancreatic enzymes, fat-soluble vitamins, blood and/or platelet transfusions, granulocyte-colony stimulation factor, bone marrow transplant

Confirmatory non-genetic testing: no; FBE as pancytopenia evolves.
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1938 CYP2R1 Zornitza Stark Tag treatable tag was added to gene: CYP2R1.
Tag endocrine tag was added to gene: CYP2R1.
Genomic newborn screening: BabyScreen+ v0.1937 CYP2R1 Zornitza Stark gene: CYP2R1 was added
gene: CYP2R1 was added to Baby Screen+ newborn screening. Sources: Expert Review
Mode of inheritance for gene: CYP2R1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP2R1 were set to 15128933; 28548312
Phenotypes for gene: CYP2R1 were set to Rickets due to defect in vitamin D 25-hydroxylation deficiency MIM#600081
Review for gene: CYP2R1 was set to GREEN
Added comment: At least 6 unrelated families reported.

Onset is generally in infancy.

Good response to vitamin D (calcifediol (25_OH_D3).

Confirmatory non-genetic testing: serum calcium, parathyroid hormone, 25-hydroxy vitamin D levels
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1935 C17orf62 Zornitza Stark gene: C17orf62 was added
gene: C17orf62 was added to Baby Screen+ newborn screening. Sources: Expert Review
new gene name, treatable, immunological tags were added to gene: C17orf62.
Mode of inheritance for gene: C17orf62 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C17orf62 were set to 30361506; 30312704; 28351984
Phenotypes for gene: C17orf62 were set to Chronic granulomatous disease 5, autosomal recessive, MIM# 618935
Review for gene: C17orf62 was set to GREEN
Added comment: Seven Icelandic families reported with same homozygous variant, p.Tyr2Ter and an additional family from different ethnic background with different homozygous splice site variant. Functional data, including mouse model. Gene also known as EROS and CYBC1 (HGNC approved name)

Primary immunodeficiency characterized by onset of recurrent infections and severe colitis in the first decade of life. Patients often present with features of inflammatory bowel disease and may show granulomata on biopsy. Patients are particularly susceptible to catalase-positive organisms, including Burkholderia cepacia, Legionella, and Candida albicans. Some patients may develop autoinflammatory symptoms, including recurrent fever in the absence of infection, hemolytic anemia, and lymphopenia. Additional features may include short stature, viral infections, cutaneous abscesses, pulmonary infections, and lymphadenitis. Haematopoietic bone marrow transplant is curative.

Non-genetic confirmatory assay: dihydrorhodamine assay
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1933 CYB561 Zornitza Stark Tag treatable tag was added to gene: CYB561.
Tag endocrine tag was added to gene: CYB561.
Genomic newborn screening: BabyScreen+ v0.1933 CYB561 Zornitza Stark gene: CYB561 was added
gene: CYB561 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: CYB561 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYB561 were set to 29343526; 31822578
Phenotypes for gene: CYB561 were set to Orthostatic hypotension 2, MIM# 618182
Review for gene: CYB561 was set to GREEN
Added comment: Three families reported.

Severe orthostatic hypotension, recurrent hypoglycemia, and low norepinephrine levels. The disorder has onset in infancy or early childhood.

Treatment: L-threo-3,4-dihydroxyphenylserine (droxidopa)

Non-genetic confirmatory testing: plasma norepinephrine, epinephrine, dopamine
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1930 CR2 Zornitza Stark Tag treatable tag was added to gene: CR2.
Tag immunological tag was added to gene: CR2.
Genomic newborn screening: BabyScreen+ v0.1929 CORO1A Zornitza Stark gene: CORO1A was added
gene: CORO1A was added to gNBS. Sources: Expert list
Mode of inheritance for gene: CORO1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CORO1A were set to Immunodeficiency 8 MIM# 615401
Review for gene: CORO1A was set to GREEN
Added comment: 3 unrelated families and 1 unrelated individual reported with bi-allelic (deletion, missense, insertion) variants, resulting in premature stop codons and truncated protein/ alter a highly conserved residue in binding domain; one mouse model

All patients displayed T−B+NK+ SCID or CID presenting in early-onset recurrent infections and additional features that included EBV-associated lymphoproliferative disease and low immunoglobulin levels.

Congenital onset.

Treatment: bone marrow transplant

Non-genetic confirmatory testing: T and B Lymphocyte and Natural Killer Cell Profile
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1927 CDCA7 Zornitza Stark Tag treatable tag was added to gene: CDCA7.
Tag immunological tag was added to gene: CDCA7.
Genomic newborn screening: BabyScreen+ v0.1927 CDCA7 Zornitza Stark gene: CDCA7 was added
gene: CDCA7 was added to gNBS. Sources: Expert Review
Mode of inheritance for gene: CDCA7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDCA7 were set to 26216346
Phenotypes for gene: CDCA7 were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 3, MIM# 616910
Review for gene: CDCA7 was set to GREEN
Added comment: Congenital onset, severe disorder. At least 4 unrelated families reported.

Treatment: replacement immunoglobulins, bone marrow transplant

Non-genetic confirmatory testing: immunoglobulin levels, cytogenetic analysis for centromeric instability, DNA methylation studies
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1926 CD81 Zornitza Stark Tag treatable tag was added to gene: CD81.
Tag immunological tag was added to gene: CD81.
Genomic newborn screening: BabyScreen+ v0.1926 CD81 Zornitza Stark gene: CD81 was added
gene: CD81 was added to gNBS. Sources: Expert Review
Mode of inheritance for gene: CD81 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD81 were set to 20237408
Phenotypes for gene: CD81 were set to Immunodeficiency, common variable, 6, MIM# 613496
Review for gene: CD81 was set to RED
Added comment: CVID, which would be congenital, severe and treatable with replacement immunoglobulins.

However, only a single individual reported.
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1924 CD70 Zornitza Stark gene: CD70 was added
gene: CD70 was added to gNBS. Sources: Expert Review
Mode of inheritance for gene: CD70 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD70 were set to Lymphoproliferative syndrome 3, MIM# 618261
Review for gene: CD70 was set to GREEN
Added comment: Severe lymphoproliferation following EBV infection.

Treatment: bone marrow transplant.

Non-genetic confirmatory testing: immunoglobulin levels, T and B Lymphocyte and Natural Killer Cell Profile
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1922 CD55 Zornitza Stark Tag treatable tag was added to gene: CD55.
Tag immunological tag was added to gene: CD55.
Genomic newborn screening: BabyScreen+ v0.1922 CD55 Zornitza Stark gene: CD55 was added
gene: CD55 was added to gNBS. Sources: Expert Review
Mode of inheritance for gene: CD55 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD55 were set to 33398182
Phenotypes for gene: CD55 were set to Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, MIM# 226300
Review for gene: CD55 was set to GREEN
Added comment: Severe congenital disorder, high mortality.

Treatment: Eculizumab

Non-genetic confirmatory testing: albumin level, immunoglobulin level
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1920 CD40 Zornitza Stark gene: CD40 was added
gene: CD40 was added to gNBS. Sources: Expert list
Mode of inheritance for gene: CD40 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD40 were set to 29884852
Phenotypes for gene: CD40 were set to Immunodeficiency with hyper-IgM, type 3, MIM# 606843
Review for gene: CD40 was set to GREEN
Added comment: Severity can be variable but generally congenital onset, and predisposition to severe infections. Note CD40L already included.

Treatment: bone marrow transplantation.

Non-genetic confirmatory testing: immunoglobulin levels, flow cytometric analysis
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1918 CD3G Zornitza Stark Tag treatable tag was added to gene: CD3G.
Tag immunological tag was added to gene: CD3G.
Genomic newborn screening: BabyScreen+ v0.1918 CD3G Zornitza Stark gene: CD3G was added
gene: CD3G was added to gNBS. Sources: Expert list
Mode of inheritance for gene: CD3G was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD3G were set to 31921117
Phenotypes for gene: CD3G were set to Immunodeficiency 17; CD3 gamma deficient MIM# 615607
Added comment: 10 affected individuals from 5 unrelated families; homozygous and compound heterozygous variants (splicing, missense and small deletion variants) identified resulting in premature stop codons and truncated protein; multiple mouse models.

All individuals displayed immune deficiency and autoimmunity of variable severity. Some individuals presented at birth with failure to thrive due to lethal SCID features. The most common immunologic profile includes partial T lymphocytopenia and low CD3, with normal B cells, NK cells, and immunoglobulins.

Congenital onset.

Treatment: replacement immunoglobulin

Non-genetic confirmatory testing: immunoglobulin levels
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1916 CD27 Zornitza Stark Tag treatable tag was added to gene: CD27.
Tag immunological tag was added to gene: CD27.
Genomic newborn screening: BabyScreen+ v0.1916 CD27 Zornitza Stark gene: CD27 was added
gene: CD27 was added to gNBS. Sources: Expert list
Mode of inheritance for gene: CD27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD27 were set to 22197273; 22801960; 22365582; 25843314; 11062504
Phenotypes for gene: CD27 were set to CD27-deficiency MIM# 615122
Review for gene: CD27 was set to GREEN
Added comment: 17 affected individuals from 9 unrelated families; homozygous (missense) and compound heterozygous (missense/ nonsense) variants identified in CD27; one mouse model. Affected individuals present with varied phenotypes (even within the same families); most commonly with lymphadenopathy, fever, hepatosplenomegaly, EBV-related infections, and immunodeficiency associated with hypogammaglobulinaemia. However, some CD27-deficient individuals are asymptomatic or display borderline-low hypogammaglobulinaemia.

Treatment: replacement immunoglobulin treatment, rituximab, Bone marrow transplant.

Non-genetic confirmatory testing: immunoglobulin levels
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1914 CD247 Zornitza Stark Tag treatable tag was added to gene: CD247.
Tag immunological tag was added to gene: CD247.
Genomic newborn screening: BabyScreen+ v0.1914 CD247 Zornitza Stark gene: CD247 was added
gene: CD247 was added to gNBS. Sources: Expert Review
Mode of inheritance for gene: CD247 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD247 were set to 16672702; 17170122
Phenotypes for gene: CD247 were set to Immunodeficiency 25, MIM# 610163
Review for gene: CD247 was set to GREEN
Added comment: Two reports in the literature, note additional two reports in ClinVar; functional data.

Congenital onset. Absent T cells, resulting in severe immunodeficiency.

Treatment: bone marrow transplant.

Non-genetic confirmatory testing: T, B and NK cell counts
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1913 CD19 Zornitza Stark Tag treatable tag was added to gene: CD19.
Tag immunological tag was added to gene: CD19.
Genomic newborn screening: BabyScreen+ v0.1912 CD19 Zornitza Stark gene: CD19 was added
gene: CD19 was added to gNBS. Sources: Expert list
Mode of inheritance for gene: CD19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD19 were set to Immunodeficiency, common variable, 3, MIM# 613493
Review for gene: CD19 was set to GREEN
Added comment: More than 5 unrelated families reported. Clinical features include increased susceptibility to infection, hypogammaglobulinaemia, and normal numbers of mature B cells in blood, indicating a B-cell antibody-deficient immunodeficiency disorder.

Onset is congenital.

Treatment: IVIG

Non-genetic confirmatory testing: immunoglobulin levels
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1910 CAV1 Zornitza Stark Tag treatable tag was added to gene: CAV1.
Tag metabolic tag was added to gene: CAV1.
Genomic newborn screening: BabyScreen+ v0.1910 CAV1 Zornitza Stark gene: CAV1 was added
gene: CAV1 was added to gNBS. Sources: Expert list
Mode of inheritance for gene: CAV1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAV1 were set to 29704234
Phenotypes for gene: CAV1 were set to Lipodystrophy, congenital generalized, type 3, MIM# 612526
Review for gene: CAV1 was set to GREEN
Added comment: Established gene-disease association.

Bi-allelic disease is more severe. Onset is congenital.

Treatment: metreleptin

Non-genetic confirmatory testing: leptin levels
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1907 PRDX1 Zornitza Stark Tag for review tag was added to gene: PRDX1.
Genomic newborn screening: BabyScreen+ v0.1907 PNP Zornitza Stark Tag treatable tag was added to gene: PNP.
Tag immunological tag was added to gene: PNP.
Genomic newborn screening: BabyScreen+ v0.1898 MAT1A Zornitza Stark Mode of inheritance for gene: MAT1A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1895 LIAS Zornitza Stark Source Expert list was removed from LIAS.
Source Expert Review was added to LIAS.
Rating Changed from No List (delete) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1890 HIBCH Zornitza Stark Tag for review tag was added to gene: HIBCH.
Genomic newborn screening: BabyScreen+ v0.1889 HMGCS2 Zornitza Stark Tag for review tag was added to gene: HMGCS2.
Tag treatable tag was added to gene: HMGCS2.
Tag metabolic tag was added to gene: HMGCS2.
Genomic newborn screening: BabyScreen+ v0.1887 HIBCH Zornitza Stark Tag treatable tag was added to gene: HIBCH.
Tag metabolic tag was added to gene: HIBCH.
Genomic newborn screening: BabyScreen+ v0.1883 GLIS3 Zornitza Stark Tag treatable tag was added to gene: GLIS3.
Tag endocrine tag was added to gene: GLIS3.
Genomic newborn screening: BabyScreen+ v0.1883 PRDX1 Lilian Downie gene: PRDX1 was added
gene: PRDX1 was added to gNBS. Sources: Expert list
Mode of inheritance for gene: PRDX1 was set to Other
Publications for gene: PRDX1 were set to PMID: 20301503, PMID: 29396438, PMID: 34215320, PMID: 33982424
Phenotypes for gene: PRDX1 were set to Methylmalonic aciduria and homocystinuria, cblC type, digenic MIM#277400
Review for gene: PRDX1 was set to GREEN
Added comment: Digenic inheritance with mutation in other allele of MMACHC
On GUARDIAN and Rx genes list

Recently, three individuals who are double heterozygous for pathogenic variants in MMACHC and PRDX1 have been identified. PRDX1 is a neighboring gene on chromosome 1 transcribed from the reverse strand. Variants identified in PRDX1 located at the intron 5 splice acceptor site caused skipping of exon 6, transcription of antisense MMACHC, and hypermethylation of the MMACHC promoter/exon 1, resulting in no gene expression from that allele [Guéant et al 2018].

Treatable with cobalamin, carnitine & diet. NB MMACHC is green on our list, on newborn screening.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1883 PNP Lilian Downie gene: PNP was added
gene: PNP was added to gNBS. Sources: Expert list
Mode of inheritance for gene: PNP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNP were set to PMID: 35968787, PMID: 35063692, PMID: 30885031, PMID: 1931007, PMID: 28674683
Phenotypes for gene: PNP were set to Immunodeficiency due to purine nucleoside phosphorylase deficiency MIM#613179
Review for gene: PNP was set to GREEN
Added comment: Decreased T cell function - SCID immunodeficiency
variable neurological phenotype
childhood onset
Treat bone marrow transplant
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1883 GATM Zornitza Stark Tag treatable tag was added to gene: GATM.
Tag metabolic tag was added to gene: GATM.
Genomic newborn screening: BabyScreen+ v0.1879 FOXE1 Zornitza Stark Tag treatable tag was added to gene: FOXE1.
Tag endocrine tag was added to gene: FOXE1.
Tag deafness tag was added to gene: FOXE1.
Genomic newborn screening: BabyScreen+ v0.1876 ALDH4A1 Zornitza Stark Tag treatable tag was added to gene: ALDH4A1.
Tag metabolic tag was added to gene: ALDH4A1.
Genomic newborn screening: BabyScreen+ v0.1872 LIAS Lilian Downie gene: LIAS was added
gene: LIAS was added to gNBS. Sources: Expert list
Mode of inheritance for gene: LIAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIAS were set to PMID: 24334290, 24777537,
Phenotypes for gene: LIAS were set to Hyperglycinemia, lactic acidosis, and seizures MIM#614462
Review for gene: LIAS was set to RED
Added comment: pyruvate dehydrogenase lipoic acid synthetase deficiency (PDHLD)
increased serum glycine and lactate in the first days of life, hypotonia, seizures, early death
No treatment
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1872 HMGCS2 Lilian Downie gene: HMGCS2 was added
gene: HMGCS2 was added to gNBS. Sources: Expert list
Mode of inheritance for gene: HMGCS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HMGCS2 were set to PMID: 32259399, 32470406
Phenotypes for gene: HMGCS2 were set to HMG-CoA synthase-2 deficiency MIM#605911
Penetrance for gene: HMGCS2 were set to Incomplete
Review for gene: HMGCS2 was set to AMBER
Added comment: Metabolic disorder; patients present with hypoketotic hypoglycemia, encephalopathy, and hepatomegaly, usually precipitated by an intercurrent infection or prolonged fasting. Recover completely between illnesses, do develop fatty liver.
?incomplete penetrance or variable age of onset
On GUARDIAN and Rx Genes
Rx IV glucose during acute episodes, avoid prolonged fasting
Metabolic parameters are normal in between episodes, so no ability to do a confirmatory biochemical test.
Pros: readily treatable if child has an episode Cons: unncessary worry as child may never have episode
Super rare ?30 cases
Discuss with JC?
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1872 GATM Lilian Downie gene: GATM was added
gene: GATM was added to gNBS. Sources: Expert list
Mode of inheritance for gene: GATM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GATM were set to PMID: 20301745, 34972654
Phenotypes for gene: GATM were set to Cerebral creatine deficiency syndrome 3 MIM#612718
Review for gene: GATM was set to GREEN
Added comment: GUARDIAN gene list (not on babyseq or rxgenes)
ID and myopathy, early onset
Rx creatine
Seems like a good fit? I'm not clear from the literature how effective the treatment is. check with JC
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1870 TANGO2 Zornitza Stark Tag treatable tag was added to gene: TANGO2.
Tag metabolic tag was added to gene: TANGO2.
Genomic newborn screening: BabyScreen+ v0.1867 NKX2-5 Zornitza Stark Tag cardiac tag was added to gene: NKX2-5.
Genomic newborn screening: BabyScreen+ v0.1866 ACTA2 Zornitza Stark Mode of inheritance for gene: ACTA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1865 TANGO2 Ari Horton gene: TANGO2 was added
gene: TANGO2 was added to gNBS. Sources: Expert Review
Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TANGO2 were set to Cardiomyopathy; Metabolic Crises; Arrhythmia; Neurodevelopmental
Penetrance for gene: TANGO2 were set to Complete
Review for gene: TANGO2 was set to GREEN
Added comment: Folate may assist with TANGO2
DOI: https://doi.org/10.21203/rs.3.rs-1778084/v1

While chronic symptoms are predominantly neurodevelopmental, metabolic stressors such as fasting, dehydration, illness, and excessive heat can trigger episodic metabolic crises characterized by encephalopathy, ataxia, muscle weakness, rhabdomyolysis, and hypoglycemia. During these events, patients can develop acute life-threatening cardiac arrhythmias. Arrhythmias typically initiate with isolated premature ventricular contractions (PVC) followed by recalcitrant ventricular tachycardia. Because these lethal arrhythmias usually do not respond to standard antiarrhythmic therapies, cardiac arrhythmias are the leading cause of death in TDD

Fasting and feeding recommendations to reduce crises and improve cardiac status and neurodev outcomes, reduce risk of cardiac arrhythmias and SCDY

Natural history study (ClinicalTrials.gov Identifier: NCT05374616) strongly suggests that subjects on a multivitamin or a Bcomplex vitamin supplement have a greatly reduced risk for metabolic crises and cardiac arrhythmias

Specific diet and fasting plans are recommended for all patients from the neonatal period
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1862 MCFD2 Zornitza Stark Tag for review was removed from gene: MCFD2.
Tag treatable tag was added to gene: MCFD2.
Genomic newborn screening: BabyScreen+ v0.1862 HBB Zornitza Stark Tag for review was removed from gene: HBB.
Genomic newborn screening: BabyScreen+ v0.1859 TMEM43 Zornitza Stark Tag for review was removed from gene: TMEM43.
Genomic newborn screening: BabyScreen+ v0.1859 LAMP2 Zornitza Stark Tag for review was removed from gene: LAMP2.
Genomic newborn screening: BabyScreen+ v0.1859 LOX Zornitza Stark Tag for review was removed from gene: LOX.
Genomic newborn screening: BabyScreen+ v0.1858 TBX1 Zornitza Stark Tag for review was removed from gene: TBX1.
Genomic newborn screening: BabyScreen+ v0.1857 PRKG1 Zornitza Stark Tag for review was removed from gene: PRKG1.
Genomic newborn screening: BabyScreen+ v0.1856 MYH11 Zornitza Stark Tag for review was removed from gene: MYH11.
Genomic newborn screening: BabyScreen+ v0.1855 KCNQ1 Zornitza Stark Tag for review was removed from gene: KCNQ1.
Genomic newborn screening: BabyScreen+ v0.1854 DSG2 Zornitza Stark Tag for review was removed from gene: DSG2.
Genomic newborn screening: BabyScreen+ v0.1854 COL3A1 Zornitza Stark Tag for review was removed from gene: COL3A1.
Genomic newborn screening: BabyScreen+ v0.1854 JUP Zornitza Stark Mode of inheritance for gene: JUP was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1852 JUP Zornitza Stark Tag for review was removed from gene: JUP.
Genomic newborn screening: BabyScreen+ v0.1852 DSP Zornitza Stark Mode of inheritance for gene: DSP was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1850 DSP Zornitza Stark Tag for review was removed from gene: DSP.
Genomic newborn screening: BabyScreen+ v0.1849 CALM3 Zornitza Stark Tag for review was removed from gene: CALM3.
Genomic newborn screening: BabyScreen+ v0.1849 CALM2 Zornitza Stark Tag for review was removed from gene: CALM2.
Genomic newborn screening: BabyScreen+ v0.1849 LAMP2 Zornitza Stark Tag cardiac tag was added to gene: LAMP2.
Genomic newborn screening: BabyScreen+ v0.1849 TRPM4 Zornitza Stark Tag cardiac tag was added to gene: TRPM4.
Genomic newborn screening: BabyScreen+ v0.1848 SCN5A Zornitza Stark Tag for review was removed from gene: SCN5A.
Genomic newborn screening: BabyScreen+ v0.1847 KCNH2 Zornitza Stark Tag for review was removed from gene: KCNH2.
Genomic newborn screening: BabyScreen+ v0.1847 DSC2 Zornitza Stark Tag for review was removed from gene: DSC2.
Genomic newborn screening: BabyScreen+ v0.1847 CASQ2 Zornitza Stark Mode of inheritance for gene: CASQ2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1845 CASQ2 Zornitza Stark Tag for review was removed from gene: CASQ2.
Genomic newborn screening: BabyScreen+ v0.1844 ACTA2 Zornitza Stark Tag for review was removed from gene: ACTA2.
Genomic newborn screening: BabyScreen+ v0.1844 TRDN Zornitza Stark Tag for review was removed from gene: TRDN.
Genomic newborn screening: BabyScreen+ v0.1844 TECRL Zornitza Stark Tag for review was removed from gene: TECRL.
Genomic newborn screening: BabyScreen+ v0.1844 RYR2 Zornitza Stark Tag for review was removed from gene: RYR2.
Genomic newborn screening: BabyScreen+ v0.1844 CALM1 Zornitza Stark Tag for review was removed from gene: CALM1.
Genomic newborn screening: BabyScreen+ v0.1843 CAD Zornitza Stark gene: CAD was added
gene: CAD was added to gNBS. Sources: Expert list
treatable, metabolic tags were added to gene: CAD.
Mode of inheritance for gene: CAD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAD were set to 28007989
Phenotypes for gene: CAD were set to Developmental and epileptic encephalopathy 50, MIM# 616457
Review for gene: CAD was set to GREEN
Added comment: Developmental and epileptic encephalopathy-50 (DEE50) is an autosomal recessive progressive neurodegenerative neurometabolic disorder characterized by delayed psychomotor development, early-onset refractory seizures, severe developmental regression, and normocytic anemia. Onset is within the first months or years of life.

Affected children can have a favourable response to treatment with uridine, PMID 28007989
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1841 CA12 Zornitza Stark gene: CA12 was added
gene: CA12 was added to gNBS. Sources: Expert Review
treatable, metabolic tags were added to gene: CA12.
Mode of inheritance for gene: CA12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CA12 were set to Hyperchlorhidrosis, isolated MIM#143860
Review for gene: CA12 was set to GREEN
Added comment: Glu143Lys found in 4 Israeli Bedouin families. 2 other unrelated families reported with 1 missense (LoF demonstrated), 1 splice (aberrant splicing proven) and 1 fs (protein truncating, not NMD).

Excessive salt wasting in sweat can result in severe infantile hyponatraemic dehydration and hyperkalaemia.

Treatment: sodium chloride supplementation
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1839 AICDA Zornitza Stark gene: AICDA was added
gene: AICDA was added to gNBS. Sources: Expert Review
treatable, immunological tags were added to gene: AICDA.
Mode of inheritance for gene: AICDA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AICDA were set to Immunodeficiency with hyper-IgM, type 2, MIM# 605258
Review for gene: AICDA was set to GREEN
Added comment: Hyper-IgM syndrome type 2 (HIGM2) is a rare immunodeficiency characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections. Well established gene-disease association.

Severe, congenital disorder.

Treatment: immunoglobulin replacement therapy.

Confirmatory testing: antibody levels.
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1837 AGPAT2 Zornitza Stark gene: AGPAT2 was added
gene: AGPAT2 was added to gNBS. Sources: Expert list
for review, treatable, endocrine tags were added to gene: AGPAT2.
Mode of inheritance for gene: AGPAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGPAT2 were set to 29704234
Phenotypes for gene: AGPAT2 were set to Lipodystrophy, congenital generalized, type 1, MIM# 608594
Review for gene: AGPAT2 was set to AMBER
Added comment: Established gene-disease association.

Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare autosomal recessive disease characterized by a near absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biologic features include acanthosis nigricans, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia.

Leptin replacement therapy (metreleptin) has been found to improve metabolic parameters in many patients with lipodystrophy. Metreleptin is approved in the United States as replacement therapy to treat the complications of leptin deficiency in patients with congenital or acquired generalized lipodystrophy and has been submitted for approval elsewhere.

For review regarding availability and use of treatment locally.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1835 APC Zornitza Stark Tag cancer tag was added to gene: APC.
Genomic newborn screening: BabyScreen+ v0.1834 WT1 Zornitza Stark Tag for review was removed from gene: WT1.
Genomic newborn screening: BabyScreen+ v0.1834 WT1 Zornitza Stark changed review comment from: Rated as 'moderate actionability' in paediatric patients by ClinGen.

Individuals with germline WT1 pathogenic variants are more likely to have bilateral or multicentric tumors and to develop tumors at an early age. The median age of diagnosis is between 3 and 4 years and both kidneys are affected in ~5% of children. Significantly more females than males have the bilateral disease. Adult forms are very rare. In the majority of cases, the prognosis is favorable with a survival rate of over 90%.

The goal of surveillance in individuals with a genetic predisposition to WT is to

detect tumors while they are low-stage and require less treatment compared to advanced-stage tumors. Surveillance is not a one-time event and should continue through the period of risk. WTs can double in size every week, leading to the recommendation that evaluation with abdominal ultrasound be performed every 3-4 months, with and no less frequently than 3 times a year, until age five years. Even at this frequency, occasional tumors may present clinically between scans and families should be made aware of this. However, there is no evidence to suggest that such tumors have a worse outcome.

No evidence was found on the effectiveness of surveillance in children with WT due to WT1 pathogenic variants. In addition, there is no clear evidence that surveillance results in a significant decrease in mortality or tumor stage generally. However, tumors detected by surveillance would be anticipated to be on average smaller than tumors that present clinically. There have been three small retrospective evaluations of WT surveillance published, only one of which reported a significant difference in stage distribution between screened and unscreened individuals. This report was a case series of children with Beckwith-Wiedemann syndrome and idiopathic hemihypertropy, where 0/12 screened children with WT had late-stage disease and 25/59 (42%) of unscreened children had late-stage WT (p<0.003). In addition, in Germany, where abdominal ultrasound in children is common and 10% of WT are diagnosed prior to symptoms, there are some data to suggest that asymptomatic tumors are of lower stage than those present due to clinical symptoms.

Penetrance is unclear. For review.; to: Rated as 'moderate actionability' in paediatric patients by ClinGen.

Individuals with germline WT1 pathogenic variants are more likely to have bilateral or multicentric tumors and to develop tumors at an early age. The median age of diagnosis is between 3 and 4 years and both kidneys are affected in ~5% of children. Significantly more females than males have the bilateral disease. Adult forms are very rare. In the majority of cases, the prognosis is favorable with a survival rate of over 90%.

The goal of surveillance in individuals with a genetic predisposition to WT is to

detect tumors while they are low-stage and require less treatment compared to advanced-stage tumors. Surveillance is not a one-time event and should continue through the period of risk. WTs can double in size every week, leading to the recommendation that evaluation with abdominal ultrasound be performed every 3-4 months, with and no less frequently than 3 times a year, until age five years. Even at this frequency, occasional tumors may present clinically between scans and families should be made aware of this. However, there is no evidence to suggest that such tumors have a worse outcome.

No evidence was found on the effectiveness of surveillance in children with WT due to WT1 pathogenic variants. In addition, there is no clear evidence that surveillance results in a significant decrease in mortality or tumor stage generally. However, tumors detected by surveillance would be anticipated to be on average smaller than tumors that present clinically. There have been three small retrospective evaluations of WT surveillance published, only one of which reported a significant difference in stage distribution between screened and unscreened individuals. This report was a case series of children with Beckwith-Wiedemann syndrome and idiopathic hemihypertropy, where 0/12 screened children with WT had late-stage disease and 25/59 (42%) of unscreened children had late-stage WT (p<0.003). In addition, in Germany, where abdominal ultrasound in children is common and 10% of WT are diagnosed prior to symptoms, there are some data to suggest that asymptomatic tumors are of lower stage than those present due to clinical symptoms.
Genomic newborn screening: BabyScreen+ v0.1834 GLA Zornitza Stark Tag for review was removed from gene: GLA.
Genomic newborn screening: BabyScreen+ v0.1834 GLA Zornitza Stark changed review comment from: Assessed as 'moderate actionability' in paediatric patients by ClinGen.

In classic FD, the first symptoms, including chronic neuropathic pain and episodic severe pain crises, emerge during childhood (typically age 3-10 years). Heterozygous females typically have a later median age of onset than males (9-13 years versus 13-23 years). Rarely, females may be relatively asymptomatic and have a normal life span or may have symptoms as severe as males with the classic phenotype.

Cardiac and/or cerebrovascular disease is present in most males by middle age while ESRD usually develops during the third to fifth decade. Renal and cardiac failure represent major sources of morbidity, and account for the reduced lifespan among affected males (50-58 years) and females (70-75 years) compared to the normal population.

A systematic review of RCTs of ERT reported on nine studies of 351 FD patients; however, many of these studies reported only on the effect of ERT on levels of enzyme substrate. Data from 2 trials (n=39 males) found no statistically significant differences in plasma enzyme substrate and one trial (n=24 males) found no statistical differences in renal function between individuals treated with agalsidase alfa and placebo (up to 6-month follow-up). Similar results were seen for agalsidase beta. One trial of 26 male patients found a statistically significant difference in pain, favoring agalsidase alfa compared to placebo at 5-6 months after treatment. No trial reported on the effect of agalsidase alfa on mortality or cardiac/cerebrovascular disease. One trial of agalsidase beta (n=82 males and females) found no difference in mortality, renal function, or symptoms or complications of cardiac or cerebrovascular disease over 18 months. The long-term influence of ERT on risk of morbidity and mortality related to FD remains to be established.

Migalastat, an oral chaperone drug, is recommended as an option for treatment for some patients with FD who are over 16 years with an amenable genetic variant who would usually be offered ERT. For non-amenable genotypes, migalastat may result in a net loss of alpha-Gal A activity, potentially worsening the disease condition.

A systematic review evaluated 2 phase III RCTs that both included males and females. One RCT randomized patients to switch from ERT to migalastat (n = 36) or continue with ERT (n = 24) during an 18-month period with a 12-month extension in which all patients received migalastat. During the treatment period, the percentage of patients who had a renal, cardiac, or cerebrovascular event or died was 29% of patients on migalastat compared to 44% of patients on ERT. However, this difference was not statistically significant. A second RCT compared migalastat (n=34) with placebo (n=33) over a 6-month period, with an 18-month extension study. The primary outcome was change from baseline in interstitial capillary inclusions of the enzyme substrate globotriaosylceramide (GL-3), which was not significantly different between groups. Results from both trials indicate that migalastat does not have a significant beneficial effect on pain, health-related quality of life outcomes, or glomerular filtration rate (results were uncertain due to large confidence intervals, small sample sizes, and/or short follow-up time). Migalastat did not influence left ventricular ejection fraction but did improve left ventricular mass over 18 months.

There are a number of recommendations for surveillance and agents to avoid (amiodarone). There is no consensus as to when ERT should be started.; to: Assessed as 'moderate actionability' in paediatric patients by ClinGen.

In classic FD, the first symptoms, including chronic neuropathic pain and episodic severe pain crises, emerge during childhood (typically age 3-10 years). Heterozygous females typically have a later median age of onset than males (9-13 years versus 13-23 years). Rarely, females may be relatively asymptomatic and have a normal life span or may have symptoms as severe as males with the classic phenotype.

Cardiac and/or cerebrovascular disease is present in most males by middle age while ESRD usually develops during the third to fifth decade. Renal and cardiac failure represent major sources of morbidity, and account for the reduced lifespan among affected males (50-58 years) and females (70-75 years) compared to the normal population.

A systematic review of RCTs of ERT reported on nine studies of 351 FD patients; however, many of these studies reported only on the effect of ERT on levels of enzyme substrate. Data from 2 trials (n=39 males) found no statistically significant differences in plasma enzyme substrate and one trial (n=24 males) found no statistical differences in renal function between individuals treated with agalsidase alfa and placebo (up to 6-month follow-up). Similar results were seen for agalsidase beta. One trial of 26 male patients found a statistically significant difference in pain, favoring agalsidase alfa compared to placebo at 5-6 months after treatment. No trial reported on the effect of agalsidase alfa on mortality or cardiac/cerebrovascular disease. One trial of agalsidase beta (n=82 males and females) found no difference in mortality, renal function, or symptoms or complications of cardiac or cerebrovascular disease over 18 months. The long-term influence of ERT on risk of morbidity and mortality related to FD remains to be established.

Migalastat, an oral chaperone drug, is recommended as an option for treatment for some patients with FD who are over 16 years with an amenable genetic variant who would usually be offered ERT. For non-amenable genotypes, migalastat may result in a net loss of alpha-Gal A activity, potentially worsening the disease condition.

A systematic review evaluated 2 phase III RCTs that both included males and females. One RCT randomized patients to switch from ERT to migalastat (n = 36) or continue with ERT (n = 24) during an 18-month period with a 12-month extension in which all patients received migalastat. During the treatment period, the percentage of patients who had a renal, cardiac, or cerebrovascular event or died was 29% of patients on migalastat compared to 44% of patients on ERT. However, this difference was not statistically significant. A second RCT compared migalastat (n=34) with placebo (n=33) over a 6-month period, with an 18-month extension study. The primary outcome was change from baseline in interstitial capillary inclusions of the enzyme substrate globotriaosylceramide (GL-3), which was not significantly different between groups. Results from both trials indicate that migalastat does not have a significant beneficial effect on pain, health-related quality of life outcomes, or glomerular filtration rate (results were uncertain due to large confidence intervals, small sample sizes, and/or short follow-up time). Migalastat did not influence left ventricular ejection fraction but did improve left ventricular mass over 18 months.

There are a number of recommendations for surveillance and agents to avoid (amiodarone). There is no consensus as to when ERT should be started. Note ERT is licensed in Australia from age 7 years.

However, carbamazepine relieves neuropathic pain, which has onset in early childhood. Overall, include.
Genomic newborn screening: BabyScreen+ v0.1833 SMAD2 Zornitza Stark Tag cardiac tag was added to gene: SMAD2.
Tag treatable tag was added to gene: SMAD2.
Genomic newborn screening: BabyScreen+ v0.1833 SMAD2 Zornitza Stark gene: SMAD2 was added
gene: SMAD2 was added to gNBS. Sources: Expert Review
Mode of inheritance for gene: SMAD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD2 were set to Loeys-Dietz syndrome 6, MIM# 619656
Review for gene: SMAD2 was set to GREEN
Added comment: 9 individuals from 5 unrelated families reported with LDS phenotype. Gene-disease association rated 'moderate' by ClinGen but this gene is included in our diagnostic testing.

LDS included in gNBS panel as in general medical actionability for the LDS group of disorders is considered established.

Can manifest in early childhood.

Treatment: different interventions, including beta-blockers, surgical and monitoring

Non-genetic confirmatory test: characteristic clinical findings
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1832 SMAD3 Zornitza Stark Tag for review was removed from gene: SMAD3.
Tag treatable tag was added to gene: SMAD3.
Genomic newborn screening: BabyScreen+ v0.1832 TGFB3 Zornitza Stark Tag for review was removed from gene: TGFB3.
Genomic newborn screening: BabyScreen+ v0.1832 TGFB2 Zornitza Stark Tag for review was removed from gene: TGFB2.
Genomic newborn screening: BabyScreen+ v0.1831 PMS2 Zornitza Stark Tag for review was removed from gene: PMS2.
Genomic newborn screening: BabyScreen+ v0.1830 MSH6 Zornitza Stark Tag for review was removed from gene: MSH6.
Genomic newborn screening: BabyScreen+ v0.1829 MSH2 Zornitza Stark Tag for review was removed from gene: MSH2.
Genomic newborn screening: BabyScreen+ v0.1826 PTCH1 Zornitza Stark Tag for review was removed from gene: PTCH1.
Genomic newborn screening: BabyScreen+ v0.1825 PMM2 Zornitza Stark changed review comment from: Well established gene-disease association.

Two clinical presentations - solely neurologic form and a neurologic-multivisceral form
Mortality approximately 20% in first 2 years

Treatment: epalrestat

PMID 31636082: Epalrestat increased PMM2 enzymatic activity in four PMM2-CDG patient fibroblast lines with genotypes R141H/F119L, R141H/E139K, R141H/N216I and R141H/F183S. PMM2 enzyme activity gains ranged from 30% to 400% over baseline, depending on genotype. Pharmacological inhibition of aldose reductase by epalrestat may shunt glucose from the polyol pathway to glucose-1,6-bisphosphate, which is an endogenous stabilizer and coactivator of PMM2 homodimerization. Epalrestat is a safe, oral and brain penetrant drug that was approved 27 years ago in Japan to treat diabetic neuropathy in geriatric populations.

For review: uncertain if in use for CDG; to: Well established gene-disease association.

Two clinical presentations - solely neurologic form and a neurologic-multivisceral form
Mortality approximately 20% in first 2 years

Treatment: epalrestat

PMID 31636082: Epalrestat increased PMM2 enzymatic activity in four PMM2-CDG patient fibroblast lines with genotypes R141H/F119L, R141H/E139K, R141H/N216I and R141H/F183S. PMM2 enzyme activity gains ranged from 30% to 400% over baseline, depending on genotype. Pharmacological inhibition of aldose reductase by epalrestat may shunt glucose from the polyol pathway to glucose-1,6-bisphosphate, which is an endogenous stabilizer and coactivator of PMM2 homodimerization. Epalrestat is a safe, oral and brain penetrant drug that was approved 27 years ago in Japan to treat diabetic neuropathy in geriatric populations.

Treatment not well established in patients.
Genomic newborn screening: BabyScreen+ v0.1825 PMM2 Zornitza Stark Tag for review was removed from gene: PMM2.
Tag metabolic was removed from gene: PMM2.
Genomic newborn screening: BabyScreen+ v0.1824 PIK3CA Zornitza Stark Tag for review was removed from gene: PIK3CA.
Genomic newborn screening: BabyScreen+ v0.1824 MEN1 Zornitza Stark Tag for review was removed from gene: MEN1.
Genomic newborn screening: BabyScreen+ v0.1823 GLDC Zornitza Stark Tag for review was removed from gene: GLDC.
Tag treatable tag was added to gene: GLDC.
Tag metabolic tag was added to gene: GLDC.
Genomic newborn screening: BabyScreen+ v0.1822 FBN1 Zornitza Stark Tag for review was removed from gene: FBN1.
Tag cardiac tag was added to gene: FBN1.
Tag treatable tag was added to gene: FBN1.
Genomic newborn screening: BabyScreen+ v0.1821 DICER1 Zornitza Stark Tag for review was removed from gene: DICER1.
Genomic newborn screening: BabyScreen+ v0.1821 TP53 Zornitza Stark Tag for review was removed from gene: TP53.
Genomic newborn screening: BabyScreen+ v0.1821 SLC5A6 Zornitza Stark Tag for review was removed from gene: SLC5A6.
Tag treatable tag was added to gene: SLC5A6.
Tag metabolic tag was added to gene: SLC5A6.
Genomic newborn screening: BabyScreen+ v0.1821 RET Zornitza Stark Tag for review was removed from gene: RET.
Genomic newborn screening: BabyScreen+ v0.1821 RB1 Zornitza Stark Tag for review was removed from gene: RB1.
Genomic newborn screening: BabyScreen+ v0.1821 PRKAR1A Zornitza Stark Tag for review was removed from gene: PRKAR1A.
Genomic newborn screening: BabyScreen+ v0.1820 MCEE Zornitza Stark Tag for review was removed from gene: MCEE.
Genomic newborn screening: BabyScreen+ v0.1819 ECHS1 Zornitza Stark gene: ECHS1 was added
gene: ECHS1 was added to gNBS. Sources: Expert list
treatable, metabolic tags were added to gene: ECHS1.
Mode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ECHS1 were set to 32642440
Phenotypes for gene: ECHS1 were set to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency MIM# 616277
Review for gene: ECHS1 was set to GREEN
Added comment: Well established gene-disease association.

Usually presents in infancy.

Treatable-ID – level 4 evidence: valine restriction improves psychomotor/cognitive development/IQ; improves neurological manifestations (incl. neuro-imaging); improves systemic manifestations (PMID: 32642440)
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1817 DHFR Zornitza Stark gene: DHFR was added
gene: DHFR was added to gNBS. Sources: Expert Review
treatable, metabolic tags were added to gene: DHFR.
Mode of inheritance for gene: DHFR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHFR were set to Megaloblastic anaemia due to dihydrofolate reductase deficiency, MIM# 613839
Review for gene: DHFR was set to GREEN
Added comment: Established gene-disease association.

Congenital onset.

Treatment: folinic acid.

Non-genetic confirmatory testing: complete blood count with MCV and CSF 5-methyltetrahydrofolate level.
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1815 DNAJC12 Zornitza Stark gene: DNAJC12 was added
gene: DNAJC12 was added to gNBS. Sources: Expert Review
treatable, metabolic tags were added to gene: DNAJC12.
Mode of inheritance for gene: DNAJC12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAJC12 were set to Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384
Review for gene: DNAJC12 was set to GREEN
Added comment: Established gene-disease association.

Manifests as mild hyperphenylalaninaemia that would be detected on NBS – untreated results in axial hypotonia, dystonia, nystagmus, global developmental delay,
and intellectual disability.

From Treatable-ID, level 4 evidence that BH4, L-dopa + carbidopa +/-, 5-
hydroxytryptophan improves psychomotor/cognitive development/IQ; prevents, halts, or slows clinical deterioration and improves neurological manifestations.
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1813 GALM Zornitza Stark gene: GALM was added
gene: GALM was added to gNBS. Sources: Expert Review
treatable, metabolic tags were added to gene: GALM.
Mode of inheritance for gene: GALM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALM were set to Galactosemia IV MIM#618881
Review for gene: GALM was set to GREEN
Added comment: Established gene-disease association.

Congenital onset.

Treatment: galactose/lactose-restricted diet.

Non-genetic confirmatory testing: galactose level.
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1810 GCH1 Zornitza Stark Mode of inheritance for gene: GCH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1808 GCH1 Zornitza Stark Tag treatable tag was added to gene: GCH1.
Tag metabolic tag was added to gene: GCH1.
Genomic newborn screening: BabyScreen+ v0.1806 PMS2 Zornitza Stark Mode of inheritance for gene: PMS2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1804 PMS2 Zornitza Stark Tag for review tag was added to gene: PMS2.
Tag cancer tag was added to gene: PMS2.
Tag treatable tag was added to gene: PMS2.
Genomic newborn screening: BabyScreen+ v0.1803 MSH6 Zornitza Stark Mode of inheritance for gene: MSH6 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1801 MSH6 Zornitza Stark Tag for review tag was added to gene: MSH6.
Tag cancer tag was added to gene: MSH6.
Tag treatable tag was added to gene: MSH6.
Genomic newborn screening: BabyScreen+ v0.1801 MLH1 Zornitza Stark changed review comment from: Note mono-allelic variants are associated with adult-onset cancer risk.

MMRCS rated as 'strong actionability' in paediatric patients by ClinGen.

The hallmark of MMRCS is early onset cancer, most often in childhood or young adulthood. The median age of onset of the first tumor is 7.5 years, with a wide range observed (0.4-39 years). A large portion (up to 40%) of patients develop metachronous second malignancies. The median survival after diagnosis of the primary tumor is less than 30 months. Prognosis depends on the possibility of complete resection, making early detection paramount. It is unclear what tumor spectrum will emerge among adults with MMRCS. Brain tumors are frequent and often diagnosed in the first decade of life. The rate of progression appears to be rapid in the brain tumors. The median age at diagnosis of brain tumors is 9 years (range, 2-40 years). Brain tumors are by far the most common cause of death. Colonic adenomatous oligopolyposis typically is diagnosed between 5 and 10 years of age. The progression of adenomas to malignancy in MMRCS is the most rapid of any inherited colorectal cancer syndrome. Among MMRCS patients presenting with colorectal cancer (CRC), the median age at diagnosis was 16 years (range, 8-48 years) with more than half of patients classified as pediatric-onset CRC. The age of onset of small-bowel adenomas is later; they typically develop in the second decade of life. The median age at diagnosis of small-bowel cancer was 28 years, with a range of 11-42 years. The lifetime risk of gastrointestinal cancer among MMRCS patients is the highest reported of all gastrointestinal cancer predisposition syndromes as a function of age. The median age at diagnosis of hematologic malignancy is 6.6 years. Endometrial cancer has been diagnosed between 19 and 44 years. The age at diagnosis of urinary tract tumors has ranged from 10 to 22 years.

The management of MMRCS is based on the current estimates of neoplasia risk and the early age of onset for the cancers, which have led to tentative guidelines for the management of these patients. The age at which to begin surveillance varies by guideline and is represented below as age ranges. In patients with MMRCS, the following surveillance is suggested:

•Screening for CRC by colonoscopy is recommended annually beginning at age 6 to 8 years. Once polyps are identified, colonoscopy every 6 months is recommended.
•Annual surveillance for small-bowel cancer by upper endoscopy and video capsule endoscopy is suggested beginning at 8 to 10 years of age. Monitoring of hemoglobin levels every 6 months also is suggested, beginning at 8 years of age.
•Surveillance for brain tumors by brain MRI every 6 to 12 months is suggested starting at the time of diagnosis even in the first year of life to age 2 years.
•Currently, no proven surveillance modalities for leukemia or lymphoma have been identified. Complete blood count to screen for leukemia is suggested every 6 months beginning at 1 year of age. Clinical examinations and abdominal ultrasounds to screen for lymphoma every 6 months may be considered by the treating physician.
•For individuals with a uterus, surveillance for endometrial cancer is suggested by transvaginal ultrasound, pelvic examination, and endometrial sampling annually starting at age 20 years.
•Surveillance for cancer of the urinary tract is suggested, with annual urinalysis starting at age 10 to 20 years.
•To screen for other types of tumors, whole-body MRI could be considered once a year starting at 6 years of age or when anesthesia is not needed. This method should not replace the need for ultrasound and brain MRI.

Estimated penetrance in MMRCS:

•50% develop small-bowel adenomas
•>90% develop colorectal adenomas
•59 to 70% develop colorectal cancer
•58 to 70% develop high-grade brain tumours
•20-40% develop lymphoma
•10-40% develop leukemia
•10 to 18% develop small-bowel cancer
•<10% develop endometrial cancer
•<10% develop urinary tract cancer

•<10% develop cancer of other sites; to: Note mono-allelic variants are associated with adult-onset cancer risk.

MMRCS rated as 'strong actionability' in paediatric patients by ClinGen.

The hallmark of MMRCS is early onset cancer, most often in childhood or young adulthood. The median age of onset of the first tumor is 7.5 years, with a wide range observed (0.4-39 years). A large portion (up to 40%) of patients develop metachronous second malignancies. The median survival after diagnosis of the primary tumor is less than 30 months. Prognosis depends on the possibility of complete resection, making early detection paramount. It is unclear what tumor spectrum will emerge among adults with MMRCS. Brain tumors are frequent and often diagnosed in the first decade of life. The rate of progression appears to be rapid in the brain tumors. The median age at diagnosis of brain tumors is 9 years (range, 2-40 years). Brain tumors are by far the most common cause of death. Colonic adenomatous oligopolyposis typically is diagnosed between 5 and 10 years of age. The progression of adenomas to malignancy in MMRCS is the most rapid of any inherited colorectal cancer syndrome. Among MMRCS patients presenting with colorectal cancer (CRC), the median age at diagnosis was 16 years (range, 8-48 years) with more than half of patients classified as pediatric-onset CRC. The age of onset of small-bowel adenomas is later; they typically develop in the second decade of life. The median age at diagnosis of small-bowel cancer was 28 years, with a range of 11-42 years. The lifetime risk of gastrointestinal cancer among MMRCS patients is the highest reported of all gastrointestinal cancer predisposition syndromes as a function of age. The median age at diagnosis of hematologic malignancy is 6.6 years. Endometrial cancer has been diagnosed between 19 and 44 years. The age at diagnosis of urinary tract tumors has ranged from 10 to 22 years.

The management of MMRCS is based on the current estimates of neoplasia risk and the early age of onset for the cancers, which have led to tentative guidelines for the management of these patients. The age at which to begin surveillance varies by guideline and is represented below as age ranges. In patients with MMRCS, the following surveillance is suggested:

•Screening for CRC by colonoscopy is recommended annually beginning at age 6 to 8 years. Once polyps are identified, colonoscopy every 6 months is recommended.
•Annual surveillance for small-bowel cancer by upper endoscopy and video capsule endoscopy is suggested beginning at 8 to 10 years of age. Monitoring of hemoglobin levels every 6 months also is suggested, beginning at 8 years of age.
•Surveillance for brain tumors by brain MRI every 6 to 12 months is suggested starting at the time of diagnosis even in the first year of life to age 2 years.
•Currently, no proven surveillance modalities for leukemia or lymphoma have been identified. Complete blood count to screen for leukemia is suggested every 6 months beginning at 1 year of age. Clinical examinations and abdominal ultrasounds to screen for lymphoma every 6 months may be considered by the treating physician.
•For individuals with a uterus, surveillance for endometrial cancer is suggested by transvaginal ultrasound, pelvic examination, and endometrial sampling annually starting at age 20 years.
•Surveillance for cancer of the urinary tract is suggested, with annual urinalysis starting at age 10 to 20 years.
•To screen for other types of tumors, whole-body MRI could be considered once a year starting at 6 years of age or when anesthesia is not needed. This method should not replace the need for ultrasound and brain MRI.

Estimated penetrance in MMRCS:

•50% develop small-bowel adenomas
•>90% develop colorectal adenomas
•59 to 70% develop colorectal cancer
•58 to 70% develop high-grade brain tumours
•20-40% develop lymphoma
•10-40% develop leukemia
•10 to 18% develop small-bowel cancer
•<10% develop endometrial cancer
•<10% develop urinary tract cancer
•<10% develop cancer of other sites
Genomic newborn screening: BabyScreen+ v0.1800 MLH1 Zornitza Stark Mode of inheritance for gene: MLH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1795 MSH2 Zornitza Stark Mode of inheritance for gene: MSH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1793 MSH2 Zornitza Stark Tag for review tag was added to gene: MSH2.
Tag cancer tag was added to gene: MSH2.
Tag treatable tag was added to gene: MSH2.
Genomic newborn screening: BabyScreen+ v0.1793 MLH1 Zornitza Stark Tag for review tag was added to gene: MLH1.
Tag cancer tag was added to gene: MLH1.
Tag treatable tag was added to gene: MLH1.
Genomic newborn screening: BabyScreen+ v0.1791 TPRN Zornitza Stark Tag deafness tag was added to gene: TPRN.
Genomic newborn screening: BabyScreen+ v0.1790 STRC Zornitza Stark Tag for review was removed from gene: STRC.
Tag deafness tag was added to gene: STRC.
Genomic newborn screening: BabyScreen+ v0.1789 S1PR2 Zornitza Stark gene: S1PR2 was added
gene: S1PR2 was added to gNBS. Sources: ClinGen
deafness tags were added to gene: S1PR2.
Mode of inheritance for gene: S1PR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: S1PR2 were set to Deafness, autosomal recessive 68, MIM# 610419
Review for gene: S1PR2 was set to GREEN
Added comment: Assessed as 'strong actionability' in paediatric patients by ClinGen, onset of deafness is generally pre-lingual, therefore include.
Sources: ClinGen
Genomic newborn screening: BabyScreen+ v0.1787 PTPRQ Zornitza Stark gene: PTPRQ was added
gene: PTPRQ was added to gNBS. Sources: ClinGen
deafness tags were added to gene: PTPRQ.
Mode of inheritance for gene: PTPRQ was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PTPRQ were set to Deafness, autosomal recessive 84A, MIM# 613391; Deafness, autosomal dominant 73, MIM# 617663
Review for gene: PTPRQ was set to GREEN
Added comment: Assessed as 'strong actionability' in paediatric patients by ClinGen, onset of deafness is generally pre-lingual, therefore include.
Sources: ClinGen
Genomic newborn screening: BabyScreen+ v0.1785 POU3F4 Zornitza Stark Tag deafness tag was added to gene: POU3F4.
Genomic newborn screening: BabyScreen+ v0.1783 OTOG Zornitza Stark Tag deafness tag was added to gene: OTOG.
Genomic newborn screening: BabyScreen+ v0.1782 MYO3A Zornitza Stark Tag deafness tag was added to gene: MYO3A.
Genomic newborn screening: BabyScreen+ v0.1781 PRKG1 Zornitza Stark gene: PRKG1 was added
gene: PRKG1 was added to gNBS. Sources: ClinGen
for review, cardiac, treatable tags were added to gene: PRKG1.
Mode of inheritance for gene: PRKG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRKG1 were set to Aortic aneurysm, familial thoracic 8, MIM#615436
Penetrance for gene: PRKG1 were set to Incomplete
Review for gene: PRKG1 was set to AMBER
Added comment: Assessed as 'strong actionability' in paediatric patients by ClinGen.

FTAAD is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection, or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch, or descending aorta).

Variable age of clinical presentation.

Prophylactic surgical repair of the aorta is recommended at 4.5-5.0 cm for patients with pathogenic variants in MYH11, SMAD3, and ACTA2 and at 4.0-4.5 cm for patients with pathogenic variants in TGFBR1 or TGFBR2.

Beta adrenergic-blocking agents are recommended to reduce aortic dilation. Losartan was added as an alternative to beta adrenergic-blocking agents in FTAAD after studies showed its efficacy in children and young adults with MFS who were randomly assigned to losartan or atenolol.

Penetrance: A study of 31 individuals with PRKG1 pathogenic variants indicated that 63% presented with an aortic dissection and 37% had aortic root enlargement. The cumulative risk of an aortic dissection or repair of an aortic aneurysm by age 55 has been estimated as 86% (95% CI: 70-95%).
Sources: ClinGen
Genomic newborn screening: BabyScreen+ v0.1779 MYH11 Zornitza Stark Tag for review tag was added to gene: MYH11.
Tag cardiac tag was added to gene: MYH11.
Tag treatable tag was added to gene: MYH11.
Genomic newborn screening: BabyScreen+ v0.1778 LOX Zornitza Stark gene: LOX was added
gene: LOX was added to gNBS. Sources: ClinGen
for review, cardiac, treatable tags were added to gene: LOX.
Mode of inheritance for gene: LOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LOX were set to Aortic aneurysm, familial thoracic 10, MIM#617168
Penetrance for gene: LOX were set to Incomplete
Review for gene: LOX was set to AMBER
Added comment: Assessed as 'strong actionability' in paediatric patients by ClinGen.

FTAAD is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection, or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch, or descending aorta).

Variable age of clinical presentation.

Prophylactic surgical repair of the aorta is recommended at 4.5-5.0 cm for patients with pathogenic variants in MYH11, SMAD3, and ACTA2 and at 4.0-4.5 cm for patients with pathogenic variants in TGFBR1 or TGFBR2.

Beta adrenergic-blocking agents are recommended to reduce aortic dilation. Losartan was added as an alternative to beta adrenergic-blocking agents in FTAAD after studies showed its efficacy in children and young adults with MFS who were randomly assigned to losartan or atenolol.

Penetrance: A study of 15 individuals with LOX pathogenic variants indicated that 73% had aortic aneurysms and 1 individual (7%) had an aortic dissection.
Sources: ClinGen
Genomic newborn screening: BabyScreen+ v0.1776 ACTA2 Zornitza Stark Tag for review tag was added to gene: ACTA2.
Tag cardiac tag was added to gene: ACTA2.
Tag treatable tag was added to gene: ACTA2.
Genomic newborn screening: BabyScreen+ v0.1775 STK11 Zornitza Stark Tag cancer tag was added to gene: STK11.
Tag treatable tag was added to gene: STK11.
Genomic newborn screening: BabyScreen+ v0.1773 MCEE Zornitza Stark Tag for review tag was added to gene: MCEE.
Tag treatable tag was added to gene: MCEE.
Tag metabolic tag was added to gene: MCEE.
Genomic newborn screening: BabyScreen+ v0.1772 RUNX1 Zornitza Stark gene: RUNX1 was added
gene: RUNX1 was added to gNBS. Sources: ClinGen
for review, treatable, haematological tags were added to gene: RUNX1.
Mode of inheritance for gene: RUNX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RUNX1 were set to Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399
Review for gene: RUNX1 was set to AMBER
Added comment: Assessed as 'moderate actionability' in paediatric patients by ClinGen.

HTHCPS is characterized by mild to moderate thrombocytopenia with normal platelet size, abnormal platelet functioning (defective release of delta granules and/or aggregation defects), and an increased risk of developing a haematologic malignancy.

Age of onset of bleeding can be highly variable, with some individuals presenting in early infancy and others not recognizing their symptoms until much later in life. Severe thrombocytopenia or profound platelet dysfunction can result in recognition during the perinatal or infancy period. Hematologic malignancies can occur in childhood or adulthood; the range of age of onset is wide with a median age of 33 years.

Use of clotting promotors (e.g., desmopressin, epsilon aminocaproic acid, tranexamic acid) can be used for surgeries, injuries, or dental treatments. Platelet transfusions may be used for severe bleeding or procedures with a high bleeding risk.

Though there is no specific treatment for HTHCPS, there are recommendations regarding the indications and timing of hematopoietic stem cell transplantation (HSCT) that vary. HSCT in pre-malignancy patients, particularly in the absence of any clonal progression, is debatable due to transplantation-associated risks and incomplete penetrance. Some suggested indications for HSCT include severe or symptomatic cytopenias, severe marrow dysplasia (particularly in the context of falling blood counts), complex or high-risk (e.g., monosomy 7) cytogenetic abnormalities (particularly if the clones are large or increasing in size) and increasing blasts >5%.

Consider use of a medical alert bracelet for thrombocytopenia, platelet dysfunction, or hematologic malignancy as indicated.
Sources: ClinGen
Genomic newborn screening: BabyScreen+ v0.1770 DICER1 Zornitza Stark Tag for review tag was added to gene: DICER1.
Tag cancer tag was added to gene: DICER1.
Tag treatable tag was added to gene: DICER1.
Genomic newborn screening: BabyScreen+ v0.1770 DICER1 Zornitza Stark gene: DICER1 was added
gene: DICER1 was added to gNBS. Sources: ClinGen
Mode of inheritance for gene: DICER1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DICER1 were set to DICER1 syndrome, MONDO:0017288
Penetrance for gene: DICER1 were set to Incomplete
Review for gene: DICER1 was set to AMBER
Added comment: Rated as 'moderate actionability' in paediatric patients by ClinGen.

A multiple registry study examining neoplasm incidence in a cohort containing 102 non-probands with DICER1 pathogenic variants (3,344 person-years of observation in non-probands) found that by age 10 years, 5.3% (95% CI, 0.6% to 9.7%) of non-probands had developed a neoplasm (females, 4.0%; males, 6.6%). By age 50 years, 19.3% (95% CI, 8.4% to 29.0%) of non-probands had developed a neoplasm (females, 26.5%; males, 10.2%).

Most individuals with pathogenic variants in DICER1 are healthy or have only minor DICER1-associaited conditions. The most severe manifestations tend to present in early childhood with adulthood characterized by good health. The majority of tumors in individuals with DICER1 pathogenic variants occur in individuals younger than 40. Many of these tumors typically only occur in childhood, including: PPB (before age 7), CN (before age 4), CBME typically occurs in young children, pituitary blastoma (before age 2), and childhood pineoblastoma (only one has been reported associated with a DICER1 mutation).

Surveillance recommendations:
In order to detect pulmonary cysts or PPB (one of the most important causes of DICER1-associated morbidity and mortality), chest x-rays are recommended every 6 months from birth to through age 7 years and then annually from 8-12 years. A chest computed tomography (CT) (with efforts to minimize radiation) should be obtained by 9 months of age, preferably between 3 and 6 months of age and repeated at approximately 2.5 years of age.

Abdominal ultrasound is recommended for the detection in infancy or at the time of the first chest CT then every 6-12 months until at least 8 years of age. Annual ultrasound may be considered until 12 years of age.

Beginning at ages 8-10 females should receive pelvic ultrasound performed in conjunction with abdominal ultrasound (every 6-12 months) until at least age 40 or as needed for signs and symptoms.

Individuals should undergo thyroid ultrasound with assessment for regional adenopathy every 2 to 3 years starting at age 8 or as needed for signs and symptoms.

An annual routine dilated ophthalmologic exam with visual acuity screening is recommended from age 3 to at least age 10 for detection of CBME.
Sources: ClinGen
Genomic newborn screening: BabyScreen+ v0.1768 BRCA1 Zornitza Stark Mode of inheritance for gene: BRCA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1766 BRCA1 Zornitza Stark Tag treatable tag was added to gene: BRCA1.
Tag haematological tag was added to gene: BRCA1.
Genomic newborn screening: BabyScreen+ v0.1765 BRCA2 Zornitza Stark Mode of inheritance for gene: BRCA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1763 BRCA2 Zornitza Stark Tag treatable tag was added to gene: BRCA2.
Tag haematological tag was added to gene: BRCA2.
Genomic newborn screening: BabyScreen+ v0.1762 KCNQ1 Zornitza Stark Tag for review tag was added to gene: KCNQ1.
Tag cardiac tag was added to gene: KCNQ1.
Tag treatable tag was added to gene: KCNQ1.
Genomic newborn screening: BabyScreen+ v0.1761 KCNH2 Zornitza Stark Tag for review tag was added to gene: KCNH2.
Tag cardiac tag was added to gene: KCNH2.
Tag treatable tag was added to gene: KCNH2.
Genomic newborn screening: BabyScreen+ v0.1761 TMEM43 Zornitza Stark Tag for review tag was added to gene: TMEM43.
Tag cardiac tag was added to gene: TMEM43.
Tag treatable tag was added to gene: TMEM43.
Genomic newborn screening: BabyScreen+ v0.1760 PKP2 Zornitza Stark Tag for review tag was added to gene: PKP2.
Tag cardiac tag was added to gene: PKP2.
Tag treatable tag was added to gene: PKP2.
Genomic newborn screening: BabyScreen+ v0.1759 DSP Zornitza Stark Mode of inheritance for gene: DSP was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1758 DSP Zornitza Stark Tag for review tag was added to gene: DSP.
Tag cardiac tag was added to gene: DSP.
Tag treatable tag was added to gene: DSP.
Genomic newborn screening: BabyScreen+ v0.1757 DSG2 Zornitza Stark Tag for review tag was added to gene: DSG2.
Tag cardiac tag was added to gene: DSG2.
Tag treatable tag was added to gene: DSG2.
Genomic newborn screening: BabyScreen+ v0.1756 JUP Zornitza Stark Tag for review tag was added to gene: JUP.
Tag cardiac tag was added to gene: JUP.
Tag treatable tag was added to gene: JUP.
Genomic newborn screening: BabyScreen+ v0.1755 DSC2 Zornitza Stark Mode of inheritance for gene: DSC2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1754 DSC2 Zornitza Stark Tag for review tag was added to gene: DSC2.
Tag cardiac tag was added to gene: DSC2.
Tag treatable tag was added to gene: DSC2.
Genomic newborn screening: BabyScreen+ v0.1753 OAT Zornitza Stark gene: OAT was added
gene: OAT was added to gNBS. Sources: ClinGen
for review, treatable, metabolic tags were added to gene: OAT.
Mode of inheritance for gene: OAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OAT were set to Gyrate atrophy of choroid and retina with or without ornithinemia MIM#258870
Review for gene: OAT was set to GREEN
Added comment: Rated as 'moderate actionability' in paediatric patients by ClinGen.

GA due to deficiency of the enzyme ornithine aminotransferase (OAT) is characterized by a triad of progressive chorioretinal degeneration, early cataract formation, and type II muscle fiber atrophy. GA first presents as night blindness and constriction of the visual field caused by sharply demarcated circular areas of chorioretinal atrophy in the periphery. Atrophic areas progressively increase, coalesce, and spread towards the macula leading to central visual loss and blindness (vision less than 20/200).

Age at diagnosis ranges from 1 month to 44 years. The condition is characterized by the development of chorioretinal atrophic patches that start in the mid-peripheral retina in the first decade of life. Myopia, night blindness, changes in the macula (including cystic changes), and visual field affection usually start in the first or second decade. Most patients with GA have posterior subcapsular cataracts by the end of the second decade. Irreversible loss of vision and blindness generally occurs between 40 and 55 years of age but is highly variable.

Treatment of GA consists mainly of dietary modifications to help lower elevated systemic ornithine levels. Restriction of dietary arginine, a precursor of ornithine, appears to have therapeutic value. Pediatric patients undergoing arginine restriction should receive enough calories in their diet supplemented by essential amino acids, vitamins, and minerals to avoid malnutrition and excessive break down of endogenous proteins.

A long-term observational study of 27 patients with GA, 17 who complied with the arginine-restricted diet and 10 who were noncompliant, found that at 14 years follow-up the rates of vision loss were significantly slower in the compliant group for 3 of the 4 outcome measures, when adjusted for age.
Sources: ClinGen
Genomic newborn screening: BabyScreen+ v0.1750 PCSK9 Zornitza Stark Tag for review tag was added to gene: PCSK9.
Tag treatable tag was added to gene: PCSK9.
Tag metabolic tag was added to gene: PCSK9.
Genomic newborn screening: BabyScreen+ v0.1748 PRKAR1A Zornitza Stark Tag for review tag was added to gene: PRKAR1A.
Tag cancer tag was added to gene: PRKAR1A.
Tag treatable tag was added to gene: PRKAR1A.
Genomic newborn screening: BabyScreen+ v0.1746 RPS10 Zornitza Stark Tag treatable tag was added to gene: RPS10.
Tag haematological tag was added to gene: RPS10.
Genomic newborn screening: BabyScreen+ v0.1746 MEN1 Zornitza Stark Tag treatable tag was added to gene: MEN1.
Genomic newborn screening: BabyScreen+ v0.1746 MEN1 Zornitza Stark Tag for review tag was added to gene: MEN1.
Tag cancer tag was added to gene: MEN1.
Genomic newborn screening: BabyScreen+ v0.1745 SCN5A Zornitza Stark Tag for review tag was added to gene: SCN5A.
Tag cardiac tag was added to gene: SCN5A.
Tag treatable tag was added to gene: SCN5A.
Genomic newborn screening: BabyScreen+ v0.1743 SLC26A4 Zornitza Stark Tag for review was removed from gene: SLC26A4.
Tag deafness tag was added to gene: SLC26A4.
Genomic newborn screening: BabyScreen+ v0.1741 TGFB3 Zornitza Stark Tag for review tag was added to gene: TGFB3.
Tag cardiac tag was added to gene: TGFB3.
Tag treatable tag was added to gene: TGFB3.
Genomic newborn screening: BabyScreen+ v0.1740 TGFB2 Zornitza Stark Tag for review tag was added to gene: TGFB2.
Tag cardiac tag was added to gene: TGFB2.
Tag treatable tag was added to gene: TGFB2.
Genomic newborn screening: BabyScreen+ v0.1740 TGFB2 Zornitza Stark gene: TGFB2 was added
gene: TGFB2 was added to gNBS. Sources: ClinGen
Mode of inheritance for gene: TGFB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFB2 were set to Loeys-Dietz syndrome 4, MIM# 614816
Review for gene: TGFB2 was set to GREEN
Added comment: Rated as 'strong actionability' in paediatric patients by ClinGen.

Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms which are the major source of morbidity and mortality. Aortic growth can be faster than 10mm per year. Aortic dissection has been observed in early childhood, and the mean age of death is 26 years. Other life-threatening manifestations include spontaneous rupture of the spleen, bowel, and uterine rupture during pregnancy.

Prophylactic surgical repair is typically recommended at an aortic diameter of ≥ 4.2 cm.

Beta-blockers or other medications can be used to reduce hemodynamic stress.

Consider Medicalert bracelet.

Use of subacute bacterial endocarditis prophylaxis should be considered for individuals with connective tissue disorders and documented evidence of mitral and/or aortic regurgitation who are undergoing dental work or other procedures expected to contaminate the bloodstream with bacteria.

Because of a high risk of cervical spine instability, a flexion and extension x-ray of the cervical spine should be performed prior to intubation or any other procedure involving manipulation of the neck.
Sources: ClinGen
Genomic newborn screening: BabyScreen+ v0.1737 TRDN Zornitza Stark Tag for review tag was added to gene: TRDN.
Tag cardiac tag was added to gene: TRDN.
Tag treatable tag was added to gene: TRDN.
Genomic newborn screening: BabyScreen+ v0.1736 TECRL Zornitza Stark gene: TECRL was added
gene: TECRL was added to gNBS. Sources: ClinGen
for review, cardiac, treatable tags were added to gene: TECRL.
Mode of inheritance for gene: TECRL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TECRL were set to Ventricular tachycardia, catecholaminergic polymorphic, 3, MIM# 614021
Review for gene: TECRL was set to GREEN
Added comment: Rated as 'strong actionability' for paediatric patients by ClinGen.

The mean age of onset of symptoms (usually a syncopal episode) of CPVT is between age seven and twelve years; onset as late as the fourth decade of life has been reported. Nearly 60% of patients have at least one syncopal episode before age 40. If untreated, CPVT is highly lethal, as approximately 30% of genetically affected individuals experience at least one cardiac arrest and up to 80% one or more syncopal spells. In untreated patients, the 8-year fatal or near-fatal event rates of 25% have been reported. Sudden death may be the first manifestation of the disease.

Beta-blockers lacking intrinsic sympathomimetic activity are recommended as a first-line therapy in all patients with a clinical diagnosis of CPVT, including those with documented spontaneous, stress-induced VAs. Guidelines differ in their recommendations about utilizing beta-blocker therapy in phenotype negative individuals. Treatment with beta blockers is associated with a reduction in adverse cardiac events. However, variability in outcome with beta-blocker therapy is due to multiple factors, including dosing and compliance. In a study of 101 patients with CPVT (22 diagnosed clinically and 79 diagnosed molecularly), 81 were administered beta-blockers (57 symptomatic and 24 asymptomatic individuals). Estimated 4- and 8-year cardiac event rates were 8% and 27%, respectively in patients taking beta-blockers, and 33% and 58% in those not taking beta blockers (log-rank p=0.01). Corresponding statistics for fatal events were 1% and 11% with beta-blockers vs. 18% and 25% without (log-rank p=0.05). Event rates in asymptomatic patients with a positive genotype were similar to other patients. In multivariate models, absence of beta-blockers was an independent predictor of cardiac events (hazard ratio [HR], 5.48; 95% CI, 1.8 to 16.7, p=0.003) and of fatal events (HR, 5.54; 95% CI, 1.2 to 26.1, p=0.03). Of the 37 asymptomatic patients with a positive genotype, 9 (24%) had cardiac events.

In patients with CPVT and recurrent sustained VT or syncope, while receiving adequate or maximally tolerated beta blocker, treatment intensification with either combination medication therapy (e.g., beta blocker with flecainide), left cardiac sympathetic denervation, and/or an ICD is recommended.

Clinical penetrance ranges from 25 to 100%, with an average of 70 to 80%. Syncope appears to be the first symptom in more than half of the patients. When untreated, mortality from CPVT is high, reaching 30 to 50% by the age of 30 years.

For review: age of onset and penetrance.
Sources: ClinGen
Genomic newborn screening: BabyScreen+ v0.1734 CALM3 Zornitza Stark gene: CALM3 was added
gene: CALM3 was added to gNBS. Sources: ClinGen
for review, cardiac, treatable tags were added to gene: CALM3.
Mode of inheritance for gene: CALM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CALM3 were set to Ventricular tachycardia, catecholaminergic polymorphic 6 , MIM# 618782
Penetrance for gene: CALM3 were set to Incomplete
Review for gene: CALM3 was set to GREEN
Added comment: Rated as 'strong actionability' for paediatric patients by ClinGen.

The mean age of onset of symptoms (usually a syncopal episode) of CPVT is between age seven and twelve years; onset as late as the fourth decade of life has been reported. Nearly 60% of patients have at least one syncopal episode before age 40. If untreated, CPVT is highly lethal, as approximately 30% of genetically affected individuals experience at least one cardiac arrest and up to 80% one or more syncopal spells. In untreated patients, the 8-year fatal or near-fatal event rates of 25% have been reported. Sudden death may be the first manifestation of the disease. Instances of sudden infant death syndrome (SIDS) have been associated with pathogenic variants in RYR2.

Individuals with pathogenic variants in CALM1, CALM2 or CALM3 can have a severe phenotype, with earlier onset, QT prolongation, and a high predilection for cardiac arrest and sudden death.

Beta-blockers lacking intrinsic sympathomimetic activity are recommended as a first-line therapy in all patients with a clinical diagnosis of CPVT, including those with documented spontaneous, stress-induced VAs. Guidelines differ in their recommendations about utilizing beta-blocker therapy in phenotype negative individuals. Treatment with beta blockers is associated with a reduction in adverse cardiac events. However, variability in outcome with beta-blocker therapy is due to multiple factors, including dosing and compliance. In a study of 101 patients with CPVT (22 diagnosed clinically and 79 diagnosed molecularly), 81 were administered beta-blockers (57 symptomatic and 24 asymptomatic individuals). Estimated 4- and 8-year cardiac event rates were 8% and 27%, respectively in patients taking beta-blockers, and 33% and 58% in those not taking beta blockers (log-rank p=0.01). Corresponding statistics for fatal events were 1% and 11% with beta-blockers vs. 18% and 25% without (log-rank p=0.05). Event rates in asymptomatic patients with a positive genotype were similar to other patients. In multivariate models, absence of beta-blockers was an independent predictor of cardiac events (hazard ratio [HR], 5.48; 95% CI, 1.8 to 16.7, p=0.003) and of fatal events (HR, 5.54; 95% CI, 1.2 to 26.1, p=0.03). Of the 37 asymptomatic patients with a positive genotype, 9 (24%) had cardiac events.

In patients with CPVT and recurrent sustained VT or syncope, while receiving adequate or maximally tolerated beta blocker, treatment intensification with either combination medication therapy (e.g., beta blocker with flecainide), left cardiac sympathetic denervation, and/or an ICD is recommended.

Clinical penetrance ranges from 25 to 100%, with an average of 70 to 80%. Syncope appears to be the first symptom in more than half of the patients. When untreated, mortality from CPVT is high, reaching 30 to 50% by the age of 30 years.

For review: age of onset and penetrance.
Sources: ClinGen
Genomic newborn screening: BabyScreen+ v0.1732 CALM2 Zornitza Stark gene: CALM2 was added
gene: CALM2 was added to gNBS. Sources: ClinGen
for review, cardiac, treatable tags were added to gene: CALM2.
Mode of inheritance for gene: CALM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CALM2 were set to Catecholaminergic polymorphic ventricular tachycardia MONDO:0017990
Review for gene: CALM2 was set to GREEN
Added comment: Rated as 'strong actionability' for paediatric patients by ClinGen.

The mean age of onset of symptoms (usually a syncopal episode) of CPVT is between age seven and twelve years; onset as late as the fourth decade of life has been reported. Nearly 60% of patients have at least one syncopal episode before age 40. If untreated, CPVT is highly lethal, as approximately 30% of genetically affected individuals experience at least one cardiac arrest and up to 80% one or more syncopal spells. In untreated patients, the 8-year fatal or near-fatal event rates of 25% have been reported. Sudden death may be the first manifestation of the disease. Instances of sudden infant death syndrome (SIDS) have been associated with pathogenic variants in RYR2.

Individuals with pathogenic variants in CALM1, CALM2 or CALM3 can have a severe phenotype, with earlier onset, QT prolongation, and a high predilection for cardiac arrest and sudden death.

Beta-blockers lacking intrinsic sympathomimetic activity are recommended as a first-line therapy in all patients with a clinical diagnosis of CPVT, including those with documented spontaneous, stress-induced VAs. Guidelines differ in their recommendations about utilizing beta-blocker therapy in phenotype negative individuals. Treatment with beta blockers is associated with a reduction in adverse cardiac events. However, variability in outcome with beta-blocker therapy is due to multiple factors, including dosing and compliance. In a study of 101 patients with CPVT (22 diagnosed clinically and 79 diagnosed molecularly), 81 were administered beta-blockers (57 symptomatic and 24 asymptomatic individuals). Estimated 4- and 8-year cardiac event rates were 8% and 27%, respectively in patients taking beta-blockers, and 33% and 58% in those not taking beta blockers (log-rank p=0.01). Corresponding statistics for fatal events were 1% and 11% with beta-blockers vs. 18% and 25% without (log-rank p=0.05). Event rates in asymptomatic patients with a positive genotype were similar to other patients. In multivariate models, absence of beta-blockers was an independent predictor of cardiac events (hazard ratio [HR], 5.48; 95% CI, 1.8 to 16.7, p=0.003) and of fatal events (HR, 5.54; 95% CI, 1.2 to 26.1, p=0.03). Of the 37 asymptomatic patients with a positive genotype, 9 (24%) had cardiac events.

In patients with CPVT and recurrent sustained VT or syncope, while receiving adequate or maximally tolerated beta blocker, treatment intensification with either combination medication therapy (e.g., beta blocker with flecainide), left cardiac sympathetic denervation, and/or an ICD is recommended.

Clinical penetrance ranges from 25 to 100%, with an average of 70 to 80%. Syncope appears to be the first symptom in more than half of the patients. When untreated, mortality from CPVT is high, reaching 30 to 50% by the age of 30 years.

For review: age of onset and penetrance.
Sources: ClinGen
Genomic newborn screening: BabyScreen+ v0.1730 CALM1 Zornitza Stark gene: CALM1 was added
gene: CALM1 was added to gNBS. Sources: ClinGen
for review, cardiac, treatable tags were added to gene: CALM1.
Mode of inheritance for gene: CALM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CALM1 were set to Ventricular tachycardia, catecholaminergic polymorphic, 4, MIM# 614916
Penetrance for gene: CALM1 were set to Incomplete
Review for gene: CALM1 was set to GREEN
Added comment: Rated as 'strong actionability' for paediatric patients by ClinGen.

The mean age of onset of symptoms (usually a syncopal episode) of CPVT is between age seven and twelve years; onset as late as the fourth decade of life has been reported. Nearly 60% of patients have at least one syncopal episode before age 40. If untreated, CPVT is highly lethal, as approximately 30% of genetically affected individuals experience at least one cardiac arrest and up to 80% one or more syncopal spells. In untreated patients, the 8-year fatal or near-fatal event rates of 25% have been reported. Sudden death may be the first manifestation of the disease. Instances of sudden infant death syndrome (SIDS) have been associated with pathogenic variants in RYR2.

Individuals with pathogenic variants in CALM1, CALM2 or CALM3 can have a severe phenotype, with earlier onset, QT prolongation, and a high predilection for cardiac arrest and sudden death.

Beta-blockers lacking intrinsic sympathomimetic activity are recommended as a first-line therapy in all patients with a clinical diagnosis of CPVT, including those with documented spontaneous, stress-induced VAs. Guidelines differ in their recommendations about utilizing beta-blocker therapy in phenotype negative individuals. Treatment with beta blockers is associated with a reduction in adverse cardiac events. However, variability in outcome with beta-blocker therapy is due to multiple factors, including dosing and compliance. In a study of 101 patients with CPVT (22 diagnosed clinically and 79 diagnosed molecularly), 81 were administered beta-blockers (57 symptomatic and 24 asymptomatic individuals). Estimated 4- and 8-year cardiac event rates were 8% and 27%, respectively in patients taking beta-blockers, and 33% and 58% in those not taking beta blockers (log-rank p=0.01). Corresponding statistics for fatal events were 1% and 11% with beta-blockers vs. 18% and 25% without (log-rank p=0.05). Event rates in asymptomatic patients with a positive genotype were similar to other patients. In multivariate models, absence of beta-blockers was an independent predictor of cardiac events (hazard ratio [HR], 5.48; 95% CI, 1.8 to 16.7, p=0.003) and of fatal events (HR, 5.54; 95% CI, 1.2 to 26.1, p=0.03). Of the 37 asymptomatic patients with a positive genotype, 9 (24%) had cardiac events.

In patients with CPVT and recurrent sustained VT or syncope, while receiving adequate or maximally tolerated beta blocker, treatment intensification with either combination medication therapy (e.g., beta blocker with flecainide), left cardiac sympathetic denervation, and/or an ICD is recommended.

Clinical penetrance ranges from 25 to 100%, with an average of 70 to 80%. Syncope appears to be the first symptom in more than half of the patients. When untreated, mortality from CPVT is high, reaching 30 to 50% by the age of 30 years.

For review: age of onset and penetrance.
Sources: ClinGen
Genomic newborn screening: BabyScreen+ v0.1728 RPE65 Zornitza Stark gene: RPE65 was added
gene: RPE65 was added to gNBS. Sources: ClinGen
for review, treatable, ophthalmological tags were added to gene: RPE65.
Mode of inheritance for gene: RPE65 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPE65 were set to Leber congenital amaurosis 2 MIM#204100; Retinitis pigmentosa 20 MIM#613794
Review for gene: RPE65 was set to GREEN
Added comment: Assessed as 'strong actionability' in paediatric patients by ClinGen.

Biallelic RPE65 mutation-associated retinal dystrophy is a form of IRD caused by biallelic pathogenic variants in RPE65; it presents as a spectrum of disease with variable age of onset and progression of vision loss. Common clinical findings across the spectrum include night blindness, progressive loss of visual fields and loss of central vision.

In LCA, night blindness often occurs from birth. Characteristically, these patients have residual cone-mediated vision in the first to third decades with progressive visual field loss until complete blindness is observed, most often in mid- to late-adulthood. A range of age of onset has been described for night blindness in RP, but it typically onsets in later childhood.

In December 2017, the FDA approved LUXTURNA (voretigene neparvovec-rzyl) gene therapy for the treatment of patients with confirmed biallelic RPE65 mutation-associated retinal dystrophy. The FDA’s conclusion of efficacy is based on improvement in a functional vision score over 1 year in a single open-label controlled Phase 3 study of 31 affected patients. The average age of the 31 randomized patients was 15 years (range 4 to 44 years), including 64% pediatric subjects (n=20, age from 4 to 17 years) and 36% adults (n=11). Functional vision was scored by a patient’s ability to navigate a course in various luminance levels. Using both treated eyes of the 21 subjects in the LUXTURNA treatment group, 11 (52%) had a clinically meaningful score improvement, while only one of the ten (10%) subjects in the control group had a clinically meaningful score improvement. Using the first treated eye only, 15/21 (71%) had a clinically meaningful score improvement, while no comparable score improvement was observed in controls. Other secondary clinical outcomes were also examined. Analysis of white light full-field light sensitivity threshold testing showed statistically significant improvement at 1 year in the LUXTURNA treatment group compared to the control group. The change in visual acuity was not significantly different between the LUXTURNA and control groups.

LUXTURNA is administered subretinally by injection. Per the FDA package insert, the most common adverse reactions (incidence ≥ 5%) in the clinical trials for LUXTURNA included conjunctival hyperemia, cataract, increased intraocular pressure, retinal tear, dellen (thinning of the corneal stroma), and macular hole. Several other ocular adverse effects were also reported, including risk of endophthalmitis. Safety data was included on the basis of 41 patients (81 eyes).

For review: availability of therapy?
Sources: ClinGen
Genomic newborn screening: BabyScreen+ v0.1726 CP Zornitza Stark Tag treatable tag was added to gene: CP.
Tag metabolic tag was added to gene: CP.
Genomic newborn screening: BabyScreen+ v0.1725 WT1 Zornitza Stark Tag for review tag was added to gene: WT1.
Tag cancer tag was added to gene: WT1.
Tag treatable tag was added to gene: WT1.
Genomic newborn screening: BabyScreen+ v0.1724 ITGB3 Zornitza Stark gene: ITGB3 was added
gene: ITGB3 was added to gNBS. Sources: ClinGen
treatable, haematological tags were added to gene: ITGB3.
Mode of inheritance for gene: ITGB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGB3 were set to Glanzmann thrombasthenia 2, MIM# 619267
Review for gene: ITGB3 was set to GREEN
Added comment: Rated as 'strong actionability' in paediatric patients by ClinGen.

GT can present soon after birth with episodic mucocutaneous bleeding, purpura, petechiae, unprovoked bruising, and excessive bleeding from the umbilical stump or post-circumcision. Major bleeding complications during the neonatal period, such as ICH following delivery are rare. The clinical severity of GT tends to diminish with age, although the bleeding manifestations persist and are life-long.

Recombinant activated factor VII (rFVIIa) may be considered for patients with: moderate to severe acute bleeding; for treatment of refractory minor bleeds; for prophylaxis in patients with frequent severe bleeds; treatment during minor and major surgery; and in patients who are refractory to platelet transfusion. Some guidelines suggest utilizing rFVIIa as a first line therapy and saving platelet transfusion for more severe or non-responsive bleeds. High doses have been successful, particularly if used early and upfront. rFVIIa in a dose of =80 µg/kg at intervals of 2.5 h or less were observed to be safe and effective in nonsurgical bleeds, minor and major procedures in patients with or without antibodies, and/or refractoriness.

The International Glanzmann Thrombasthenia Registry (GTR), published in 2015, studied 184 patients with 829 bleeding episodes and 96 patients with 206 surgical interventions. rFVIIa alone was used in 124/829 bleeds and the proportion of successful treatment to stop bleeding was 91%. In patients without antibodies/refractoriness, rFVIIa, either alone or with antifibrinolytics, and platelets±antifibrinolytics were rated 100% effective for 24 minor and 4 major procedures. The lowest effectiveness of rFVIIa treatment alone was 88.9% (16/18 effective minor procedures) in refractory patients with platelet antibodies.

Desmopressin (DDAVP) may be considered as an additional treatment for mild bleeding episodes. DDAVP has been shown to be effective in many bleeding disorders, including inherited platelet function disorders. However, DDAVP efficacy among GT patients has not been established and guideline recommendations are conflicting.
Sources: ClinGen
Genomic newborn screening: BabyScreen+ v0.1722 ITGA2B Zornitza Stark gene: ITGA2B was added
gene: ITGA2B was added to gNBS. Sources: ClinGen
treatable, haematological tags were added to gene: ITGA2B.
Mode of inheritance for gene: ITGA2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGA2B were set to Glanzmann thrombasthaenia 1, MIM# 273800
Review for gene: ITGA2B was set to GREEN
Added comment: Rated as 'strong actionability' in paediatric patients by ClinGen.

GT can present soon after birth with episodic mucocutaneous bleeding, purpura, petechiae, unprovoked bruising, and excessive bleeding from the umbilical stump or post-circumcision. Major bleeding complications during the neonatal period, such as ICH following delivery are rare. The clinical severity of GT tends to diminish with age, although the bleeding manifestations persist and are life-long.

Recombinant activated factor VII (rFVIIa) may be considered for patients with: moderate to severe acute bleeding; for treatment of refractory minor bleeds; for prophylaxis in patients with frequent severe bleeds; treatment during minor and major surgery; and in patients who are refractory to platelet transfusion. Some guidelines suggest utilizing rFVIIa as a first line therapy and saving platelet transfusion for more severe or non-responsive bleeds. High doses have been successful, particularly if used early and upfront. rFVIIa in a dose of =80 µg/kg at intervals of 2.5 h or less were observed to be safe and effective in nonsurgical bleeds, minor and major procedures in patients with or without antibodies, and/or refractoriness.

The International Glanzmann Thrombasthenia Registry (GTR), published in 2015, studied 184 patients with 829 bleeding episodes and 96 patients with 206 surgical interventions. rFVIIa alone was used in 124/829 bleeds and the proportion of successful treatment to stop bleeding was 91%. In patients without antibodies/refractoriness, rFVIIa, either alone or with antifibrinolytics, and platelets±antifibrinolytics were rated 100% effective for 24 minor and 4 major procedures. The lowest effectiveness of rFVIIa treatment alone was 88.9% (16/18 effective minor procedures) in refractory patients with platelet antibodies.

Desmopressin (DDAVP) may be considered as an additional treatment for mild bleeding episodes. DDAVP has been shown to be effective in many bleeding disorders, including inherited platelet function disorders. However, DDAVP efficacy among GT patients has not been established and guideline recommendations are conflicting.
Sources: ClinGen
Genomic newborn screening: BabyScreen+ v0.1721 F7 Zornitza Stark Tag for review was removed from gene: F7.
Genomic newborn screening: BabyScreen+ v0.1721 ABCC8 Zornitza Stark Tag treatable tag was added to gene: ABCC8.
Tag endocrine tag was added to gene: ABCC8.
Genomic newborn screening: BabyScreen+ v0.1721 COL9A2 Zornitza Stark Tag treatable tag was added to gene: COL9A2.
Tag ophthalmological tag was added to gene: COL9A2.
Genomic newborn screening: BabyScreen+ v0.1721 COL9A1 Zornitza Stark Tag treatable tag was added to gene: COL9A1.
Tag ophthalmological tag was added to gene: COL9A1.
Genomic newborn screening: BabyScreen+ v0.1716 TECTA Zornitza Stark Mode of inheritance for gene: TECTA was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1715 TECTA Zornitza Stark Tag deafness tag was added to gene: TECTA.
Genomic newborn screening: BabyScreen+ v0.1714 TCN2 Zornitza Stark Tag treatable tag was added to gene: TCN2.
Tag metabolic tag was added to gene: TCN2.
Genomic newborn screening: BabyScreen+ v0.1714 TCIRG1 Zornitza Stark Tag treatable tag was added to gene: TCIRG1.
Tag skeletal tag was added to gene: TCIRG1.
Genomic newborn screening: BabyScreen+ v0.1714 TCF3 Zornitza Stark Tag treatable tag was added to gene: TCF3.
Tag immunological tag was added to gene: TCF3.
Genomic newborn screening: BabyScreen+ v0.1714 TAT Zornitza Stark Tag metabolic tag was added to gene: TAT.
Genomic newborn screening: BabyScreen+ v0.1714 STXBP2 Zornitza Stark Tag treatable tag was added to gene: STXBP2.
Tag immunological tag was added to gene: STXBP2.
Genomic newborn screening: BabyScreen+ v0.1714 STX11 Zornitza Stark Tag treatable tag was added to gene: STX11.
Tag immunological tag was added to gene: STX11.
Genomic newborn screening: BabyScreen+ v0.1714 STAT3 Zornitza Stark Tag treatable tag was added to gene: STAT3.
Tag immunological tag was added to gene: STAT3.
Genomic newborn screening: BabyScreen+ v0.1714 STAR Zornitza Stark Tag treatable tag was added to gene: STAR.
Tag endocrine tag was added to gene: STAR.
Genomic newborn screening: BabyScreen+ v0.1714 SRP54 Zornitza Stark Tag treatable tag was added to gene: SRP54.
Tag immunological tag was added to gene: SRP54.
Genomic newborn screening: BabyScreen+ v0.1714 SPR Zornitza Stark Tag treatable tag was added to gene: SPR.
Tag neurological tag was added to gene: SPR.
Genomic newborn screening: BabyScreen+ v0.1714 SP110 Zornitza Stark Tag treatable tag was added to gene: SP110.
Tag immunological tag was added to gene: SP110.
Genomic newborn screening: BabyScreen+ v0.1714 SMPD1 Zornitza Stark Tag treatable tag was added to gene: SMPD1.
Tag metabolic tag was added to gene: SMPD1.
Genomic newborn screening: BabyScreen+ v0.1714 SMN1 Zornitza Stark Tag neurological tag was added to gene: SMN1.
Genomic newborn screening: BabyScreen+ v0.1714 SLC5A7 Zornitza Stark Tag treatable tag was added to gene: SLC5A7.
Tag neurological tag was added to gene: SLC5A7.
Genomic newborn screening: BabyScreen+ v0.1714 SLC34A3 Zornitza Stark Tag skeletal tag was added to gene: SLC34A3.
Genomic newborn screening: BabyScreen+ v0.1714 SLC26A3 Zornitza Stark Tag treatable tag was added to gene: SLC26A3.
Tag gastrointestinal tag was added to gene: SLC26A3.
Genomic newborn screening: BabyScreen+ v0.1714 SLC25A15 Zornitza Stark Tag treatable tag was added to gene: SLC25A15.
Tag metabolic tag was added to gene: SLC25A15.
Genomic newborn screening: BabyScreen+ v0.1712 SLC22A5 Zornitza Stark Tag metabolic tag was added to gene: SLC22A5.
Genomic newborn screening: BabyScreen+ v0.1712 SLC19A3 Zornitza Stark Tag metabolic tag was added to gene: SLC19A3.
Genomic newborn screening: BabyScreen+ v0.1712 SLC19A2 Zornitza Stark Tag metabolic tag was added to gene: SLC19A2.
Genomic newborn screening: BabyScreen+ v0.1712 SLC18A3 Zornitza Stark Tag treatable tag was added to gene: SLC18A3.
Tag neurological tag was added to gene: SLC18A3.
Genomic newborn screening: BabyScreen+ v0.1712 SLC12A1 Zornitza Stark Tag treatable tag was added to gene: SLC12A1.
Tag renal tag was added to gene: SLC12A1.
Genomic newborn screening: BabyScreen+ v0.1712 SI Zornitza Stark Tag treatable tag was added to gene: SI.
Tag gastrointestinal tag was added to gene: SI.
Genomic newborn screening: BabyScreen+ v0.1712 SH2D1A Zornitza Stark Tag treatable tag was added to gene: SH2D1A.
Tag immunological tag was added to gene: SH2D1A.
Genomic newborn screening: BabyScreen+ v0.1712 SCNN1B Zornitza Stark Tag treatable tag was added to gene: SCNN1B.
Tag endocrine tag was added to gene: SCNN1B.
Genomic newborn screening: BabyScreen+ v0.1712 SCNN1A Zornitza Stark Tag endocrine tag was added to gene: SCNN1A.
Genomic newborn screening: BabyScreen+ v0.1712 SBDS Zornitza Stark Tag haematological tag was added to gene: SBDS.
Tag gastrointestinal tag was added to gene: SBDS.
Genomic newborn screening: BabyScreen+ v0.1712 SAMHD1 Zornitza Stark Tag for review tag was added to gene: SAMHD1.
Tag neurological tag was added to gene: SAMHD1.
Genomic newborn screening: BabyScreen+ v0.1712 RDX Zornitza Stark Tag deafness tag was added to gene: RDX.
Genomic newborn screening: BabyScreen+ v0.1712 QDPR Zornitza Stark Tag metabolic tag was added to gene: QDPR.
Genomic newborn screening: BabyScreen+ v0.1712 PTS Zornitza Stark Tag metabolic tag was added to gene: PTS.
Genomic newborn screening: BabyScreen+ v0.1710 PSPH Zornitza Stark Tag for review tag was added to gene: PSPH.
Genomic newborn screening: BabyScreen+ v0.1710 PKLR Zornitza Stark Tag treatable tag was added to gene: PKLR.
Tag metabolic tag was added to gene: PKLR.
Genomic newborn screening: BabyScreen+ v0.1710 PHKG2 Zornitza Stark Tag metabolic tag was added to gene: PHKG2.
Genomic newborn screening: BabyScreen+ v0.1710 PHKB Zornitza Stark Tag treatable tag was added to gene: PHKB.
Tag metabolic tag was added to gene: PHKB.
Genomic newborn screening: BabyScreen+ v0.1710 PHKA2 Zornitza Stark Tag treatable tag was added to gene: PHKA2.
Tag metabolic tag was added to gene: PHKA2.
Genomic newborn screening: BabyScreen+ v0.1710 PHGDH Zornitza Stark Tag metabolic tag was added to gene: PHGDH.
Genomic newborn screening: BabyScreen+ v0.1710 PGM1 Zornitza Stark Tag metabolic tag was added to gene: PGM1.
Genomic newborn screening: BabyScreen+ v0.1710 PDZD7 Zornitza Stark Tag deafness tag was added to gene: PDZD7.
Genomic newborn screening: BabyScreen+ v0.1710 PDX1 Zornitza Stark Tag treatable tag was added to gene: PDX1.
Tag endocrine tag was added to gene: PDX1.
Genomic newborn screening: BabyScreen+ v0.1710 PDHX Zornitza Stark Tag treatable tag was added to gene: PDHX.
Tag metabolic tag was added to gene: PDHX.
Genomic newborn screening: BabyScreen+ v0.1710 PDHA1 Zornitza Stark Tag treatable tag was added to gene: PDHA1.
Tag metabolic tag was added to gene: PDHA1.
Genomic newborn screening: BabyScreen+ v0.1710 PCDH15 Zornitza Stark Tag deafness tag was added to gene: PCDH15.
Genomic newborn screening: BabyScreen+ v0.1710 PCCB Zornitza Stark Tag metabolic tag was added to gene: PCCB.
Genomic newborn screening: BabyScreen+ v0.1710 PCCA Zornitza Stark Tag metabolic tag was added to gene: PCCA.
Genomic newborn screening: BabyScreen+ v0.1710 PCBD1 Zornitza Stark Tag treatable tag was added to gene: PCBD1.
Tag metabolic tag was added to gene: PCBD1.
Genomic newborn screening: BabyScreen+ v0.1710 PC Zornitza Stark Tag treatable tag was added to gene: PC.
Tag metabolic tag was added to gene: PC.
Genomic newborn screening: BabyScreen+ v0.1710 PAX8 Zornitza Stark Tag treatable tag was added to gene: PAX8.
Tag endocrine tag was added to gene: PAX8.
Genomic newborn screening: BabyScreen+ v0.1710 PAX3 Zornitza Stark Tag deafness tag was added to gene: PAX3.
Genomic newborn screening: BabyScreen+ v0.1710 PALB2 Zornitza Stark Tag treatable tag was added to gene: PALB2.
Tag haematological tag was added to gene: PALB2.
Genomic newborn screening: BabyScreen+ v0.1710 PAH Zornitza Stark Tag metabolic tag was added to gene: PAH.
Genomic newborn screening: BabyScreen+ v0.1710 OXCT1 Zornitza Stark Tag metabolic tag was added to gene: OXCT1.
Genomic newborn screening: BabyScreen+ v0.1710 OTOGL Zornitza Stark Tag deafness tag was added to gene: OTOGL.
Genomic newborn screening: BabyScreen+ v0.1710 OTOF Zornitza Stark Tag deafness tag was added to gene: OTOF.
Genomic newborn screening: BabyScreen+ v0.1710 OTOA Zornitza Stark Tag deafness tag was added to gene: OTOA.
Genomic newborn screening: BabyScreen+ v0.1710 OTC Zornitza Stark Tag metabolic tag was added to gene: OTC.
Genomic newborn screening: BabyScreen+ v0.1710 NR5A1 Zornitza Stark Tag endocrine tag was added to gene: NR5A1.
Genomic newborn screening: BabyScreen+ v0.1710 NR3C2 Zornitza Stark Tag treatable tag was added to gene: NR3C2.
Tag endocrine tag was added to gene: NR3C2.
Genomic newborn screening: BabyScreen+ v0.1710 NR0B1 Zornitza Stark Tag endocrine tag was added to gene: NR0B1.
Genomic newborn screening: BabyScreen+ v0.1710 NPC2 Zornitza Stark Tag treatable tag was added to gene: NPC2.
Tag metabolic tag was added to gene: NPC2.
Genomic newborn screening: BabyScreen+ v0.1710 NPC1 Zornitza Stark Tag treatable tag was added to gene: NPC1.
Tag metabolic tag was added to gene: NPC1.
Genomic newborn screening: BabyScreen+ v0.1710 NNT Zornitza Stark Tag endocrine tag was added to gene: NNT.
Genomic newborn screening: BabyScreen+ v0.1710 NKX2-1 Zornitza Stark Tag treatable tag was added to gene: NKX2-1.
Tag endocrine tag was added to gene: NKX2-1.
Genomic newborn screening: BabyScreen+ v0.1710 NIPAL4 Zornitza Stark Tag for review tag was added to gene: NIPAL4.
Genomic newborn screening: BabyScreen+ v0.1710 NHEJ1 Zornitza Stark Tag immunological tag was added to gene: NHEJ1.
Genomic newborn screening: BabyScreen+ v0.1710 NF1 Zornitza Stark Tag for review tag was added to gene: NF1.
Genomic newborn screening: BabyScreen+ v0.1710 NEUROG3 Zornitza Stark Tag gastrointestinal tag was added to gene: NEUROG3.
Genomic newborn screening: BabyScreen+ v0.1710 NCF2 Zornitza Stark Tag immunological tag was added to gene: NCF2.
Genomic newborn screening: BabyScreen+ v0.1710 NCF1 Zornitza Stark Tag immunological tag was added to gene: NCF1.
Genomic newborn screening: BabyScreen+ v0.1710 NAGS Zornitza Stark Tag metabolic tag was added to gene: NAGS.
Genomic newborn screening: BabyScreen+ v0.1710 NAGLU Zornitza Stark Tag metabolic tag was added to gene: NAGLU.
Genomic newborn screening: BabyScreen+ v0.1710 MYSM1 Zornitza Stark Tag haematological tag was added to gene: MYSM1.
Genomic newborn screening: BabyScreen+ v0.1710 MYO7A Zornitza Stark Tag deafness tag was added to gene: MYO7A.
Genomic newborn screening: BabyScreen+ v0.1710 MYO6 Zornitza Stark Tag deafness tag was added to gene: MYO6.
Genomic newborn screening: BabyScreen+ v0.1710 MYO15A Zornitza Stark Tag deafness tag was added to gene: MYO15A.
Genomic newborn screening: BabyScreen+ v0.1710 MVK Zornitza Stark Tag metabolic tag was added to gene: MVK.
Genomic newborn screening: BabyScreen+ v0.1710 MUT Zornitza Stark Tag metabolic tag was added to gene: MUT.
Genomic newborn screening: BabyScreen+ v0.1710 MUSK Zornitza Stark Tag neurological tag was added to gene: MUSK.
Genomic newborn screening: BabyScreen+ v0.1710 MTTP Zornitza Stark Tag metabolic tag was added to gene: MTTP.
Genomic newborn screening: BabyScreen+ v0.1710 MTRR Zornitza Stark Tag treatable tag was added to gene: MTRR.
Tag metabolic tag was added to gene: MTRR.
Genomic newborn screening: BabyScreen+ v0.1710 MTR Zornitza Stark Tag treatable tag was added to gene: MTR.
Tag haematological tag was added to gene: MTR.
Genomic newborn screening: BabyScreen+ v0.1710 MRAP Zornitza Stark Tag endocrine tag was added to gene: MRAP.
Genomic newborn screening: BabyScreen+ v0.1710 MPL Zornitza Stark Tag haematological tag was added to gene: MPL.
Genomic newborn screening: BabyScreen+ v0.1710 MPI Zornitza Stark Tag metabolic tag was added to gene: MPI.
Genomic newborn screening: BabyScreen+ v0.1710 MOCS1 Zornitza Stark Tag metabolic tag was added to gene: MOCS1.
Genomic newborn screening: BabyScreen+ v0.1710 MMADHC Zornitza Stark Tag metabolic tag was added to gene: MMADHC.
Genomic newborn screening: BabyScreen+ v0.1710 MMACHC Zornitza Stark Tag metabolic tag was added to gene: MMACHC.
Genomic newborn screening: BabyScreen+ v0.1710 MMAB Zornitza Stark Tag metabolic tag was added to gene: MMAB.
Genomic newborn screening: BabyScreen+ v0.1710 MMAA Zornitza Stark Tag metabolic tag was added to gene: MMAA.
Genomic newborn screening: BabyScreen+ v0.1710 MLYCD Zornitza Stark Tag metabolic tag was added to gene: MLYCD.
Genomic newborn screening: BabyScreen+ v0.1710 MITF Zornitza Stark Tag deafness tag was added to gene: MITF.
Genomic newborn screening: BabyScreen+ v0.1710 MEFV Zornitza Stark Tag haematological tag was added to gene: MEFV.
Genomic newborn screening: BabyScreen+ v0.1710 MCFD2 Zornitza Stark Tag haematological tag was added to gene: MCFD2.
Genomic newborn screening: BabyScreen+ v0.1710 MC2R Zornitza Stark Tag endocrine tag was added to gene: MC2R.
Genomic newborn screening: BabyScreen+ v0.1710 MARVELD2 Zornitza Stark Tag deafness tag was added to gene: MARVELD2.
Genomic newborn screening: BabyScreen+ v0.1710 MAN2B1 Zornitza Stark Tag metabolic tag was added to gene: MAN2B1.
Genomic newborn screening: BabyScreen+ v0.1710 LYST Zornitza Stark Tag immunological tag was added to gene: LYST.
Genomic newborn screening: BabyScreen+ v0.1710 LRTOMT Zornitza Stark Tag deafness tag was added to gene: LRTOMT.
Genomic newborn screening: BabyScreen+ v0.1710 LRP5 Zornitza Stark Tag treatable tag was added to gene: LRP5.
Tag skeletal tag was added to gene: LRP5.
Genomic newborn screening: BabyScreen+ v0.1710 LOXHD1 Zornitza Stark Tag deafness tag was added to gene: LOXHD1.
Genomic newborn screening: BabyScreen+ v0.1710 LMBRD1 Zornitza Stark Tag metabolic tag was added to gene: LMBRD1.
Genomic newborn screening: BabyScreen+ v0.1710 LIPA Zornitza Stark Tag metabolic tag was added to gene: LIPA.
Genomic newborn screening: BabyScreen+ v0.1710 LIG4 Zornitza Stark Tag treatable tag was added to gene: LIG4.
Tag immunological tag was added to gene: LIG4.
Genomic newborn screening: BabyScreen+ v0.1710 LHX4 Zornitza Stark Tag endocrine tag was added to gene: LHX4.
Genomic newborn screening: BabyScreen+ v0.1710 LHX3 Zornitza Stark Tag endocrine tag was added to gene: LHX3.
Genomic newborn screening: BabyScreen+ v0.1710 LHFPL5 Zornitza Stark Tag deafness tag was added to gene: LHFPL5.
Genomic newborn screening: BabyScreen+ v0.1710 LEPR Zornitza Stark Tag endocrine tag was added to gene: LEPR.
Genomic newborn screening: BabyScreen+ v0.1710 LDLR Zornitza Stark Tag for review was removed from gene: LDLR.
Tag treatable tag was added to gene: LDLR.
Tag metabolic tag was added to gene: LDLR.
Genomic newborn screening: BabyScreen+ v0.1707 KCNJ11 Zornitza Stark Mode of inheritance for gene: KCNJ11 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1706 KCNJ11 Zornitza Stark Tag treatable tag was added to gene: KCNJ11.
Tag endocrine tag was added to gene: KCNJ11.
Genomic newborn screening: BabyScreen+ v0.1706 KCNJ1 Zornitza Stark Tag treatable tag was added to gene: KCNJ1.
Tag renal tag was added to gene: KCNJ1.
Genomic newborn screening: BabyScreen+ v0.1706 IVD Zornitza Stark Tag metabolic tag was added to gene: IVD.
Genomic newborn screening: BabyScreen+ v0.1706 ILDR1 Zornitza Stark Tag deafness tag was added to gene: ILDR1.
Genomic newborn screening: BabyScreen+ v0.1706 HMGCL Zornitza Stark Tag metabolic tag was added to gene: HMGCL.
Genomic newborn screening: BabyScreen+ v0.1706 HLCS Zornitza Stark Tag metabolic tag was added to gene: HLCS.
Genomic newborn screening: BabyScreen+ v0.1706 HK1 Zornitza Stark Tag treatable tag was added to gene: HK1.
Tag endocrine tag was added to gene: HK1.
Genomic newborn screening: BabyScreen+ v0.1706 HGF Zornitza Stark Tag deafness tag was added to gene: HGF.
Genomic newborn screening: BabyScreen+ v0.1706 HADHB Zornitza Stark Tag metabolic tag was added to gene: HADHB.
Genomic newborn screening: BabyScreen+ v0.1706 HADHA Zornitza Stark Tag metabolic tag was added to gene: HADHA.
Genomic newborn screening: BabyScreen+ v0.1706 GRXCR1 Zornitza Stark Tag deafness tag was added to gene: GRXCR1.
Genomic newborn screening: BabyScreen+ v0.1703 GNAS Zornitza Stark Mode of inheritance for gene: GNAS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Genomic newborn screening: BabyScreen+ v0.1702 GNAS Zornitza Stark Tag treatable tag was added to gene: GNAS.
Tag endocrine tag was added to gene: GNAS.
Genomic newborn screening: BabyScreen+ v0.1701 GLRA1 Zornitza Stark Tag treatable tag was added to gene: GLRA1.
Tag neurological tag was added to gene: GLRA1.
Genomic newborn screening: BabyScreen+ v0.1701 GLA Zornitza Stark Tag for review tag was added to gene: GLA.
Genomic newborn screening: BabyScreen+ v0.1701 GLA Zornitza Stark changed review comment from: For review: screen only for males or include both?; to: Assessed as 'moderate actionability' in paediatric patients by ClinGen.

In classic FD, the first symptoms, including chronic neuropathic pain and episodic severe pain crises, emerge during childhood (typically age 3-10 years). Heterozygous females typically have a later median age of onset than males (9-13 years versus 13-23 years). Rarely, females may be relatively asymptomatic and have a normal life span or may have symptoms as severe as males with the classic phenotype.

Cardiac and/or cerebrovascular disease is present in most males by middle age while ESRD usually develops during the third to fifth decade. Renal and cardiac failure represent major sources of morbidity, and account for the reduced lifespan among affected males (50-58 years) and females (70-75 years) compared to the normal population.

A systematic review of RCTs of ERT reported on nine studies of 351 FD patients; however, many of these studies reported only on the effect of ERT on levels of enzyme substrate. Data from 2 trials (n=39 males) found no statistically significant differences in plasma enzyme substrate and one trial (n=24 males) found no statistical differences in renal function between individuals treated with agalsidase alfa and placebo (up to 6-month follow-up). Similar results were seen for agalsidase beta. One trial of 26 male patients found a statistically significant difference in pain, favoring agalsidase alfa compared to placebo at 5-6 months after treatment. No trial reported on the effect of agalsidase alfa on mortality or cardiac/cerebrovascular disease. One trial of agalsidase beta (n=82 males and females) found no difference in mortality, renal function, or symptoms or complications of cardiac or cerebrovascular disease over 18 months. The long-term influence of ERT on risk of morbidity and mortality related to FD remains to be established.

Migalastat, an oral chaperone drug, is recommended as an option for treatment for some patients with FD who are over 16 years with an amenable genetic variant who would usually be offered ERT. For non-amenable genotypes, migalastat may result in a net loss of alpha-Gal A activity, potentially worsening the disease condition.

A systematic review evaluated 2 phase III RCTs that both included males and females. One RCT randomized patients to switch from ERT to migalastat (n = 36) or continue with ERT (n = 24) during an 18-month period with a 12-month extension in which all patients received migalastat. During the treatment period, the percentage of patients who had a renal, cardiac, or cerebrovascular event or died was 29% of patients on migalastat compared to 44% of patients on ERT. However, this difference was not statistically significant. A second RCT compared migalastat (n=34) with placebo (n=33) over a 6-month period, with an 18-month extension study. The primary outcome was change from baseline in interstitial capillary inclusions of the enzyme substrate globotriaosylceramide (GL-3), which was not significantly different between groups. Results from both trials indicate that migalastat does not have a significant beneficial effect on pain, health-related quality of life outcomes, or glomerular filtration rate (results were uncertain due to large confidence intervals, small sample sizes, and/or short follow-up time). Migalastat did not influence left ventricular ejection fraction but did improve left ventricular mass over 18 months.

There are a number of recommendations for surveillance and agents to avoid (amiodarone). There is no consensus as to when ERT should be started.
Genomic newborn screening: BabyScreen+ v0.1700 GJB2 Zornitza Stark Mode of inheritance for gene: GJB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1699 GJB2 Zornitza Stark Tag deafness tag was added to gene: GJB2.
Genomic newborn screening: BabyScreen+ v0.1699 GIPC3 Zornitza Stark Tag deafness tag was added to gene: GIPC3.
Genomic newborn screening: BabyScreen+ v0.1699 GCM2 Zornitza Stark Tag treatable tag was added to gene: GCM2.
Tag endocrine tag was added to gene: GCM2.
Genomic newborn screening: BabyScreen+ v0.1699 GCK Zornitza Stark Tag treatable tag was added to gene: GCK.
Tag endocrine tag was added to gene: GCK.
Genomic newborn screening: BabyScreen+ v0.1699 GCDH Zornitza Stark Tag metabolic tag was added to gene: GCDH.
Genomic newborn screening: BabyScreen+ v0.1699 GBA Zornitza Stark Tag metabolic tag was added to gene: GBA.
Genomic newborn screening: BabyScreen+ v0.1698 GATA4 Zornitza Stark Tag treatable tag was added to gene: GATA4.
Tag endocrine tag was added to gene: GATA4.
Genomic newborn screening: BabyScreen+ v0.1698 GATA3 Zornitza Stark Tag endocrine tag was added to gene: GATA3.
Tag deafness tag was added to gene: GATA3.
Genomic newborn screening: BabyScreen+ v0.1698 GATA2 Zornitza Stark Tag haematological tag was added to gene: GATA2.
Tag deafness tag was added to gene: GATA2.
Genomic newborn screening: BabyScreen+ v0.1698 GAMT Zornitza Stark Tag metabolic tag was added to gene: GAMT.
Genomic newborn screening: BabyScreen+ v0.1698 GALT Zornitza Stark Tag metabolic tag was added to gene: GALT.
Genomic newborn screening: BabyScreen+ v0.1698 GALNS Zornitza Stark Tag metabolic tag was added to gene: GALNS.
Genomic newborn screening: BabyScreen+ v0.1698 GALK1 Zornitza Stark Tag metabolic tag was added to gene: GALK1.
Genomic newborn screening: BabyScreen+ v0.1698 GALE Zornitza Stark Tag metabolic tag was added to gene: GALE.
Genomic newborn screening: BabyScreen+ v0.1698 GALC Zornitza Stark Tag metabolic tag was added to gene: GALC.
Genomic newborn screening: BabyScreen+ v0.1698 GAA Zornitza Stark Tag metabolic tag was added to gene: GAA.
Genomic newborn screening: BabyScreen+ v0.1698 G6PD Zornitza Stark Tag treatable tag was added to gene: G6PD.
Tag haematological tag was added to gene: G6PD.
Genomic newborn screening: BabyScreen+ v0.1698 G6PC3 Zornitza Stark Tag immunological tag was added to gene: G6PC3.
Genomic newborn screening: BabyScreen+ v0.1698 G6PC Zornitza Stark Tag metabolic tag was added to gene: G6PC.
Genomic newborn screening: BabyScreen+ v0.1698 FUCA1 Zornitza Stark Tag metabolic tag was added to gene: FUCA1.
Genomic newborn screening: BabyScreen+ v0.1698 FOXP3 Zornitza Stark Tag immunological tag was added to gene: FOXP3.
Genomic newborn screening: BabyScreen+ v0.1698 FOXA2 Zornitza Stark Tag treatable tag was added to gene: FOXA2.
Tag endocrine tag was added to gene: FOXA2.
Genomic newborn screening: BabyScreen+ v0.1698 FLAD1 Zornitza Stark Tag metabolic tag was added to gene: FLAD1.
Genomic newborn screening: BabyScreen+ v0.1698 FH Zornitza Stark Tag metabolic tag was added to gene: FH.
Genomic newborn screening: BabyScreen+ v0.1698 FGG Zornitza Stark Tag haematological tag was added to gene: FGG.
Genomic newborn screening: BabyScreen+ v0.1698 FGFR3 Zornitza Stark Tag skeletal tag was added to gene: FGFR3.
Genomic newborn screening: BabyScreen+ v0.1698 FGF3 Zornitza Stark Tag deafness tag was added to gene: FGF3.
Genomic newborn screening: BabyScreen+ v0.1698 FGB Zornitza Stark Tag treatable tag was added to gene: FGB.
Tag haematological tag was added to gene: FGB.
Genomic newborn screening: BabyScreen+ v0.1698 FGA Zornitza Stark Tag treatable tag was added to gene: FGA.
Tag haematological tag was added to gene: FGA.
Genomic newborn screening: BabyScreen+ v0.1698 FERMT3 Zornitza Stark Tag immunological tag was added to gene: FERMT3.
Genomic newborn screening: BabyScreen+ v0.1698 FBP1 Zornitza Stark Tag treatable tag was added to gene: FBP1.
Tag metabolic tag was added to gene: FBP1.
Genomic newborn screening: BabyScreen+ v0.1698 FANCI Zornitza Stark Tag haematological tag was added to gene: FANCI.
Genomic newborn screening: BabyScreen+ v0.1698 FANCG Zornitza Stark Tag haematological tag was added to gene: FANCG.
Genomic newborn screening: BabyScreen+ v0.1698 FANCD2 Zornitza Stark Tag treatable tag was added to gene: FANCD2.
Tag haematological tag was added to gene: FANCD2.
Genomic newborn screening: BabyScreen+ v0.1698 FANCC Zornitza Stark Tag treatable tag was added to gene: FANCC.
Tag haematological tag was added to gene: FANCC.
Genomic newborn screening: BabyScreen+ v0.1698 FANCB Zornitza Stark Tag haematological tag was added to gene: FANCB.
Genomic newborn screening: BabyScreen+ v0.1698 FANCA Zornitza Stark Tag treatable tag was added to gene: FANCA.
Tag haematological tag was added to gene: FANCA.
Genomic newborn screening: BabyScreen+ v0.1698 FAH Zornitza Stark Tag metabolic tag was added to gene: FAH.
Genomic newborn screening: BabyScreen+ v0.1698 F9 Zornitza Stark Tag treatable tag was added to gene: F9.
Tag haematological tag was added to gene: F9.
Genomic newborn screening: BabyScreen+ v0.1698 F8 Zornitza Stark Tag for review tag was added to gene: F8.
Tag treatable tag was added to gene: F8.
Tag haematological tag was added to gene: F8.
Genomic newborn screening: BabyScreen+ v0.1698 F7 Zornitza Stark Tag for review tag was added to gene: F7.
Tag treatable tag was added to gene: F7.
Tag haematological tag was added to gene: F7.
Genomic newborn screening: BabyScreen+ v0.1697 FGF23 Zornitza Stark Tag treatable tag was added to gene: FGF23.
Tag endocrine tag was added to gene: FGF23.
Genomic newborn screening: BabyScreen+ v0.1697 FGF23 Zornitza Stark gene: FGF23 was added
gene: FGF23 was added to gNBS. Sources: Expert list
Mode of inheritance for gene: FGF23 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: FGF23 were set to autosomal dominant hypophosphatemic rickets MONDO:0008660; familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0100251
Review for gene: FGF23 was set to GREEN
Added comment: Mono-allelic GoF variants are associated with hypophosphataemic rickets.

Onset in some is in infancy (others adolescence).

Treatment: phosphate supplementation and calcitriol

Non-genetic confirmatory testing: serum phosphate, calcium, PTH, alkaline phosphatase levels, urine calcium level

Bi-allelic LoF variants are associated with tumoral calcinosis.

Age of onset and severity are variable, but include early childhood.

Treatment: dietary restriction, antacids, phosphate binders, acetazolamide, hemodialysis

Non-genetic confirmatory testing: serum phosphate, calcium, PTH, alkaline phosphatase, vitamin D serum levels, urine calcium, phosphate levels, plasma levels of the C-terminal portion of the phosphate-regulating hormone, fibroblast growth factor 23
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1693 F2 Zornitza Stark Mode of inheritance for gene: F2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1691 F13A1 Zornitza Stark Tag treatable tag was added to gene: F13A1.
Tag haematological tag was added to gene: F13A1.
Genomic newborn screening: BabyScreen+ v0.1690 F11 Zornitza Stark Mode of inheritance for gene: F11 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1688 ETHE1 Zornitza Stark Tag metabolic tag was added to gene: ETHE1.
Genomic newborn screening: BabyScreen+ v0.1688 ETFDH Zornitza Stark Tag metabolic tag was added to gene: ETFDH.
Genomic newborn screening: BabyScreen+ v0.1688 ETFB Zornitza Stark Tag treatable tag was added to gene: ETFB.
Tag metabolic tag was added to gene: ETFB.
Genomic newborn screening: BabyScreen+ v0.1688 ETFA Zornitza Stark Tag metabolic tag was added to gene: ETFA.
Genomic newborn screening: BabyScreen+ v0.1688 ESRRB Zornitza Stark Tag deafness tag was added to gene: ESRRB.
Genomic newborn screening: BabyScreen+ v0.1688 ESPN Zornitza Stark Tag deafness tag was added to gene: ESPN.
Genomic newborn screening: BabyScreen+ v0.1688 EPS8 Zornitza Stark Tag deafness tag was added to gene: EPS8.
Genomic newborn screening: BabyScreen+ v0.1688 ENPP1 Zornitza Stark Tag endocrine tag was added to gene: ENPP1.
Tag vascular tag was added to gene: ENPP1.
Genomic newborn screening: BabyScreen+ v0.1688 ENG Zornitza Stark Tag treatable tag was added to gene: ENG.
Tag vascular tag was added to gene: ENG.
Genomic newborn screening: BabyScreen+ v0.1688 ELANE Zornitza Stark Tag treatable tag was added to gene: ELANE.
Tag immunological tag was added to gene: ELANE.
Genomic newborn screening: BabyScreen+ v0.1688 EIF2AK3 Zornitza Stark Tag treatable tag was added to gene: EIF2AK3.
Tag endocrine tag was added to gene: EIF2AK3.
Genomic newborn screening: BabyScreen+ v0.1688 EFL1 Zornitza Stark Tag gastrointestinal tag was added to gene: EFL1.
Genomic newborn screening: BabyScreen+ v0.1688 EDNRB Zornitza Stark Tag deafness tag was added to gene: EDNRB.
Genomic newborn screening: BabyScreen+ v0.1688 EDN3 Zornitza Stark Tag deafness tag was added to gene: EDN3.
Genomic newborn screening: BabyScreen+ v0.1688 DUOXA2 Zornitza Stark Tag endocrine tag was added to gene: DUOXA2.
Genomic newborn screening: BabyScreen+ v0.1688 DUOX2 Zornitza Stark Tag endocrine tag was added to gene: DUOX2.
Genomic newborn screening: BabyScreen+ v0.1688 DPAGT1 Zornitza Stark Tag treatable tag was added to gene: DPAGT1.
Tag neurological tag was added to gene: DPAGT1.
Genomic newborn screening: BabyScreen+ v0.1688 DOK7 Zornitza Stark Tag neurological tag was added to gene: DOK7.
Genomic newborn screening: BabyScreen+ v0.1688 DOCK8 Zornitza Stark Tag immunological tag was added to gene: DOCK8.
Genomic newborn screening: BabyScreen+ v0.1688 DNMT3B Zornitza Stark Tag immunological tag was added to gene: DNMT3B.
Genomic newborn screening: BabyScreen+ v0.1687 DMP1 Zornitza Stark Tag treatable tag was added to gene: DMP1.
Tag skeletal tag was added to gene: DMP1.
Genomic newborn screening: BabyScreen+ v0.1687 DHCR7 Zornitza Stark Tag metabolic tag was added to gene: DHCR7.
Genomic newborn screening: BabyScreen+ v0.1687 DGAT1 Zornitza Stark Tag gastrointestinal tag was added to gene: DGAT1.
Genomic newborn screening: BabyScreen+ v0.1687 DFNB59 Zornitza Stark Tag deafness tag was added to gene: DFNB59.
Genomic newborn screening: BabyScreen+ v0.1687 DDC Zornitza Stark Tag metabolic tag was added to gene: DDC.
Genomic newborn screening: BabyScreen+ v0.1687 DCLRE1C Zornitza Stark Tag immunological tag was added to gene: DCLRE1C.
Genomic newborn screening: BabyScreen+ v0.1687 DBT Zornitza Stark Tag metabolic tag was added to gene: DBT.
Genomic newborn screening: BabyScreen+ v0.1687 CYP27B1 Zornitza Stark Tag endocrine tag was added to gene: CYP27B1.
Genomic newborn screening: BabyScreen+ v0.1687 CYP17A1 Zornitza Stark Tag endocrine tag was added to gene: CYP17A1.
Genomic newborn screening: BabyScreen+ v0.1687 CYP11B2 Zornitza Stark Tag endocrine tag was added to gene: CYP11B2.
Genomic newborn screening: BabyScreen+ v0.1687 CYP11B1 Zornitza Stark Tag endocrine tag was added to gene: CYP11B1.
Genomic newborn screening: BabyScreen+ v0.1687 CYP11A1 Zornitza Stark Tag endocrine tag was added to gene: CYP11A1.
Genomic newborn screening: BabyScreen+ v0.1687 CYBB Zornitza Stark Tag immunological tag was added to gene: CYBB.
Genomic newborn screening: BabyScreen+ v0.1687 CYBA Zornitza Stark Tag immunological tag was added to gene: CYBA.
Genomic newborn screening: BabyScreen+ v0.1687 CXCR4 Zornitza Stark Tag immunological tag was added to gene: CXCR4.
Genomic newborn screening: BabyScreen+ v0.1687 CUBN Zornitza Stark Tag haematological tag was added to gene: CUBN.
Genomic newborn screening: BabyScreen+ v0.1687 CTPS1 Zornitza Stark Tag immunological tag was added to gene: CTPS1.
Genomic newborn screening: BabyScreen+ v0.1687 CTNS Zornitza Stark Tag renal tag was added to gene: CTNS.
Genomic newborn screening: BabyScreen+ v0.1687 CSF3R Zornitza Stark Tag immunological tag was added to gene: CSF3R.
Genomic newborn screening: BabyScreen+ v0.1687 CRTAP Zornitza Stark Tag treatable tag was added to gene: CRTAP.
Tag skeletal tag was added to gene: CRTAP.
Genomic newborn screening: BabyScreen+ v0.1687 CPT2 Zornitza Stark Tag metabolic tag was added to gene: CPT2.
Genomic newborn screening: BabyScreen+ v0.1687 CPT1A Zornitza Stark Tag metabolic tag was added to gene: CPT1A.
Genomic newborn screening: BabyScreen+ v0.1687 CPS1 Zornitza Stark Tag metabolic tag was added to gene: CPS1.
Genomic newborn screening: BabyScreen+ v0.1687 COQ8A Zornitza Stark Tag metabolic tag was added to gene: COQ8A.
Genomic newborn screening: BabyScreen+ v0.1687 COQ4 Zornitza Stark Tag metabolic tag was added to gene: COQ4.
Genomic newborn screening: BabyScreen+ v0.1687 COLQ Zornitza Stark Tag neurological tag was added to gene: COLQ.
Genomic newborn screening: BabyScreen+ v0.1686 CASR Zornitza Stark Mode of inheritance for gene: CASR was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1685 CASR Zornitza Stark Mode of inheritance for gene: CASR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1683 COL4A3 Zornitza Stark Mode of inheritance for gene: COL4A3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1682 COL4A3 Zornitza Stark Tag treatable tag was added to gene: COL4A3.
Tag renal tag was added to gene: COL4A3.
Genomic newborn screening: BabyScreen+ v0.1681 COL4A4 Zornitza Stark Tag treatable tag was added to gene: COL4A4.
Tag renal tag was added to gene: COL4A4.
Genomic newborn screening: BabyScreen+ v0.1681 COL4A5 Zornitza Stark Tag renal tag was added to gene: COL4A5.
Genomic newborn screening: BabyScreen+ v0.1679 COL3A1 Zornitza Stark Tag for review tag was added to gene: COL3A1.
Tag cardiac tag was added to gene: COL3A1.
Genomic newborn screening: BabyScreen+ v0.1679 COL2A1 Zornitza Stark Tag for review was removed from gene: COL2A1.
Tag treatable tag was added to gene: COL2A1.
Tag ophthalmological tag was added to gene: COL2A1.
Genomic newborn screening: BabyScreen+ v0.1679 COL1A2 Zornitza Stark Tag treatable tag was added to gene: COL1A2.
Tag skeletal tag was added to gene: COL1A2.
Genomic newborn screening: BabyScreen+ v0.1679 COL1A1 Zornitza Stark Tag skeletal tag was added to gene: COL1A1.
Genomic newborn screening: BabyScreen+ v0.1679 COL13A1 Zornitza Stark Tag neurological tag was added to gene: COL13A1.
Genomic newborn screening: BabyScreen+ v0.1679 COL11A2 Zornitza Stark Tag deafness tag was added to gene: COL11A2.
Genomic newborn screening: BabyScreen+ v0.1679 COL11A1 Zornitza Stark Tag treatable tag was added to gene: COL11A1.
Genomic newborn screening: BabyScreen+ v0.1679 COCH Zornitza Stark Tag deafness tag was added to gene: COCH.
Genomic newborn screening: BabyScreen+ v0.1679 CLPP Zornitza Stark Tag treatable tag was added to gene: CLPP.
Tag metabolic tag was added to gene: CLPP.
Genomic newborn screening: BabyScreen+ v0.1679 CLDN14 Zornitza Stark Tag deafness tag was added to gene: CLDN14.
Genomic newborn screening: BabyScreen+ v0.1679 CLCN7 Zornitza Stark Tag skeletal tag was added to gene: CLCN7.
Genomic newborn screening: BabyScreen+ v0.1679 CIB2 Zornitza Stark Tag deafness tag was added to gene: CIB2.
Genomic newborn screening: BabyScreen+ v0.1679 CHRNE Zornitza Stark Tag treatable tag was added to gene: CHRNE.
Tag neurological tag was added to gene: CHRNE.
Genomic newborn screening: BabyScreen+ v0.1679 CHRND Zornitza Stark Tag treatable tag was added to gene: CHRND.
Tag neurological tag was added to gene: CHRND.
Genomic newborn screening: BabyScreen+ v0.1679 CHRNA1 Zornitza Stark Tag neurological tag was added to gene: CHRNA1.
Genomic newborn screening: BabyScreen+ v0.1679 CHAT Zornitza Stark Tag neurological tag was added to gene: CHAT.
Genomic newborn screening: BabyScreen+ v0.1679 CFTR Zornitza Stark Tag respiratory tag was added to gene: CFTR.
Genomic newborn screening: BabyScreen+ v0.1679 CFP Zornitza Stark Tag treatable tag was added to gene: CFP.
Tag immunological tag was added to gene: CFP.
Genomic newborn screening: BabyScreen+ v0.1678 CDKN1C Zornitza Stark Mode of inheritance for gene: CDKN1C was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Genomic newborn screening: BabyScreen+ v0.1677 CDKN1C Zornitza Stark Tag treatable tag was added to gene: CDKN1C.
Tag endocrine tag was added to gene: CDKN1C.
Genomic newborn screening: BabyScreen+ v0.1677 CDH23 Zornitza Stark Tag deafness tag was added to gene: CDH23.
Genomic newborn screening: BabyScreen+ v0.1677 CDC14A Zornitza Stark Tag deafness tag was added to gene: CDC14A.
Genomic newborn screening: BabyScreen+ v0.1675 CDAN1 Zornitza Stark Tag treatable tag was added to gene: CDAN1.
Tag haematological tag was added to gene: CDAN1.
Genomic newborn screening: BabyScreen+ v0.1675 CD79B Zornitza Stark Tag immunological tag was added to gene: CD79B.
Genomic newborn screening: BabyScreen+ v0.1675 CD79A Zornitza Stark Tag immunological tag was added to gene: CD79A.
Genomic newborn screening: BabyScreen+ v0.1675 CD40LG Zornitza Stark Tag immunological tag was added to gene: CD40LG.
Genomic newborn screening: BabyScreen+ v0.1675 CD3E Zornitza Stark Tag treatable tag was added to gene: CD3E.
Tag immunological tag was added to gene: CD3E.
Genomic newborn screening: BabyScreen+ v0.1675 CD3D Zornitza Stark Tag immunological tag was added to gene: CD3D.
Genomic newborn screening: BabyScreen+ v0.1675 CAVIN1 Zornitza Stark Tag endocrine tag was added to gene: CAVIN1.
Genomic newborn screening: BabyScreen+ v0.1675 CASR Zornitza Stark Tag treatable tag was added to gene: CASR.
Tag endocrine tag was added to gene: CASR.
Genomic newborn screening: BabyScreen+ v0.1675 CARD11 Zornitza Stark Tag treatable tag was added to gene: CARD11.
Tag immunological tag was added to gene: CARD11.
Genomic newborn screening: BabyScreen+ v0.1675 CABP2 Zornitza Stark Tag deafness tag was added to gene: CABP2.
Genomic newborn screening: BabyScreen+ v0.1675 CA5A Zornitza Stark Tag metabolic tag was added to gene: CA5A.
Genomic newborn screening: BabyScreen+ v0.1675 CA2 Zornitza Stark Tag skeletal tag was added to gene: CA2.
Genomic newborn screening: BabyScreen+ v0.1675 C9 Zornitza Stark Tag immunological tag was added to gene: C9.
Genomic newborn screening: BabyScreen+ v0.1675 C8B Zornitza Stark Tag treatable tag was added to gene: C8B.
Tag immunological tag was added to gene: C8B.
Genomic newborn screening: BabyScreen+ v0.1675 C7 Zornitza Stark Tag immunological tag was added to gene: C7.
Genomic newborn screening: BabyScreen+ v0.1675 C6 Zornitza Stark Tag immunological tag was added to gene: C6.
Genomic newborn screening: BabyScreen+ v0.1675 C5 Zornitza Stark Tag immunological tag was added to gene: C5.
Genomic newborn screening: BabyScreen+ v0.1675 BTK Zornitza Stark Tag immunological tag was added to gene: BTK.
Genomic newborn screening: BabyScreen+ v0.1675 BTD Zornitza Stark Tag metabolic tag was added to gene: BTD.
Genomic newborn screening: BabyScreen+ v0.1675 BSND Zornitza Stark Tag renal tag was added to gene: BSND.
Genomic newborn screening: BabyScreen+ v0.1675 BSCL2 Zornitza Stark Tag endocrine tag was added to gene: BSCL2.
Genomic newborn screening: BabyScreen+ v0.1675 BRIP1 Zornitza Stark Tag haematological tag was added to gene: BRIP1.
Genomic newborn screening: BabyScreen+ v0.1675 BLNK Zornitza Stark Tag immunological tag was added to gene: BLNK.
Genomic newborn screening: BabyScreen+ v0.1675 BCKDK Zornitza Stark Tag metabolic tag was added to gene: BCKDK.
Genomic newborn screening: BabyScreen+ v0.1675 BCKDHB Zornitza Stark Tag metabolic tag was added to gene: BCKDHB.
Genomic newborn screening: BabyScreen+ v0.1675 BCKDHA Zornitza Stark Tag metabolic tag was added to gene: BCKDHA.
Genomic newborn screening: BabyScreen+ v0.1674 TFG Zornitza Stark Mode of inheritance for gene: TFG was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1670 TG Zornitza Stark Tag treatable tag was added to gene: TG.
Tag endocrine tag was added to gene: TG.
Genomic newborn screening: BabyScreen+ v0.1665 TGFBR2 Zornitza Stark Tag cardiac tag was added to gene: TGFBR2.
Tag treatable tag was added to gene: TGFBR2.
Genomic newborn screening: BabyScreen+ v0.1664 TGFBR1 Zornitza Stark Tag cardiac tag was added to gene: TGFBR1.
Tag treatable tag was added to gene: TGFBR1.
Genomic newborn screening: BabyScreen+ v0.1663 TH Zornitza Stark Tag treatable tag was added to gene: TH.
Tag endocrine tag was added to gene: TH.
Genomic newborn screening: BabyScreen+ v0.1661 THRA Zornitza Stark Tag treatable tag was added to gene: THRA.
Tag endocrine tag was added to gene: THRA.
Genomic newborn screening: BabyScreen+ v0.1660 THRB Zornitza Stark Mode of inheritance for gene: THRB was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1653 TK2 Zornitza Stark Tag treatable tag was added to gene: TK2.
Tag metabolic tag was added to gene: TK2.
Genomic newborn screening: BabyScreen+ v0.1653 TMC1 Zornitza Stark Tag deafness tag was added to gene: TMC1.
Genomic newborn screening: BabyScreen+ v0.1643 TMIE Zornitza Stark Tag deafness tag was added to gene: TMIE.
Genomic newborn screening: BabyScreen+ v0.1643 TMPRSS3 Zornitza Stark Tag deafness tag was added to gene: TMPRSS3.
Genomic newborn screening: BabyScreen+ v0.1643 TRIOBP Zornitza Stark Tag deafness tag was added to gene: TRIOBP.
Genomic newborn screening: BabyScreen+ v0.1643 TRMU Zornitza Stark Tag liver tag was added to gene: TRMU.
Genomic newborn screening: BabyScreen+ v0.1643 TSHB Zornitza Stark Tag endocrine tag was added to gene: TSHB.
Genomic newborn screening: BabyScreen+ v0.1643 TTPA Zornitza Stark Tag neurological tag was added to gene: TTPA.
Genomic newborn screening: BabyScreen+ v0.1643 UBE2T Zornitza Stark Tag haematological tag was added to gene: UBE2T.
Genomic newborn screening: BabyScreen+ v0.1643 UGT1A1 Zornitza Stark Tag liver tag was added to gene: UGT1A1.
Genomic newborn screening: BabyScreen+ v0.1643 UNC13D Zornitza Stark Tag immunological tag was added to gene: UNC13D.
Genomic newborn screening: BabyScreen+ v0.1641 UROS Zornitza Stark Tag treatable tag was added to gene: UROS.
Tag haematological tag was added to gene: UROS.
Genomic newborn screening: BabyScreen+ v0.1639 USH1C Zornitza Stark Tag deafness tag was added to gene: USH1C.
Genomic newborn screening: BabyScreen+ v0.1637 USH1G Zornitza Stark Tag deafness tag was added to gene: USH1G.
Genomic newborn screening: BabyScreen+ v0.1635 USH2A Zornitza Stark Tag deafness tag was added to gene: USH2A.
Genomic newborn screening: BabyScreen+ v0.1632 VDR Zornitza Stark Tag endocrine tag was added to gene: VDR.
Genomic newborn screening: BabyScreen+ v0.1632 VHL Zornitza Stark Tag cancer tag was added to gene: VHL.
Genomic newborn screening: BabyScreen+ v0.1632 VPS45 Zornitza Stark Tag immunological tag was added to gene: VPS45.
Genomic newborn screening: BabyScreen+ v0.1632 WAS Zornitza Stark Tag treatable tag was added to gene: WAS.
Tag haematological tag was added to gene: WAS.
Genomic newborn screening: BabyScreen+ v0.1632 WHRN Zornitza Stark Tag deafness tag was added to gene: WHRN.
Genomic newborn screening: BabyScreen+ v0.1632 XIAP Zornitza Stark Tag immunological tag was added to gene: XIAP.
Genomic newborn screening: BabyScreen+ v0.1632 ZAP70 Zornitza Stark Tag immunological tag was added to gene: ZAP70.
Genomic newborn screening: BabyScreen+ v0.1632 AVPR2 Zornitza Stark Tag endocrine tag was added to gene: AVPR2.
Genomic newborn screening: BabyScreen+ v0.1632 AVP Zornitza Stark Tag endocrine tag was added to gene: AVP.
Genomic newborn screening: BabyScreen+ v0.1632 ATP7B Zornitza Stark Tag treatable tag was added to gene: ATP7B.
Tag metabolic tag was added to gene: ATP7B.
Genomic newborn screening: BabyScreen+ v0.1632 ATP7A Zornitza Stark Tag metabolic tag was added to gene: ATP7A.
Genomic newborn screening: BabyScreen+ v0.1632 ATP6V1B1 Zornitza Stark Tag renal tag was added to gene: ATP6V1B1.
Genomic newborn screening: BabyScreen+ v0.1632 ATP6V0A4 Zornitza Stark Tag renal tag was added to gene: ATP6V0A4.
Genomic newborn screening: BabyScreen+ v0.1632 ASS1 Zornitza Stark Tag metabolic tag was added to gene: ASS1.
Genomic newborn screening: BabyScreen+ v0.1632 ASL Zornitza Stark Tag metabolic tag was added to gene: ASL.
Genomic newborn screening: BabyScreen+ v0.1632 ARSB Zornitza Stark Tag metabolic tag was added to gene: ARSB.
Genomic newborn screening: BabyScreen+ v0.1632 ARSA Zornitza Stark Tag metabolic tag was added to gene: ARSA.
Genomic newborn screening: BabyScreen+ v0.1632 ARPC1B Zornitza Stark Tag immunological tag was added to gene: ARPC1B.
Genomic newborn screening: BabyScreen+ v0.1632 ARG1 Zornitza Stark Tag metabolic tag was added to gene: ARG1.
Genomic newborn screening: BabyScreen+ v0.1632 AQP2 Zornitza Stark Tag endocrine tag was added to gene: AQP2.
Genomic newborn screening: BabyScreen+ v0.1632 AP3B1 Zornitza Stark Tag haematological tag was added to gene: AP3B1.
Genomic newborn screening: BabyScreen+ v0.1632 ACVRL1 Zornitza Stark Tag treatable tag was added to gene: ACVRL1.
Tag vascular tag was added to gene: ACVRL1.
Genomic newborn screening: BabyScreen+ v0.1631 PROS1 Zornitza Stark Mode of inheritance for gene: PROS1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1629 PROP1 Zornitza Stark Tag treatable tag was added to gene: PROP1.
Tag endocrine tag was added to gene: PROP1.
Genomic newborn screening: BabyScreen+ v0.1628 PROKR2 Zornitza Stark Mode of inheritance for gene: PROKR2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1625 PROC Zornitza Stark Mode of inheritance for gene: PROC was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1623 PRKDC Zornitza Stark Tag treatable tag was added to gene: PRKDC.
Tag immunological tag was added to gene: PRKDC.
Genomic newborn screening: BabyScreen+ v0.1621 PRF1 Zornitza Stark Tag treatable tag was added to gene: PRF1.
Tag immunological tag was added to gene: PRF1.
Genomic newborn screening: BabyScreen+ v0.1619 PNPO Zornitza Stark Tag treatable tag was added to gene: PNPO.
Tag metabolic tag was added to gene: PNPO.
Genomic newborn screening: BabyScreen+ v0.1611 POU1F1 Zornitza Stark Mode of inheritance for gene: POU1F1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1610 POU1F1 Zornitza Stark Tag treatable tag was added to gene: POU1F1.
Tag endocrine tag was added to gene: POU1F1.
Genomic newborn screening: BabyScreen+ v0.1609 PORCN Zornitza Stark Mode of inheritance for gene: PORCN was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.1606 POR Zornitza Stark Tag treatable tag was added to gene: POR.
Tag endocrine tag was added to gene: POR.
Genomic newborn screening: BabyScreen+ v0.1598 POLG Zornitza Stark Mode of inheritance for gene: POLG was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1582 PMM2 Zornitza Stark Tag for review tag was added to gene: PMM2.
Tag metabolic tag was added to gene: PMM2.
Genomic newborn screening: BabyScreen+ v0.1581 PLPBP Zornitza Stark Tag treatable tag was added to gene: PLPBP.
Tag metabolic tag was added to gene: PLPBP.
Genomic newborn screening: BabyScreen+ v0.1576 PLG Zornitza Stark Tag treatable tag was added to gene: PLG.
Tag haematological tag was added to gene: PLG.
Genomic newborn screening: BabyScreen+ v0.1575 PLEC Zornitza Stark Mode of inheritance for gene: PLEC was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1564 PKD2 Zornitza Stark Tag for review tag was added to gene: PKD2.
Tag treatable tag was added to gene: PKD2.
Tag renal tag was added to gene: PKD2.
Genomic newborn screening: BabyScreen+ v0.1562 PKD1 Zornitza Stark Tag for review tag was added to gene: PKD1.
Tag treatable tag was added to gene: PKD1.
Tag renal tag was added to gene: PKD1.
Genomic newborn screening: BabyScreen+ v0.1561 PIK3CA Zornitza Stark Tag for review tag was added to gene: PIK3CA.
Genomic newborn screening: BabyScreen+ v0.1561 PIK3CA Zornitza Stark gene: PIK3CA was added
gene: PIK3CA was added to gNBS. Sources: Expert list
Mode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PIK3CA were set to 33392635; 33639990
Phenotypes for gene: PIK3CA were set to PIK3CA related overgrowth spectrum
Review for gene: PIK3CA was set to AMBER
Added comment: Established association with a range of overgrowth phenotypes.

Note variants are SOMATIC and may not be detectable reliably.

Treatment: alpelisib, miransertib. Unsure if these are available.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1559 PINK1 Zornitza Stark Mode of inheritance for gene: PINK1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1556 PIK3R1 Zornitza Stark Tag treatable tag was added to gene: PIK3R1.
Tag immunological tag was added to gene: PIK3R1.
Genomic newborn screening: BabyScreen+ v0.1554 PIK3CD Zornitza Stark Mode of inheritance for gene: PIK3CD was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1553 PIK3CD Zornitza Stark Tag treatable tag was added to gene: PIK3CD.
Tag immunological tag was added to gene: PIK3CD.
Genomic newborn screening: BabyScreen+ v0.1552 PIEZO2 Zornitza Stark Mode of inheritance for gene: PIEZO2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1546 PHEX Zornitza Stark Mode of inheritance for gene: PHEX was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.1545 PHEX Zornitza Stark Tag treatable tag was added to gene: PHEX.
Tag skeletal tag was added to gene: PHEX.
Genomic newborn screening: BabyScreen+ v0.1545 PGM3 Zornitza Stark Tag treatable tag was added to gene: PGM3.
Tag immunological tag was added to gene: PGM3.
Genomic newborn screening: BabyScreen+ v0.1540 TCF3 Seb Lunke Mode of inheritance for gene: TCF3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1536 TBX19 Seb Lunke Tag treatable tag was added to gene: TBX19.
Tag endocrine tag was added to gene: TBX19.
Genomic newborn screening: BabyScreen+ v0.1534 TBX1 Seb Lunke Tag for review tag was added to gene: TBX1.
Tag cardiac tag was added to gene: TBX1.
Tag immunological tag was added to gene: TBX1.
Genomic newborn screening: BabyScreen+ v0.1527 SUOX Seb Lunke Tag for review tag was added to gene: SUOX.
Tag metabolic tag was added to gene: SUOX.
Genomic newborn screening: BabyScreen+ v0.1517 STRC Seb Lunke Tag for review tag was added to gene: STRC.
Genomic newborn screening: BabyScreen+ v0.1510 STK11 Seb Lunke Tag for review tag was added to gene: STK11.
Genomic newborn screening: BabyScreen+ v0.1500 PSAP Zornitza Stark Mode of inheritance for gene: PSAP was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1496 PTCH1 Zornitza Stark Tag for review tag was added to gene: PTCH1.
Tag cancer tag was added to gene: PTCH1.
Genomic newborn screening: BabyScreen+ v0.1494 PTEN Zornitza Stark Tag for review tag was added to gene: PTEN.
Tag cancer tag was added to gene: PTEN.
Genomic newborn screening: BabyScreen+ v0.1494 PTF1A Zornitza Stark Tag treatable tag was added to gene: PTF1A.
Tag gastrointestinal tag was added to gene: PTF1A.
Genomic newborn screening: BabyScreen+ v0.1493 PTH1R Zornitza Stark Mode of inheritance for gene: PTH1R was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1491 PTPRC Zornitza Stark Tag treatable tag was added to gene: PTPRC.
Tag immunological tag was added to gene: PTPRC.
Genomic newborn screening: BabyScreen+ v0.1490 PYGL Zornitza Stark Tag treatable tag was added to gene: PYGL.
Tag metabolic tag was added to gene: PYGL.
Genomic newborn screening: BabyScreen+ v0.1488 SPTB Seb Lunke Tag for review tag was added to gene: SPTB.
Genomic newborn screening: BabyScreen+ v0.1487 SPTA1 Seb Lunke Mode of inheritance for gene: SPTA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1484 PYGM Zornitza Stark Mode of inheritance for gene: PYGM was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1480 RB1 Zornitza Stark Tag for review tag was added to gene: RB1.
Genomic newborn screening: BabyScreen+ v0.1479 RB1 Zornitza Stark Tag cancer tag was added to gene: RB1.
Tag treatable tag was added to gene: RB1.
Genomic newborn screening: BabyScreen+ v0.1478 RAPSN Zornitza Stark Tag treatable tag was added to gene: RAPSN.
Tag neurological tag was added to gene: RAPSN.
Genomic newborn screening: BabyScreen+ v0.1477 RAG1 Zornitza Stark Tag treatable tag was added to gene: RAG1.
Tag immunological tag was added to gene: RAG1.
Genomic newborn screening: BabyScreen+ v0.1476 RAG2 Zornitza Stark Tag treatable tag was added to gene: RAG2.
Tag immunological tag was added to gene: RAG2.
Genomic newborn screening: BabyScreen+ v0.1470 RAB27A Zornitza Stark Tag for review tag was added to gene: RAB27A.
Tag immunological tag was added to gene: RAB27A.
Genomic newborn screening: BabyScreen+ v0.1469 ORAI1 Zornitza Stark Tag treatable tag was added to gene: ORAI1.
Tag immunological tag was added to gene: ORAI1.
Genomic newborn screening: BabyScreen+ v0.1469 ORAI1 Zornitza Stark gene: ORAI1 was added
gene: ORAI1 was added to gNBS. Sources: Expert Review
Mode of inheritance for gene: ORAI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORAI1 were set to Immunodeficiency 9, MIM# 612782
Review for gene: ORAI1 was set to GREEN
Added comment: PMID 31448844 (comprehensive review, summarises all published cases, references functional evidence):
- Dominant ORAI1 missense variants via a GOF mechanism cause a slowly progressive myopathy (tubular aggregate myopathy/TAM)
- Recessive ORAI1 variants via a LOF mechanism cause a combined immunodeficiency (recurrent and chronic infections, autoimmunity, ectodermal dysplasia, non-progressive myopathy)

Included here for AR disease. Onset is in newborn period. Life-threatening.

Treatment: BMT.

Non-genetic confirmatory testing: T cell proliferation assay
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1458 RET Zornitza Stark Tag for review tag was added to gene: RET.
Tag cancer tag was added to gene: RET.
Tag treatable tag was added to gene: RET.
Genomic newborn screening: BabyScreen+ v0.1457 REN Zornitza Stark Mode of inheritance for gene: REN was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1451 CIITA Zornitza Stark Tag treatable tag was added to gene: CIITA.
Tag immunological tag was added to gene: CIITA.
Genomic newborn screening: BabyScreen+ v0.1451 CIITA Zornitza Stark gene: CIITA was added
gene: CIITA was added to gNBS. Sources: Expert Review
Mode of inheritance for gene: CIITA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CIITA were set to Bare Lymphocyte Syndrome, type II, complementation group A MIM# 209920
Review for gene: CIITA was set to GREEN
Added comment: 13 individuals of 11 unrelated families; two mouse models. Homozygous and compound heterozygous variants were identified in these individuals (missense, nonsense and splicing) resulting in premature stop codon and truncated protein, or inactive protein. Affected individuals typically present in infancy with severe (recurrent) respiratory and gastrointestinal tract infections and defective MHC II expression in PBMCs

Treatment: BMT.
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1449 RFXAP Zornitza Stark Tag treatable tag was added to gene: RFXAP.
Tag immunological tag was added to gene: RFXAP.
Genomic newborn screening: BabyScreen+ v0.1449 RFXAP Zornitza Stark gene: RFXAP was added
gene: RFXAP was added to gNBS. Sources: Expert Review
Mode of inheritance for gene: RFXAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RFXAP were set to Bare lymphocyte syndrome, type II, complementation group D MIM# 209920
Review for gene: RFXAP was set to GREEN
Added comment: 9 unique RFXAP variants in 12 unrelated individuals have been reported; one mouse model

The most frequent variant is a deletion c. delG484fsX525 which has been identified in 4 individuals of different origins (North African, Turkish and East Asian).

Typically presents in infancy with recurrent bacterial infections, severe diarrhoea and failure to thrive.

Treatment: BMT.
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1447 RFX5 Zornitza Stark Tag treatable tag was added to gene: RFX5.
Tag immunological tag was added to gene: RFX5.
Genomic newborn screening: BabyScreen+ v0.1447 RFX5 Zornitza Stark gene: RFX5 was added
gene: RFX5 was added to gNBS. Sources: Expert Review
Mode of inheritance for gene: RFX5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RFX5 were set to Bare lymphocyte syndrome, type II, complementation group C MIM# 209920; Bare lymphocyte syndrome, type II, complementation group E MIM# 209920
Review for gene: RFX5 was set to GREEN
Added comment: Bare lymphocyte syndrome, type II, complementation group C

9 individuals from 8 unrelated families; multiple mouse models
Homozygous and Compound heterozygous (Nonsense, missense, splice site, single bp del) variants were reported resulting in truncated protein and loss of function.
All individuals presented with recurrent lower respiratory tract infection early in life, low CD4+ cells and/or failure to thrive, chronic diarrhoea, hepatosplenomegaly and low Ig levels.
----------
Bare lymphocyte syndrome, type II, complementation group E

2 siblings (twins) reported with RPX5 variants and new BLS group E phenotype; multiple functional studies
Identified homozygous missense variant (R149Q) which resulted in altered DNA-binding domain and loss of function.
These histo-identical twin brothers had normal numbers of CD4 + cells and are able to mount both cellular and humoral immune responses. They displayed absence of MHC class II surface expression on B cells and mononuclear cells.

Presentation is typically in infancy.

Treatment: BMT.
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1446 RFXANK Zornitza Stark Tag treatable tag was added to gene: RFXANK.
Tag immunological tag was added to gene: RFXANK.
Genomic newborn screening: BabyScreen+ v0.1445 RMRP Zornitza Stark Tag for review tag was added to gene: RMRP.
Tag treatable tag was added to gene: RMRP.
Tag immunological tag was added to gene: RMRP.
Genomic newborn screening: BabyScreen+ v0.1441 RNASEH2B Zornitza Stark Tag for review tag was added to gene: RNASEH2B.
Tag neurological tag was added to gene: RNASEH2B.
Genomic newborn screening: BabyScreen+ v0.1437 RNASEH2C Zornitza Stark Tag for review tag was added to gene: RNASEH2C.
Tag neurological tag was added to gene: RNASEH2C.
Genomic newborn screening: BabyScreen+ v0.1436 ROR2 Zornitza Stark Mode of inheritance for gene: ROR2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1430 RPL11 Zornitza Stark Tag treatable tag was added to gene: RPL11.
Tag haematological tag was added to gene: RPL11.
Genomic newborn screening: BabyScreen+ v0.1430 RPL15 Zornitza Stark Tag treatable tag was added to gene: RPL15.
Tag haematological tag was added to gene: RPL15.
Genomic newborn screening: BabyScreen+ v0.1426 RPL5 Zornitza Stark Tag treatable tag was added to gene: RPL5.
Tag haematological tag was added to gene: RPL5.
Genomic newborn screening: BabyScreen+ v0.1426 SLC35A2 Zornitza Stark Tag for review was removed from gene: SLC35A2.
Tag treatable tag was added to gene: SLC35A2.
Genomic newborn screening: BabyScreen+ v0.1426 SLC30A10 Zornitza Stark Tag for review was removed from gene: SLC30A10.
Genomic newborn screening: BabyScreen+ v0.1426 SLC25A13 Zornitza Stark Tag for review was removed from gene: SLC25A13.
Tag treatable tag was added to gene: SLC25A13.
Genomic newborn screening: BabyScreen+ v0.1425 KARS Zornitza Stark Tag for review was removed from gene: KARS.
Genomic newborn screening: BabyScreen+ v0.1425 GUSB Zornitza Stark Tag for review was removed from gene: GUSB.
Genomic newborn screening: BabyScreen+ v0.1425 RYR1 Zornitza Stark Tag for review was removed from gene: RYR1.
Genomic newborn screening: BabyScreen+ v0.1425 CACNA1S Zornitza Stark Tag for review was removed from gene: CACNA1S.
Genomic newborn screening: BabyScreen+ v0.1425 ADA2 Zornitza Stark Tag for review was removed from gene: ADA2.
Tag treatable tag was added to gene: ADA2.
Tag immunological tag was added to gene: ADA2.
Genomic newborn screening: BabyScreen+ v0.1420 DMD Zornitza Stark Tag neurological tag was added to gene: DMD.
Genomic newborn screening: BabyScreen+ v0.1420 SLC39A14 Zornitza Stark Tag treatable tag was added to gene: SLC39A14.
Tag metabolic tag was added to gene: SLC39A14.
Genomic newborn screening: BabyScreen+ v0.1420 SLC30A10 Zornitza Stark Tag treatable tag was added to gene: SLC30A10.
Tag metabolic tag was added to gene: SLC30A10.
Genomic newborn screening: BabyScreen+ v0.1420 SLC35A2 Zornitza Stark Tag metabolic tag was added to gene: SLC35A2.
Genomic newborn screening: BabyScreen+ v0.1420 SLC35C1 Zornitza Stark Tag metabolic tag was added to gene: SLC35C1.
Genomic newborn screening: BabyScreen+ v0.1420 SLC39A7 Zornitza Stark Tag for review was removed from gene: SLC39A7.
Tag treatable tag was added to gene: SLC39A7.
Tag immunological tag was added to gene: SLC39A7.
Genomic newborn screening: BabyScreen+ v0.1420 SLC2A1 Zornitza Stark Tag treatable tag was added to gene: SLC2A1.
Tag neurological tag was added to gene: SLC2A1.
Genomic newborn screening: BabyScreen+ v0.1420 DMD Seb Lunke Tag for review tag was added to gene: DMD.
Genomic newborn screening: BabyScreen+ v0.1419 SLC37A4 Zornitza Stark Tag treatable tag was added to gene: SLC37A4.
Tag metabolic tag was added to gene: SLC37A4.
Genomic newborn screening: BabyScreen+ v0.1419 SLC39A4 Zornitza Stark Tag treatable tag was added to gene: SLC39A4.
Tag metabolic tag was added to gene: SLC39A4.
Genomic newborn screening: BabyScreen+ v0.1419 SLC39A8 Zornitza Stark Tag treatable tag was added to gene: SLC39A8.
Tag metabolic tag was added to gene: SLC39A8.
Genomic newborn screening: BabyScreen+ v0.1419 SLC3A1 Zornitza Stark Mode of inheritance for gene: SLC3A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1417 SLC3A1 Zornitza Stark Tag for review tag was added to gene: SLC3A1.
Tag treatable tag was added to gene: SLC3A1.
Tag renal tag was added to gene: SLC3A1.
Genomic newborn screening: BabyScreen+ v0.1411 SNAP25 Seb Lunke Tag for review tag was added to gene: SNAP25.
Genomic newborn screening: BabyScreen+ v0.1403 SMC1A Seb Lunke Mode of inheritance for gene: SMC1A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1401 SLC46A1 Zornitza Stark Tag treatable tag was added to gene: SLC46A1.
Tag metabolic tag was added to gene: SLC46A1.
Genomic newborn screening: BabyScreen+ v0.1401 SMAD3 Zornitza Stark Tag cardiac tag was added to gene: SMAD3.
Genomic newborn screening: BabyScreen+ v0.1401 SMARCAL1 Zornitza Stark Tag immunological tag was added to gene: SMARCAL1.
Genomic newborn screening: BabyScreen+ v0.1396 RPS15A Zornitza Stark Tag for review tag was added to gene: RPS15A.
Tag treatable tag was added to gene: RPS15A.
Tag haematological tag was added to gene: RPS15A.
Genomic newborn screening: BabyScreen+ v0.1396 RPS17 Zornitza Stark Tag treatable tag was added to gene: RPS17.
Tag haematological tag was added to gene: RPS17.
Genomic newborn screening: BabyScreen+ v0.1396 RPS19 Zornitza Stark Tag treatable tag was added to gene: RPS19.
Tag haematological tag was added to gene: RPS19.
Genomic newborn screening: BabyScreen+ v0.1396 RPS24 Zornitza Stark Tag treatable tag was added to gene: RPS24.
Tag haematological tag was added to gene: RPS24.
Genomic newborn screening: BabyScreen+ v0.1396 RPS26 Zornitza Stark Tag treatable tag was added to gene: RPS26.
Tag haematological tag was added to gene: RPS26.
Genomic newborn screening: BabyScreen+ v0.1394 SMARCAL1 Seb Lunke Tag for review tag was added to gene: SMARCAL1.
Genomic newborn screening: BabyScreen+ v0.1389 SMAD3 Seb Lunke Tag for review tag was added to gene: SMAD3.
Genomic newborn screening: BabyScreen+ v0.1389 SLC4A1 Zornitza Stark Tag treatable tag was added to gene: SLC4A1.
Tag renal tag was added to gene: SLC4A1.
Genomic newborn screening: BabyScreen+ v0.1389 SLC52A2 Zornitza Stark Tag treatable tag was added to gene: SLC52A2.
Tag metabolic tag was added to gene: SLC52A2.
Genomic newborn screening: BabyScreen+ v0.1389 SLC52A3 Zornitza Stark Tag treatable tag was added to gene: SLC52A3.
Tag metabolic tag was added to gene: SLC52A3.
Genomic newborn screening: BabyScreen+ v0.1389 SLC5A1 Zornitza Stark Tag treatable tag was added to gene: SLC5A1.
Tag gastrointestinal tag was added to gene: SLC5A1.
Genomic newborn screening: BabyScreen+ v0.1389 SLC5A5 Zornitza Stark Tag treatable tag was added to gene: SLC5A5.
Tag endocrine tag was added to gene: SLC5A5.
Genomic newborn screening: BabyScreen+ v0.1387 SLC6A8 Zornitza Stark Tag for review tag was added to gene: SLC6A8.
Tag metabolic tag was added to gene: SLC6A8.
Genomic newborn screening: BabyScreen+ v0.1387 SLC7A7 Zornitza Stark Tag treatable tag was added to gene: SLC7A7.
Tag metabolic tag was added to gene: SLC7A7.
Genomic newborn screening: BabyScreen+ v0.1387 SLC7A9 Zornitza Stark Mode of inheritance for gene: SLC7A9 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1386 SLC7A9 Zornitza Stark Tag for review tag was added to gene: SLC7A9.
Genomic newborn screening: BabyScreen+ v0.1386 SLX4 Zornitza Stark Tag treatable tag was added to gene: SLX4.
Tag haematological tag was added to gene: SLX4.
Genomic newborn screening: BabyScreen+ v0.1385 RPS27 Zornitza Stark Tag for review tag was added to gene: RPS27.
Tag treatable tag was added to gene: RPS27.
Tag haematological tag was added to gene: RPS27.
Genomic newborn screening: BabyScreen+ v0.1384 RPS28 Zornitza Stark Tag for review tag was added to gene: RPS28.
Tag treatable tag was added to gene: RPS28.
Tag haematological tag was added to gene: RPS28.
Genomic newborn screening: BabyScreen+ v0.1383 RPS29 Zornitza Stark Tag for review tag was added to gene: RPS29.
Tag treatable tag was added to gene: RPS29.
Tag haematological tag was added to gene: RPS29.
Genomic newborn screening: BabyScreen+ v0.1369 CACNA1S Zornitza Stark Tag for review tag was added to gene: CACNA1S.
Tag pharmacogenomic tag was added to gene: CACNA1S.
Genomic newborn screening: BabyScreen+ v0.1368 RYR1 Zornitza Stark Mode of inheritance for gene: RYR1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1367 RYR1 Zornitza Stark Tag for review tag was added to gene: RYR1.
Tag pharmacogenomic tag was added to gene: RYR1.
Genomic newborn screening: BabyScreen+ v0.1367 RYR2 Zornitza Stark Tag for review tag was added to gene: RYR2.
Tag cardiac tag was added to gene: RYR2.
Tag treatable tag was added to gene: RYR2.
Genomic newborn screening: BabyScreen+ v0.1366 INSR Zornitza Stark Mode of inheritance for gene: INSR was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1354 SLC6A5 Seb Lunke Tag for review tag was added to gene: SLC6A5.
Genomic newborn screening: BabyScreen+ v0.1350 SLC4A11 Seb Lunke Mode of inheritance for gene: SLC4A11 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1346 INS Zornitza Stark Mode of inheritance for gene: INS was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1345 INS Zornitza Stark Tag for review tag was added to gene: INS.
Tag treatable tag was added to gene: INS.
Tag endocrine tag was added to gene: INS.
Genomic newborn screening: BabyScreen+ v0.1344 HBB Zornitza Stark Tag for review tag was added to gene: HBB.
Tag treatable tag was added to gene: HBB.
Tag haematological tag was added to gene: HBB.
Genomic newborn screening: BabyScreen+ v0.1344 HBA2 Zornitza Stark Tag for review tag was added to gene: HBA2.
Tag treatable tag was added to gene: HBA2.
Tag haematological tag was added to gene: HBA2.
Genomic newborn screening: BabyScreen+ v0.1344 HBA1 Zornitza Stark Tag for review tag was added to gene: HBA1.
Tag haematological tag was added to gene: HBA1.
Genomic newborn screening: BabyScreen+ v0.1344 SLC4A1 Seb Lunke Tag for review tag was added to gene: SLC4A1.
Genomic newborn screening: BabyScreen+ v0.1342 SLC4A1 Seb Lunke Mode of inheritance for gene: SLC4A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1332 SLC37A4 Seb Lunke Mode of inheritance for gene: SLC37A4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1325 SLC2A1 Seb Lunke Mode of inheritance for gene: SLC2A1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1324 SLC2A1 Seb Lunke Mode of inheritance for gene: SLC2A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1317 SLC26A4 Seb Lunke Tag for review tag was added to gene: SLC26A4.
Genomic newborn screening: BabyScreen+ v0.1317 SLC39A7 Seb Lunke Tag for review tag was added to gene: SLC39A7.
Genomic newborn screening: BabyScreen+ v0.1316 SLC39A7 Seb Lunke gene: SLC39A7 was added
gene: SLC39A7 was added to gNBS. Sources: Literature
Mode of inheritance for gene: SLC39A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A7 were set to 30718914
Phenotypes for gene: SLC39A7 were set to Agammaglobulinaemia 9, autosomal recessive, MIM# 619693
Added comment: Established gene-disease association.

Childhood onset, primary immunodeficiency

Treatment: Bone marrow transplant (hematopoietic stem cell transplantation (HSCT)), replacement immunoglobulin treatment

Non-genetic confirmatory test: immunoglobulin levels, T and B Lymphocyte and Natural Killer Cell Profile
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.1312 SLC35C1 Seb Lunke Tag for review tag was added to gene: SLC35C1.
Genomic newborn screening: BabyScreen+ v0.1309 SLC35A2 Seb Lunke Tag for review tag was added to gene: SLC35A2.
Genomic newborn screening: BabyScreen+ v0.1308 SLC30A10 Seb Lunke gene: SLC30A10 was added
gene: SLC30A10 was added to gNBS. Sources: Literature
for review tags were added to gene: SLC30A10.
Mode of inheritance for gene: SLC30A10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC30A10 were set to 31089831
Phenotypes for gene: SLC30A10 were set to Hypermanganesemia with dystonia 1, MIM# 613280
Review for gene: SLC30A10 was set to GREEN
Added comment: Established gene-disease association.

Childhood onset, usually in first decade and multiple under 5 (youngest 2). Multi-system disorder

Treatment: manganese chelation therapy with EDTA-CaNa2 accepted as effective, other treatments under investigation.

Non-genetic confirmatory test: Mn level
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.1307 SLC39A14 Seb Lunke Tag for review tag was added to gene: SLC39A14.
Genomic newborn screening: BabyScreen+ v0.1306 SLC39A14 Seb Lunke gene: SLC39A14 was added
gene: SLC39A14 was added to gNBS. Sources: Literature
Mode of inheritance for gene: SLC39A14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A14 were set to 31089831
Phenotypes for gene: SLC39A14 were set to Hypermanganesemia with dystonia 2, MIM# 617013
Review for gene: SLC39A14 was set to AMBER
Added comment: Established gene-disease association.

Childhood onset, multi-system disorder

Treatment: manganese chelation therapy with EDTA-CaNa2 with strong improvements in one patient, less effective in multiple others. Age of treatment start (earlier = better) and genotype may impact outcome.

Non-genetic confirmatory test: Mn level
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.1303 GLA Zornitza Stark Tag treatable tag was added to gene: GLA.
Tag metabolic tag was added to gene: GLA.
Genomic newborn screening: BabyScreen+ v0.1302 GGCX Zornitza Stark Tag treatable tag was added to gene: GGCX.
Tag haematological tag was added to gene: GGCX.
Genomic newborn screening: BabyScreen+ v0.1299 GLUD1 Zornitza Stark Tag treatable tag was added to gene: GLUD1.
Tag endocrine tag was added to gene: GLUD1.
Genomic newborn screening: BabyScreen+ v0.1297 HCFC1 Zornitza Stark Mode of inheritance for gene: HCFC1 was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1294 HNF1A Zornitza Stark Tag treatable tag was added to gene: HNF1A.
Tag endocrine tag was added to gene: HNF1A.
Genomic newborn screening: BabyScreen+ v0.1292 HNF4A Zornitza Stark Tag for review tag was added to gene: HNF4A.
Tag endocrine tag was added to gene: HNF4A.
Genomic newborn screening: BabyScreen+ v0.1276 HPRT1 Zornitza Stark Tag for review tag was added to gene: HPRT1.
Genomic newborn screening: BabyScreen+ v0.1268 HSD3B2 Zornitza Stark Tag treatable tag was added to gene: HSD3B2.
Tag endocrine tag was added to gene: HSD3B2.
Genomic newborn screening: BabyScreen+ v0.1267 HSD3B7 Zornitza Stark Tag treatable tag was added to gene: HSD3B7.
Tag liver tag was added to gene: HSD3B7.
Genomic newborn screening: BabyScreen+ v0.1261 SLC4A4 Seb Lunke Tag for review tag was added to gene: SLC4A4.
Genomic newborn screening: BabyScreen+ v0.1259 IL2RB Zornitza Stark Tag treatable tag was added to gene: IL2RB.
Tag immunological tag was added to gene: IL2RB.
Genomic newborn screening: BabyScreen+ v0.1257 SLC5A6 Seb Lunke gene: SLC5A6 was added
gene: SLC5A6 was added to gNBS. Sources: Literature
for review tags were added to gene: SLC5A6.
Mode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal
Review for gene: SLC5A6 was set to GREEN
Added comment: Established gene-disease association.

Childhood onset, multisystemic metabolic disorder with highly variable manifestations

Treatment: biotin, pantothenic acid, lipoate

Non-genetic confirmatory test: no
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.1255 SLC5A7 Seb Lunke gene: SLC5A7 was added
gene: SLC5A7 was added to gNBS. Sources: Literature
Mode of inheritance for gene: SLC5A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC5A7 were set to 20301347
Phenotypes for gene: SLC5A7 were set to Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143
Review for gene: SLC5A7 was set to GREEN
Added comment: Established gene-disease association.

Childhood onset, severe neuromuscular disorder
(recessive disease)

Treatment: Salbutamol, Acetylcholine-esterase inhibitors

Non-genetic confirmatory test: repetitive nerve stimulation test
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.1253 SLC9A3 Seb Lunke gene: SLC9A3 was added
gene: SLC9A3 was added to gNBS. Sources: Literature
for review tags were added to gene: SLC9A3.
Mode of inheritance for gene: SLC9A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC9A3 were set to Diarrhoea 8, secretory sodium, congenital, MiM# 616868
Review for gene: SLC9A3 was set to AMBER
Added comment: Established gene-disease association.

Childhood onset, congenital diarrhea. ?severity

Treatment: sodium, bicarbonate

Non-genetic confirmatory test: fecal sodium concentration
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.1251 ADA2 Seb Lunke gene: ADA2 was added
gene: ADA2 was added to gNBS. Sources: Literature
for review tags were added to gene: ADA2.
Mode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADA2 were set to Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688
Review for gene: ADA2 was set to GREEN
Added comment: Established gene-disease association.

Childhood onset but variable, multisystem disorder with variable severity. Onset common <5 years

Treatment: TNF inhibitor, hematopoietic stem cell transplantation, IL6 receptor antibody (tocilizumab)

Non-genetic confirmatory test: plasma ADA2 enzyme activity
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.1250 IL7R Zornitza Stark Tag treatable tag was added to gene: IL7R.
Tag immunological tag was added to gene: IL7R.
Genomic newborn screening: BabyScreen+ v0.1250 IL2RG Zornitza Stark Tag treatable tag was added to gene: IL2RG.
Tag immunological tag was added to gene: IL2RG.
Genomic newborn screening: BabyScreen+ v0.1248 IKBKG Zornitza Stark Tag for review tag was added to gene: IKBKG.
Tag treatable tag was added to gene: IKBKG.
Tag immunological tag was added to gene: IKBKG.
Genomic newborn screening: BabyScreen+ v0.1248 IGSF1 Zornitza Stark Tag treatable tag was added to gene: IGSF1.
Tag endocrine tag was added to gene: IGSF1.
Genomic newborn screening: BabyScreen+ v0.1247 IGLL1 Zornitza Stark Tag treatable tag was added to gene: IGLL1.
Tag immunological tag was added to gene: IGLL1.
Genomic newborn screening: BabyScreen+ v0.1245 IGHM Zornitza Stark Tag treatable tag was added to gene: IGHM.
Tag immunological tag was added to gene: IGHM.
Genomic newborn screening: BabyScreen+ v0.1244 IDUA Zornitza Stark Tag treatable tag was added to gene: IDUA.
Tag metabolic tag was added to gene: IDUA.
Genomic newborn screening: BabyScreen+ v0.1243 IDS Zornitza Stark Tag treatable tag was added to gene: IDS.
Tag metabolic tag was added to gene: IDS.
Genomic newborn screening: BabyScreen+ v0.1242 IL10RA Zornitza Stark Tag treatable tag was added to gene: IL10RA.
Tag immunological tag was added to gene: IL10RA.
Genomic newborn screening: BabyScreen+ v0.1238 IRAK4 Zornitza Stark Tag treatable tag was added to gene: IRAK4.
Tag immunological tag was added to gene: IRAK4.
Genomic newborn screening: BabyScreen+ v0.1233 ITGB2 Zornitza Stark Tag treatable tag was added to gene: ITGB2.
Tag immunological tag was added to gene: ITGB2.
Genomic newborn screening: BabyScreen+ v0.1232 ITGB4 Zornitza Stark Mode of inheritance for gene: ITGB4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1230 IYD Zornitza Stark Tag treatable tag was added to gene: IYD.
Tag endocrine tag was added to gene: IYD.
Genomic newborn screening: BabyScreen+ v0.1229 HK1 Zornitza Stark Mode of inheritance for gene: HK1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1227 JAK3 Zornitza Stark Tag treatable tag was added to gene: JAK3.
Tag immunological tag was added to gene: JAK3.
Genomic newborn screening: BabyScreen+ v0.1221 KARS Zornitza Stark Tag for review tag was added to gene: KARS.
Genomic newborn screening: BabyScreen+ v0.1217 KCNJ2 Zornitza Stark Tag for review tag was added to gene: KCNJ2.
Tag cardiac tag was added to gene: KCNJ2.
Genomic newborn screening: BabyScreen+ v0.1214 KBTBD13 Zornitza Stark Mode of inheritance for gene: KBTBD13 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1206 HGF Zornitza Stark Tag deep intronic tag was added to gene: HGF.
Tag founder tag was added to gene: HGF.
Genomic newborn screening: BabyScreen+ v0.1206 HGD Zornitza Stark Tag treatable tag was added to gene: HGD.
Tag metabolic tag was added to gene: HGD.
Genomic newborn screening: BabyScreen+ v0.1201 HDAC8 Zornitza Stark Mode of inheritance for gene: HDAC8 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.1198 GJC2 Zornitza Stark Mode of inheritance for gene: GJC2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1195 GJB1 Zornitza Stark Mode of inheritance for gene: GJB1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.1191 GIF Zornitza Stark Tag new gene name tag was added to gene: GIF.
Tag treatable tag was added to gene: GIF.
Tag haematological tag was added to gene: GIF.
Genomic newborn screening: BabyScreen+ v0.1191 SLC16A1 Zornitza Stark Mode of inheritance for gene: SLC16A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1190 SLC16A1 Zornitza Stark Tag metabolic tag was added to gene: SLC16A1.
Genomic newborn screening: BabyScreen+ v0.1190 SLC25A38 Zornitza Stark Tag treatable tag was added to gene: SLC25A38.
Tag haematological tag was added to gene: SLC25A38.
Genomic newborn screening: BabyScreen+ v0.1190 SLC25A20 Zornitza Stark Tag metabolic tag was added to gene: SLC25A20.
Genomic newborn screening: BabyScreen+ v0.1189 TNFRSF11A Zornitza Stark Tag treatable tag was added to gene: TNFRSF11A.
Tag skeletal tag was added to gene: TNFRSF11A.
Genomic newborn screening: BabyScreen+ v0.1186 TNFRSF11B Zornitza Stark Tag for review tag was added to gene: TNFRSF11B.
Tag skeletal tag was added to gene: TNFRSF11B.
Genomic newborn screening: BabyScreen+ v0.1183 TNFSF11 Zornitza Stark Tag for review tag was added to gene: TNFSF11.
Tag skeletal tag was added to gene: TNFSF11.
Genomic newborn screening: BabyScreen+ v0.1172 TP53 Zornitza Stark Tag for review tag was added to gene: TP53.
Tag cancer tag was added to gene: TP53.
Tag treatable tag was added to gene: TP53.
Genomic newborn screening: BabyScreen+ v0.1165 SLC26A2 Seb Lunke Tag for review tag was added to gene: SLC26A2.
Genomic newborn screening: BabyScreen+ v0.1162 SLC25A4 Seb Lunke Mode of inheritance for gene: SLC25A4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1159 SLC16A1 Seb Lunke Tag for review tag was added to gene: SLC16A1.
Genomic newborn screening: BabyScreen+ v0.1157 SLC13A5 Seb Lunke gene: SLC13A5 was added
gene: SLC13A5 was added to gNBS. Sources: Literature
for review tags were added to gene: SLC13A5.
Mode of inheritance for gene: SLC13A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC13A5 were set to 29895383
Phenotypes for gene: SLC13A5 were set to Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905
Review for gene: SLC13A5 was set to AMBER
Added comment: Established gene-disease association.

Childhood onset, neurological condition

Treatment: Ketogenic diet, stiripentol effective in one study of three related patients

Non-genetic confirmatory test: plasma and CSF citrate levels
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.1153 SLC25A19 Zornitza Stark Tag for review was removed from gene: SLC25A19.
Tag treatable tag was added to gene: SLC25A19.
Tag metabolic tag was added to gene: SLC25A19.
Genomic newborn screening: BabyScreen+ v0.1153 SLC18A2 Zornitza Stark Tag for review was removed from gene: SLC18A2.
Tag treatable tag was added to gene: SLC18A2.
Tag neurological tag was added to gene: SLC18A2.
Genomic newborn screening: BabyScreen+ v0.1151 SLC25A13 Zornitza Stark Tag metabolic tag was added to gene: SLC25A13.
Genomic newborn screening: BabyScreen+ v0.1151 TSHR Zornitza Stark Tag for review was removed from gene: TSHR.
Tag treatable tag was added to gene: TSHR.
Tag endocrine tag was added to gene: TSHR.
Genomic newborn screening: BabyScreen+ v0.1151 COL11A1 Zornitza Stark Tag for review was removed from gene: COL11A1.
Tag ophthalmological tag was added to gene: COL11A1.
Genomic newborn screening: BabyScreen+ v0.1148 SLC25A13 Seb Lunke Tag for review tag was added to gene: SLC25A13.
Genomic newborn screening: BabyScreen+ v0.1148 SLC25A19 Seb Lunke gene: SLC25A19 was added
gene: SLC25A19 was added to gNBS. Sources: Literature
for review tags were added to gene: SLC25A19.
Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A19 were set to 31095747
Phenotypes for gene: SLC25A19 were set to Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), MIM#613710
Review for gene: SLC25A19 was set to AMBER
Added comment: Established gene-disease association.

Onset of acute encephalopathic attacks in childhood (3 to 7 years) often after febrile illness, full recovery after attacks. Onset of chronic progressive polyneuropathy in late childhood.

Treatment: 5 patients treated with thiamine supplementation, which led to a substantial improvement in peripheral neuropathy and gait in early treated patients

Non-genetic confirmatory test: No
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.1146 HAX1 Zornitza Stark Tag treatable tag was added to gene: HAX1.
Tag haematological tag was added to gene: HAX1.
Genomic newborn screening: BabyScreen+ v0.1138 TREX1 Zornitza Stark Tag for review tag was added to gene: TREX1.
Tag treatable tag was added to gene: TREX1.
Tag neurological tag was added to gene: TREX1.
Genomic newborn screening: BabyScreen+ v0.1138 TPP1 Zornitza Stark Tag for review tag was added to gene: TPP1.
Tag treatable tag was added to gene: TPP1.
Tag metabolic tag was added to gene: TPP1.
Genomic newborn screening: BabyScreen+ v0.1132 TPO Zornitza Stark Tag treatable tag was added to gene: TPO.
Tag endocrine tag was added to gene: TPO.
Genomic newborn screening: BabyScreen+ v0.1131 HADH Zornitza Stark Tag treatable tag was added to gene: HADH.
Tag metabolic tag was added to gene: HADH.
Genomic newborn screening: BabyScreen+ v0.1131 GOT2 Zornitza Stark Tag treatable tag was added to gene: GOT2.
Tag neurological tag was added to gene: GOT2.
Genomic newborn screening: BabyScreen+ v0.1124 GRHL2 Zornitza Stark Mode of inheritance for gene: GRHL2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1121 GRHPR Zornitza Stark Tag treatable tag was added to gene: GRHPR.
Tag clinical trial tag was added to gene: GRHPR.
Tag metabolic tag was added to gene: GRHPR.
Genomic newborn screening: BabyScreen+ v0.1118 GCM2 Zornitza Stark gene: GCM2 was added
gene: GCM2 was added to gNBS. Sources: Expert Review
Mode of inheritance for gene: GCM2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: GCM2 were set to 27745835; 20190276; 34967908; 35038313
Phenotypes for gene: GCM2 were set to Hyperparathyroidism 4, OMIM #617343; Hypoparathyroidism, familial isolated 2, OMIM #618883
Review for gene: GCM2 was set to GREEN
Added comment: Well established association. GoF for AD hyperparathyroidism, and LoF for AR hypoparathyroidism.

Variable age of onset.

Treatment for hypoPTH: calcium carbonate, calcitriol. HyperPTH: surgery?

Non-genetic confirmatory tests: calcium, phosphate, parathyroid hormone
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1117 GUSB Zornitza Stark Tag for review tag was added to gene: GUSB.
Tag treatable tag was added to gene: GUSB.
Tag metabolic tag was added to gene: GUSB.
Genomic newborn screening: BabyScreen+ v0.1116 GYS2 Zornitza Stark Tag metabolic tag was added to gene: GYS2.
Genomic newborn screening: BabyScreen+ v0.1116 GYS2 Zornitza Stark Tag treatable tag was added to gene: GYS2.
Genomic newborn screening: BabyScreen+ v0.1113 GNE Zornitza Stark Tag for review tag was added to gene: GNE.
Tag neurological tag was added to gene: GNE.
Genomic newborn screening: BabyScreen+ v0.1110 GJA1 Zornitza Stark Mode of inheritance for gene: GJA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1103 SLC25A1 Zornitza Stark Tag neurological tag was added to gene: SLC25A1.
Genomic newborn screening: BabyScreen+ v0.1103 SLC19A3 Zornitza Stark Tag treatable tag was added to gene: SLC19A3.
Genomic newborn screening: BabyScreen+ v0.1103 SLC19A2 Zornitza Stark Tag treatable tag was added to gene: SLC19A2.
Genomic newborn screening: BabyScreen+ v0.1101 SLC25A1 Seb Lunke Tag for review tag was added to gene: SLC25A1.
Genomic newborn screening: BabyScreen+ v0.1094 SLC18A2 Seb Lunke Tag for review tag was added to gene: SLC18A2.
Genomic newborn screening: BabyScreen+ v0.1093 KDM6A Zornitza Stark Mode of inheritance for gene: KDM6A was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.1079 KAT6B Zornitza Stark Mode of inheritance for gene: KAT6B was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1074 KRT14 Zornitza Stark Mode of inheritance for gene: KRT14 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1067 KRT5 Zornitza Stark Mode of inheritance for gene: KRT5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1053 AMN Zornitza Stark Tag haematological tag was added to gene: AMN.
Genomic newborn screening: BabyScreen+ v0.1053 ALPL Zornitza Stark Tag skeletal tag was added to gene: ALPL.
Genomic newborn screening: BabyScreen+ v0.1053 ALDOB Zornitza Stark Tag metabolic tag was added to gene: ALDOB.
Genomic newborn screening: BabyScreen+ v0.1053 ALDH7A1 Zornitza Stark Tag metabolic tag was added to gene: ALDH7A1.
Genomic newborn screening: BabyScreen+ v0.1053 AKR1D1 Zornitza Stark Tag GI tag was added to gene: AKR1D1.
Genomic newborn screening: BabyScreen+ v0.1053 AK2 Zornitza Stark Tag haematological tag was added to gene: AK2.
Genomic newborn screening: BabyScreen+ v0.1053 AIRE Zornitza Stark Tag endocrine tag was added to gene: AIRE.
Genomic newborn screening: BabyScreen+ v0.1053 AHCY Zornitza Stark Tag metabolic tag was added to gene: AHCY.
Genomic newborn screening: BabyScreen+ v0.1053 AGXT Zornitza Stark Tag metabolic tag was added to gene: AGXT.
Genomic newborn screening: BabyScreen+ v0.1053 AGRN Zornitza Stark Tag neurological tag was added to gene: AGRN.
Genomic newborn screening: BabyScreen+ v0.1053 AGL Zornitza Stark Tag treatable tag was added to gene: AGL.
Tag metabolic tag was added to gene: AGL.
Genomic newborn screening: BabyScreen+ v0.1053 ADGRV1 Zornitza Stark Tag deafness tag was added to gene: ADGRV1.
Genomic newborn screening: BabyScreen+ v0.1053 ADAMTS13 Zornitza Stark Tag haematological tag was added to gene: ADAMTS13.
Genomic newborn screening: BabyScreen+ v0.1053 ADA Zornitza Stark Tag immunological tag was added to gene: ADA.
Genomic newborn screening: BabyScreen+ v0.1053 ACAT1 Zornitza Stark Tag metabolic tag was added to gene: ACAT1.
Genomic newborn screening: BabyScreen+ v0.1053 ACADVL Zornitza Stark Tag metabolic tag was added to gene: ACADVL.
Genomic newborn screening: BabyScreen+ v0.1053 ACADM Zornitza Stark Tag metabolic tag was added to gene: ACADM.
Genomic newborn screening: BabyScreen+ v0.1053 ACAD9 Zornitza Stark Tag metabolic tag was added to gene: ACAD9.
Genomic newborn screening: BabyScreen+ v0.1053 ABCG5 Zornitza Stark Tag metabolic tag was added to gene: ABCG5.
Genomic newborn screening: BabyScreen+ v0.1053 ABCD1 Zornitza Stark Tag metabolic tag was added to gene: ABCD1.
Genomic newborn screening: BabyScreen+ v0.1053 AAAS Zornitza Stark Tag treatable tag was added to gene: AAAS.
Tag endocrine tag was added to gene: AAAS.
Genomic newborn screening: BabyScreen+ v0.1053 APRT Zornitza Stark Tag for review was removed from gene: APRT.
Genomic newborn screening: BabyScreen+ v0.1052 ATP2B2 Zornitza Stark Tag for review was removed from gene: ATP2B2.
Genomic newborn screening: BabyScreen+ v0.1052 BMPR1A Zornitza Stark Tag for review was removed from gene: BMPR1A.
Genomic newborn screening: BabyScreen+ v0.1052 CASQ2 Zornitza Stark Tag cardiac tag was added to gene: CASQ2.
Genomic newborn screening: BabyScreen+ v0.1051 DDB2 Zornitza Stark Tag for review was removed from gene: DDB2.
Genomic newborn screening: BabyScreen+ v0.1051 EMD Zornitza Stark Tag for review was removed from gene: EMD.
Genomic newborn screening: BabyScreen+ v0.1051 UROD Zornitza Stark Tag for review tag was added to gene: UROD.
Genomic newborn screening: BabyScreen+ v0.1051 UROD Zornitza Stark Tag for review was removed from gene: UROD.
Genomic newborn screening: BabyScreen+ v0.1051 ERCC5 Zornitza Stark Tag for review was removed from gene: ERCC5.
Genomic newborn screening: BabyScreen+ v0.1050 TSC1 Zornitza Stark Tag for review was removed from gene: TSC1.
Genomic newborn screening: BabyScreen+ v0.1049 TSC2 Zornitza Stark Tag for review was removed from gene: TSC2.
Genomic newborn screening: BabyScreen+ v0.1048 TTC7A Zornitza Stark Tag for review was removed from gene: TTC7A.
Genomic newborn screening: BabyScreen+ v0.1047 ERCC2 Zornitza Stark Tag for review was removed from gene: ERCC2.
Genomic newborn screening: BabyScreen+ v0.1046 TSHR Zornitza Stark Mode of inheritance for gene: TSHR was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1045 FLCN Zornitza Stark Tag for review was removed from gene: FLCN.
Genomic newborn screening: BabyScreen+ v0.1044 FGFR3 Zornitza Stark Tag clinical trial tag was added to gene: FGFR3.
Genomic newborn screening: BabyScreen+ v0.1040 ACAT1 Zornitza Stark Tag treatable tag was added to gene: ACAT1.
Genomic newborn screening: BabyScreen+ v0.1036 FANCB Zornitza Stark Tag treatable tag was added to gene: FANCB.
Genomic newborn screening: BabyScreen+ v0.1034 FANCG Zornitza Stark Tag treatable tag was added to gene: FANCG.
Genomic newborn screening: BabyScreen+ v0.1034 FANCI Zornitza Stark Tag treatable tag was added to gene: FANCI.
Genomic newborn screening: BabyScreen+ v0.1031 FBN1 Zornitza Stark Tag for review tag was added to gene: FBN1.
Genomic newborn screening: BabyScreen+ v0.1030 GDAP1 Zornitza Stark Mode of inheritance for gene: GDAP1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1029 GDAP1 Zornitza Stark Mode of inheritance for gene: GDAP1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1027 FERMT3 Zornitza Stark Tag treatable tag was added to gene: FERMT3.
Genomic newborn screening: BabyScreen+ v0.1018 SLC34A3 Zornitza Stark Tag treatable tag was added to gene: SLC34A3.
Genomic newborn screening: BabyScreen+ v0.1012 FGFR3 Zornitza Stark Tag for review tag was added to gene: FGFR3.
Tag treatable tag was added to gene: FGFR3.
Genomic newborn screening: BabyScreen+ v0.1011 FGG Zornitza Stark Tag treatable tag was added to gene: FGG.
Genomic newborn screening: BabyScreen+ v0.1005 FLCN Zornitza Stark Tag for review tag was added to gene: FLCN.
Genomic newborn screening: BabyScreen+ v0.1002 FOXA2 Zornitza Stark Mode of inheritance for gene: FOXA2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Genomic newborn screening: BabyScreen+ v0.992 FOXP3 Zornitza Stark Tag treatable tag was added to gene: FOXP3.
Genomic newborn screening: BabyScreen+ v0.988 GLDC Zornitza Stark Tag for review tag was added to gene: GLDC.
Genomic newborn screening: BabyScreen+ v0.983 F10 Zornitza Stark Tag for review tag was added to gene: F10.
Genomic newborn screening: BabyScreen+ v0.972 EXT2 Zornitza Stark Mode of inheritance for gene: EXT2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.967 EVC2 Zornitza Stark Mode of inheritance for gene: EVC2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.953 ERCC5 Zornitza Stark Tag for review tag was added to gene: ERCC5.
Genomic newborn screening: BabyScreen+ v0.951 ERCC2 Zornitza Stark Tag for review tag was added to gene: ERCC2.
Genomic newborn screening: BabyScreen+ v0.946 ENPP1 Zornitza Stark Tag treatable tag was added to gene: ENPP1.
Genomic newborn screening: BabyScreen+ v0.944 TTC7A Zornitza Stark Tag for review tag was added to gene: TTC7A.
Genomic newborn screening: BabyScreen+ v0.940 TTC21B Zornitza Stark Mode of inheritance for gene: TTC21B was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.934 TSHR Zornitza Stark Mode of inheritance for gene: TSHR was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.933 TSHR Zornitza Stark Tag for review tag was added to gene: TSHR.
Genomic newborn screening: BabyScreen+ v0.931 TSHB Zornitza Stark Tag treatable tag was added to gene: TSHB.
Genomic newborn screening: BabyScreen+ v0.927 TSC2 Zornitza Stark Tag for review tag was added to gene: TSC2.
Genomic newborn screening: BabyScreen+ v0.926 TSC1 Zornitza Stark Tag for review tag was added to gene: TSC1.
Genomic newborn screening: BabyScreen+ v0.923 TRPM4 Zornitza Stark Tag for review tag was added to gene: TRPM4.
Genomic newborn screening: BabyScreen+ v0.921 TRMU Zornitza Stark Tag treatable tag was added to gene: TRMU.
Genomic newborn screening: BabyScreen+ v0.910 EMD Zornitza Stark Tag for review tag was added to gene: EMD.
Genomic newborn screening: BabyScreen+ v0.909 ELP1 Zornitza Stark Mode of inheritance for gene: ELP1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.903 EGR2 Zornitza Stark Mode of inheritance for gene: EGR2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.898 EDARADD Zornitza Stark Mode of inheritance for gene: EDARADD was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.890 DUOXA2 Zornitza Stark Tag treatable tag was added to gene: DUOXA2.
Genomic newborn screening: BabyScreen+ v0.889 DUOX2 Zornitza Stark Tag treatable tag was added to gene: DUOX2.
Genomic newborn screening: BabyScreen+ v0.889 DOK7 Zornitza Stark Tag treatable tag was added to gene: DOK7.
Genomic newborn screening: BabyScreen+ v0.889 DOCK8 Zornitza Stark Tag treatable tag was added to gene: DOCK8.
Genomic newborn screening: BabyScreen+ v0.889 DNMT3B Zornitza Stark Tag treatable tag was added to gene: DNMT3B.
Genomic newborn screening: BabyScreen+ v0.872 DIAPH1 Zornitza Stark Mode of inheritance for gene: DIAPH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.869 DFNB59 Zornitza Stark Tag new gene name tag was added to gene: DFNB59.
Genomic newborn screening: BabyScreen+ v0.867 DFNA5 Zornitza Stark Tag new gene name tag was added to gene: DFNA5.
Genomic newborn screening: BabyScreen+ v0.867 PALB2 Zornitza Stark Tag for review was removed from gene: PALB2.
Genomic newborn screening: BabyScreen+ v0.866 SCN8A Zornitza Stark Tag for review was removed from gene: SCN8A.
Genomic newborn screening: BabyScreen+ v0.866 NPC2 Zornitza Stark Tag for review was removed from gene: NPC2.
Genomic newborn screening: BabyScreen+ v0.866 MYO6 Zornitza Stark Tag for review was removed from gene: MYO6.
Genomic newborn screening: BabyScreen+ v0.866 PAX6 Zornitza Stark Tag for review was removed from gene: PAX6.
Genomic newborn screening: BabyScreen+ v0.866 SLC12A3 Zornitza Stark Tag for review was removed from gene: SLC12A3.
Genomic newborn screening: BabyScreen+ v0.866 NBN Zornitza Stark Tag for review was removed from gene: NBN.
Genomic newborn screening: BabyScreen+ v0.866 TYR Zornitza Stark Tag for review was removed from gene: TYR.
Genomic newborn screening: BabyScreen+ v0.865 APC Zornitza Stark Tag for review was removed from gene: APC.
Genomic newborn screening: BabyScreen+ v0.864 LAMA2 Zornitza Stark Tag pharmacogenomic tag was added to gene: LAMA2.
Genomic newborn screening: BabyScreen+ v0.864 LAMA2 Zornitza Stark Tag for review was removed from gene: LAMA2.
Genomic newborn screening: BabyScreen+ v0.864 DGUOK Zornitza Stark Tag for review was removed from gene: DGUOK.
Genomic newborn screening: BabyScreen+ v0.864 ALAS2 Zornitza Stark Tag for review was removed from gene: ALAS2.
Genomic newborn screening: BabyScreen+ v0.862 ACVRL1 Zornitza Stark Tag for review was removed from gene: ACVRL1.
Genomic newborn screening: BabyScreen+ v0.862 PCBD1 Zornitza Stark Tag for review was removed from gene: PCBD1.
Genomic newborn screening: BabyScreen+ v0.861 GFPT1 Zornitza Stark Tag for review was removed from gene: GFPT1.
Genomic newborn screening: BabyScreen+ v0.857 GFAP Zornitza Stark Tag for review was removed from gene: GFAP.
Tag clinical trial tag was added to gene: GFAP.
Genomic newborn screening: BabyScreen+ v0.856 DHCR7 Zornitza Stark Tag for review was removed from gene: DHCR7.
Genomic newborn screening: BabyScreen+ v0.855 SERPINA1 Zornitza Stark Tag for review was removed from gene: SERPINA1.
Genomic newborn screening: BabyScreen+ v0.851 GFPT1 Alison Yeung Tag for review tag was added to gene: GFPT1.
Genomic newborn screening: BabyScreen+ v0.851 GFM1 Alison Yeung Tag review tag was added to gene: GFM1.
Genomic newborn screening: BabyScreen+ v0.851 GFAP Alison Yeung Tag for review tag was added to gene: GFAP.
Genomic newborn screening: BabyScreen+ v0.849 DDB2 Zornitza Stark Tag for review tag was added to gene: DDB2.
Genomic newborn screening: BabyScreen+ v0.846 DCLRE1C Zornitza Stark Tag treatable tag was added to gene: DCLRE1C.
Genomic newborn screening: BabyScreen+ v0.845 COL4A5 Zornitza Stark Mode of inheritance for gene: COL4A5 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.844 COL4A5 Zornitza Stark Tag treatable tag was added to gene: COL4A5.
Genomic newborn screening: BabyScreen+ v0.843 COL2A1 Zornitza Stark Tag for review tag was added to gene: COL2A1.
Genomic newborn screening: BabyScreen+ v0.840 COL7A1 Zornitza Stark Mode of inheritance for gene: COL7A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.826 TYR Zornitza Stark Tag for review tag was added to gene: TYR.
Genomic newborn screening: BabyScreen+ v0.825 UBE2T Zornitza Stark Tag treatable tag was added to gene: UBE2T.
Genomic newborn screening: BabyScreen+ v0.822 COL6A3 Zornitza Stark Mode of inheritance for gene: COL6A3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.819 COL6A2 Zornitza Stark Mode of inheritance for gene: COL6A2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.816 COL6A1 Zornitza Stark Mode of inheritance for gene: COL6A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.813 COL9A3 Zornitza Stark Tag for review tag was added to gene: COL9A3.
Genomic newborn screening: BabyScreen+ v0.811 TTPA Zornitza Stark Tag treatable tag was added to gene: TTPA.
Genomic newborn screening: BabyScreen+ v0.799 CSF3R Zornitza Stark Mode of inheritance for gene: CSF3R was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.798 CSF3R Zornitza Stark Tag treatable tag was added to gene: CSF3R.
Genomic newborn screening: BabyScreen+ v0.793 UGT1A1 Zornitza Stark Tag treatable tag was added to gene: UGT1A1.
Genomic newborn screening: BabyScreen+ v0.789 CTPS1 Zornitza Stark Tag treatable tag was added to gene: CTPS1.
Genomic newborn screening: BabyScreen+ v0.785 CXCR4 Zornitza Stark Tag treatable tag was added to gene: CXCR4.
Genomic newborn screening: BabyScreen+ v0.785 CYBA Zornitza Stark Tag treatable tag was added to gene: CYBA.
Genomic newborn screening: BabyScreen+ v0.785 CYBB Zornitza Stark Tag treatable tag was added to gene: CYBB.
Genomic newborn screening: BabyScreen+ v0.782 GBA Zornitza Stark Tag treatable tag was added to gene: GBA.
Genomic newborn screening: BabyScreen+ v0.782 G6PC3 Zornitza Stark Tag treatable tag was added to gene: G6PC3.
Genomic newborn screening: BabyScreen+ v0.778 COL1A1 Zornitza Stark Tag treatable tag was added to gene: COL1A1.
Genomic newborn screening: BabyScreen+ v0.774 PHYH Zornitza Stark Tag treatable tag was added to gene: PHYH.
Genomic newborn screening: BabyScreen+ v0.773 PHKG2 Zornitza Stark Tag treatable tag was added to gene: PHKG2.
Genomic newborn screening: BabyScreen+ v0.770 PHGDH Zornitza Stark Tag treatable tag was added to gene: PHGDH.
Genomic newborn screening: BabyScreen+ v0.770 PGM1 Zornitza Stark Tag treatable tag was added to gene: PGM1.
Genomic newborn screening: BabyScreen+ v0.749 CYP27A1 Zornitza Stark Tag for review tag was added to gene: CYP27A1.
Genomic newborn screening: BabyScreen+ v0.749 PCBD1 Zornitza Stark Tag for review tag was added to gene: PCBD1.
Genomic newborn screening: BabyScreen+ v0.749 UROD Zornitza Stark Tag for review tag was added to gene: UROD.
Genomic newborn screening: BabyScreen+ v0.747 PAX6 Zornitza Stark Tag for review tag was added to gene: PAX6.
Genomic newborn screening: BabyScreen+ v0.744 PALB2 Zornitza Stark Tag for review tag was added to gene: PALB2.
Genomic newborn screening: BabyScreen+ v0.742 P2RY12 Zornitza Stark Mode of inheritance for gene: P2RY12 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.735 PDHA1 Zornitza Stark Mode of inheritance for gene: PDHA1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.730 NPC2 Zornitza Stark Tag for review tag was added to gene: NPC2.
Genomic newborn screening: BabyScreen+ v0.728 CYP27A1 Zornitza Stark Tag for review was removed from gene: CYP27A1.
Genomic newborn screening: BabyScreen+ v0.728 CLN6 Zornitza Stark Tag for review was removed from gene: CLN6.
Genomic newborn screening: BabyScreen+ v0.728 CLN5 Zornitza Stark Tag for review was removed from gene: CLN5.
Genomic newborn screening: BabyScreen+ v0.728 CLN3 Zornitza Stark Tag for review was removed from gene: CLN3.
Genomic newborn screening: BabyScreen+ v0.727 VHL Zornitza Stark Tag for review was removed from gene: VHL.
Tag treatable tag was added to gene: VHL.
Genomic newborn screening: BabyScreen+ v0.725 UROD Zornitza Stark Tag for review was removed from gene: UROD.
Genomic newborn screening: BabyScreen+ v0.725 SI Zornitza Stark Tag for review was removed from gene: SI.
Genomic newborn screening: BabyScreen+ v0.724 SFTPC Zornitza Stark Tag for review was removed from gene: SFTPC.
Genomic newborn screening: BabyScreen+ v0.723 SCN3A Zornitza Stark Tag for review was removed from gene: SCN3A.
Tag treatable was removed from gene: SCN3A.
Genomic newborn screening: BabyScreen+ v0.722 SCN2A Zornitza Stark Tag for review was removed from gene: SCN2A.
Tag treatable was removed from gene: SCN2A.
Genomic newborn screening: BabyScreen+ v0.721 SCN1A Zornitza Stark Tag for review was removed from gene: SCN1A.
Tag treatable was removed from gene: SCN1A.
Genomic newborn screening: BabyScreen+ v0.721 PCBD1 Zornitza Stark Tag for review was removed from gene: PCBD1.
Genomic newborn screening: BabyScreen+ v0.721 OTOGL Zornitza Stark Tag for review was removed from gene: OTOGL.
Genomic newborn screening: BabyScreen+ v0.721 NPC1 Zornitza Stark Tag for review was removed from gene: NPC1.
Genomic newborn screening: BabyScreen+ v0.720 MYO6 Zornitza Stark Mode of inheritance for gene: MYO6 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.715 SLC16A2 Seb Lunke Tag clinical trial tag was added to gene: SLC16A2.
Genomic newborn screening: BabyScreen+ v0.711 SLC12A3 Seb Lunke Tag for review tag was added to gene: SLC12A3.
Genomic newborn screening: BabyScreen+ v0.702 SI Seb Lunke Tag for review tag was added to gene: SI.
Genomic newborn screening: BabyScreen+ v0.686 COL13A1 Zornitza Stark Tag treatable tag was added to gene: COL13A1.
Genomic newborn screening: BabyScreen+ v0.684 COL11A2 Zornitza Stark Mode of inheritance for gene: COL11A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.681 COL11A1 Zornitza Stark Tag for review tag was added to gene: COL11A1.
Genomic newborn screening: BabyScreen+ v0.679 OXCT1 Zornitza Stark Tag treatable tag was added to gene: OXCT1.
Genomic newborn screening: BabyScreen+ v0.678 OTOGL Zornitza Stark Tag for review tag was added to gene: OTOGL.
Genomic newborn screening: BabyScreen+ v0.676 OTOA Zornitza Stark Tag SV/CNV tag was added to gene: OTOA.
Genomic newborn screening: BabyScreen+ v0.676 OTC Zornitza Stark Tag treatable tag was added to gene: OTC.
Genomic newborn screening: BabyScreen+ v0.669 UNC13D Zornitza Stark Tag treatable tag was added to gene: UNC13D.
Genomic newborn screening: BabyScreen+ v0.669 UROD Zornitza Stark Tag for review tag was added to gene: UROD.
Genomic newborn screening: BabyScreen+ v0.669 SFTPC Zornitza Stark Tag for review tag was added to gene: SFTPC.
Genomic newborn screening: BabyScreen+ v0.669 CDH23 Zornitza Stark Tag for review was removed from gene: CDH23.
Genomic newborn screening: BabyScreen+ v0.667 MEN1 Zornitza Stark Tag for review was removed from gene: MEN1.
Genomic newborn screening: BabyScreen+ v0.667 MEFV Zornitza Stark Tag for review was removed from gene: MEFV.
Tag treatable tag was added to gene: MEFV.
Genomic newborn screening: BabyScreen+ v0.666 MAGI2 Zornitza Stark Mode of inheritance for gene: MAGI2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.664 MAGI2 Zornitza Stark Tag for review was removed from gene: MAGI2.
Genomic newborn screening: BabyScreen+ v0.664 LRP5 Zornitza Stark Tag for review was removed from gene: LRP5.
Genomic newborn screening: BabyScreen+ v0.664 FUCA1 Zornitza Stark Tag for review was removed from gene: FUCA1.
Genomic newborn screening: BabyScreen+ v0.664 ETFB Zornitza Stark Tag for review was removed from gene: ETFB.
Genomic newborn screening: BabyScreen+ v0.663 LRP4 Zornitza Stark Tag for review was removed from gene: LRP4.
Genomic newborn screening: BabyScreen+ v0.663 LDLR Zornitza Stark Mode of inheritance for gene: LDLR was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.662 L1CAM Zornitza Stark Tag for review was removed from gene: L1CAM.
Genomic newborn screening: BabyScreen+ v0.662 G6PD Zornitza Stark Tag review was removed from gene: G6PD.
Genomic newborn screening: BabyScreen+ v0.661 GATA4 Zornitza Stark Tag for review was removed from gene: GATA4.
Genomic newborn screening: BabyScreen+ v0.661 FLAD1 Zornitza Stark Tag for review was removed from gene: FLAD1.
Genomic newborn screening: BabyScreen+ v0.661 DPAGT1 Zornitza Stark Tag for review was removed from gene: DPAGT1.
Genomic newborn screening: BabyScreen+ v0.659 COCH Zornitza Stark Mode of inheritance for gene: COCH was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.650 CLCN7 Zornitza Stark Tag treatable tag was added to gene: CLCN7.
Genomic newborn screening: BabyScreen+ v0.630 SERPINA1 Seb Lunke Tag for review tag was added to gene: SERPINA1.
Genomic newborn screening: BabyScreen+ v0.624 SELENON Seb Lunke Mode of inheritance for gene: SELENON was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.617 VDR Zornitza Stark Tag treatable tag was added to gene: VDR.
Genomic newborn screening: BabyScreen+ v0.615 VHL Zornitza Stark Tag for review tag was added to gene: VHL.
Genomic newborn screening: BabyScreen+ v0.611 CDSN Zornitza Stark Mode of inheritance for gene: CDSN was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.606 CDH23 Zornitza Stark Tag for review tag was added to gene: CDH23.
Genomic newborn screening: BabyScreen+ v0.606 GATA4 Alison Yeung Tag for review tag was added to gene: GATA4.
Genomic newborn screening: BabyScreen+ v0.606 G6PD Alison Yeung Tag review tag was added to gene: G6PD.
Genomic newborn screening: BabyScreen+ v0.605 DDR2 Zornitza Stark Mode of inheritance for gene: DDR2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.604 CD79B Zornitza Stark Tag treatable tag was added to gene: CD79B.
Genomic newborn screening: BabyScreen+ v0.603 CD79A Zornitza Stark Tag treatable tag was added to gene: CD79A.
Genomic newborn screening: BabyScreen+ v0.602 CD40LG Zornitza Stark Tag treatable tag was added to gene: CD40LG.
Genomic newborn screening: BabyScreen+ v0.602 CD3D Zornitza Stark Tag treatable tag was added to gene: CD3D.
Genomic newborn screening: BabyScreen+ v0.592 ARSA Zornitza Stark Tag for review was removed from gene: ARSA.
Genomic newborn screening: BabyScreen+ v0.592 GCK Zornitza Stark Mode of inheritance for gene: GCK was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.590 G6PC Zornitza Stark Tag treatable tag was added to gene: G6PC.
Genomic newborn screening: BabyScreen+ v0.588 FUCA1 Zornitza Stark Tag for review tag was added to gene: FUCA1.
Tag treatable tag was added to gene: FUCA1.
Genomic newborn screening: BabyScreen+ v0.587 CYP21A2 Zornitza Stark Tag for review was removed from gene: CYP21A2.
Genomic newborn screening: BabyScreen+ v0.587 CYP11A1 Zornitza Stark Tag for review was removed from gene: CYP11A1.
Genomic newborn screening: BabyScreen+ v0.585 CAVIN1 Zornitza Stark Tag for review was removed from gene: CAVIN1.
Genomic newborn screening: BabyScreen+ v0.585 BSCL2 Zornitza Stark Tag for review was removed from gene: BSCL2.
Genomic newborn screening: BabyScreen+ v0.585 BCHE Zornitza Stark Tag for review was removed from gene: BCHE.
Tag pharmacogenomic tag was added to gene: BCHE.
Genomic newborn screening: BabyScreen+ v0.585 ATP7B Zornitza Stark Tag for review was removed from gene: ATP7B.
Genomic newborn screening: BabyScreen+ v0.585 ATP7A Zornitza Stark Tag for review was removed from gene: ATP7A.
Genomic newborn screening: BabyScreen+ v0.585 ATP6V1B1 Zornitza Stark Tag for review was removed from gene: ATP6V1B1.
Genomic newborn screening: BabyScreen+ v0.585 ATP6V0A4 Zornitza Stark Tag for review was removed from gene: ATP6V0A4.
Genomic newborn screening: BabyScreen+ v0.585 AMN Zornitza Stark Tag for review was removed from gene: AMN.
Genomic newborn screening: BabyScreen+ v0.585 AKR1D1 Zornitza Stark Tag for review was removed from gene: AKR1D1.
Genomic newborn screening: BabyScreen+ v0.585 AIRE Zornitza Stark Tag for review was removed from gene: AIRE.
Genomic newborn screening: BabyScreen+ v0.585 AGXT Zornitza Stark Tag for review was removed from gene: AGXT.
Genomic newborn screening: BabyScreen+ v0.585 ABCD1 Zornitza Stark Tag for review was removed from gene: ABCD1.
Genomic newborn screening: BabyScreen+ v0.585 AAAS Zornitza Stark Tag for review was removed from gene: AAAS.
Genomic newborn screening: BabyScreen+ v0.583 FLAD1 Zornitza Stark Tag for review tag was added to gene: FLAD1.
Tag treatable tag was added to gene: FLAD1.
Genomic newborn screening: BabyScreen+ v0.577 CAVIN1 Zornitza Stark Tag treatable tag was added to gene: CAVIN1.
Genomic newborn screening: BabyScreen+ v0.575 CAVIN1 Zornitza Stark Tag for review tag was added to gene: CAVIN1.
Genomic newborn screening: BabyScreen+ v0.570 CASQ2 Zornitza Stark Mode of inheritance for gene: CASQ2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.568 CASQ2 Zornitza Stark Tag for review tag was added to gene: CASQ2.
Tag treatable tag was added to gene: CASQ2.
Genomic newborn screening: BabyScreen+ v0.567 CASK Zornitza Stark Mode of inheritance for gene: CASK was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.561 CA2 Zornitza Stark Tag treatable tag was added to gene: CA2.
Genomic newborn screening: BabyScreen+ v0.554 SDHD Zornitza Stark Mode of inheritance for gene: SDHD was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.553 SCNN1A Zornitza Stark Tag treatable tag was added to gene: SCNN1A.
Genomic newborn screening: BabyScreen+ v0.553 SCN8A Zornitza Stark Tag for review tag was added to gene: SCN8A.
Genomic newborn screening: BabyScreen+ v0.553 GATA3 Zornitza Stark Tag treatable tag was added to gene: GATA3.
Genomic newborn screening: BabyScreen+ v0.552 GATA2 Zornitza Stark Tag treatable tag was added to gene: GATA2.
Genomic newborn screening: BabyScreen+ v0.550 GAMT Zornitza Stark Tag treatable tag was added to gene: GAMT.
Genomic newborn screening: BabyScreen+ v0.549 GALNS Zornitza Stark Tag treatable tag was added to gene: GALNS.
Genomic newborn screening: BabyScreen+ v0.548 GALC Zornitza Stark Tag treatable tag was added to gene: GALC.
Genomic newborn screening: BabyScreen+ v0.547 SDHD Seb Lunke Mode of inheritance for gene: SDHD was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.545 C9 Zornitza Stark Tag treatable tag was added to gene: C9.
Genomic newborn screening: BabyScreen+ v0.544 C7 Zornitza Stark Tag treatable tag was added to gene: C7.
Genomic newborn screening: BabyScreen+ v0.541 C6 Zornitza Stark Tag treatable tag was added to gene: C6.
Genomic newborn screening: BabyScreen+ v0.541 FH Zornitza Stark Tag treatable tag was added to gene: FH.
Genomic newborn screening: BabyScreen+ v0.541 FAH Zornitza Stark Tag treatable tag was added to gene: FAH.
Genomic newborn screening: BabyScreen+ v0.541 ETHE1 Zornitza Stark Tag treatable tag was added to gene: ETHE1.
Genomic newborn screening: BabyScreen+ v0.540 DPAGT1 Zornitza Stark Tag for review tag was added to gene: DPAGT1.
Genomic newborn screening: BabyScreen+ v0.536 DHCR7 Zornitza Stark Tag for review tag was added to gene: DHCR7.
Genomic newborn screening: BabyScreen+ v0.534 DGUOK Zornitza Stark Tag for review tag was added to gene: DGUOK.
Genomic newborn screening: BabyScreen+ v0.534 DDC Zornitza Stark Tag treatable tag was added to gene: DDC.
Tag clinical trial tag was added to gene: DDC.
Genomic newborn screening: BabyScreen+ v0.534 DGAT1 Zornitza Stark Tag treatable tag was added to gene: DGAT1.
Genomic newborn screening: BabyScreen+ v0.531 CYP27B1 Zornitza Stark Tag treatable tag was added to gene: CYP27B1.
Genomic newborn screening: BabyScreen+ v0.529 CYP27A1 Zornitza Stark Tag for review tag was added to gene: CYP27A1.
Tag treatable tag was added to gene: CYP27A1.
Genomic newborn screening: BabyScreen+ v0.529 CYP17A1 Zornitza Stark Tag treatable tag was added to gene: CYP17A1.
Genomic newborn screening: BabyScreen+ v0.529 CYP11B2 Zornitza Stark Tag treatable tag was added to gene: CYP11B2.
Genomic newborn screening: BabyScreen+ v0.529 CYP11A1 Zornitza Stark Tag for review tag was added to gene: CYP11A1.
Tag treatable tag was added to gene: CYP11A1.
Genomic newborn screening: BabyScreen+ v0.528 CYP11B1 Zornitza Stark Tag treatable tag was added to gene: CYP11B1.
Genomic newborn screening: BabyScreen+ v0.528 CUBN Zornitza Stark Tag treatable tag was added to gene: CUBN.
Genomic newborn screening: BabyScreen+ v0.525 CTNS Zornitza Stark Tag treatable tag was added to gene: CTNS.
Genomic newborn screening: BabyScreen+ v0.524 CPS1 Zornitza Stark Tag treatable tag was added to gene: CPS1.
Genomic newborn screening: BabyScreen+ v0.524 COQ9 Zornitza Stark Tag for review tag was added to gene: COQ9.
Genomic newborn screening: BabyScreen+ v0.523 SCN3A Zornitza Stark Tag for review tag was added to gene: SCN3A.
Tag treatable tag was added to gene: SCN3A.
Genomic newborn screening: BabyScreen+ v0.523 SCN2A Zornitza Stark Tag for review tag was added to gene: SCN2A.
Tag treatable tag was added to gene: SCN2A.
Genomic newborn screening: BabyScreen+ v0.523 SCN1A Zornitza Stark Tag for review tag was added to gene: SCN1A.
Genomic newborn screening: BabyScreen+ v0.523 SCN1A Zornitza Stark Tag treatable tag was added to gene: SCN1A.
Genomic newborn screening: BabyScreen+ v0.519 VPS45 Zornitza Stark Tag treatable tag was added to gene: VPS45.
Genomic newborn screening: BabyScreen+ v0.519 WAS Zornitza Stark Marked gene: WAS as ready
Genomic newborn screening: BabyScreen+ v0.519 WAS Zornitza Stark Gene: was has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.519 WAS Zornitza Stark Publications for gene: WAS were set to
Genomic newborn screening: BabyScreen+ v0.508 XIAP Zornitza Stark Tag treatable tag was added to gene: XIAP.
Genomic newborn screening: BabyScreen+ v0.503 WAS Lilian Downie reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301357; Phenotypes: Wiskott-Aldrich syndrome MIM#301000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.502 GAA Zornitza Stark Tag treatable tag was added to gene: GAA.
Genomic newborn screening: BabyScreen+ v0.502 SBDS Zornitza Stark Tag treatable tag was added to gene: SBDS.
Genomic newborn screening: BabyScreen+ v0.502 SAMHD1 Zornitza Stark Tag treatable tag was added to gene: SAMHD1.
Genomic newborn screening: BabyScreen+ v0.497 C5 Zornitza Stark Tag treatable tag was added to gene: C5.
Genomic newborn screening: BabyScreen+ v0.494 BSND Zornitza Stark Tag treatable tag was added to gene: BSND.
Genomic newborn screening: BabyScreen+ v0.493 BSCL2 Zornitza Stark Tag for review tag was added to gene: BSCL2.
Tag treatable tag was added to gene: BSCL2.
Genomic newborn screening: BabyScreen+ v0.490 BRIP1 Zornitza Stark Tag treatable tag was added to gene: BRIP1.
Genomic newborn screening: BabyScreen+ v0.489 BMPR1A Zornitza Stark Tag for review tag was added to gene: BMPR1A.
Genomic newborn screening: BabyScreen+ v0.485 ACAD9 Zornitza Stark Tag treatable tag was added to gene: ACAD9.
Genomic newborn screening: BabyScreen+ v0.476 OPA1 Zornitza Stark Mode of inheritance for gene: OPA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.469 OCA2 Zornitza Stark Mode of inheritance for gene: OCA2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.461 NR5A1 Zornitza Stark Tag treatable tag was added to gene: NR5A1.
Genomic newborn screening: BabyScreen+ v0.460 NR0B1 Zornitza Stark Tag treatable tag was added to gene: NR0B1.
Genomic newborn screening: BabyScreen+ v0.450 NPC1 Zornitza Stark Tag for review tag was added to gene: NPC1.
Genomic newborn screening: BabyScreen+ v0.443 NNT Zornitza Stark Tag treatable tag was added to gene: NNT.
Genomic newborn screening: BabyScreen+ v0.436 NHEJ1 Zornitza Stark Tag treatable tag was added to gene: NHEJ1.
Genomic newborn screening: BabyScreen+ v0.430 NEUROG3 Zornitza Stark Tag treatable tag was added to gene: NEUROG3.
Genomic newborn screening: BabyScreen+ v0.425 NEFL Zornitza Stark Mode of inheritance for gene: NEFL was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.418 NCF2 Zornitza Stark Tag treatable tag was added to gene: NCF2.
Genomic newborn screening: BabyScreen+ v0.417 NCF1 Zornitza Stark Tag treatable tag was added to gene: NCF1.
Genomic newborn screening: BabyScreen+ v0.416 NBN Zornitza Stark Tag for review tag was added to gene: NBN.
Genomic newborn screening: BabyScreen+ v0.416 NAGS Zornitza Stark Tag treatable tag was added to gene: NAGS.
Genomic newborn screening: BabyScreen+ v0.415 NAGLU Zornitza Stark Tag treatable tag was added to gene: NAGLU.
Genomic newborn screening: BabyScreen+ v0.410 MYO6 Zornitza Stark Mode of inheritance for gene: MYO6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.409 MYO6 Zornitza Stark Tag for review tag was added to gene: MYO6.
Genomic newborn screening: BabyScreen+ v0.404 MYH7 Zornitza Stark Mode of inheritance for gene: MYH7 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.401 MYH3 Zornitza Stark Mode of inheritance for gene: MYH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.389 MVK Zornitza Stark Tag treatable tag was added to gene: MVK.
Genomic newborn screening: BabyScreen+ v0.388 XPA Zornitza Stark Tag treatable tag was added to gene: XPA.
Tag clinical trial tag was added to gene: XPA.
Genomic newborn screening: BabyScreen+ v0.386 XPC Zornitza Stark Tag treatable tag was added to gene: XPC.
Tag clinical trial tag was added to gene: XPC.
Genomic newborn screening: BabyScreen+ v0.384 MYSM1 Zornitza Stark Tag treatable tag was added to gene: MYSM1.
Genomic newborn screening: BabyScreen+ v0.384 MUSK Zornitza Stark Tag treatable tag was added to gene: MUSK.
Genomic newborn screening: BabyScreen+ v0.383 MTTP Zornitza Stark Tag treatable tag was added to gene: MTTP.
Genomic newborn screening: BabyScreen+ v0.380 MRAP Zornitza Stark Tag treatable tag was added to gene: MRAP.
Genomic newborn screening: BabyScreen+ v0.375 MPZ Zornitza Stark Mode of inheritance for gene: MPZ was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.371 MPL Zornitza Stark Tag treatable tag was added to gene: MPL.
Genomic newborn screening: BabyScreen+ v0.362 MOCS1 Zornitza Stark Tag treatable tag was added to gene: MOCS1.
Genomic newborn screening: BabyScreen+ v0.362 MLYCD Zornitza Stark Tag treatable tag was added to gene: MLYCD.
Genomic newborn screening: BabyScreen+ v0.359 ZAP70 Zornitza Stark Tag treatable tag was added to gene: ZAP70.
Genomic newborn screening: BabyScreen+ v0.337 LAMB3 Zornitza Stark Mode of inheritance for gene: LAMB3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.332 MITF Zornitza Stark Mode of inheritance for gene: MITF was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.324 MFN2 Zornitza Stark Mode of inheritance for gene: MFN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.321 MEN1 Zornitza Stark Tag for review tag was added to gene: MEN1.
Genomic newborn screening: BabyScreen+ v0.318 MEFV Zornitza Stark Tag for review tag was added to gene: MEFV.
Genomic newborn screening: BabyScreen+ v0.314 MECP2 Zornitza Stark Mode of inheritance for gene: MECP2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.310 COQ8B Zornitza Stark Tag for review tag was added to gene: COQ8B.
Genomic newborn screening: BabyScreen+ v0.309 COQ8A Zornitza Stark Tag treatable tag was added to gene: COQ8A.
Genomic newborn screening: BabyScreen+ v0.309 COQ7 Zornitza Stark Tag for review tag was added to gene: COQ7.
Genomic newborn screening: BabyScreen+ v0.309 COQ4 Zornitza Stark Tag treatable tag was added to gene: COQ4.
Genomic newborn screening: BabyScreen+ v0.309 COLQ Zornitza Stark Tag treatable tag was added to gene: COLQ.
Tag clinical trial tag was added to gene: COLQ.
Genomic newborn screening: BabyScreen+ v0.302 CLN6 Zornitza Stark Tag for review tag was added to gene: CLN6.
Tag clinical trial tag was added to gene: CLN6.
Genomic newborn screening: BabyScreen+ v0.300 CLN5 Zornitza Stark Tag for review tag was added to gene: CLN5.
Tag clinical trial tag was added to gene: CLN5.
Genomic newborn screening: BabyScreen+ v0.298 CLN3 Zornitza Stark Tag for review tag was added to gene: CLN3.
Tag clinical trial tag was added to gene: CLN3.
Genomic newborn screening: BabyScreen+ v0.292 SLC5A2 Zornitza Stark Mode of inheritance for gene: SLC5A2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.288 CHRNA1 Zornitza Stark Tag treatable tag was added to gene: CHRNA1.
Genomic newborn screening: BabyScreen+ v0.288 CHAT Zornitza Stark Tag treatable tag was added to gene: CHAT.
Genomic newborn screening: BabyScreen+ v0.288 CA5A Zornitza Stark Tag treatable tag was added to gene: CA5A.
Genomic newborn screening: BabyScreen+ v0.288 BTK Zornitza Stark Tag treatable tag was added to gene: BTK.
Genomic newborn screening: BabyScreen+ v0.286 BCKDK Zornitza Stark Tag treatable tag was added to gene: BCKDK.
Genomic newborn screening: BabyScreen+ v0.286 BCHE Zornitza Stark Tag for review tag was added to gene: BCHE.
Genomic newborn screening: BabyScreen+ v0.281 ATP7B Zornitza Stark Tag for review tag was added to gene: ATP7B.
Genomic newborn screening: BabyScreen+ v0.281 ASL Zornitza Stark Tag treatable tag was added to gene: ASL.
Genomic newborn screening: BabyScreen+ v0.279 ARSB Zornitza Stark Tag treatable tag was added to gene: ARSB.
Tag clinical trial tag was added to gene: ARSB.
Genomic newborn screening: BabyScreen+ v0.279 ARG1 Zornitza Stark Tag treatable tag was added to gene: ARG1.
Genomic newborn screening: BabyScreen+ v0.279 AHCY Zornitza Stark Mode of inheritance for gene: AHCY was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.278 AHCY Zornitza Stark Tag treatable tag was added to gene: AHCY.
Genomic newborn screening: BabyScreen+ v0.276 SMN1 Zornitza Stark Tag for review tag was added to gene: SMN1.
Tag treatable tag was added to gene: SMN1.
Tag clinical trial tag was added to gene: SMN1.
Genomic newborn screening: BabyScreen+ v0.276 ACADVL Zornitza Stark Tag treatable tag was added to gene: ACADVL.
Genomic newborn screening: BabyScreen+ v0.276 GALE Zornitza Stark Tag treatable tag was added to gene: GALE.
Genomic newborn screening: BabyScreen+ v0.276 GALK1 Zornitza Stark Tag treatable tag was added to gene: GALK1.
Genomic newborn screening: BabyScreen+ v0.276 GALT Zornitza Stark Tag treatable tag was added to gene: GALT.
Genomic newborn screening: BabyScreen+ v0.276 TAT Zornitza Stark Tag treatable tag was added to gene: TAT.
Genomic newborn screening: BabyScreen+ v0.275 PCCB Zornitza Stark Tag treatable tag was added to gene: PCCB.
Genomic newborn screening: BabyScreen+ v0.275 PCCA Zornitza Stark Tag treatable tag was added to gene: PCCA.
Genomic newborn screening: BabyScreen+ v0.275 PCBD1 Zornitza Stark Tag for review tag was added to gene: PCBD1.
Genomic newborn screening: BabyScreen+ v0.275 QDPR Zornitza Stark Tag treatable tag was added to gene: QDPR.
Genomic newborn screening: BabyScreen+ v0.275 PTS Zornitza Stark Tag treatable tag was added to gene: PTS.
Genomic newborn screening: BabyScreen+ v0.275 PAH Zornitza Stark Tag treatable tag was added to gene: PAH.
Genomic newborn screening: BabyScreen+ v0.275 ETFB Zornitza Stark Tag for review tag was added to gene: ETFB.
Genomic newborn screening: BabyScreen+ v0.274 ETFA Zornitza Stark Tag treatable tag was added to gene: ETFA.
Genomic newborn screening: BabyScreen+ v0.272 ETFDH Zornitza Stark Tag treatable tag was added to gene: ETFDH.
Genomic newborn screening: BabyScreen+ v0.272 HADHB Zornitza Stark Tag treatable tag was added to gene: HADHB.
Genomic newborn screening: BabyScreen+ v0.271 HADHA Zornitza Stark Tag treatable tag was added to gene: HADHA.
Genomic newborn screening: BabyScreen+ v0.271 MMAB Zornitza Stark Tag treatable tag was added to gene: MMAB.
Genomic newborn screening: BabyScreen+ v0.271 MMAA Zornitza Stark Tag treatable tag was added to gene: MMAA.
Genomic newborn screening: BabyScreen+ v0.270 MUT Zornitza Stark Tag treatable tag was added to gene: MUT.
Genomic newborn screening: BabyScreen+ v0.270 ACADM Zornitza Stark Tag treatable tag was added to gene: ACADM.
Genomic newborn screening: BabyScreen+ v0.270 IVD Zornitza Stark Tag treatable tag was added to gene: IVD.
Genomic newborn screening: BabyScreen+ v0.270 BTD Zornitza Stark Tag treatable tag was added to gene: BTD.
Genomic newborn screening: BabyScreen+ v0.270 HLCS Zornitza Stark Tag treatable tag was added to gene: HLCS.
Genomic newborn screening: BabyScreen+ v0.270 GCDH Zornitza Stark Tag treatable tag was added to gene: GCDH.
Genomic newborn screening: BabyScreen+ v0.270 CBS Zornitza Stark Tag for review tag was added to gene: CBS.
Genomic newborn screening: BabyScreen+ v0.268 CBS Zornitza Stark Tag treatable tag was added to gene: CBS.
Genomic newborn screening: BabyScreen+ v0.268 CFTR Zornitza Stark Tag treatable tag was added to gene: CFTR.
Genomic newborn screening: BabyScreen+ v0.268 CYP21A2 Zornitza Stark Tag for review tag was added to gene: CYP21A2.
Genomic newborn screening: BabyScreen+ v0.268 MMADHC Zornitza Stark Tag treatable tag was added to gene: MMADHC.
Genomic newborn screening: BabyScreen+ v0.268 MMACHC Zornitza Stark Tag treatable tag was added to gene: MMACHC.
Genomic newborn screening: BabyScreen+ v0.268 SLC25A20 Zornitza Stark Tag treatable tag was added to gene: SLC25A20.
Genomic newborn screening: BabyScreen+ v0.268 SLC22A5 Zornitza Stark Tag treatable tag was added to gene: SLC22A5.
Genomic newborn screening: BabyScreen+ v0.267 MT-RNR1 Zornitza Stark gene: MT-RNR1 was added
gene: MT-RNR1 was added to gNBS. Sources: Expert Review
pharmacogenomic tags were added to gene: MT-RNR1.
Mode of inheritance for gene gene: MT-RNR1 was set to MITOCHONDRIAL
Phenotypes for gene: MT-RNR1 were set to Aminoglycoside sensitivity
Review for gene: MT-RNR1 was set to GREEN
Added comment: The following variants have been associated with aminoglycoside-induced deafness:
m.1555A>G
m.1005T>C
m.1095T>C

Alerts can be placed in medical records to avoid aminoglycoside administration.
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.265 MCFD2 Zornitza Stark Tag for review tag was added to gene: MCFD2.
Genomic newborn screening: BabyScreen+ v0.265 MC2R Zornitza Stark Tag treatable tag was added to gene: MC2R.
Genomic newborn screening: BabyScreen+ v0.257 MAN2B1 Zornitza Stark Tag treatable tag was added to gene: MAN2B1.
Genomic newborn screening: BabyScreen+ v0.257 MAGI2 Zornitza Stark Tag for review tag was added to gene: MAGI2.
Genomic newborn screening: BabyScreen+ v0.255 MAFB Zornitza Stark Tag for review tag was added to gene: MAFB.
Genomic newborn screening: BabyScreen+ v0.253 LYST Zornitza Stark Tag treatable tag was added to gene: LYST.
Genomic newborn screening: BabyScreen+ v0.247 LRSAM1 Zornitza Stark Mode of inheritance for gene: LRSAM1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.242 LRP5 Zornitza Stark Mode of inheritance for gene: LRP5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.241 LRP5 Zornitza Stark Tag for review tag was added to gene: LRP5.
Genomic newborn screening: BabyScreen+ v0.240 LRP4 Zornitza Stark Tag for review tag was added to gene: LRP4.
Genomic newborn screening: BabyScreen+ v0.233 LMBRD1 Zornitza Stark Tag treatable tag was added to gene: LMBRD1.
Genomic newborn screening: BabyScreen+ v0.232 LITAF Zornitza Stark Mode of pathogenicity for gene: LITAF was changed from to None
Genomic newborn screening: BabyScreen+ v0.229 LIPA Zornitza Stark Tag treatable tag was added to gene: LIPA.
Genomic newborn screening: BabyScreen+ v0.226 LHX4 Zornitza Stark Mode of inheritance for gene: LHX4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.225 LHX4 Zornitza Stark Tag treatable tag was added to gene: LHX4.
Genomic newborn screening: BabyScreen+ v0.225 LHX3 Zornitza Stark Tag treatable tag was added to gene: LHX3.
Genomic newborn screening: BabyScreen+ v0.223 LEPR Zornitza Stark Tag clinical trial tag was added to gene: LEPR.
Genomic newborn screening: BabyScreen+ v0.222 LEPR Zornitza Stark Tag treatable tag was added to gene: LEPR.
Genomic newborn screening: BabyScreen+ v0.219 LDLR Zornitza Stark Mode of inheritance for gene: LDLR was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.218 LDLR Zornitza Stark Tag for review tag was added to gene: LDLR.
Genomic newborn screening: BabyScreen+ v0.213 LAMP2 Zornitza Stark Mode of inheritance for gene: LAMP2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.211 LAMP2 Zornitza Stark Tag for review tag was added to gene: LAMP2.
Genomic newborn screening: BabyScreen+ v0.205 LAMA2 Zornitza Stark Tag for review tag was added to gene: LAMA2.
Genomic newborn screening: BabyScreen+ v0.205 L1CAM Zornitza Stark Tag for review tag was added to gene: L1CAM.
Genomic newborn screening: BabyScreen+ v0.203 CPT2 Zornitza Stark Tag treatable tag was added to gene: CPT2.
Genomic newborn screening: BabyScreen+ v0.202 CPT1A Zornitza Stark Tag treatable tag was added to gene: CPT1A.
Genomic newborn screening: BabyScreen+ v0.201 BCKDHB Zornitza Stark Tag treatable tag was added to gene: BCKDHB.
Genomic newborn screening: BabyScreen+ v0.200 BCKDHA Zornitza Stark Tag treatable tag was added to gene: BCKDHA.
Genomic newborn screening: BabyScreen+ v0.200 DBT Zornitza Stark Tag treatable tag was added to gene: DBT.
Genomic newborn screening: BabyScreen+ v0.200 HMGCL Zornitza Stark Tag treatable tag was added to gene: HMGCL.
Genomic newborn screening: BabyScreen+ v0.200 ASS1 Zornitza Stark Tag treatable tag was added to gene: ASS1.
Genomic newborn screening: BabyScreen+ v0.197 BLNK Zornitza Stark Tag treatable tag was added to gene: BLNK.
Genomic newborn screening: BabyScreen+ v0.193 BICD2 Zornitza Stark Mode of inheritance for gene: BICD2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.188 ACVRL1 Zornitza Stark Tag for review tag was added to gene: ACVRL1.
Genomic newborn screening: BabyScreen+ v0.184 ACVR1 Zornitza Stark Tag for review tag was added to gene: ACVR1.
Tag clinical trial tag was added to gene: ACVR1.
Genomic newborn screening: BabyScreen+ v0.182 ACOX1 Zornitza Stark Mode of inheritance for gene: ACOX1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.179 ALDOB Zornitza Stark Tag treatable tag was added to gene: ALDOB.
Genomic newborn screening: BabyScreen+ v0.177 ATP2B2 Zornitza Stark Tag for review tag was added to gene: ATP2B2.
Genomic newborn screening: BabyScreen+ v0.175 ATP1A2 Zornitza Stark Mode of inheritance for gene: ATP1A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.173 ALG9 Zornitza Stark Mode of inheritance for gene: ALG9 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.161 ATP7A Zornitza Stark Tag for review tag was added to gene: ATP7A.
Tag treatable tag was added to gene: ATP7A.
Genomic newborn screening: BabyScreen+ v0.138 ATP6V1B1 Zornitza Stark Tag for review tag was added to gene: ATP6V1B1.
Tag treatable tag was added to gene: ATP6V1B1.
Genomic newborn screening: BabyScreen+ v0.138 ATP6V0A4 Zornitza Stark Tag for review tag was added to gene: ATP6V0A4.
Tag treatable tag was added to gene: ATP6V0A4.
Genomic newborn screening: BabyScreen+ v0.125 ARSA Zornitza Stark Tag for review tag was added to gene: ARSA.
Tag treatable tag was added to gene: ARSA.
Tag clinical trial tag was added to gene: ARSA.
Genomic newborn screening: BabyScreen+ v0.125 ARPC1B Zornitza Stark Tag treatable tag was added to gene: ARPC1B.
Genomic newborn screening: BabyScreen+ v0.119 AVPR2 Zornitza Stark Tag SV/CNV tag was added to gene: AVPR2.
Genomic newborn screening: BabyScreen+ v0.118 AVP Zornitza Stark gene: AVP was added
gene: AVP was added to gNBS. Sources: Expert Review
treatable, clinical trial tags were added to gene: AVP.
Mode of inheritance for gene: AVP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AVP were set to 32052034; 31238300
Phenotypes for gene: AVP were set to Diabetes insipidus, neurohypophyseal MIM#125700
Review for gene: AVP was set to GREEN
Added comment: Well established gene-disease association.

Onset in childhood with polydipsia and polyuria. Can be life-threatening.

Treatment: DDAVP.
Clinical trials.
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.117 AVPR2 Zornitza Stark Tag treatable tag was added to gene: AVPR2.
Tag clinical trial tag was added to gene: AVPR2.
Genomic newborn screening: BabyScreen+ v0.116 AQP2 Zornitza Stark Tag treatable tag was added to gene: AQP2.
Tag clinical trial tag was added to gene: AQP2.
Genomic newborn screening: BabyScreen+ v0.116 AMN Zornitza Stark Tag treatable tag was added to gene: AMN.
Genomic newborn screening: BabyScreen+ v0.112 APRT Zornitza Stark Tag for review tag was added to gene: APRT.
Tag treatable tag was added to gene: APRT.
Genomic newborn screening: BabyScreen+ v0.110 APOB Zornitza Stark Mode of inheritance for gene: APOB was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.108 APOB Zornitza Stark Tag for review tag was added to gene: APOB.
Tag treatable tag was added to gene: APOB.
Genomic newborn screening: BabyScreen+ v0.103 APC Zornitza Stark Tag treatable tag was added to gene: APC.
Genomic newborn screening: BabyScreen+ v0.103 APC Zornitza Stark Tag for review tag was added to gene: APC.
Genomic newborn screening: BabyScreen+ v0.99 AP3B1 Zornitza Stark Tag treatable tag was added to gene: AP3B1.
Tag clinical trial tag was added to gene: AP3B1.
Genomic newborn screening: BabyScreen+ v0.87 ANK1 Zornitza Stark Mode of inheritance for gene: ANK1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.83 AMN Zornitza Stark Tag for review tag was added to gene: AMN.
Genomic newborn screening: BabyScreen+ v0.81 ALPL Zornitza Stark Tag treatable tag was added to gene: ALPL.
Genomic newborn screening: BabyScreen+ v0.78 ALX4 Zornitza Stark Mode of inheritance for gene: ALX4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.68 ALG14 Zornitza Stark Tag for review tag was added to gene: ALG14.
Genomic newborn screening: BabyScreen+ v0.65 ADAMTS13 Zornitza Stark Tag treatable tag was added to gene: ADAMTS13.
Genomic newborn screening: BabyScreen+ v0.65 AK2 Zornitza Stark Tag treatable tag was added to gene: AK2.
Genomic newborn screening: BabyScreen+ v0.62 AGRN Zornitza Stark Tag clinical trial tag was added to gene: AGRN.
Genomic newborn screening: BabyScreen+ v0.62 AGRN Zornitza Stark Tag treatable tag was added to gene: AGRN.
Genomic newborn screening: BabyScreen+ v0.60 ADA Zornitza Stark Tag treatable tag was added to gene: ADA.
Tag clinical trial tag was added to gene: ADA.
Genomic newborn screening: BabyScreen+ v0.57 ABCG5 Zornitza Stark Tag treatable tag was added to gene: ABCG5.
Tag clinical trial tag was added to gene: ABCG5.
Genomic newborn screening: BabyScreen+ v0.57 ABCD1 Zornitza Stark Tag for review tag was added to gene: ABCD1.
Genomic newborn screening: BabyScreen+ v0.56 ABCD1 Zornitza Stark Tag treatable tag was added to gene: ABCD1.
Genomic newborn screening: BabyScreen+ v0.56 ABCC6 Zornitza Stark Tag for review tag was added to gene: ABCC6.
Genomic newborn screening: BabyScreen+ v0.55 ABCC6 Zornitza Stark Tag treatable tag was added to gene: ABCC6.
Genomic newborn screening: BabyScreen+ v0.53 ABCB4 Zornitza Stark Mode of inheritance for gene: ABCB4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.42 AARS Zornitza Stark Mode of inheritance for gene: AARS was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.38 AAAS Zornitza Stark Tag for review tag was added to gene: AAAS.
Genomic newborn screening: BabyScreen+ v0.37 ALDH7A1 Zornitza Stark Tag treatable tag was added to gene: ALDH7A1.
Genomic newborn screening: BabyScreen+ v0.32 ALDH18A1 Zornitza Stark Mode of inheritance for gene: ALDH18A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.26 ALAS2 Zornitza Stark Tag for review tag was added to gene: ALAS2.
Genomic newborn screening: BabyScreen+ v0.26 AKR1D1 Zornitza Stark Tag for review tag was added to gene: AKR1D1.
Tag treatable tag was added to gene: AKR1D1.
Genomic newborn screening: BabyScreen+ v0.25 AIRE Zornitza Stark Tag for review tag was added to gene: AIRE.
Tag treatable tag was added to gene: AIRE.
Genomic newborn screening: BabyScreen+ v0.18 AGXT Zornitza Stark Tag for review tag was added to gene: AGXT.
Tag treatable tag was added to gene: AGXT.
Tag clinical trial tag was added to gene: AGXT.
Genomic newborn screening: BabyScreen+ v0.11 ADAR Zornitza Stark Mode of inheritance for gene: ADAR was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.9 ADAR Zornitza Stark Tag for review tag was added to gene: ADAR.
Tag treatable tag was added to gene: ADAR.
Tag clinical trial tag was added to gene: ADAR.
Genomic newborn screening: BabyScreen+ v0.0 ZNF674 Zornitza Stark gene: ZNF674 was added
gene: ZNF674 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ZNF674 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ZNF674 were set to Mental retardation
Genomic newborn screening: BabyScreen+ v0.0 ZNF252P Zornitza Stark gene: ZNF252P was added
gene: ZNF252P was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ZNF252P was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ZNF252P were set to Hypothyroidism
Genomic newborn screening: BabyScreen+ v0.0 ZFPM2 Zornitza Stark gene: ZFPM2 was added
gene: ZFPM2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ZFPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ZFPM2 were set to Tetralogy of Fallot
Genomic newborn screening: BabyScreen+ v0.0 YARS2 Zornitza Stark gene: YARS2 was added
gene: YARS2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: YARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: YARS2 were set to Myopathy, lactic acidosis, and sideroblastic anemia
Genomic newborn screening: BabyScreen+ v0.0 WNT7A Zornitza Stark gene: WNT7A was added
gene: WNT7A was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: WNT7A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNT7A were set to Ulna and fibula absence of with severe limb deficiency
Genomic newborn screening: BabyScreen+ v0.0 WNT5A Zornitza Stark gene: WNT5A was added
gene: WNT5A was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: WNT5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: WNT5A were set to Robinow syndrome
Genomic newborn screening: BabyScreen+ v0.0 WNT3 Zornitza Stark gene: WNT3 was added
gene: WNT3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: WNT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNT3 were set to Tetra-amelia, autosomal recessive
Genomic newborn screening: BabyScreen+ v0.0 WNK1 Zornitza Stark gene: WNK1 was added
gene: WNK1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: WNK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNK1 were set to Neuropathy, hereditary sensory and autonomic, type I
Genomic newborn screening: BabyScreen+ v0.0 WDR36 Zornitza Stark gene: WDR36 was added
gene: WDR36 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: WDR36 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: WDR36 were set to Glaucoma
Genomic newborn screening: BabyScreen+ v0.0 WDR35 Zornitza Stark gene: WDR35 was added
gene: WDR35 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: WDR35 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR35 were set to Cranioectodermal dysplasia
Genomic newborn screening: BabyScreen+ v0.0 WDR19 Zornitza Stark gene: WDR19 was added
gene: WDR19 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR19 were set to Nephronophthisis
Genomic newborn screening: BabyScreen+ v0.0 VSX1 Zornitza Stark gene: VSX1 was added
gene: VSX1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: VSX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: VSX1 were set to Keratoconus
Genomic newborn screening: BabyScreen+ v0.0 VPS53 Zornitza Stark gene: VPS53 was added
gene: VPS53 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: VPS53 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS53 were set to Progressive cerebello-cerebral atrophy
Genomic newborn screening: BabyScreen+ v0.0 VAMP1 Zornitza Stark Source Expert Review Red was added to VAMP1.
Source BabySeq Category C gene was added to VAMP1.
Mode of inheritance for gene VAMP1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Spastic ataxia for gene: VAMP1
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 UTP4 Zornitza Stark gene: UTP4 was added
gene: UTP4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: UTP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UTP4 were set to North American Indian childhood cirrhosis
Genomic newborn screening: BabyScreen+ v0.0 UQCRQ Zornitza Stark gene: UQCRQ was added
gene: UQCRQ was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: UQCRQ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCRQ were set to Mitochondrial complex III deficiency
Genomic newborn screening: BabyScreen+ v0.0 UQCRB Zornitza Stark gene: UQCRB was added
gene: UQCRB was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: UQCRB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCRB were set to Mitochondrial complex III deficiency
Genomic newborn screening: BabyScreen+ v0.0 UGT1A5 Zornitza Stark gene: UGT1A5 was added
gene: UGT1A5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: UGT1A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UGT1A5 were set to UDP glucuronosyltransferase deficiency
Genomic newborn screening: BabyScreen+ v0.0 UGT1A4 Zornitza Stark gene: UGT1A4 was added
gene: UGT1A4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: UGT1A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UGT1A4 were set to Crigler-Najjar syndrome
Genomic newborn screening: BabyScreen+ v0.0 UCP2 Zornitza Stark Source Expert Review Red was added to UCP2.
Source BabySeq Category C gene was added to UCP2.
Added phenotypes Hyperinsulinism for gene: UCP2
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 UBA1 Zornitza Stark gene: UBA1 was added
gene: UBA1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: UBA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: UBA1 were set to Spinal muscular atrophy, X-linked infantile
Genomic newborn screening: BabyScreen+ v0.0 TUBA8 Zornitza Stark gene: TUBA8 was added
gene: TUBA8 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TUBA8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TUBA8 were set to Polymicrogyria with optic nerve hypoplasia
Genomic newborn screening: BabyScreen+ v0.0 TSPYL1 Zornitza Stark gene: TSPYL1 was added
gene: TSPYL1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TSPYL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSPYL1 were set to Sudden infant death with dysgenesis of the testes syndrome
Genomic newborn screening: BabyScreen+ v0.0 TSPEAR Zornitza Stark gene: TSPEAR was added
gene: TSPEAR was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TSPEAR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSPEAR were set to Sensorineural deafness
Genomic newborn screening: BabyScreen+ v0.0 TSFM Zornitza Stark gene: TSFM was added
gene: TSFM was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency
Genomic newborn screening: BabyScreen+ v0.0 TRPM2 Zornitza Stark gene: TRPM2 was added
gene: TRPM2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TRPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TRPM2 were set to ALS and Parkinson's disease
Genomic newborn screening: BabyScreen+ v0.0 TRIP11 Zornitza Stark gene: TRIP11 was added
gene: TRIP11 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TRIP11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIP11 were set to Achondrogenesis type 1A
Genomic newborn screening: BabyScreen+ v0.0 TRHR Zornitza Stark gene: TRHR was added
gene: TRHR was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TRHR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRHR were set to Thyrotropin-releasing hormone resistance, generalized
Genomic newborn screening: BabyScreen+ v0.0 TRH Zornitza Stark gene: TRH was added
gene: TRH was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TRH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRH were set to Thyrotropin-releasing hormone deficiency
Genomic newborn screening: BabyScreen+ v0.0 TRDN Zornitza Stark gene: TRDN was added
gene: TRDN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TRDN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRDN were set to Catecholaminergic polymorphic ventricular tachycardia
Genomic newborn screening: BabyScreen+ v0.0 TPRN Zornitza Stark gene: TPRN was added
gene: TPRN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TPRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPRN were set to Deafness, autosomal recessive
Genomic newborn screening: BabyScreen+ v0.0 TNXB Zornitza Stark gene: TNXB was added
gene: TNXB was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TNXB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNXB were set to Ehlers-Danlos syndrome due to tenascin X deficiency
Genomic newborn screening: BabyScreen+ v0.0 TMPO Zornitza Stark gene: TMPO was added
gene: TMPO was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TMPO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TMPO were set to Cardiomyopathy, dilated
Genomic newborn screening: BabyScreen+ v0.0 TMEM237 Zornitza Stark gene: TMEM237 was added
gene: TMEM237 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TMEM237 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM237 were set to Joubert syndrome
Genomic newborn screening: BabyScreen+ v0.0 TMEM216 Zornitza Stark gene: TMEM216 was added
gene: TMEM216 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM216 were set to Joubert syndrome; Meckel syndrome
Genomic newborn screening: BabyScreen+ v0.0 TMC8 Zornitza Stark gene: TMC8 was added
gene: TMC8 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TMC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMC8 were set to Epidermodysplasia verruciformi
Genomic newborn screening: BabyScreen+ v0.0 TJP2 Zornitza Stark gene: TJP2 was added
gene: TJP2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TJP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TJP2 were set to Hypercholanemia, familial
Genomic newborn screening: BabyScreen+ v0.0 THBS1 Zornitza Stark gene: THBS1 was added
gene: THBS1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: THBS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: THBS1 were set to Pulmonary hypertension
Genomic newborn screening: BabyScreen+ v0.0 THBD Zornitza Stark gene: THBD was added
gene: THBD was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: THBD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: THBD were set to Haemolytic uraemic syndrome
Genomic newborn screening: BabyScreen+ v0.0 TGIF1 Zornitza Stark gene: TGIF1 was added
gene: TGIF1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TGIF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGIF1 were set to Holoprosencephaly-4
Genomic newborn screening: BabyScreen+ v0.0 TGFB3 Zornitza Stark gene: TGFB3 was added
gene: TGFB3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TGFB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFB3 were set to Arrhythmogenic right ventricular dysplasia
Genomic newborn screening: BabyScreen+ v0.0 TGFB1 Zornitza Stark gene: TGFB1 was added
gene: TGFB1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TGFB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFB1 were set to Camurati-Engelmann disease
Genomic newborn screening: BabyScreen+ v0.0 TFR2 Zornitza Stark gene: TFR2 was added
gene: TFR2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TFR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TFR2 were set to Hemochromatosis type 3
Genomic newborn screening: BabyScreen+ v0.0 TCTN3 Zornitza Stark gene: TCTN3 was added
gene: TCTN3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN3 were set to Joubert syndrome
Genomic newborn screening: BabyScreen+ v0.0 TCTN1 Zornitza Stark gene: TCTN1 was added
gene: TCTN1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TCTN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN1 were set to Joubert syndrome
Genomic newborn screening: BabyScreen+ v0.0 TCAP Zornitza Stark gene: TCAP was added
gene: TCAP was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene
Mode of inheritance for gene: TCAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCAP were set to Cardiomyopathy, dilated; Muscular dystrophy, limb-girdle, type 2G
Genomic newborn screening: BabyScreen+ v0.0 TBX20 Zornitza Stark gene: TBX20 was added
gene: TBX20 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TBX20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TBX20 were set to Congenital heart disease
Genomic newborn screening: BabyScreen+ v0.0 TBCE Zornitza Stark gene: TBCE was added
gene: TBCE was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBCE were set to Hypoparathyroidism retardation dysmorphism syndrome
Genomic newborn screening: BabyScreen+ v0.0 TARDBP Zornitza Stark gene: TARDBP was added
gene: TARDBP was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TARDBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TARDBP were set to Amyotrophic lateral sclerosis type 10
Genomic newborn screening: BabyScreen+ v0.0 TAB2 Zornitza Stark gene: TAB2 was added
gene: TAB2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TAB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TAB2 were set to Congenital heart disease, nonsyndromic
Genomic newborn screening: BabyScreen+ v0.0 SYT14 Zornitza Stark gene: SYT14 was added
gene: SYT14 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SYT14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SYT14 were set to Spinocerebellar ataxia, autosomal recessive 11
Genomic newborn screening: BabyScreen+ v0.0 SYNE4 Zornitza Stark gene: SYNE4 was added
gene: SYNE4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SYNE4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SYNE4 were set to Hearing loss
Genomic newborn screening: BabyScreen+ v0.0 ST3GAL5 Zornitza Stark gene: ST3GAL5 was added
gene: ST3GAL5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ST3GAL5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ST3GAL5 were set to Amish infantile epilepsy syndrome
Genomic newborn screening: BabyScreen+ v0.0 ST14 Zornitza Stark gene: ST14 was added
gene: ST14 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ST14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ST14 were set to Ichthyosis hypotrichosis syndrome
Genomic newborn screening: BabyScreen+ v0.0 SPTLC2 Zornitza Stark gene: SPTLC2 was added
gene: SPTLC2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SPTLC2 were set to Neuropathy, hereditary sensory and autonomic, type IC
Genomic newborn screening: BabyScreen+ v0.0 SP7 Zornitza Stark gene: SP7 was added
gene: SP7 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SP7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SP7 were set to Osteogenesis imperfecta, type XII
Genomic newborn screening: BabyScreen+ v0.0 SOX18 Zornitza Stark gene: SOX18 was added
gene: SOX18 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SOX18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SOX18 were set to Hypotrichosis-lymphedema-telangiectasia syndrome
Genomic newborn screening: BabyScreen+ v0.0 SOD1 Zornitza Stark gene: SOD1 was added
gene: SOD1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SOD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SOD1 were set to Amyotrophic lateral sclerosis
Genomic newborn screening: BabyScreen+ v0.0 SNAP29 Zornitza Stark gene: SNAP29 was added
gene: SNAP29 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNAP29 were set to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
Genomic newborn screening: BabyScreen+ v0.0 SMO Zornitza Stark gene: SMO was added
gene: SMO was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SMO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMO were set to Medulloblastoma
Genomic newborn screening: BabyScreen+ v0.0 SMAD9 Zornitza Stark gene: SMAD9 was added
gene: SMAD9 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SMAD9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD9 were set to Pulmonary arterial hypertension
Genomic newborn screening: BabyScreen+ v0.0 SMAD6 Zornitza Stark gene: SMAD6 was added
gene: SMAD6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SMAD6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD6 were set to Cardiovascular malformation, congenital
Genomic newborn screening: BabyScreen+ v0.0 SMAD1 Zornitza Stark gene: SMAD1 was added
gene: SMAD1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SMAD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD1 were set to Pulmonary arterial hypertension
Genomic newborn screening: BabyScreen+ v0.0 SLCO1B3 Zornitza Stark gene: SLCO1B3 was added
gene: SLCO1B3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLCO1B3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLCO1B3 were set to Hyperbilirubinemia, Rotor type, digenic
Genomic newborn screening: BabyScreen+ v0.0 SLCO1B1 Zornitza Stark gene: SLCO1B1 was added
gene: SLCO1B1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLCO1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLCO1B1 were set to Hyperbilirubinemia, Rotor type, digenic
Genomic newborn screening: BabyScreen+ v0.0 SLC9A3R1 Zornitza Stark gene: SLC9A3R1 was added
gene: SLC9A3R1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLC9A3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC9A3R1 were set to Nephrolithiasis/osteoporosis, hypophosphatemic, 2
Genomic newborn screening: BabyScreen+ v0.0 SLC6A2 Zornitza Stark gene: SLC6A2 was added
gene: SLC6A2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLC6A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC6A2 were set to Orthostatic intolerance
Genomic newborn screening: BabyScreen+ v0.0 SLC4A4 Zornitza Stark gene: SLC4A4 was added
gene: SLC4A4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC4A4 were set to Renal tubular acidosis, proximal, with ocular abnormalities
Genomic newborn screening: BabyScreen+ v0.0 SLC4A10 Zornitza Stark gene: SLC4A10 was added
gene: SLC4A10 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLC4A10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC4A10 were set to Epilepsy & mental retardation
Genomic newborn screening: BabyScreen+ v0.0 SLC41A1 Zornitza Stark gene: SLC41A1 was added
gene: SLC41A1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLC41A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC41A1 were set to 23661805
Phenotypes for gene: SLC41A1 were set to Nephronophthisis-like nephropathy 2, MIM# 619468
Genomic newborn screening: BabyScreen+ v0.0 SLC35C1 Zornitza Stark gene: SLC35C1 was added
gene: SLC35C1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLC35C1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC35C1 were set to Congenital disorder of glycosylation 2c
Genomic newborn screening: BabyScreen+ v0.0 SLC35A2 Zornitza Stark gene: SLC35A2 was added
gene: SLC35A2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLC35A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SLC35A2 were set to Early-onset epileptic encephalopathy
Genomic newborn screening: BabyScreen+ v0.0 SLC35A1 Zornitza Stark gene: SLC35A1 was added
gene: SLC35A1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLC35A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC35A1 were set to CDG syndrome type IIf
Genomic newborn screening: BabyScreen+ v0.0 SLC33A1 Zornitza Stark gene: SLC33A1 was added
gene: SLC33A1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLC33A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC33A1 were set to Spastic paraplegia, autosomal dominant; Congenital cataracts, hearing loss and low serum copper and ceruloplasmin
Genomic newborn screening: BabyScreen+ v0.0 SLC27A5 Zornitza Stark gene: SLC27A5 was added
gene: SLC27A5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLC27A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC27A5 were set to Bile acid amidation defect
Genomic newborn screening: BabyScreen+ v0.0 SLC25A22 Zornitza Stark gene: SLC25A22 was added
gene: SLC25A22 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLC25A22 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A22 were set to Early myoclonic encephalopathy
Genomic newborn screening: BabyScreen+ v0.0 SLC25A12 Zornitza Stark gene: SLC25A12 was added
gene: SLC25A12 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLC25A12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A12 were set to Hypomyelination, global cerebral
Genomic newborn screening: BabyScreen+ v0.0 SLC16A12 Zornitza Stark gene: SLC16A12 was added
gene: SLC16A12 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLC16A12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC16A12 were set to Cataract, juvenile with microcornea and renal glucosuria
Genomic newborn screening: BabyScreen+ v0.0 SLC16A1 Zornitza Stark Source Expert Review Red was added to SLC16A1.
Source BabySeq Category C gene was added to SLC16A1.
Added phenotypes Monocarboxylate transporter 1 deficiency for gene: SLC16A1
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 SLC12A5 Zornitza Stark gene: SLC12A5 was added
gene: SLC12A5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLC12A5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC12A5 were set to Febrile seizures
Genomic newborn screening: BabyScreen+ v0.0 SLC11A2 Zornitza Stark gene: SLC11A2 was added
gene: SLC11A2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLC11A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC11A2 were set to Anemia, hypochromic microcytic
Genomic newborn screening: BabyScreen+ v0.0 SIX5 Zornitza Stark gene: SIX5 was added
gene: SIX5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SIX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SIX5 were set to Branchiootorenal syndrome
Genomic newborn screening: BabyScreen+ v0.0 SIX2 Zornitza Stark gene: SIX2 was added
gene: SIX2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SIX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SIX2 were set to Renal hypodysplasia
Genomic newborn screening: BabyScreen+ v0.0 SHOC2 Zornitza Stark gene: SHOC2 was added
gene: SHOC2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SHOC2 were set to Noonan-like syndrome with loose anagen hair
Genomic newborn screening: BabyScreen+ v0.0 SH3BP2 Zornitza Stark gene: SH3BP2 was added
gene: SH3BP2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SH3BP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SH3BP2 were set to Cherubism
Genomic newborn screening: BabyScreen+ v0.0 SFTPA2 Zornitza Stark gene: SFTPA2 was added
gene: SFTPA2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SFTPA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SFTPA2 were set to Pulmonary fibrosis, idiopathic
Genomic newborn screening: BabyScreen+ v0.0 SERPIND1 Zornitza Stark gene: SERPIND1 was added
gene: SERPIND1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SERPIND1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SERPIND1 were set to Heparin cofactor 2 deficiency
Genomic newborn screening: BabyScreen+ v0.0 SERPINC1 Zornitza Stark gene: SERPINC1 was added
gene: SERPINC1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SERPINC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SERPINC1 were set to Thrombophilia due to antithrombin III deficiency
Genomic newborn screening: BabyScreen+ v0.0 SERPINB6 Zornitza Stark gene: SERPINB6 was added
gene: SERPINB6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SERPINB6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERPINB6 were set to Deafness, autosomal recessive
Genomic newborn screening: BabyScreen+ v0.0 SEMA3A Zornitza Stark gene: SEMA3A was added
gene: SEMA3A was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SEMA3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SEMA3A were set to Kallmann syndrome 1
Genomic newborn screening: BabyScreen+ v0.0 SEC63 Zornitza Stark gene: SEC63 was added
gene: SEC63 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SEC63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SEC63 were set to Polycystic liver disease
Genomic newborn screening: BabyScreen+ v0.0 SCP2 Zornitza Stark gene: SCP2 was added
gene: SCP2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SCP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCP2 were set to Leukoencephalopathy - dystonia - motor neuropathy
Genomic newborn screening: BabyScreen+ v0.0 SCO1 Zornitza Stark gene: SCO1 was added
gene: SCO1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCO1 were set to Hepatic failure, early onset, and neurologic disorder
Genomic newborn screening: BabyScreen+ v0.0 SCNN1G Zornitza Stark Source Expert Review Red was added to SCNN1G.
Source BabySeq Category C gene was added to SCNN1G.
Added phenotypes Pseudohypoaldosteronism for gene: SCNN1G
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 SCN4B Zornitza Stark gene: SCN4B was added
gene: SCN4B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SCN4B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN4B were set to Long QT syndrome
Genomic newborn screening: BabyScreen+ v0.0 SCN4A Zornitza Stark Source Expert Review Red was added to SCN4A.
Source BabySeq Category A gene was added to SCN4A.
Source BabySeq Category C gene was added to SCN4A.
Mode of inheritance for gene SCN4A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis, type 2 for gene: SCN4A
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 SCN3B Zornitza Stark gene: SCN3B was added
gene: SCN3B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SCN3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN3B were set to Brugada syndrome
Genomic newborn screening: BabyScreen+ v0.0 SCN2B Zornitza Stark gene: SCN2B was added
gene: SCN2B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SCN2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN2B were set to Atrial fibrillation
Genomic newborn screening: BabyScreen+ v0.0 SCN1B Zornitza Stark gene: SCN1B was added
gene: SCN1B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SCN1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN1B were set to Brugada syndrome
Genomic newborn screening: BabyScreen+ v0.0 SC5D Zornitza Stark gene: SC5D was added
gene: SC5D was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SC5D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SC5D were set to Lathosterolosis
Genomic newborn screening: BabyScreen+ v0.0 RPS7 Zornitza Stark Source Expert Review Red was added to RPS7.
Source BabySeq Category C gene was added to RPS7.
Added phenotypes Diamond-Blackfan anemia for gene: RPS7
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 RPS10 Zornitza Stark Source Expert Review Red was added to RPS10.
Source BabySeq Category C gene was added to RPS10.
Added phenotypes Diamond-Blackfan anemia for gene: RPS10
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 RPL35A Zornitza Stark Source Expert Review Red was added to RPL35A.
Source BabySeq Category C gene was added to RPL35A.
Added phenotypes Diamond-Blackfan anemia for gene: RPL35A
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 RHAG Zornitza Stark gene: RHAG was added
gene: RHAG was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: RHAG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RHAG were set to Rh-deficiency syndrome
Genomic newborn screening: BabyScreen+ v0.0 RFX6 Zornitza Stark gene: RFX6 was added
gene: RFX6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: RFX6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RFX6 were set to Diabetes, neonatal, with intestinal atresia
Genomic newborn screening: BabyScreen+ v0.0 RELN Zornitza Stark gene: RELN was added
gene: RELN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: RELN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RELN were set to Lissencephaly syndrome
Genomic newborn screening: BabyScreen+ v0.0 RANGRF Zornitza Stark gene: RANGRF was added
gene: RANGRF was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: RANGRF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RANGRF were set to Brugada syndrome
Genomic newborn screening: BabyScreen+ v0.0 RAD51B Zornitza Stark gene: RAD51B was added
gene: RAD51B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: RAD51B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RAD51B were set to Breast and/or ovarian cancer
Genomic newborn screening: BabyScreen+ v0.0 RAB10 Zornitza Stark gene: RAB10 was added
gene: RAB10 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: RAB10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RAB10 were set to Congenital heart disease
Genomic newborn screening: BabyScreen+ v0.0 PSEN2 Zornitza Stark gene: PSEN2 was added
gene: PSEN2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PSEN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PSEN2 were set to Alzheimer disease, type 4
Genomic newborn screening: BabyScreen+ v0.0 PSEN1 Zornitza Stark gene: PSEN1 was added
gene: PSEN1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PSEN1 were set to Alzheimer disease, type 3
Genomic newborn screening: BabyScreen+ v0.0 PSAT1 Zornitza Stark Source Expert Review Red was added to PSAT1.
Source BabySeq Category C gene was added to PSAT1.
Added phenotypes Phosphoserine aminotransferase deficiency for gene: PSAT1
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 PRRX1 Zornitza Stark gene: PRRX1 was added
gene: PRRX1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PRRX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRRX1 were set to Agnathia-otocephaly complex
Genomic newborn screening: BabyScreen+ v0.0 PRPS1 Zornitza Stark gene: PRPS1 was added
gene: PRPS1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PRPS1 were set to Charcot-Marie-Tooth disease; Arts syndrome
Genomic newborn screening: BabyScreen+ v0.0 PRODH Zornitza Stark gene: PRODH was added
gene: PRODH was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PRODH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRODH were set to Hyperprolinemia, type I
Genomic newborn screening: BabyScreen+ v0.0 PRKCSH Zornitza Stark gene: PRKCSH was added
gene: PRKCSH was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PRKCSH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRKCSH were set to Polycystic liver disease
Genomic newborn screening: BabyScreen+ v0.0 PRKAG2 Zornitza Stark gene: PRKAG2 was added
gene: PRKAG2 was added to gNBS. Sources: BabySeq Category B gene,Expert Review Red,BabySeq Category A gene,BabySeq Category C gene
Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRKAG2 were set to Cardiomyopathy, hypertrophic; Wolff-Parkinson-White syndrome; Glycogen storage disease of heart, lethal congenital
Genomic newborn screening: BabyScreen+ v0.0 PRICKLE1 Zornitza Stark gene: PRICKLE1 was added
gene: PRICKLE1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PRICKLE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRICKLE1 were set to Epilepsy, progressive myoclonic 1B
Genomic newborn screening: BabyScreen+ v0.0 PREPL Zornitza Stark Source Expert Review Red was added to PREPL.
Source BabySeq Category C gene was added to PREPL.
Added phenotypes Hypotonia - cystinuria syndrome for gene: PREPL
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 PRDM16 Zornitza Stark gene: PRDM16 was added
gene: PRDM16 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PRDM16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRDM16 were set to Left ventricular noncompaction
Genomic newborn screening: BabyScreen+ v0.0 PPOX Zornitza Stark gene: PPOX was added
gene: PPOX was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PPOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PPOX were set to Porphyria variegata
Genomic newborn screening: BabyScreen+ v0.0 POMC Zornitza Stark gene: POMC was added
gene: POMC was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: POMC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMC were set to Proopiomelanocortin deficiency
Genomic newborn screening: BabyScreen+ v0.0 PODXL Zornitza Stark gene: PODXL was added
gene: PODXL was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PODXL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PODXL were set to Focal and segmental glomerulosclerosis
Genomic newborn screening: BabyScreen+ v0.0 PNPLA1 Zornitza Stark gene: PNPLA1 was added
gene: PNPLA1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PNPLA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPLA1 were set to Ichthyosis, autosomal recessive congenital
Genomic newborn screening: BabyScreen+ v0.0 PMS2 Zornitza Stark gene: PMS2 was added
gene: PMS2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PMS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PMS2 were set to Lynch syndrome
Genomic newborn screening: BabyScreen+ v0.0 PLOD2 Zornitza Stark gene: PLOD2 was added
gene: PLOD2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PLOD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLOD2 were set to Bruck syndrome
Genomic newborn screening: BabyScreen+ v0.0 PLN Zornitza Stark gene: PLN was added
gene: PLN was added to gNBS. Sources: Expert Review Red,BabySeq Category B gene,BabySeq Category C gene
Mode of inheritance for gene: PLN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PLN were set to Cardiomyopathy, familial hypertrophic; Cardiomyopathy, dilated
Genomic newborn screening: BabyScreen+ v0.0 PHOX2A Zornitza Stark gene: PHOX2A was added
gene: PHOX2A was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PHOX2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PHOX2A were set to Fibrosis of extraocular muscles, congenital
Genomic newborn screening: BabyScreen+ v0.0 PHKA1 Zornitza Stark gene: PHKA1 was added
gene: PHKA1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PHKA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PHKA1 were set to Phosphorylase kinase deficiency
Genomic newborn screening: BabyScreen+ v0.0 PEX19 Zornitza Stark gene: PEX19 was added
gene: PEX19 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PEX19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX19 were set to Zellweger syndrome
Genomic newborn screening: BabyScreen+ v0.0 PEX16 Zornitza Stark gene: PEX16 was added
gene: PEX16 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX16 were set to Zellweger syndrome
Genomic newborn screening: BabyScreen+ v0.0 PEX14 Zornitza Stark gene: PEX14 was added
gene: PEX14 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PEX14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX14 were set to Zellweger syndrome
Genomic newborn screening: BabyScreen+ v0.0 PEX11B Zornitza Stark gene: PEX11B was added
gene: PEX11B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PEX11B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX11B were set to Peroxisome biogenesis disorder
Genomic newborn screening: BabyScreen+ v0.0 PDSS2 Zornitza Stark Source Expert Review Red was added to PDSS2.
Source BabySeq Category C gene was added to PDSS2.
Added phenotypes Leigh syndrome with nephropathy and COQ10 deficiency for gene: PDSS2
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 PDSS1 Zornitza Stark Source Expert Review Red was added to PDSS1.
Source BabySeq Category C gene was added to PDSS1.
Added phenotypes Deafness - encephaloneuropathy - obesity - valvulopathy Neonatal for gene: PDSS1
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 PDP1 Zornitza Stark gene: PDP1 was added
gene: PDP1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PDP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDP1 were set to Pyruvate dehydrogenase phosphatase deficiency
Genomic newborn screening: BabyScreen+ v0.0 PDLIM3 Zornitza Stark gene: PDLIM3 was added
gene: PDLIM3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PDLIM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PDLIM3 were set to Cardiomyopathy, dilated
Genomic newborn screening: BabyScreen+ v0.0 PDE11A Zornitza Stark gene: PDE11A was added
gene: PDE11A was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PDE11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PDE11A were set to Adrenocortical hyperplasia
Genomic newborn screening: BabyScreen+ v0.0 PABPN1 Zornitza Stark gene: PABPN1 was added
gene: PABPN1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PABPN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PABPN1 were set to Oculopharyngeal muscular dystrophy
Genomic newborn screening: BabyScreen+ v0.0 P2RX2 Zornitza Stark gene: P2RX2 was added
gene: P2RX2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: P2RX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: P2RX2 were set to Hearing loss
Genomic newborn screening: BabyScreen+ v0.0 OTUD4 Zornitza Stark gene: OTUD4 was added
gene: OTUD4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: OTUD4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OTUD4 were set to Hypogonadotropic hypogonadism, ataxia & dementia
Genomic newborn screening: BabyScreen+ v0.0 OTOG Zornitza Stark gene: OTOG was added
gene: OTOG was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: OTOG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OTOG were set to Deafness, autosomal recessive
Genomic newborn screening: BabyScreen+ v0.0 ORC6 Zornitza Stark gene: ORC6 was added
gene: ORC6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ORC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC6 were set to Meier-Gorlin syndrome
Genomic newborn screening: BabyScreen+ v0.0 ORC4 Zornitza Stark gene: ORC4 was added
gene: ORC4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ORC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC4 were set to Meier-Gorlin syndrome
Genomic newborn screening: BabyScreen+ v0.0 OPA3 Zornitza Stark gene: OPA3 was added
gene: OPA3 was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene
Mode of inheritance for gene: OPA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: OPA3 were set to Optic atrophy 3 with cataract; 3-methylglutaconic aciduria, type III
Genomic newborn screening: BabyScreen+ v0.0 NUP62 Zornitza Stark gene: NUP62 was added
gene: NUP62 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NUP62 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUP62 were set to Striatonigral degeneration, infantile
Genomic newborn screening: BabyScreen+ v0.0 NUP155 Zornitza Stark gene: NUP155 was added
gene: NUP155 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NUP155 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUP155 were set to Atrial fibrillation
Genomic newborn screening: BabyScreen+ v0.0 NUB1 Zornitza Stark gene: NUB1 was added
gene: NUB1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NUB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NUB1 were set to Congenital heart disease
Genomic newborn screening: BabyScreen+ v0.0 NSDHL Zornitza Stark gene: NSDHL was added
gene: NSDHL was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene
Mode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NSDHL were set to CK syndrome; CHILD syndrome
Genomic newborn screening: BabyScreen+ v0.0 NRXN1 Zornitza Stark gene: NRXN1 was added
gene: NRXN1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NRXN1 was set to Unknown
Phenotypes for gene: NRXN1 were set to Autism
Genomic newborn screening: BabyScreen+ v0.0 NRG1 Zornitza Stark gene: NRG1 was added
gene: NRG1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NRG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NRG1 were set to Hirschsprung disease
Genomic newborn screening: BabyScreen+ v0.0 NR1H4 Zornitza Stark gene: NR1H4 was added
gene: NR1H4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NR1H4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NR1H4 were set to Cholestasis, infantile
Genomic newborn screening: BabyScreen+ v0.0 NPPA Zornitza Stark gene: NPPA was added
gene: NPPA was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NPPA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NPPA were set to Atrial fibrillation
Genomic newborn screening: BabyScreen+ v0.0 NOTCH1 Zornitza Stark gene: NOTCH1 was added
gene: NOTCH1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NOTCH1 were set to Aortic valve disease
Genomic newborn screening: BabyScreen+ v0.0 NOP10 Zornitza Stark gene: NOP10 was added
gene: NOP10 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NOP10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NOP10 were set to Dyskeratosis congenita
Genomic newborn screening: BabyScreen+ v0.0 NME8 Zornitza Stark gene: NME8 was added
gene: NME8 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NME8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NME8 were set to Ciliary dyskinesia, primary
Genomic newborn screening: BabyScreen+ v0.0 NLRP7 Zornitza Stark gene: NLRP7 was added
gene: NLRP7 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NLRP7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NLRP7 were set to Hydatidiform mole
Genomic newborn screening: BabyScreen+ v0.0 NLGN4X Zornitza Stark gene: NLGN4X was added
gene: NLGN4X was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NLGN4X was set to Unknown
Phenotypes for gene: NLGN4X were set to Autism
Genomic newborn screening: BabyScreen+ v0.0 NLGN3 Zornitza Stark gene: NLGN3 was added
gene: NLGN3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NLGN3 was set to Unknown
Phenotypes for gene: NLGN3 were set to Autism
Genomic newborn screening: BabyScreen+ v0.0 NKX3-2 Zornitza Stark gene: NKX3-2 was added
gene: NKX3-2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NKX3-2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NKX3-2 were set to Spondylo-megaepiphyseal-metaphyseal dysplasia
Genomic newborn screening: BabyScreen+ v0.0 NIN Zornitza Stark gene: NIN was added
gene: NIN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NIN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NIN were set to Seckel syndrome
Genomic newborn screening: BabyScreen+ v0.0 NHP2 Zornitza Stark gene: NHP2 was added
gene: NHP2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NHP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NHP2 were set to Dyskeratosis congenita
Genomic newborn screening: BabyScreen+ v0.0 NFATC1 Zornitza Stark gene: NFATC1 was added
gene: NFATC1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NFATC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NFATC1 were set to Congenital heart disease
Genomic newborn screening: BabyScreen+ v0.0 NEXN Zornitza Stark gene: NEXN was added
gene: NEXN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NEXN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NEXN were set to Cardiomyopathy, familial hypertrophic; Cardiomyopathy, dilated
Genomic newborn screening: BabyScreen+ v0.0 NEDD4L Zornitza Stark gene: NEDD4L was added
gene: NEDD4L was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NEDD4L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NEDD4L were set to Epilepsy, photosensitive generalised
Genomic newborn screening: BabyScreen+ v0.0 NECTIN1 Zornitza Stark gene: NECTIN1 was added
gene: NECTIN1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NECTIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NECTIN1 were set to Cleft lip / palate
Genomic newborn screening: BabyScreen+ v0.0 NEBL Zornitza Stark gene: NEBL was added
gene: NEBL was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NEBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NEBL were set to Cardiomyopathy, dilated
Genomic newborn screening: BabyScreen+ v0.0 NCF4 Zornitza Stark Source Expert Review Red was added to NCF4.
Source BabySeq Category C gene was added to NCF4.
Added phenotypes Chronic granulomatous disease for gene: NCF4
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 NAA15 Zornitza Stark gene: NAA15 was added
gene: NAA15 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NAA15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NAA15 were set to Congenital heart disease
Genomic newborn screening: BabyScreen+ v0.0 NAA10 Zornitza Stark gene: NAA10 was added
gene: NAA10 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NAA10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NAA10 were set to N-terminal acetyltransferase deficiency
Genomic newborn screening: BabyScreen+ v0.0 MYPN Zornitza Stark gene: MYPN was added
gene: MYPN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MYPN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYPN were set to Cardiomyopathy, hypertrophic; Cardiomyopathy, dilated
Genomic newborn screening: BabyScreen+ v0.0 MYOZ2 Zornitza Stark gene: MYOZ2 was added
gene: MYOZ2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MYOZ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYOZ2 were set to Cardiomyopathy, hypertrophic
Genomic newborn screening: BabyScreen+ v0.0 MYOT Zornitza Stark gene: MYOT was added
gene: MYOT was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MYOT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYOT were set to Myofibrillar myopathy
Genomic newborn screening: BabyScreen+ v0.0 MYOM1 Zornitza Stark gene: MYOM1 was added
gene: MYOM1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MYOM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYOM1 were set to Cardiomyopathy, hypertrophic
Genomic newborn screening: BabyScreen+ v0.0 MYO5A Zornitza Stark gene: MYO5A was added
gene: MYO5A was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MYO5A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO5A were set to Griscelli syndrome
Genomic newborn screening: BabyScreen+ v0.0 MYO1F Zornitza Stark gene: MYO1F was added
gene: MYO1F was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MYO1F was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO1F were set to Sensorineural hearing loss
Genomic newborn screening: BabyScreen+ v0.0 MYO1E Zornitza Stark gene: MYO1E was added
gene: MYO1E was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MYO1E was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO1E were set to Focal segmental glomerulosclerosis
Genomic newborn screening: BabyScreen+ v0.0 MYO1C Zornitza Stark gene: MYO1C was added
gene: MYO1C was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MYO1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO1C were set to Sensorineural hearing loss
Genomic newborn screening: BabyScreen+ v0.0 MYLK2 Zornitza Stark gene: MYLK2 was added
gene: MYLK2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MYLK2 was set to Unknown
Phenotypes for gene: MYLK2 were set to Cardiomyopathy, hypertrophic
Genomic newborn screening: BabyScreen+ v0.0 MYH6 Zornitza Stark gene: MYH6 was added
gene: MYH6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MYH6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYH6 were set to Cardiomyopathy, dilated; Cardiomyopathy, familial hypertrophic; Atrial septal defect
Genomic newborn screening: BabyScreen+ v0.0 MYBPC3 Zornitza Stark gene: MYBPC3 was added
gene: MYBPC3 was added to gNBS. Sources: Expert Review Red,BabySeq Category B gene,BabySeq Category C gene
Mode of inheritance for gene: MYBPC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYBPC3 were set to Cardiomyopathy, familial hypertrophic; Cardiomyopathy, dilated
Genomic newborn screening: BabyScreen+ v0.0 MUC5B Zornitza Stark gene: MUC5B was added
gene: MUC5B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MUC5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MUC5B were set to Pulmonary fibrosis, idiopathic
Genomic newborn screening: BabyScreen+ v0.0 MTO1 Zornitza Stark gene: MTO1 was added
gene: MTO1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MTO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTO1 were set to Hypertrophic cardiomyopathy & lactic acidosis
Genomic newborn screening: BabyScreen+ v0.0 MT-ND6 Zornitza Stark gene: MT-ND6 was added
gene: MT-ND6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene gene: MT-ND6 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND6 were set to Leber hereditary optic neuropathy
Genomic newborn screening: BabyScreen+ v0.0 MT-ND4 Zornitza Stark gene: MT-ND4 was added
gene: MT-ND4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene gene: MT-ND4 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND4 were set to Leber hereditary optic neuropathy
Genomic newborn screening: BabyScreen+ v0.0 MT-ND1 Zornitza Stark gene: MT-ND1 was added
gene: MT-ND1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene gene: MT-ND1 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND1 were set to Leber hereditary optic neuropathy
Genomic newborn screening: BabyScreen+ v0.0 MSRB3 Zornitza Stark gene: MSRB3 was added
gene: MSRB3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MSRB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MSRB3 were set to Deafness, autosomal recessive
Genomic newborn screening: BabyScreen+ v0.0 MSH6 Zornitza Stark gene: MSH6 was added
gene: MSH6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MSH6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MSH6 were set to Lynch syndrome
Genomic newborn screening: BabyScreen+ v0.0 MSH2 Zornitza Stark gene: MSH2 was added
gene: MSH2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MSH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MSH2 were set to Lynch syndrome
Genomic newborn screening: BabyScreen+ v0.0 MRPS22 Zornitza Stark gene: MRPS22 was added
gene: MRPS22 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MRPS22 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRPS22 were set to Mitochondrial respiratory chain disorder
Genomic newborn screening: BabyScreen+ v0.0 MRPS16 Zornitza Stark gene: MRPS16 was added
gene: MRPS16 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MRPS16 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRPS16 were set to Mitochondrial respiratory chain disorder
Genomic newborn screening: BabyScreen+ v0.0 MOGS Zornitza Stark gene: MOGS was added
gene: MOGS was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MOGS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MOGS were set to Glucosidase 1 deficiency
Genomic newborn screening: BabyScreen+ v0.0 MLPH Zornitza Stark gene: MLPH was added
gene: MLPH was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MLPH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MLPH were set to Griscelli syndrome type 3
Genomic newborn screening: BabyScreen+ v0.0 MLH1 Zornitza Stark gene: MLH1 was added
gene: MLH1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MLH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MLH1 were set to Lynch syndrome
Genomic newborn screening: BabyScreen+ v0.0 MIR96 Zornitza Stark gene: MIR96 was added
gene: MIR96 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MIR96 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MIR96 were set to Hearing loss
Genomic newborn screening: BabyScreen+ v0.0 MIB1 Zornitza Stark gene: MIB1 was added
gene: MIB1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MIB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MIB1 were set to Left ventricular noncompaction
Genomic newborn screening: BabyScreen+ v0.0 MESP2 Zornitza Stark gene: MESP2 was added
gene: MESP2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MESP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MESP2 were set to Spondylocostal dysostosis, autosomal recessive 2
Genomic newborn screening: BabyScreen+ v0.0 MED20 Zornitza Stark gene: MED20 was added
gene: MED20 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MED20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MED20 were set to Congenital heart disease
Genomic newborn screening: BabyScreen+ v0.0 MED13L Zornitza Stark gene: MED13L was added
gene: MED13L was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MED13L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MED13L were set to Transposition of great arteries
Genomic newborn screening: BabyScreen+ v0.0 MCEE Zornitza Stark gene: MCEE was added
gene: MCEE was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MCEE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCEE were set to Methylmalonyl-CoA epimerase deficiency
Genomic newborn screening: BabyScreen+ v0.0 MCCC2 Zornitza Stark Source Expert Review Red was added to MCCC2.
Source BabySeq Category B gene was added to MCCC2.
Added phenotypes 3-Methylcrotonyl-CoA carboxylase 2 deficiency for gene: MCCC2
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 MATN4 Zornitza Stark gene: MATN4 was added
gene: MATN4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MATN4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MATN4 were set to Multiple anomalies
Genomic newborn screening: BabyScreen+ v0.0 MAT1A Zornitza Stark gene: MAT1A was added
gene: MAT1A was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MAT1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAT1A were set to Methionine adenosyltransferase deficiency
Genomic newborn screening: BabyScreen+ v0.0 MAPT Zornitza Stark gene: MAPT was added
gene: MAPT was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MAPT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MAPT were set to Dementia, frontotemporal, with or without parkinsonism
Genomic newborn screening: BabyScreen+ v0.0 MAPK10 Zornitza Stark gene: MAPK10 was added
gene: MAPK10 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MAPK10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MAPK10 were set to Epileptic encephalopathy
Genomic newborn screening: BabyScreen+ v0.0 LYZ Zornitza Stark gene: LYZ was added
gene: LYZ was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: LYZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LYZ were set to Amyloidosis, systemic
Genomic newborn screening: BabyScreen+ v0.0 LUM Zornitza Stark gene: LUM was added
gene: LUM was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: LUM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LUM were set to Amyotrophic lateral sclerosis
Genomic newborn screening: BabyScreen+ v0.0 LRRK2 Zornitza Stark gene: LRRK2 was added
gene: LRRK2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: LRRK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LRRK2 were set to Parkinson disease
Genomic newborn screening: BabyScreen+ v0.0 LPP Zornitza Stark gene: LPP was added
gene: LPP was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: LPP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LPP were set to Tetralogy of Fallot
Genomic newborn screening: BabyScreen+ v0.0 LPIN2 Zornitza Stark gene: LPIN2 was added
gene: LPIN2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: LPIN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LPIN2 were set to Majeed syndrome
Genomic newborn screening: BabyScreen+ v0.0 LMNB2 Zornitza Stark gene: LMNB2 was added
gene: LMNB2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: LMNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LMNB2 were set to Lipodystrophy, partial
Genomic newborn screening: BabyScreen+ v0.0 LHB Zornitza Stark gene: LHB was added
gene: LHB was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: LHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LHB were set to Hypogonadism
Genomic newborn screening: BabyScreen+ v0.0 LGI1 Zornitza Stark gene: LGI1 was added
gene: LGI1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: LGI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LGI1 were set to Epilepsy, familial temporal lobe, 1
Genomic newborn screening: BabyScreen+ v0.0 LDB3 Zornitza Stark gene: LDB3 was added
gene: LDB3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: LDB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LDB3 were set to Myofibrillar myopathy
Genomic newborn screening: BabyScreen+ v0.0 LBR Zornitza Stark gene: LBR was added
gene: LBR was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene
Mode of inheritance for gene: LBR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LBR were set to Pelger-Huet anomaly; Reynolds syndrome
Genomic newborn screening: BabyScreen+ v0.0 LARS Zornitza Stark gene: LARS was added
gene: LARS was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: LARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARS were set to Infantile liver failure syndrome
Genomic newborn screening: BabyScreen+ v0.0 LAMA4 Zornitza Stark gene: LAMA4 was added
gene: LAMA4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: LAMA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LAMA4 were set to Cardiomyopathy, dilated
Genomic newborn screening: BabyScreen+ v0.0 KRT8 Zornitza Stark gene: KRT8 was added
gene: KRT8 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: KRT8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT8 were set to Cirrhosis, cryptogenic
Genomic newborn screening: BabyScreen+ v0.0 KRT6B Zornitza Stark gene: KRT6B was added
gene: KRT6B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: KRT6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT6B were set to Pachyonychia congenita
Genomic newborn screening: BabyScreen+ v0.0 KRT18 Zornitza Stark gene: KRT18 was added
gene: KRT18 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: KRT18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT18 were set to Cirrhosis, cryptogenic
Genomic newborn screening: BabyScreen+ v0.0 KPTN Zornitza Stark gene: KPTN was added
gene: KPTN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: KPTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KPTN were set to Macrocephaly, neurodevelopmental delay, and seizures
Genomic newborn screening: BabyScreen+ v0.0 KIF22 Zornitza Stark gene: KIF22 was added
gene: KIF22 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: KIF22 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KIF22 were set to Spondyloepimetaphyseal dysplasia with joint laxity, type 2
Genomic newborn screening: BabyScreen+ v0.0 KIF1BP Zornitza Stark gene: KIF1BP was added
gene: KIF1BP was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: KIF1BP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF1BP were set to Goldberg-Shprintzen megacolon syndrome
Genomic newborn screening: BabyScreen+ v0.0 KIF1B Zornitza Stark gene: KIF1B was added
gene: KIF1B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: KIF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KIF1B were set to Charcot-Marie-Tooth disease
Genomic newborn screening: BabyScreen+ v0.0 KDM5B Zornitza Stark gene: KDM5B was added
gene: KDM5B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: KDM5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KDM5B were set to Congenital heart disease
Genomic newborn screening: BabyScreen+ v0.0 KCNQ3 Zornitza Stark gene: KCNQ3 was added
gene: KCNQ3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: KCNQ3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNQ3 were set to Epilepsy, benign neonatal
Genomic newborn screening: BabyScreen+ v0.0 KCNQ2 Zornitza Stark Source Expert Review Red was added to KCNQ2.
Source BabySeq Category C gene was added to KCNQ2.
Added phenotypes Epilepsy, benign neonatal for gene: KCNQ2
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 KCNQ1OT1 Zornitza Stark gene: KCNQ1OT1 was added
gene: KCNQ1OT1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: KCNQ1OT1 was set to Unknown
Phenotypes for gene: KCNQ1OT1 were set to Beckwith-Wiedemann syndrome
Genomic newborn screening: BabyScreen+ v0.0 KCNJ8 Zornitza Stark gene: KCNJ8 was added
gene: KCNJ8 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: KCNJ8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNJ8 were set to Sudden infant death syndrom
Genomic newborn screening: BabyScreen+ v0.0 KCNJ5 Zornitza Stark gene: KCNJ5 was added
gene: KCNJ5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: KCNJ5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNJ5 were set to Long QT syndrome
Genomic newborn screening: BabyScreen+ v0.0 KCNJ18 Zornitza Stark gene: KCNJ18 was added
gene: KCNJ18 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: KCNJ18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNJ18 were set to Hypokalaemic periodic paralysis
Genomic newborn screening: BabyScreen+ v0.0 KCNE5 Zornitza Stark gene: KCNE5 was added
gene: KCNE5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: KCNE5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNE5 were set to Atrial fibrillation
Genomic newborn screening: BabyScreen+ v0.0 KCNE3 Zornitza Stark gene: KCNE3 was added
gene: KCNE3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: KCNE3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNE3 were set to Brugada syndrome
Genomic newborn screening: BabyScreen+ v0.0 KCND3 Zornitza Stark gene: KCND3 was added
gene: KCND3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: KCND3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCND3 were set to Brugada syndrome
Genomic newborn screening: BabyScreen+ v0.0 JPH2 Zornitza Stark gene: JPH2 was added
gene: JPH2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: JPH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: JPH2 were set to Cardiomyopathy, hypertrophic
Genomic newborn screening: BabyScreen+ v0.0 ITGA7 Zornitza Stark gene: ITGA7 was added
gene: ITGA7 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ITGA7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGA7 were set to Congenital muscular dystrophy with integrin deficiency
Genomic newborn screening: BabyScreen+ v0.0 ITGA6 Zornitza Stark gene: ITGA6 was added
gene: ITGA6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ITGA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGA6 were set to Epidermolysis bullosa, junctional, with pyloric stenosis
Genomic newborn screening: BabyScreen+ v0.0 ISL1 Zornitza Stark gene: ISL1 was added
gene: ISL1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ISL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ISL1 were set to Diabetes, type 2
Genomic newborn screening: BabyScreen+ v0.0 ISCU Zornitza Stark gene: ISCU was added
gene: ISCU was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ISCU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ISCU were set to Myopathy with defiency of succinate dehydrogenase
Genomic newborn screening: BabyScreen+ v0.0 IRS1 Zornitza Stark gene: IRS1 was added
gene: IRS1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: IRS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: IRS1 were set to Diabetes mellitus, noninsulin dependent
Genomic newborn screening: BabyScreen+ v0.0 ILK Zornitza Stark gene: ILK was added
gene: ILK was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ILK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ILK were set to Cardiomyopathy, dilated
Genomic newborn screening: BabyScreen+ v0.0 IL10RB Zornitza Stark Source Expert Review Red was added to IL10RB.
Source BabySeq Category C gene was added to IL10RB.
Added phenotypes Inflammatory bowel disease for gene: IL10RB
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 IGF1 Zornitza Stark gene: IGF1 was added
gene: IGF1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: IGF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGF1 were set to Insulin-like growth factor deficiency
Genomic newborn screening: BabyScreen+ v0.0 IGBP1 Zornitza Stark gene: IGBP1 was added
gene: IGBP1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: IGBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IGBP1 were set to Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia
Genomic newborn screening: BabyScreen+ v0.0 IFT80 Zornitza Stark gene: IFT80 was added
gene: IFT80 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: IFT80 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT80 were set to Asphyxiating thoracic dystrophy 2
Genomic newborn screening: BabyScreen+ v0.0 IFT43 Zornitza Stark gene: IFT43 was added
gene: IFT43 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: IFT43 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT43 were set to Cranioectodermal dysplasia
Genomic newborn screening: BabyScreen+ v0.0 IFT122 Zornitza Stark gene: IFT122 was added
gene: IFT122 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT122 were set to Cranioectodermal dysplasia
Genomic newborn screening: BabyScreen+ v0.0 HYLS1 Zornitza Stark gene: HYLS1 was added
gene: HYLS1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: HYLS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HYLS1 were set to Hydrolethalus syndrome
Genomic newborn screening: BabyScreen+ v0.0 HYDIN Zornitza Stark gene: HYDIN was added
gene: HYDIN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: HYDIN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HYDIN were set to Primary ciliary dyskinesia
Genomic newborn screening: BabyScreen+ v0.0 HPS6 Zornitza Stark gene: HPS6 was added
gene: HPS6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: HPS6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS6 were set to Hermansky-Pudlak syndrome 6
Genomic newborn screening: BabyScreen+ v0.0 HPD Zornitza Stark Source Expert Review Red was added to HPD.
Source BabySeq Category C gene was added to HPD.
Mode of inheritance for gene HPD was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Tyrosinemia, type III for gene: HPD
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 HOXA1 Zornitza Stark gene: HOXA1 was added
gene: HOXA1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: HOXA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HOXA1 were set to Athabaskan brainstem dysgenesis syndrome
Genomic newborn screening: BabyScreen+ v0.0 HOMEZ Zornitza Stark gene: HOMEZ was added
gene: HOMEZ was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: HOMEZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HOMEZ were set to Congenital heart disease
Genomic newborn screening: BabyScreen+ v0.0 HNF1B Zornitza Stark gene: HNF1B was added
gene: HNF1B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HNF1B were set to Renal cysts and diabetes syndrome
Genomic newborn screening: BabyScreen+ v0.0 HMBS Zornitza Stark gene: HMBS was added
gene: HMBS was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: HMBS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HMBS were set to Porphyria, acute intermittent
Genomic newborn screening: BabyScreen+ v0.0 HK1 Zornitza Stark Source Expert Review Red was added to HK1.
Source BabySeq Category C gene was added to HK1.
Mode of inheritance for gene HK1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hemolytic anemia due to hexokinase deficiency for gene: HK1
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 HIBCH Zornitza Stark gene: HIBCH was added
gene: HIBCH was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HIBCH were set to Neurodegeneration, progressive infantile
Genomic newborn screening: BabyScreen+ v0.0 HFE2 Zornitza Stark gene: HFE2 was added
gene: HFE2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: HFE2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HFE2 were set to Haemochromatosis
Genomic newborn screening: BabyScreen+ v0.0 HFE Zornitza Stark gene: HFE was added
gene: HFE was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HFE were set to Hemochromatosis
Genomic newborn screening: BabyScreen+ v0.0 HESX1 Zornitza Stark Source Expert Review Red was added to HESX1.
Source BabySeq Category C gene was added to HESX1.
Mode of inheritance for gene HESX1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Pituitary hypoplasia for gene: HESX1
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 HERC2 Zornitza Stark gene: HERC2 was added
gene: HERC2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: HERC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HERC2 were set to Autism spectrum disorder
Genomic newborn screening: BabyScreen+ v0.0 HCN4 Zornitza Stark gene: HCN4 was added
gene: HCN4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: HCN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HCN4 were set to Brugada syndrome
Genomic newborn screening: BabyScreen+ v0.0 HCCS Zornitza Stark gene: HCCS was added
gene: HCCS was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: HCCS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HCCS were set to Microphthalmia
Genomic newborn screening: BabyScreen+ v0.0 HAS2 Zornitza Stark gene: HAS2 was added
gene: HAS2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: HAS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HAS2 were set to Congenital heart disease
Genomic newborn screening: BabyScreen+ v0.0 HARS Zornitza Stark gene: HARS was added
gene: HARS was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: HARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HARS were set to Usher syndrome type 3B
Genomic newborn screening: BabyScreen+ v0.0 HAMP Zornitza Stark gene: HAMP was added
gene: HAMP was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: HAMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HAMP were set to Haemochromatosis
Genomic newborn screening: BabyScreen+ v0.0 H19 Zornitza Stark gene: H19 was added
gene: H19 was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene
Mode of inheritance for gene: H19 was set to Unknown
Phenotypes for gene: H19 were set to Beckwith-Wiedemann Syndrome
Genomic newborn screening: BabyScreen+ v0.0 GYG1 Zornitza Stark gene: GYG1 was added
gene: GYG1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: GYG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GYG1 were set to Glycogen storage disease XV
Genomic newborn screening: BabyScreen+ v0.0 GUCY2C Zornitza Stark gene: GUCY2C was added
gene: GUCY2C was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: GUCY2C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GUCY2C were set to Meconium ileus
Genomic newborn screening: BabyScreen+ v0.0 GTF2H5 Zornitza Stark gene: GTF2H5 was added
gene: GTF2H5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GTF2H5 were set to Trichothiodystrophy
Genomic newborn screening: BabyScreen+ v0.0 GRIN2A Zornitza Stark gene: GRIN2A was added
gene: GRIN2A was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: GRIN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GRIN2A were set to Epilepsy with neurodevelopmental defects
Genomic newborn screening: BabyScreen+ v0.0 GPX1 Zornitza Stark gene: GPX1 was added
gene: GPX1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: GPX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPX1 were set to Hemolytic anemia due to glutathione peroxidase deficiency
Genomic newborn screening: BabyScreen+ v0.0 GPHN Zornitza Stark gene: GPHN was added
gene: GPHN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: GPHN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPHN were set to Hyperekplexia
Genomic newborn screening: BabyScreen+ v0.0 GPC6 Zornitza Stark gene: GPC6 was added
gene: GPC6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: GPC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPC6 were set to Omodysplasia
Genomic newborn screening: BabyScreen+ v0.0 GPC4 Zornitza Stark gene: GPC4 was added
gene: GPC4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: GPC4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GPC4 were set to Simpson-Golabi-Behmel syndrome
Genomic newborn screening: BabyScreen+ v0.0 GMPPA Zornitza Stark gene: GMPPA was added
gene: GMPPA was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: GMPPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GMPPA were set to Congenital disorder of glycosylation
Genomic newborn screening: BabyScreen+ v0.0 GLUL Zornitza Stark gene: GLUL was added
gene: GLUL was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: GLUL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLUL were set to Congenital brain dysgenesis due to glutamine synthetase deficiency
Genomic newborn screening: BabyScreen+ v0.0 GLRB Zornitza Stark Source Expert Review Red was added to GLRB.
Source BabySeq Category C gene was added to GLRB.
Added phenotypes Hyperekplexia 2, autosomal recessive for gene: GLRB
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 GLIS3 Zornitza Stark Source Expert Review Red was added to GLIS3.
Source BabySeq Category C gene was added to GLIS3.
Added phenotypes Diabetes mellitus, neonatal, with congenital hypothyroidism for gene: GLIS3
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 GLI2 Zornitza Stark gene: GLI2 was added
gene: GLI2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: GLI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GLI2 were set to Holoprosencephaly-9
Genomic newborn screening: BabyScreen+ v0.0 GLE1 Zornitza Stark gene: GLE1 was added
gene: GLE1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: GLE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLE1 were set to Lethal arthrogryposis with anterior horn cell disease
Genomic newborn screening: BabyScreen+ v0.0 GFER Zornitza Stark gene: GFER was added
gene: GFER was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: GFER was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GFER were set to Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
Genomic newborn screening: BabyScreen+ v0.0 GDNF Zornitza Stark gene: GDNF was added
gene: GDNF was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: GDNF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GDNF were set to Hirschsprung disease; Central hypoventilation syndrome
Genomic newborn screening: BabyScreen+ v0.0 GDF1 Zornitza Stark gene: GDF1 was added
gene: GDF1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: GDF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GDF1 were set to Congenital heart defects
Genomic newborn screening: BabyScreen+ v0.0 GCSH Zornitza Stark gene: GCSH was added
gene: GCSH was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: GCSH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GCSH were set to Glycine encephalopathy
Genomic newborn screening: BabyScreen+ v0.0 GCLC Zornitza Stark gene: GCLC was added
gene: GCLC was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: GCLC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GCLC were set to Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency
Genomic newborn screening: BabyScreen+ v0.0 GBE1 Zornitza Stark gene: GBE1 was added
gene: GBE1 was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene
Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBE1 were set to Polyglucosan body disease, adult form; Glycogen storage disease IV
Genomic newborn screening: BabyScreen+ v0.0 GATAD1 Zornitza Stark gene: GATAD1 was added
gene: GATAD1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: GATAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GATAD1 were set to Cardiomyopathy, dilated, 2B
Genomic newborn screening: BabyScreen+ v0.0 GATA6 Zornitza Stark gene: GATA6 was added
gene: GATA6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GATA6 were set to Atrial fibrillation
Genomic newborn screening: BabyScreen+ v0.0 GATA5 Zornitza Stark gene: GATA5 was added
gene: GATA5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: GATA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GATA5 were set to Familial atrial fibrillation
Genomic newborn screening: BabyScreen+ v0.0 GATA1 Zornitza Stark Source Expert Review Red was added to GATA1.
Source BabySeq Category A gene was added to GATA1.
Source BabySeq Category C gene was added to GATA1.
Added phenotypes Dyserythropoietic anemia with thrombocytopenia; Porphyria, congenital erythropoietic for gene: GATA1
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 GABRA1 Zornitza Stark gene: GABRA1 was added
gene: GABRA1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: GABRA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GABRA1 were set to Epilepsy, idiopathic generalised
Genomic newborn screening: BabyScreen+ v0.0 FTCD Zornitza Stark gene: FTCD was added
gene: FTCD was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: FTCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FTCD were set to Glutamate formiminotransferase deficiency
Genomic newborn screening: BabyScreen+ v0.0 FSCN2 Zornitza Stark gene: FSCN2 was added
gene: FSCN2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: FSCN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FSCN2 were set to Retinitis pigmentosa
Genomic newborn screening: BabyScreen+ v0.0 FREM2 Zornitza Stark gene: FREM2 was added
gene: FREM2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: FREM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FREM2 were set to Fraser syndrome
Genomic newborn screening: BabyScreen+ v0.0 FREM1 Zornitza Stark gene: FREM1 was added
gene: FREM1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: FREM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FREM1 were set to Manitoba oculotrichoanal syndrome
Genomic newborn screening: BabyScreen+ v0.0 FOXN1 Zornitza Stark Source Expert Review Red was added to FOXN1.
Source BabySeq Category C gene was added to FOXN1.
Mode of inheritance for gene FOXN1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Congenital alopecia with T-cell immunodeficiency for gene: FOXN1
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 FOXH1 Zornitza Stark gene: FOXH1 was added
gene: FOXH1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: FOXH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FOXH1 were set to Congenital heart defects
Genomic newborn screening: BabyScreen+ v0.0 FOXF2 Zornitza Stark gene: FOXF2 was added
gene: FOXF2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: FOXF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FOXF2 were set to Disorders of sex development with cleft palate
Genomic newborn screening: BabyScreen+ v0.0 FOXE1 Zornitza Stark gene: FOXE1 was added
gene: FOXE1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: FOXE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOXE1 were set to Bamforth-Lazarus syndrome
Genomic newborn screening: BabyScreen+ v0.0 FMO3 Zornitza Stark gene: FMO3 was added
gene: FMO3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: FMO3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FMO3 were set to Trimethylaminuria
Genomic newborn screening: BabyScreen+ v0.0 FLNC Zornitza Stark gene: FLNC was added
gene: FLNC was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FLNC were set to Myofibrillar myopathy
Genomic newborn screening: BabyScreen+ v0.0 FLG Zornitza Stark gene: FLG was added
gene: FLG was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: FLG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FLG were set to Ichthyosis vulgaris
Genomic newborn screening: BabyScreen+ v0.0 FKBPL Zornitza Stark gene: FKBPL was added
gene: FKBPL was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: FKBPL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FKBPL were set to Infertility
Genomic newborn screening: BabyScreen+ v0.0 FHL2 Zornitza Stark gene: FHL2 was added
gene: FHL2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: FHL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FHL2 were set to Cardiomyopathy, hypertrophic
Genomic newborn screening: BabyScreen+ v0.0 FHL1 Zornitza Stark gene: FHL1 was added
gene: FHL1 was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene
Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FHL1 were set to Myofibrillar myopathy; Emery-Dreifuss muscular dystrophy
Genomic newborn screening: BabyScreen+ v0.0 FBLN5 Zornitza Stark gene: FBLN5 was added
gene: FBLN5 was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene
Mode of inheritance for gene: FBLN5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FBLN5 were set to Age-related macular degeneration; Cutis laxa
Genomic newborn screening: BabyScreen+ v0.0 FANCM Zornitza Stark gene: FANCM was added
gene: FANCM was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: FANCM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCM were set to Fanconi anaemia
Genomic newborn screening: BabyScreen+ v0.0 FANCL Zornitza Stark Source Expert Review Red was added to FANCL.
Source BabySeq Category C gene was added to FANCL.
Added phenotypes Fanconi anaemia for gene: FANCL
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 FANCF Zornitza Stark Source Expert Review Red was added to FANCF.
Source BabySeq Category C gene was added to FANCF.
Added phenotypes Fanconi anaemia for gene: FANCF
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 FANCE Zornitza Stark Source Expert Review Red was added to FANCE.
Source BabySeq Category C gene was added to FANCE.
Added phenotypes Fanconi anaemia for gene: FANCE
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 FAM111B Zornitza Stark gene: FAM111B was added
gene: FAM111B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: FAM111B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FAM111B were set to Hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis
Genomic newborn screening: BabyScreen+ v0.0 FAAH2 Zornitza Stark gene: FAAH2 was added
gene: FAAH2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: FAAH2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FAAH2 were set to Autism spectrum disorder
Genomic newborn screening: BabyScreen+ v0.0 F13B Zornitza Stark Source Expert list was added to F13B.
Source Expert Review Red was added to F13B.
Added phenotypes Factor XIIIB deficiency MIM# 613235 for gene: F13B
Publications for gene F13B were updated from to PMID: 31013569
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 ERCC4 Zornitza Stark Source Expert Review Red was added to ERCC4.
Source BabySeq Category C gene was added to ERCC4.
Added phenotypes Xeroderma pigmentosum for gene: ERCC4
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 ERCC3 Zornitza Stark gene: ERCC3 was added
gene: ERCC3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ERCC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC3 were set to Xeroderma pigmentosum
Genomic newborn screening: BabyScreen+ v0.0 ERCC1 Zornitza Stark gene: ERCC1 was added
gene: ERCC1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ERCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC1 were set to Xeroderma pigmentosum
Genomic newborn screening: BabyScreen+ v0.0 ERBB3 Zornitza Stark gene: ERBB3 was added
gene: ERBB3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ERBB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERBB3 were set to Lethal congenital contractural syndrome 2
Genomic newborn screening: BabyScreen+ v0.0 EPHX1 Zornitza Stark gene: EPHX1 was added
gene: EPHX1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: EPHX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EPHX1 were set to Hypercholanemia, familial
Genomic newborn screening: BabyScreen+ v0.0 EPCAM Zornitza Stark gene: EPCAM was added
gene: EPCAM was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: EPCAM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EPCAM were set to Lynch syndrome
Genomic newborn screening: BabyScreen+ v0.0 EPB42 Zornitza Stark gene: EPB42 was added
gene: EPB42 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: EPB42 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EPB42 were set to Spherocytosis
Genomic newborn screening: BabyScreen+ v0.0 EIF2B1 Zornitza Stark gene: EIF2B1 was added
gene: EIF2B1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: EIF2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B1 were set to Leukoencephalopathy with vanishing white matter
Genomic newborn screening: BabyScreen+ v0.0 EFHC1 Zornitza Stark gene: EFHC1 was added
gene: EFHC1 was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene
Mode of inheritance for gene: EFHC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EFHC1 were set to 33181902; 28370826; 33969125; 29750216; 31056551
Phenotypes for gene: EFHC1 were set to {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770; {Epilepsy, juvenile absence, susceptibility to, 1}, 607631
Genomic newborn screening: BabyScreen+ v0.0 EFEMP2 Zornitza Stark gene: EFEMP2 was added
gene: EFEMP2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: EFEMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EFEMP2 were set to Cutis laxa, autosomal recessive, type IB
Genomic newborn screening: BabyScreen+ v0.0 ECE1 Zornitza Stark gene: ECE1 was added
gene: ECE1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ECE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ECE1 were set to Hirschsprung disease
Genomic newborn screening: BabyScreen+ v0.0 DTNBP1 Zornitza Stark gene: DTNBP1 was added
gene: DTNBP1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DTNBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DTNBP1 were set to Hermansky-Pudlak syndrome 7
Genomic newborn screening: BabyScreen+ v0.0 DTNA Zornitza Stark gene: DTNA was added
gene: DTNA was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DTNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DTNA were set to Left ventricular noncompaction 1
Genomic newborn screening: BabyScreen+ v0.0 DTHD1 Zornitza Stark gene: DTHD1 was added
gene: DTHD1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DTHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DTHD1 were set to Leber congenital amaurosis with myopathy
Genomic newborn screening: BabyScreen+ v0.0 DPYD Zornitza Stark gene: DPYD was added
gene: DPYD was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DPYD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DPYD were set to Dihydropyrimidine dehydrogenase deficiency
Genomic newborn screening: BabyScreen+ v0.0 DPP6 Zornitza Stark gene: DPP6 was added
gene: DPP6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DPP6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DPP6 were set to Ventricular fibrillation, paroxysmal familial, 2
Genomic newborn screening: BabyScreen+ v0.0 DPM1 Zornitza Stark gene: DPM1 was added
gene: DPM1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DPM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DPM1 were set to Congenital disorder of glycosylation, type Ie
Genomic newborn screening: BabyScreen+ v0.0 DNAL1 Zornitza Stark gene: DNAL1 was added
gene: DNAL1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DNAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAL1 were set to Primary ciliary dyskinesia
Genomic newborn screening: BabyScreen+ v0.0 DNAJC5 Zornitza Stark gene: DNAJC5 was added
gene: DNAJC5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DNAJC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DNAJC5 were set to Neuronal ceroid lipofuscinosis, adult-onset
Genomic newborn screening: BabyScreen+ v0.0 DNAJC19 Zornitza Stark gene: DNAJC19 was added
gene: DNAJC19 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAJC19 were set to 3-methylglutaconic aciduria, type V
Genomic newborn screening: BabyScreen+ v0.0 DNAI2 Zornitza Stark gene: DNAI2 was added
gene: DNAI2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DNAI2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAI2 were set to Primary ciliary dyskinesia
Genomic newborn screening: BabyScreen+ v0.0 DNAAF5 Zornitza Stark gene: DNAAF5 was added
gene: DNAAF5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DNAAF5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF5 were set to Primary ciliary dyskinesia
Genomic newborn screening: BabyScreen+ v0.0 DNAAF3 Zornitza Stark gene: DNAAF3 was added
gene: DNAAF3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DNAAF3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF3 were set to Primary ciliary dyskinesia
Genomic newborn screening: BabyScreen+ v0.0 DNAAF2 Zornitza Stark gene: DNAAF2 was added
gene: DNAAF2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DNAAF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF2 were set to Primary ciliary dyskinesia
Genomic newborn screening: BabyScreen+ v0.0 DLC1 Zornitza Stark gene: DLC1 was added
gene: DLC1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DLC1 were set to Congenital heart disease
Genomic newborn screening: BabyScreen+ v0.0 DIABLO Zornitza Stark gene: DIABLO was added
gene: DIABLO was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DIABLO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DIABLO were set to Deafness, autosomal dominant
Genomic newborn screening: BabyScreen+ v0.0 DHCR24 Zornitza Stark gene: DHCR24 was added
gene: DHCR24 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHCR24 were set to Desmosterolosis
Genomic newborn screening: BabyScreen+ v0.0 DGKE Zornitza Stark gene: DGKE was added
gene: DGKE was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DGKE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DGKE were set to Haemolytic uraemic syndrome, atypical
Genomic newborn screening: BabyScreen+ v0.0 DECR1 Zornitza Stark gene: DECR1 was added
gene: DECR1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DECR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DECR1 were set to 2,4-Dienoyl-CoA reductase deficiency
Genomic newborn screening: BabyScreen+ v0.0 DDR2 Zornitza Stark gene: DDR2 was added
gene: DDR2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DDR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDR2 were set to Spondylometaepiphyseal dysplasia, short limb-hand type
Genomic newborn screening: BabyScreen+ v0.0 DDOST Zornitza Stark gene: DDOST was added
gene: DDOST was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DDOST was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDOST were set to Congenital disorder of glycosylation, type Ir
Genomic newborn screening: BabyScreen+ v0.0 DDHD1 Zornitza Stark gene: DDHD1 was added
gene: DDHD1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DDHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDHD1 were set to Spastic paraplegia
Genomic newborn screening: BabyScreen+ v0.0 DCTN1 Zornitza Stark gene: DCTN1 was added
gene: DCTN1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DCTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DCTN1 were set to Amyotrophic lateral sclerosis
Genomic newborn screening: BabyScreen+ v0.0 DBH Zornitza Stark gene: DBH was added
gene: DBH was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DBH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DBH were set to Dopamine beta-hydroxylase deficiency
Genomic newborn screening: BabyScreen+ v0.0 DAPK3 Zornitza Stark gene: DAPK3 was added
gene: DAPK3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DAPK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DAPK3 were set to Congenital heart disease
Genomic newborn screening: BabyScreen+ v0.0 DAG1 Zornitza Stark gene: DAG1 was added
gene: DAG1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DAG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DAG1 were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9
Genomic newborn screening: BabyScreen+ v0.0 CYP7B1 Zornitza Stark gene: CYP7B1 was added
gene: CYP7B1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP7B1 were set to Cholestasis, severe
Genomic newborn screening: BabyScreen+ v0.0 CYP7A1 Zornitza Stark gene: CYP7A1 was added
gene: CYP7A1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CYP7A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP7A1 were set to Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
Genomic newborn screening: BabyScreen+ v0.0 CYCS Zornitza Stark gene: CYCS was added
gene: CYCS was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CYCS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CYCS were set to Thrombocytopenia 4
Genomic newborn screening: BabyScreen+ v0.0 CTF1 Zornitza Stark gene: CTF1 was added
gene: CTF1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CTF1 was set to Unknown
Phenotypes for gene: CTF1 were set to Cardiomyopathy, dilated
Genomic newborn screening: BabyScreen+ v0.0 CTDP1 Zornitza Stark gene: CTDP1 was added
gene: CTDP1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CTDP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTDP1 were set to Congenital cataracts - facial dysmorphism - neuropathy
Genomic newborn screening: BabyScreen+ v0.0 CSTA Zornitza Stark gene: CSTA was added
gene: CSTA was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CSTA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CSTA were set to Exfoliative ichthyosis
Genomic newborn screening: BabyScreen+ v0.0 CSRP3 Zornitza Stark gene: CSRP3 was added
gene: CSRP3 was added to gNBS. Sources: Expert Review Red,BabySeq Category B gene,BabySeq Category C gene
Mode of inheritance for gene: CSRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CSRP3 were set to Cardiomyopathy, dilated, 1M; Cardiomyopathy, familial hypertrophic, 12
Genomic newborn screening: BabyScreen+ v0.0 CSF2RB Zornitza Stark gene: CSF2RB was added
gene: CSF2RB was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CSF2RB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CSF2RB were set to Pulmonary alveolar proteinosis
Genomic newborn screening: BabyScreen+ v0.0 CSF1R Zornitza Stark gene: CSF1R was added
gene: CSF1R was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CSF1R was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CSF1R were set to Leukoencephalopathy, diffuse hereditary, with spheroids
Genomic newborn screening: BabyScreen+ v0.0 CRELD1 Zornitza Stark gene: CRELD1 was added
gene: CRELD1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CRELD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CRELD1 were set to Cardiac atrioventricular septal defect
Genomic newborn screening: BabyScreen+ v0.0 CR2 Zornitza Stark gene: CR2 was added
gene: CR2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CR2 were set to Hypogammaglobulinaemia
Genomic newborn screening: BabyScreen+ v0.0 CPZ Zornitza Stark gene: CPZ was added
gene: CPZ was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CPZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CPZ were set to Autism
Genomic newborn screening: BabyScreen+ v0.0 CPOX Zornitza Stark Source Expert Review Red was added to CPOX.
Source BabySeq Category C gene was added to CPOX.
Mode of inheritance for gene CPOX was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Coproporphyria for gene: CPOX
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 COX4I2 Zornitza Stark gene: COX4I2 was added
gene: COX4I2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: COX4I2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX4I2 were set to Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
Genomic newborn screening: BabyScreen+ v0.0 COQ6 Zornitza Stark Source Expert Review Red was added to COQ6.
Source BabySeq Category C gene was added to COQ6.
Added phenotypes Nephrotic syndrome with sensorineural deafness for gene: COQ6
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 COQ2 Zornitza Stark Source Expert Review Red was added to COQ2.
Source BabySeq Category C gene was added to COQ2.
Added phenotypes Coenzyme Q10 deficiency, primary, 1 for gene: COQ2
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 COG7 Zornitza Stark gene: COG7 was added
gene: COG7 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: COG7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COG7 were set to Congenital disorder of glycosylation, type IIe
Genomic newborn screening: BabyScreen+ v0.0 COG4 Zornitza Stark gene: COG4 was added
gene: COG4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: COG4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COG4 were set to Congenital disorder of glycosylation, type IIj
Genomic newborn screening: BabyScreen+ v0.0 CNTNAP2 Zornitza Stark gene: CNTNAP2 was added
gene: CNTNAP2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CNTNAP2 was set to Unknown
Phenotypes for gene: CNTNAP2 were set to Autism spectrum disorder
Genomic newborn screening: BabyScreen+ v0.0 CLMP Zornitza Stark gene: CLMP was added
gene: CLMP was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CLMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLMP were set to Congenital short-bowel syndrome
Genomic newborn screening: BabyScreen+ v0.0 CLDN1 Zornitza Stark gene: CLDN1 was added
gene: CLDN1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CLDN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLDN1 were set to Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
Genomic newborn screening: BabyScreen+ v0.0 CLCN1 Zornitza Stark gene: CLCN1 was added
gene: CLCN1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CLCN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CLCN1 were set to Myotonia congenita, recessive, MIM# 255700; Myotonia congenita, dominant, MIM# 160800
Genomic newborn screening: BabyScreen+ v0.0 CITED2 Zornitza Stark gene: CITED2 was added
gene: CITED2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CITED2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CITED2 were set to Congenital heart defects
Genomic newborn screening: BabyScreen+ v0.0 CISD2 Zornitza Stark gene: CISD2 was added
gene: CISD2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CISD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CISD2 were set to Wolfram syndrome
Genomic newborn screening: BabyScreen+ v0.0 CHSY1 Zornitza Stark gene: CHSY1 was added
gene: CHSY1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CHSY1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHSY1 were set to Temtamy preaxial brachydactyly syndrome
Genomic newborn screening: BabyScreen+ v0.0 CHST3 Zornitza Stark gene: CHST3 was added
gene: CHST3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CHST3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHST3 were set to Larsen syndrome
Genomic newborn screening: BabyScreen+ v0.0 CHRNB1 Zornitza Stark Source Expert Review Red was added to CHRNB1.
Source BabySeq Category C gene was added to CHRNB1.
Added phenotypes Congenital myasthenic syndrome for gene: CHRNB1
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 CHRNA2 Zornitza Stark gene: CHRNA2 was added
gene: CHRNA2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CHRNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CHRNA2 were set to Epilepsy
Genomic newborn screening: BabyScreen+ v0.0 CHRM2 Zornitza Stark gene: CHRM2 was added
gene: CHRM2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CHRM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CHRM2 were set to Cardiomyopathy, dilated
Genomic newborn screening: BabyScreen+ v0.0 CHEK2 Zornitza Stark gene: CHEK2 was added
gene: CHEK2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CHEK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CHEK2 were set to Breast cancer, susceptibility to
Genomic newborn screening: BabyScreen+ v0.0 CFI Zornitza Stark gene: CFI was added
gene: CFI was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CFI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFI were set to Haemolytic uraemic syndrome
Genomic newborn screening: BabyScreen+ v0.0 CFHR5 Zornitza Stark gene: CFHR5 was added
gene: CFHR5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CFHR5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CFHR5 were set to Haemolytic uraemic syndrome
Genomic newborn screening: BabyScreen+ v0.0 CFHR4 Zornitza Stark gene: CFHR4 was added
gene: CFHR4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CFHR4 was set to Unknown
Phenotypes for gene: CFHR4 were set to Hemolytic-uremic syndrome, atypical, susceptibility to
Genomic newborn screening: BabyScreen+ v0.0 CFHR3 Zornitza Stark gene: CFHR3 was added
gene: CFHR3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CFHR3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFHR3 were set to Haemolytic uraemic syndrome
Genomic newborn screening: BabyScreen+ v0.0 CFHR1 Zornitza Stark gene: CFHR1 was added
gene: CFHR1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CFHR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFHR1 were set to Haemolytic uraemic syndrome
Genomic newborn screening: BabyScreen+ v0.0 CFH Zornitza Stark gene: CFH was added
gene: CFH was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CFH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFH were set to Haemolytic uraemic syndrome
Genomic newborn screening: BabyScreen+ v0.0 CFD Zornitza Stark Source Expert Review Red was added to CFD.
Source BabySeq Category C gene was added to CFD.
Added phenotypes Complement factor D deficiency for gene: CFD
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 CFB Zornitza Stark Source Expert Review Red was added to CFB.
Source BabySeq Category C gene was added to CFB.
Added phenotypes Haemolytic uraemic syndrome for gene: CFB
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 CEP41 Zornitza Stark gene: CEP41 was added
gene: CEP41 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CEP41 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP41 were set to Joubert syndrome
Genomic newborn screening: BabyScreen+ v0.0 CENPJ Zornitza Stark gene: CENPJ was added
gene: CENPJ was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CENPJ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CENPJ were set to Primary microcephaly
Genomic newborn screening: BabyScreen+ v0.0 CEACAM16 Zornitza Stark gene: CEACAM16 was added
gene: CEACAM16 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CEACAM16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CEACAM16 were set to Hearing loss, autosomal dominant
Genomic newborn screening: BabyScreen+ v0.0 CDON Zornitza Stark gene: CDON was added
gene: CDON was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CDON was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CDON were set to Holoprosencephaly
Genomic newborn screening: BabyScreen+ v0.0 CDH1 Zornitza Stark gene: CDH1 was added
gene: CDH1 was added to gNBS. Sources: Expert Review Red,BabySeq Category B gene,BabySeq Category C gene
Mode of inheritance for gene: CDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CDH1 were set to Orofacial clefts; Gastric cancer
Genomic newborn screening: BabyScreen+ v0.0 CD96 Zornitza Stark gene: CD96 was added
gene: CD96 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CD96 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD96 were set to C syndrome
Genomic newborn screening: BabyScreen+ v0.0 CD46 Zornitza Stark gene: CD46 was added
gene: CD46 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CD46 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD46 were set to Haemolytic uraemic syndrome
Genomic newborn screening: BabyScreen+ v0.0 CD36 Zornitza Stark gene: CD36 was added
gene: CD36 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CD36 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD36 were set to Platelet glycoprotein IV deficiency
Genomic newborn screening: BabyScreen+ v0.0 CD2AP Zornitza Stark gene: CD2AP was added
gene: CD2AP was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CD2AP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD2AP were set to Glomerulosclerosis, focal segmental, 3
Genomic newborn screening: BabyScreen+ v0.0 CCDC88C Zornitza Stark gene: CCDC88C was added
gene: CCDC88C was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CCDC88C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC88C were set to Hydrocephalus
Genomic newborn screening: BabyScreen+ v0.0 CCDC78 Zornitza Stark gene: CCDC78 was added
gene: CCDC78 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CCDC78 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CCDC78 were set to Congenital myopathy with prominent internal nuclei and atypical cores
Genomic newborn screening: BabyScreen+ v0.0 CCDC50 Zornitza Stark gene: CCDC50 was added
gene: CCDC50 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CCDC50 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CCDC50 were set to 27911912; 24875298; 17503326
Phenotypes for gene: CCDC50 were set to Deafness, autosomal dominant 44 , MIM# 607453
Genomic newborn screening: BabyScreen+ v0.0 CCDC103 Zornitza Stark gene: CCDC103 was added
gene: CCDC103 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CCDC103 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC103 were set to Primary ciliary dyskinesia
Genomic newborn screening: BabyScreen+ v0.0 CAVIN4 Zornitza Stark gene: CAVIN4 was added
gene: CAVIN4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CAVIN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CAVIN4 were set to Cardiomyopathy, dilated
Genomic newborn screening: BabyScreen+ v0.0 CASP10 Zornitza Stark gene: CASP10 was added
gene: CASP10 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CASP10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CASP10 were set to Autoimmune lymphoproliferative syndrome II
Genomic newborn screening: BabyScreen+ v0.0 CARS2 Zornitza Stark gene: CARS2 was added
gene: CARS2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CARS2 were set to Epileptic encephalopathy
Genomic newborn screening: BabyScreen+ v0.0 CACNB2 Zornitza Stark gene: CACNB2 was added
gene: CACNB2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CACNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CACNB2 were set to Brugada syndrome
Genomic newborn screening: BabyScreen+ v0.0 CACNA2D1 Zornitza Stark gene: CACNA2D1 was added
gene: CACNA2D1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CACNA2D1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CACNA2D1 were set to Brugada syndrome
Genomic newborn screening: BabyScreen+ v0.0 CACNA1S Zornitza Stark gene: CACNA1S was added
gene: CACNA1S was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CACNA1S was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CACNA1S were set to Malignant hyperthermia
Genomic newborn screening: BabyScreen+ v0.0 CACNA1D Zornitza Stark Source Expert Review Red was added to CACNA1D.
Source BabySeq Category C gene was added to CACNA1D.
Mode of inheritance for gene CACNA1D was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Sinoatrial node dysfunction and deafness for gene: CACNA1D
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 C3 Zornitza Stark Source Expert Review Red was added to C3.
Source BabySeq Category C gene was added to C3.
Added phenotypes Haemolytic uraemic syndrome for gene: C3
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 BVES Zornitza Stark gene: BVES was added
gene: BVES was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: BVES was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BVES were set to Congenital heart disease
Genomic newborn screening: BabyScreen+ v0.0 BRCA2 Zornitza Stark Source Expert Review Red was added to BRCA2.
Source BabySeq Category A gene was added to BRCA2.
Source BabySeq Category C gene was added to BRCA2.
Mode of inheritance for gene BRCA2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Fanconi anemia, complementation group D1; Breast-ovarian cancer, familial, 2 for gene: BRCA2
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 BRCA1 Zornitza Stark gene: BRCA1 was added
gene: BRCA1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: BRCA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BRCA1 were set to Breast-ovarian cancer, familial, 1
Genomic newborn screening: BabyScreen+ v0.0 BPGM Zornitza Stark gene: BPGM was added
gene: BPGM was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: BPGM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BPGM were set to Erythrocytosis due to bisphosphoglycerate mutase deficiency
Genomic newborn screening: BabyScreen+ v0.0 BNC2 Zornitza Stark gene: BNC2 was added
gene: BNC2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: BNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BNC2 were set to Total anomalous pulmonary venous return
Genomic newborn screening: BabyScreen+ v0.0 BLOC1S6 Zornitza Stark gene: BLOC1S6 was added
gene: BLOC1S6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: BLOC1S6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BLOC1S6 were set to Hermansky-pudlak syndrome 9
Genomic newborn screening: BabyScreen+ v0.0 BLOC1S3 Zornitza Stark gene: BLOC1S3 was added
gene: BLOC1S3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: BLOC1S3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BLOC1S3 were set to Hermansky-Pudlak syndrome 8
Genomic newborn screening: BabyScreen+ v0.0 BDNF Zornitza Stark gene: BDNF was added
gene: BDNF was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: BDNF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BDNF were set to Central hypoventilation syndrome
Genomic newborn screening: BabyScreen+ v0.0 BCL9 Zornitza Stark gene: BCL9 was added
gene: BCL9 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: BCL9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BCL9 were set to Congenital heart disease
Genomic newborn screening: BabyScreen+ v0.0 BARD1 Zornitza Stark gene: BARD1 was added
gene: BARD1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: BARD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BARD1 were set to Tetralogy of Fallot
Genomic newborn screening: BabyScreen+ v0.0 BANF1 Zornitza Stark gene: BANF1 was added
gene: BANF1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: BANF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BANF1 were set to Progeroid syndrome
Genomic newborn screening: BabyScreen+ v0.0 BAG3 Zornitza Stark gene: BAG3 was added
gene: BAG3 was added to gNBS. Sources: Expert Review Red,BabySeq Category B gene,BabySeq Category C gene
Mode of inheritance for gene: BAG3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BAG3 were set to Myopathy, myofibrillar; Cardiomyopathy, dilated
Genomic newborn screening: BabyScreen+ v0.0 B9D2 Zornitza Stark gene: B9D2 was added
gene: B9D2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: B9D2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B9D2 were set to Meckel syndrome
Genomic newborn screening: BabyScreen+ v0.0 B4GALT1 Zornitza Stark gene: B4GALT1 was added
gene: B4GALT1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: B4GALT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B4GALT1 were set to CDG syndrome type IId
Genomic newborn screening: BabyScreen+ v0.0 B3GAT3 Zornitza Stark gene: B3GAT3 was added
gene: B3GAT3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GAT3 were set to Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
Genomic newborn screening: BabyScreen+ v0.0 AXL Zornitza Stark gene: AXL was added
gene: AXL was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: AXL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AXL were set to Hypogonadotropic hypogonadism
Genomic newborn screening: BabyScreen+ v0.0 ATR Zornitza Stark gene: ATR was added
gene: ATR was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ATR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATR were set to Seckel syndrome
Genomic newborn screening: BabyScreen+ v0.0 ATP6AP2 Zornitza Stark gene: ATP6AP2 was added
gene: ATP6AP2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ATP6AP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATP6AP2 were set to X-linked recessive intellectual deficit - epilepsy
Genomic newborn screening: BabyScreen+ v0.0 ATP1A3 Zornitza Stark gene: ATP1A3 was added
gene: ATP1A3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATP1A3 were set to Rapid-onset dystonia-parkinsonism
Genomic newborn screening: BabyScreen+ v0.0 ATN1 Zornitza Stark gene: ATN1 was added
gene: ATN1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATN1 were set to Dentatorubral-pallidoluysian atrophy 1
Genomic newborn screening: BabyScreen+ v0.0 ATIC Zornitza Stark gene: ATIC was added
gene: ATIC was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ATIC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATIC were set to AICA-Ribosiduria
Genomic newborn screening: BabyScreen+ v0.0 ASNS Zornitza Stark gene: ASNS was added
gene: ASNS was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ASNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASNS were set to Microcephaly, intellectual disability, cerebral atrophy & intractable seizures
Genomic newborn screening: BabyScreen+ v0.0 ASCL1 Zornitza Stark gene: ASCL1 was added
gene: ASCL1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ASCL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ASCL1 were set to Congenital central hypoventilation
Genomic newborn screening: BabyScreen+ v0.0 ARSE Zornitza Stark gene: ARSE was added
gene: ARSE was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ARSE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ARSE were set to Chondrodysplasia punctata, X-linked recessive
Genomic newborn screening: BabyScreen+ v0.0 ARL13B Zornitza Stark gene: ARL13B was added
gene: ARL13B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ARL13B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARL13B were set to Joubert syndrome
Genomic newborn screening: BabyScreen+ v0.0 ARID1A Zornitza Stark gene: ARID1A was added
gene: ARID1A was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ARID1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ARID1A were set to Coffin-Siris syndrome
Genomic newborn screening: BabyScreen+ v0.0 ARHGEF9 Zornitza Stark gene: ARHGEF9 was added
gene: ARHGEF9 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ARHGEF9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ARHGEF9 were set to Hyperekplexia and epilepsy
Genomic newborn screening: BabyScreen+ v0.0 ARHGAP31 Zornitza Stark gene: ARHGAP31 was added
gene: ARHGAP31 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ARHGAP31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ARHGAP31 were set to Syndromic cutis aplasia & limb anomalies
Genomic newborn screening: BabyScreen+ v0.0 APP Zornitza Stark gene: APP was added
gene: APP was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: APP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: APP were set to Alzheimer disease 1, familial
Genomic newborn screening: BabyScreen+ v0.0 APOE Zornitza Stark gene: APOE was added
gene: APOE was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: APOE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APOE were set to Sea-blue histiocyte disease
Genomic newborn screening: BabyScreen+ v0.0 AP1S3 Zornitza Stark gene: AP1S3 was added
gene: AP1S3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: AP1S3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AP1S3 were set to Pustular psoriasis
Genomic newborn screening: BabyScreen+ v0.0 ANO5 Zornitza Stark gene: ANO5 was added
gene: ANO5 was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene
Mode of inheritance for gene: ANO5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ANO5 were set to Muscular dystrophy, limb-girdle, type 2L; Gnathodiaphyseal dysplasia
Genomic newborn screening: BabyScreen+ v0.0 ANKRD1 Zornitza Stark gene: ANKRD1 was added
gene: ANKRD1 was added to gNBS. Sources: Expert Review Red,BabySeq Category B gene,BabySeq Category C gene
Mode of inheritance for gene: ANKRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ANKRD1 were set to Cardiomyopathy, hypertrophic; Cardiomyopathy, dilated
Genomic newborn screening: BabyScreen+ v0.0 AMPD1 Zornitza Stark gene: AMPD1 was added
gene: AMPD1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: AMPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AMPD1 were set to Adenosine monophosphate deaminase deficiency
Genomic newborn screening: BabyScreen+ v0.0 AMACR Zornitza Stark gene: AMACR was added
gene: AMACR was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AMACR were set to Alpha-methylacyl-CoA racemase deficiency; Bile acid synthesis defect, congenital, 4
Genomic newborn screening: BabyScreen+ v0.0 ALG2 Zornitza Stark gene: ALG2 was added
gene: ALG2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ALG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG2 were set to Congenital disorder of glycosylation, type Ii
Genomic newborn screening: BabyScreen+ v0.0 ALG11 Zornitza Stark gene: ALG11 was added
gene: ALG11 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ALG11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG11 were set to Congenital disorder of glycosylation type 1P
Genomic newborn screening: BabyScreen+ v0.0 ALDOA Zornitza Stark gene: ALDOA was added
gene: ALDOA was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ALDOA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDOA were set to Aldolase A deficiency
Genomic newborn screening: BabyScreen+ v0.0 ALDH4A1 Zornitza Stark gene: ALDH4A1 was added
gene: ALDH4A1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ALDH4A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH4A1 were set to Hyperprolinemia, type II
Genomic newborn screening: BabyScreen+ v0.0 ALDH1A2 Zornitza Stark gene: ALDH1A2 was added
gene: ALDH1A2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ALDH1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ALDH1A2 were set to Tetralogy of Fallot
Genomic newborn screening: BabyScreen+ v0.0 AKT3 Zornitza Stark gene: AKT3 was added
gene: AKT3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AKT3 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
Genomic newborn screening: BabyScreen+ v0.0 AKT2 Zornitza Stark gene: AKT2 was added
gene: AKT2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AKT2 were set to Severe insulin resistance and diabetes mellitus
Genomic newborn screening: BabyScreen+ v0.0 AKAP9 Zornitza Stark gene: AKAP9 was added
gene: AKAP9 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: AKAP9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AKAP9 were set to Long QT syndrome
Genomic newborn screening: BabyScreen+ v0.0 AK1 Zornitza Stark gene: AK1 was added
gene: AK1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: AK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AK1 were set to Hemolytic anemia due to adenylate kinase deficiency
Genomic newborn screening: BabyScreen+ v0.0 AHSP Zornitza Stark gene: AHSP was added
gene: AHSP was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: AHSP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AHSP were set to Thalassaemia
Genomic newborn screening: BabyScreen+ v0.0 AGTR1 Zornitza Stark gene: AGTR1 was added
gene: AGTR1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: AGTR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGTR1 were set to Renal tubular dysgenesis
Genomic newborn screening: BabyScreen+ v0.0 AGT Zornitza Stark gene: AGT was added
gene: AGT was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: AGT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGT were set to Renal tubular dysgenesis
Genomic newborn screening: BabyScreen+ v0.0 AGPS Zornitza Stark gene: AGPS was added
gene: AGPS was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGPS were set to Rhizomelic chondrodysplasia punctata, type 3
Genomic newborn screening: BabyScreen+ v0.0 ADAMTS2 Zornitza Stark gene: ADAMTS2 was added
gene: ADAMTS2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ADAMTS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTS2 were set to Ehlers-Danlos syndrome VIIc
Genomic newborn screening: BabyScreen+ v0.0 ADAM17 Zornitza Stark gene: ADAM17 was added
gene: ADAM17 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ADAM17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAM17 were set to Neonatal inflammatory skin and bowel disease
Genomic newborn screening: BabyScreen+ v0.0 ACVR2B Zornitza Stark gene: ACVR2B was added
gene: ACVR2B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ACVR2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACVR2B were set to Left-right axis malformation
Genomic newborn screening: BabyScreen+ v0.0 ACTN2 Zornitza Stark gene: ACTN2 was added
gene: ACTN2 was added to gNBS. Sources: Expert Review Red,BabySeq Category B gene,BabySeq Category C gene
Mode of inheritance for gene: ACTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTN2 were set to Cardiomyopathy, familial hypertrophic; Cardiomyopathy, dilated
Genomic newborn screening: BabyScreen+ v0.0 ACTC1 Zornitza Stark gene: ACTC1 was added
gene: ACTC1 was added to gNBS. Sources: Expert Review Red,BabySeq Category B gene,BabySeq Category C gene
Mode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTC1 were set to Atrial septal defect; Cardiomyopathy, familial hypertrophic; Left ventricular noncompaction; Cardiomyopathy, dilated
Genomic newborn screening: BabyScreen+ v0.0 ACTB Zornitza Stark gene: ACTB was added
gene: ACTB was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene
Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTB were set to Baraitser-Winter syndrome; Neutrophil dysfunction and recurrent infection
Genomic newborn screening: BabyScreen+ v0.0 ACTA1 Zornitza Stark gene: ACTA1 was added
gene: ACTA1 was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene
Mode of inheritance for gene: ACTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTA1 were set to Nemaline myopathy; Congenital myopathy with fiber type disproportion
Genomic newborn screening: BabyScreen+ v0.0 ACSF3 Zornitza Stark gene: ACSF3 was added
gene: ACSF3 was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene
Mode of inheritance for gene: ACSF3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACSF3 were set to 21841779; 30740739
Phenotypes for gene: ACSF3 were set to Combined malonic and methylmalonic aciduria
Genomic newborn screening: BabyScreen+ v0.0 ACO2 Zornitza Stark gene: ACO2 was added
gene: ACO2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ACO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACO2 were set to Cerebellar-retinal degeneration, infantile
Genomic newborn screening: BabyScreen+ v0.0 ACBD5 Zornitza Stark gene: ACBD5 was added
gene: ACBD5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ACBD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACBD5 were set to Thrombocytopaenia
Genomic newborn screening: BabyScreen+ v0.0 ACADSB Zornitza Stark gene: ACADSB was added
gene: ACADSB was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ACADSB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADSB were set to 2-Methylbutyryl-CoA dehydrogenase deficiency
Genomic newborn screening: BabyScreen+ v0.0 ACADS Zornitza Stark gene: ACADS was added
gene: ACADS was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ACADS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADS were set to Acyl-CoA dehydrogenase, short-chain, deficiency of 201470
Genomic newborn screening: BabyScreen+ v0.0 ACADL Zornitza Stark gene: ACADL was added
gene: ACADL was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ACADL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADL were set to Sudden infant death
Genomic newborn screening: BabyScreen+ v0.0 ABCD4 Zornitza Stark Source Expert Review Red was added to ABCD4.
Source BabySeq Category C gene was added to ABCD4.
Added phenotypes Methylmalonic aciduria and homocystinuria, cblJ type for gene: ABCD4
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 ABCC9 Zornitza Stark gene: ABCC9 was added
gene: ABCC9 was added to gNBS. Sources: BabySeq Category B gene,Expert Review Red,BabySeq Category A gene,BabySeq Category C gene
Mode of inheritance for gene: ABCC9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ABCC9 were set to Atrial fibrillation, familial; Cardiomyopathy, dilated; Hypertrichotic osteochondrodysplasia
Genomic newborn screening: BabyScreen+ v0.0 ABCB7 Zornitza Stark gene: ABCB7 was added
gene: ABCB7 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ABCB7 were set to Sideroblastic anaemia and ataxia
Genomic newborn screening: BabyScreen+ v0.0 ABAT Zornitza Stark gene: ABAT was added
gene: ABAT was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ABAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABAT were set to GABA-transaminase deficiency
Genomic newborn screening: BabyScreen+ v0.0 AARS2 Zornitza Stark gene: AARS2 was added
gene: AARS2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AARS2 were set to Leukoencephalopathy, and ovarian failure in females
Genomic newborn screening: BabyScreen+ v0.0 WT1 Zornitza Stark gene: WT1 was added
gene: WT1 was added to gNBS. Sources: BabySeq Category B gene,Expert Review Amber,BabySeq Category A gene
Mode of inheritance for gene: WT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: WT1 were set to Denys-Drash syndrome; Wilms tumor, type 1; Frasier syndrome
Genomic newborn screening: BabyScreen+ v0.0 VWF Zornitza Stark gene: VWF was added
gene: VWF was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: VWF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: VWF were set to von Willebrand disease
Genomic newborn screening: BabyScreen+ v0.0 VCL Zornitza Stark gene: VCL was added
gene: VCL was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: VCL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: VCL were set to Cardiomyopathy, dilated
Genomic newborn screening: BabyScreen+ v0.0 TTN Zornitza Stark gene: TTN was added
gene: TTN was added to gNBS. Sources: BabySeq Category B gene,Expert Review Amber,BabySeq Category A gene
Mode of inheritance for gene: TTN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TTN were set to Centronuclear myopathy; Cardiomyopathy, dilated
Genomic newborn screening: BabyScreen+ v0.0 TPM1 Zornitza Stark gene: TPM1 was added
gene: TPM1 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: TPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TPM1 were set to Cardiomyopathy, hypertrophic
Genomic newborn screening: BabyScreen+ v0.0 TNNT2 Zornitza Stark gene: TNNT2 was added
gene: TNNT2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: TNNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TNNT2 were set to Familial hypertrophic cardiomyopathy; Cardiomyopathy, dilated
Genomic newborn screening: BabyScreen+ v0.0 TNNI3 Zornitza Stark gene: TNNI3 was added
gene: TNNI3 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: TNNI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TNNI3 were set to Familial hypertrophic cardiomyopathy; Cardiomyopathy, dilated
Genomic newborn screening: BabyScreen+ v0.0 TNNC1 Zornitza Stark gene: TNNC1 was added
gene: TNNC1 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: TNNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TNNC1 were set to Cardiomyopathy, dilated
Genomic newborn screening: BabyScreen+ v0.0 TINF2 Zornitza Stark gene: TINF2 was added
gene: TINF2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TINF2 were set to Dyskeratosis congenita
Genomic newborn screening: BabyScreen+ v0.0 TERT Zornitza Stark gene: TERT was added
gene: TERT was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: TERT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TERT were set to Dyskeratosis congenita
Genomic newborn screening: BabyScreen+ v0.0 TERC Zornitza Stark gene: TERC was added
gene: TERC was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: TERC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TERC were set to Dyskeratosis congenita
Genomic newborn screening: BabyScreen+ v0.0 SNTA1 Zornitza Stark gene: SNTA1 was added
gene: SNTA1 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: SNTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SNTA1 were set to Long QT syndrome
Genomic newborn screening: BabyScreen+ v0.0 SDHC Zornitza Stark gene: SDHC was added
gene: SDHC was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: SDHC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SDHC were set to Hereditary Paraganglioma-Pheochromocytoma Syndromes
Genomic newborn screening: BabyScreen+ v0.0 SDHB Zornitza Stark gene: SDHB was added
gene: SDHB was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: SDHB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SDHB were set to Hereditary Paraganglioma-Pheochromocytoma Syndromes
Genomic newborn screening: BabyScreen+ v0.0 SDHAF2 Zornitza Stark gene: SDHAF2 was added
gene: SDHAF2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: SDHAF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SDHAF2 were set to Hereditary Paraganglioma-Pheochromocytoma Syndromes
Genomic newborn screening: BabyScreen+ v0.0 SCN5A Zornitza Stark Source Expert Review Amber was added to SCN5A.
Source BabySeq Category B gene was added to SCN5A.
Mode of inheritance for gene SCN5A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Long QT syndrome; Brugada syndrome for gene: SCN5A
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.0 RBM20 Zornitza Stark gene: RBM20 was added
gene: RBM20 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: RBM20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RBM20 were set to Cardiomyopathy, dilated, 1DD
Genomic newborn screening: BabyScreen+ v0.0 PKP2 Zornitza Stark gene: PKP2 was added
gene: PKP2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: PKP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PKP2 were set to Arrhythmogenic right ventricular dysplasia 9
Genomic newborn screening: BabyScreen+ v0.0 PHOX2B Zornitza Stark gene: PHOX2B was added
gene: PHOX2B was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: PHOX2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PHOX2B were set to Central hypoventilation syndrome
Genomic newborn screening: BabyScreen+ v0.0 PCSK9 Zornitza Stark gene: PCSK9 was added
gene: PCSK9 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: PCSK9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PCSK9 were set to Hypercholesterolemia
Genomic newborn screening: BabyScreen+ v0.0 NKX2-5 Zornitza Stark gene: NKX2-5 was added
gene: NKX2-5 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: NKX2-5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NKX2-5 were set to Congenital heart disease
Genomic newborn screening: BabyScreen+ v0.0 MYLK Zornitza Stark gene: MYLK was added
gene: MYLK was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: MYLK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYLK were set to Aortic aneurysm, familial thoracic 7
Genomic newborn screening: BabyScreen+ v0.0 MYL3 Zornitza Stark gene: MYL3 was added
gene: MYL3 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: MYL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYL3 were set to Cardiomyopathy, familial hypertrophic, 8
Genomic newborn screening: BabyScreen+ v0.0 MYL2 Zornitza Stark gene: MYL2 was added
gene: MYL2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: MYL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYL2 were set to Cardiomyopathy, familial hypertrophic, 10
Genomic newborn screening: BabyScreen+ v0.0 MYH11 Zornitza Stark gene: MYH11 was added
gene: MYH11 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: MYH11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYH11 were set to Aortic aneurysm, familial thoracic 4
Genomic newborn screening: BabyScreen+ v0.0 MTHFR Zornitza Stark gene: MTHFR was added
gene: MTHFR was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTHFR were set to Homocystinuria due to MTHFR deficiency
Genomic newborn screening: BabyScreen+ v0.0 MCCC1 Zornitza Stark Source Expert Review Amber was added to MCCC1.
Source BabySeq Category B gene was added to MCCC1.
Added phenotypes 3-Methylcrotonyl-CoA carboxylase 1 deficiency for gene: MCCC1
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.0 LMNA Zornitza Stark gene: LMNA was added
gene: LMNA was added to gNBS. Sources: BabySeq Category B gene,Expert Review Amber,BabySeq Category A gene
Mode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LMNA were set to Charcot-Marie-Tooth disease; Emery-Dreifuss muscular dystrophy 2; Dilated cardiomyopathy
Genomic newborn screening: BabyScreen+ v0.0 KRIT1 Zornitza Stark gene: KRIT1 was added
gene: KRIT1 was added to gNBS. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: KRIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRIT1 were set to PMID: 30061145, 20301470, 27561926
Phenotypes for gene: KRIT1 were set to Cerebral cavernous malformations-1 MIM# 116860
Genomic newborn screening: BabyScreen+ v0.0 KCNQ1 Zornitza Stark Source BabySeq Category B gene was added to KCNQ1.
Source Expert Review Amber was added to KCNQ1.
Source BabySeq Category A gene was added to KCNQ1.
Mode of inheritance for gene KCNQ1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Jervell and Lange-Nielsen syndrome; Long QT syndrome-1 for gene: KCNQ1
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.0 KCNH2 Zornitza Stark gene: KCNH2 was added
gene: KCNH2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: KCNH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNH2 were set to Long QT syndrome-2
Genomic newborn screening: BabyScreen+ v0.0 KCNE2 Zornitza Stark gene: KCNE2 was added
gene: KCNE2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: KCNE2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNE2 were set to Long QT syndrome-6
Genomic newborn screening: BabyScreen+ v0.0 KCNE1 Zornitza Stark gene: KCNE1 was added
gene: KCNE1 was added to gNBS. Sources: BabySeq Category B gene,Expert Review Amber,BabySeq Category A gene
Mode of inheritance for gene: KCNE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNE1 were set to Long QT syndrome-5; Jervell and Lange-Nielsen syndrome
Genomic newborn screening: BabyScreen+ v0.0 KCNA5 Zornitza Stark gene: KCNA5 was added
gene: KCNA5 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: KCNA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNA5 were set to Atrial fibrillation
Genomic newborn screening: BabyScreen+ v0.0 JUP Zornitza Stark gene: JUP was added
gene: JUP was added to gNBS. Sources: BabySeq Category B gene,Expert Review Amber,BabySeq Category A gene
Mode of inheritance for gene: JUP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: JUP were set to Arrhythmogenic right ventricular dysplasia 12; Naxos disease
Genomic newborn screening: BabyScreen+ v0.0 GPD1L Zornitza Stark gene: GPD1L was added
gene: GPD1L was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: GPD1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GPD1L were set to Brugada syndrome
Genomic newborn screening: BabyScreen+ v0.0 GJA5 Zornitza Stark gene: GJA5 was added
gene: GJA5 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: GJA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GJA5 were set to Atrial fibrillation
Genomic newborn screening: BabyScreen+ v0.0 GCH1 Zornitza Stark Source Expert Review Amber was added to GCH1.
Source BabySeq Category B gene was added to GCH1.
Mode of inheritance for gene GCH1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Dystonia, dopa-responsive for gene: GCH1
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.0 GABRG2 Zornitza Stark gene: GABRG2 was added
gene: GABRG2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category C gene
Mode of inheritance for gene: GABRG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRG2 were set to 27864268
Phenotypes for gene: GABRG2 were set to Epileptic encephalopathy, early infantile, 74 MIM# 618396; Epilepsy, generalized, with febrile seizures plus, type 3 MIM# 607681; Febrile seizures, familial, 8 MIM# 607681
Genomic newborn screening: BabyScreen+ v0.0 DSP Zornitza Stark Source BabySeq Category B gene was added to DSP.
Source Expert Review Amber was added to DSP.
Source BabySeq Category A gene was added to DSP.
Mode of inheritance for gene DSP was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Epidermolysis bullosa, lethal acantholytic; Arrhythmogenic right ventricular dysplasia/cardiomyopathy for gene: DSP
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.0 DSG2 Zornitza Stark gene: DSG2 was added
gene: DSG2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: DSG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DSG2 were set to Arrhythmogenic right ventricular cardiomyopathy
Genomic newborn screening: BabyScreen+ v0.0 DSC2 Zornitza Stark gene: DSC2 was added
gene: DSC2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: DSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DSC2 were set to Arrhythmogenic right ventricular cardiomyopathy
Genomic newborn screening: BabyScreen+ v0.0 DMD Zornitza Stark Source BabySeq Category B gene was added to DMD.
Source Expert Review Amber was added to DMD.
Source BabySeq Category A gene was added to DMD.
Added phenotypes Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy, dilated for gene: DMD
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.0 DKC1 Zornitza Stark Source Expert Review Amber was added to DKC1.
Source BabySeq Category B gene was added to DKC1.
Added phenotypes Dyskeratosis congenita for gene: DKC1
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.0 DES Zornitza Stark gene: DES was added
gene: DES was added to gNBS. Sources: BabySeq Category B gene,Expert Review Amber,BabySeq Category A gene
Mode of inheritance for gene: DES was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DES were set to Myopathy, myofibrillar; Cardiomyopathy, dilated
Genomic newborn screening: BabyScreen+ v0.0 CRYAB Zornitza Stark gene: CRYAB was added
gene: CRYAB was added to gNBS. Sources: BabySeq Category B gene,Expert Review Amber,BabySeq Category A gene
Mode of inheritance for gene: CRYAB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CRYAB were set to Myofibrillar myopathy; Cardiomyopathy, dilated
Genomic newborn screening: BabyScreen+ v0.0 CP Zornitza Stark gene: CP was added
gene: CP was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CP were set to Aceruloplasminaemia
Genomic newborn screening: BabyScreen+ v0.0 CDKN2A Zornitza Stark gene: CDKN2A was added
gene: CDKN2A was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: CDKN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CDKN2A were set to Melanoma
Genomic newborn screening: BabyScreen+ v0.0 CACNA1C Zornitza Stark Source Expert Review Amber was added to CACNA1C.
Source BabySeq Category B gene was added to CACNA1C.
Added phenotypes Brugada syndrome for gene: CACNA1C
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.0 BMPR2 Zornitza Stark gene: BMPR2 was added
gene: BMPR2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: BMPR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BMPR2 were set to Pulmonary hypertension, familial primary
Genomic newborn screening: BabyScreen+ v0.0 AIP Zornitza Stark gene: AIP was added
gene: AIP was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: AIP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AIP were set to Pituitary adenoma
Genomic newborn screening: BabyScreen+ v0.0 ACTA2 Zornitza Stark gene: ACTA2 was added
gene: ACTA2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTA2 were set to Aortic aneurysm, familial thoracic
Genomic newborn screening: BabyScreen+ v0.0 ZNF469 Zornitza Stark gene: ZNF469 was added
gene: ZNF469 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ZNF469 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZNF469 were set to Brittle cornea syndrome
Genomic newborn screening: BabyScreen+ v0.0 ZMPSTE24 Zornitza Stark gene: ZMPSTE24 was added
gene: ZMPSTE24 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ZMPSTE24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZMPSTE24 were set to Restrictive dermopathy
Genomic newborn screening: BabyScreen+ v0.0 ZIC3 Zornitza Stark gene: ZIC3 was added
gene: ZIC3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ZIC3 were set to Heterotaxy
Genomic newborn screening: BabyScreen+ v0.0 ZIC2 Zornitza Stark gene: ZIC2 was added
gene: ZIC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ZIC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ZIC2 were set to Holoprosencephaly-5
Genomic newborn screening: BabyScreen+ v0.0 ZEB2 Zornitza Stark gene: ZEB2 was added
gene: ZEB2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ZEB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ZEB2 were set to Mowat-Wilson syndrome
Genomic newborn screening: BabyScreen+ v0.0 ZAP70 Zornitza Stark gene: ZAP70 was added
gene: ZAP70 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ZAP70 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZAP70 were set to ZAP70-related severe combined immunodeficiency
Genomic newborn screening: BabyScreen+ v0.0 XPC Zornitza Stark gene: XPC was added
gene: XPC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: XPC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XPC were set to Xeroderma pigmentosum
Genomic newborn screening: BabyScreen+ v0.0 XPA Zornitza Stark gene: XPA was added
gene: XPA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: XPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XPA were set to Xeroderma pigmentosum
Genomic newborn screening: BabyScreen+ v0.0 XIAP Zornitza Stark gene: XIAP was added
gene: XIAP was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: XIAP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: XIAP were set to Lymphoproliferative syndrome, X-linked, 2, MIM# 300635
Genomic newborn screening: BabyScreen+ v0.0 WRN Zornitza Stark gene: WRN was added
gene: WRN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WRN were set to Werner syndrome
Genomic newborn screening: BabyScreen+ v0.0 WRAP53 Zornitza Stark gene: WRAP53 was added
gene: WRAP53 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: WRAP53 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WRAP53 were set to 32303682; 21205863; 29514627
Phenotypes for gene: WRAP53 were set to Dyskeratosis congenita, autosomal recessive 3, MIM# 613988
Genomic newborn screening: BabyScreen+ v0.0 WHRN Zornitza Stark gene: WHRN was added
gene: WHRN was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: WHRN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WHRN were set to 15841483; 28254438; 17171570; 12833159; 26338283; 20502675; 21738389; 27117407; 29270100; 22147658
Phenotypes for gene: WHRN were set to Usher syndrome, type 2D, MIM# 611383; Deafness, autosomal recessive 31, MIM# 607084
Genomic newborn screening: BabyScreen+ v0.0 WFS1 Zornitza Stark gene: WFS1 was added
gene: WFS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: WFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WFS1 were set to Wolfram syndrome
Genomic newborn screening: BabyScreen+ v0.0 WDR62 Zornitza Stark gene: WDR62 was added
gene: WDR62 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: WDR62 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR62 were set to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
Genomic newborn screening: BabyScreen+ v0.0 WAS Zornitza Stark gene: WAS was added
gene: WAS was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: WAS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: WAS were set to Neutropenia, severe congenital, X-linked , MIM#300299; Thrombocytopaenia, X-linked, MIM# 313900; Wiskott-Aldrich syndrome, MIM# 301000
Genomic newborn screening: BabyScreen+ v0.0 VPS45 Zornitza Stark gene: VPS45 was added
gene: VPS45 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: VPS45 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS45 were set to Neutropenia, severe congenital, 5, autosomal recessive, MIM#615285
Genomic newborn screening: BabyScreen+ v0.0 VPS33B Zornitza Stark gene: VPS33B was added
gene: VPS33B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS33B were set to Arthrogryposis renal dysfunction cholestasis syndrome
Genomic newborn screening: BabyScreen+ v0.0 VPS13B Zornitza Stark gene: VPS13B was added
gene: VPS13B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS13B were set to Cohen syndrome
Genomic newborn screening: BabyScreen+ v0.0 VPS13A Zornitza Stark gene: VPS13A was added
gene: VPS13A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: VPS13A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS13A were set to Choreoacanthocytosis
Genomic newborn screening: BabyScreen+ v0.0 VLDLR Zornitza Stark gene: VLDLR was added
gene: VLDLR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VLDLR were set to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1
Genomic newborn screening: BabyScreen+ v0.0 VIPAS39 Zornitza Stark gene: VIPAS39 was added
gene: VIPAS39 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VIPAS39 were set to Arthrogryposis, renal dysfunction and cholestasis
Genomic newborn screening: BabyScreen+ v0.0 VHL Zornitza Stark gene: VHL was added
gene: VHL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: VHL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: VHL were set to von Hippel-Lindau syndrome
Genomic newborn screening: BabyScreen+ v0.0 VDR Zornitza Stark gene: VDR was added
gene: VDR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: VDR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VDR were set to Vitamin D-dependent rickets
Genomic newborn screening: BabyScreen+ v0.0 VCP Zornitza Stark gene: VCP was added
gene: VCP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: VCP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: VCP were set to Inclusion body myopathy with early-onset paget disease and frontotemporal dementia
Genomic newborn screening: BabyScreen+ v0.0 VCAN Zornitza Stark gene: VCAN was added
gene: VCAN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: VCAN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: VCAN were set to Wagner syndrome
Genomic newborn screening: BabyScreen+ v0.0 VAMP1 Zornitza Stark gene: VAMP1 was added
gene: VAMP1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: VAMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VAMP1 were set to Myasthenic syndrome, congenital, 25, MIM# 618323
Genomic newborn screening: BabyScreen+ v0.0 USH2A Zornitza Stark gene: USH2A was added
gene: USH2A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: USH2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: USH2A were set to Usher syndrome 2
Genomic newborn screening: BabyScreen+ v0.0 USH1G Zornitza Stark gene: USH1G was added
gene: USH1G was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: USH1G was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: USH1G were set to Usher syndrome 1
Genomic newborn screening: BabyScreen+ v0.0 USH1C Zornitza Stark gene: USH1C was added
gene: USH1C was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: USH1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: USH1C were set to Usher syndrome 1
Genomic newborn screening: BabyScreen+ v0.0 UROS Zornitza Stark gene: UROS was added
gene: UROS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UROS were set to Porphyria, congenital erythropoietic
Genomic newborn screening: BabyScreen+ v0.0 UROD Zornitza Stark gene: UROD was added
gene: UROD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: UROD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UROD were set to Porphyria, hepatoerythropoietic
Genomic newborn screening: BabyScreen+ v0.0 UNC13D Zornitza Stark gene: UNC13D was added
gene: UNC13D was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: UNC13D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UNC13D were set to Haemophagocytic lymphohistiocytosis, familial, 3, MIM#608898
Genomic newborn screening: BabyScreen+ v0.0 UMOD Zornitza Stark gene: UMOD was added
gene: UMOD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: UMOD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: UMOD were set to Nephropathy
Genomic newborn screening: BabyScreen+ v0.0 UGT1A1 Zornitza Stark gene: UGT1A1 was added
gene: UGT1A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: UGT1A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UGT1A1 were set to Crigler-Najjar syndrome
Genomic newborn screening: BabyScreen+ v0.0 UCP2 Zornitza Stark gene: UCP2 was added
gene: UCP2 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: UCP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: UCP2 were set to Hyperinsulinism, ORPHA:276556
Genomic newborn screening: BabyScreen+ v0.0 UBR1 Zornitza Stark gene: UBR1 was added
gene: UBR1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: UBR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UBR1 were set to Johanson-Blizzard syndrome
Genomic newborn screening: BabyScreen+ v0.0 UBE2T Zornitza Stark gene: UBE2T was added
gene: UBE2T was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UBE2T were set to Fanconi anaemia, complementation group T, MIM# 616435
Genomic newborn screening: BabyScreen+ v0.0 TYR Zornitza Stark gene: TYR was added
gene: TYR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TYR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYR were set to Albinism, oculocutaneous 1
Genomic newborn screening: BabyScreen+ v0.0 TYMP Zornitza Stark gene: TYMP was added
gene: TYMP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYMP were set to Mitochondrial DNA depletion syndrome
Genomic newborn screening: BabyScreen+ v0.0 TWNK Zornitza Stark gene: TWNK was added
gene: TWNK was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TWNK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TWNK were set to Spinocerebellar ataxia infantile-onset
Genomic newborn screening: BabyScreen+ v0.0 TWIST1 Zornitza Stark gene: TWIST1 was added
gene: TWIST1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TWIST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TWIST1 were set to Saethre-Chotzen syndrome
Genomic newborn screening: BabyScreen+ v0.0 TTR Zornitza Stark gene: TTR was added
gene: TTR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TTR were set to Amyloidosis, hereditary, transthyretin-related
Genomic newborn screening: BabyScreen+ v0.0 TTPA Zornitza Stark gene: TTPA was added
gene: TTPA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTPA were set to Ataxia with isolated vitamin E deficiency
Genomic newborn screening: BabyScreen+ v0.0 TTC7A Zornitza Stark gene: TTC7A was added
gene: TTC7A was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TTC7A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC7A were set to Immunodeficiency, combined, with intestinal atresias, MIM#243150
Genomic newborn screening: BabyScreen+ v0.0 TTC37 Zornitza Stark gene: TTC37 was added
gene: TTC37 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TTC37 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC37 were set to Trichohepatoenteric syndrome
Genomic newborn screening: BabyScreen+ v0.0 TTC21B Zornitza Stark gene: TTC21B was added
gene: TTC21B was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: TTC21B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC21B were set to 25492405; 33875766; 18327258; 21258341
Phenotypes for gene: TTC21B were set to Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819; Nephronophthisis 12, MIM# 613820
Genomic newborn screening: BabyScreen+ v0.0 TSR2 Zornitza Stark gene: TSR2 was added
gene: TSR2 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: TSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TSR2 were set to Diamond-Blackfan anaemia 14 with mandibulofacial dysostosis, MIM# 300946
Genomic newborn screening: BabyScreen+ v0.0 TSHR Zornitza Stark gene: TSHR was added
gene: TSHR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TSHR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSHR were set to Hypothyroidism
Genomic newborn screening: BabyScreen+ v0.0 TSHB Zornitza Stark gene: TSHB was added
gene: TSHB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TSHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSHB were set to Hypothryoidism, congenital, nongoitrous 4
Genomic newborn screening: BabyScreen+ v0.0 TSEN54 Zornitza Stark gene: TSEN54 was added
gene: TSEN54 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN54 were set to Pontocerebellar hypoplasia type 4
Genomic newborn screening: BabyScreen+ v0.0 TSC2 Zornitza Stark gene: TSC2 was added
gene: TSC2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TSC2 were set to Tuberous sclerosis 2, MIM#613254
Genomic newborn screening: BabyScreen+ v0.0 TSC1 Zornitza Stark gene: TSC1 was added
gene: TSC1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TSC1 were set to Tuberous sclerosis 1, MIM#191100
Genomic newborn screening: BabyScreen+ v0.0 TRPM4 Zornitza Stark gene: TRPM4 was added
gene: TRPM4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TRPM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TRPM4 were set to Cardiac conduction disease
Genomic newborn screening: BabyScreen+ v0.0 TRMU Zornitza Stark gene: TRMU was added
gene: TRMU was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TRMU was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRMU were set to Liver failure, transient infantile
Genomic newborn screening: BabyScreen+ v0.0 TRIOBP Zornitza Stark gene: TRIOBP was added
gene: TRIOBP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TRIOBP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIOBP were set to Deafness, autosomal recessive
Genomic newborn screening: BabyScreen+ v0.0 TRIM37 Zornitza Stark gene: TRIM37 was added
gene: TRIM37 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TRIM37 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM37 were set to Mulibrey nanism syndrome
Genomic newborn screening: BabyScreen+ v0.0 TRIM32 Zornitza Stark gene: TRIM32 was added
gene: TRIM32 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM32 were set to Muscular dystrophy, limb-girdle, type 2H
Genomic newborn screening: BabyScreen+ v0.0 TREX1 Zornitza Stark gene: TREX1 was added
gene: TREX1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TREX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TREX1 were set to Aicardi-Goutieres syndrome 1
Genomic newborn screening: BabyScreen+ v0.0 TRAPPC2 Zornitza Stark gene: TRAPPC2 was added
gene: TRAPPC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TRAPPC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TRAPPC2 were set to Spondyloepiphyseal dysplasia tarda
Genomic newborn screening: BabyScreen+ v0.0 TPP1 Zornitza Stark gene: TPP1 was added
gene: TPP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPP1 were set to Neuronal ceroid lipofuscinosis
Genomic newborn screening: BabyScreen+ v0.0 TPO Zornitza Stark gene: TPO was added
gene: TPO was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TPO was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPO were set to Thyroid dyshormonogenesis 2A
Genomic newborn screening: BabyScreen+ v0.0 TPM3 Zornitza Stark gene: TPM3 was added
gene: TPM3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TPM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TPM3 were set to Nemaline myopathy; Congenital fiber-type disproportion myopathy
Genomic newborn screening: BabyScreen+ v0.0 TPM2 Zornitza Stark gene: TPM2 was added
gene: TPM2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TPM2 were set to Nemaline myopathy; Arthrogryposis multiplex congenita, distal
Genomic newborn screening: BabyScreen+ v0.0 TP53 Zornitza Stark gene: TP53 was added
gene: TP53 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TP53 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TP53 were set to Li-Fraumeni syndrome
Genomic newborn screening: BabyScreen+ v0.0 TNNT3 Zornitza Stark gene: TNNT3 was added
gene: TNNT3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TNNT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TNNT3 were set to Arthyrgryposis, distal
Genomic newborn screening: BabyScreen+ v0.0 TNNT1 Zornitza Stark gene: TNNT1 was added
gene: TNNT1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TNNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNNT1 were set to Nemaline myopathy, Amish type
Genomic newborn screening: BabyScreen+ v0.0 TNNI2 Zornitza Stark gene: TNNI2 was added
gene: TNNI2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TNNI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TNNI2 were set to Distal arthrogryposis syndrome 2b
Genomic newborn screening: BabyScreen+ v0.0 TNFSF11 Zornitza Stark gene: TNFSF11 was added
gene: TNFSF11 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TNFSF11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNFSF11 were set to Osteopetrosis, autosomal recessive 2
Genomic newborn screening: BabyScreen+ v0.0 TNFRSF11B Zornitza Stark gene: TNFRSF11B was added
gene: TNFRSF11B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TNFRSF11B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNFRSF11B were set to Paget disease
Genomic newborn screening: BabyScreen+ v0.0 TNFRSF11A Zornitza Stark gene: TNFRSF11A was added
gene: TNFRSF11A was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: TNFRSF11A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNFRSF11A were set to Osteopetrosis, autosomal recessive 7 - MIM# 612301
Genomic newborn screening: BabyScreen+ v0.0 TMPRSS3 Zornitza Stark gene: TMPRSS3 was added
gene: TMPRSS3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TMPRSS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMPRSS3 were set to Deafness, autosomal recessive
Genomic newborn screening: BabyScreen+ v0.0 TMIE Zornitza Stark gene: TMIE was added
gene: TMIE was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TMIE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMIE were set to Deafness, autosomal recessive
Genomic newborn screening: BabyScreen+ v0.0 TMEM67 Zornitza Stark gene: TMEM67 was added
gene: TMEM67 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM67 were set to Joubert syndrome; Meckel syndrome
Genomic newborn screening: BabyScreen+ v0.0 TMEM43 Zornitza Stark gene: TMEM43 was added
gene: TMEM43 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TMEM43 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TMEM43 were set to Arrhythmogenic right ventricular dysplasia 5
Genomic newborn screening: BabyScreen+ v0.0 TMC1 Zornitza Stark gene: TMC1 was added
gene: TMC1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TMC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMC1 were set to Deafness
Genomic newborn screening: BabyScreen+ v0.0 TK2 Zornitza Stark gene: TK2 was added
gene: TK2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TK2 were set to Mitochondrial DNA depletion syndrome
Genomic newborn screening: BabyScreen+ v0.0 TIMM8A Zornitza Stark gene: TIMM8A was added
gene: TIMM8A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TIMM8A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TIMM8A were set to Mohr-Tranebjaerg syndrome
Genomic newborn screening: BabyScreen+ v0.0 THRB Zornitza Stark gene: THRB was added
gene: THRB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: THRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: THRB were set to Thyroid hormone resistance
Genomic newborn screening: BabyScreen+ v0.0 THRA Zornitza Stark gene: THRA was added
gene: THRA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: THRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: THRA were set to Hypothyroidism, congenital, nongoitrous, 6
Genomic newborn screening: BabyScreen+ v0.0 TH Zornitza Stark gene: TH was added
gene: TH was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TH were set to Tyrosine hydroxylase deficiency, MIM#605407
Genomic newborn screening: BabyScreen+ v0.0 TGM5 Zornitza Stark gene: TGM5 was added
gene: TGM5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TGM5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TGM5 were set to Peeling skin syndrome, acral type
Genomic newborn screening: BabyScreen+ v0.0 TGM1 Zornitza Stark gene: TGM1 was added
gene: TGM1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TGM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TGM1 were set to Ichthyosis, congenital, autosomal recessive
Genomic newborn screening: BabyScreen+ v0.0 TGFBR2 Zornitza Stark gene: TGFBR2 was added
gene: TGFBR2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFBR2 were set to Loeys-Dietz syndrome
Genomic newborn screening: BabyScreen+ v0.0 TGFBR1 Zornitza Stark gene: TGFBR1 was added
gene: TGFBR1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFBR1 were set to Loeys-Dietz syndrome
Genomic newborn screening: BabyScreen+ v0.0 TG Zornitza Stark gene: TG was added
gene: TG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TG were set to Thyroid dyshormonogenesis 3
Genomic newborn screening: BabyScreen+ v0.0 TFG Zornitza Stark gene: TFG was added
gene: TFG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TFG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TFG were set to Hereditary motor and sensory neuropathy
Genomic newborn screening: BabyScreen+ v0.0 TFAP2B Zornitza Stark gene: TFAP2B was added
gene: TFAP2B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TFAP2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TFAP2B were set to Char syndrome
Genomic newborn screening: BabyScreen+ v0.0 TFAP2A Zornitza Stark gene: TFAP2A was added
gene: TFAP2A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TFAP2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TFAP2A were set to Branchiooculofacial syndrome
Genomic newborn screening: BabyScreen+ v0.0 TECTA Zornitza Stark gene: TECTA was added
gene: TECTA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TECTA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TECTA were set to Deafness
Genomic newborn screening: BabyScreen+ v0.0 TCOF1 Zornitza Stark gene: TCOF1 was added
gene: TCOF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TCOF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TCOF1 were set to Treacher Collins syndrome 1
Genomic newborn screening: BabyScreen+ v0.0 TCIRG1 Zornitza Stark gene: TCIRG1 was added
gene: TCIRG1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TCIRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCIRG1 were set to Osteopetrosis, infantile malignant
Genomic newborn screening: BabyScreen+ v0.0 TCN2 Zornitza Stark gene: TCN2 was added
gene: TCN2 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCN2 were set to Transcobalamin II deficiency, 275350
Genomic newborn screening: BabyScreen+ v0.0 TCF3 Zornitza Stark gene: TCF3 was added
gene: TCF3 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: TCF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TCF3 were set to Agammaglobulinaemia 8, autosomal dominant, MIM# 616941
Genomic newborn screening: BabyScreen+ v0.0 TBX19 Zornitza Stark gene: TBX19 was added
gene: TBX19 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: TBX19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBX19 were set to Adrenocorticotropic hormone deficiency, MIM#201400
Genomic newborn screening: BabyScreen+ v0.0 TBX5 Zornitza Stark gene: TBX5 was added
gene: TBX5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TBX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TBX5 were set to Holt-Oram syndrome
Genomic newborn screening: BabyScreen+ v0.0 TBX1 Zornitza Stark gene: TBX1 was added
gene: TBX1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TBX1 were set to DiGeorge syndrome
Genomic newborn screening: BabyScreen+ v0.0 TBC1D24 Zornitza Stark gene: TBC1D24 was added
gene: TBC1D24 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TBC1D24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBC1D24 were set to Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome
Genomic newborn screening: BabyScreen+ v0.0 TAZ Zornitza Stark gene: TAZ was added
gene: TAZ was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TAZ were set to Barth syndrome, MIM#302060
Genomic newborn screening: BabyScreen+ v0.0 TAT Zornitza Stark gene: TAT was added
gene: TAT was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TAT were set to Tyrosinemia, type II, MIM#276600
Genomic newborn screening: BabyScreen+ v0.0 SURF1 Zornitza Stark gene: SURF1 was added
gene: SURF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SURF1 were set to Leigh syndrome, due to COX deficiency
Genomic newborn screening: BabyScreen+ v0.0 SUOX Zornitza Stark gene: SUOX was added
gene: SUOX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SUOX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUOX were set to Sulphite oxidase deficiency
Genomic newborn screening: BabyScreen+ v0.0 SUCLG1 Zornitza Stark gene: SUCLG1 was added
gene: SUCLG1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SUCLG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUCLG1 were set to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)
Genomic newborn screening: BabyScreen+ v0.0 SUCLA2 Zornitza Stark gene: SUCLA2 was added
gene: SUCLA2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUCLA2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with methylmalonic aciduria)
Genomic newborn screening: BabyScreen+ v0.0 STXBP2 Zornitza Stark gene: STXBP2 was added
gene: STXBP2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: STXBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STXBP2 were set to Haemophagocytic lymphohistiocytosis, MIM#613101
Genomic newborn screening: BabyScreen+ v0.0 STXBP1 Zornitza Stark gene: STXBP1 was added
gene: STXBP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: STXBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: STXBP1 were set to Epileptic encephalopathy, early infantile
Genomic newborn screening: BabyScreen+ v0.0 STX11 Zornitza Stark gene: STX11 was added
gene: STX11 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: STX11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STX11 were set to Haemophagocytic lymphohistiocytosis, familial, 4, MIM#603552
Genomic newborn screening: BabyScreen+ v0.0 STS Zornitza Stark gene: STS was added
gene: STS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: STS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: STS were set to Ichthyosis, X-linked
Genomic newborn screening: BabyScreen+ v0.0 STRC Zornitza Stark gene: STRC was added
gene: STRC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: STRC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STRC were set to Deafness, autosomal recessive
Genomic newborn screening: BabyScreen+ v0.0 STRA6 Zornitza Stark gene: STRA6 was added
gene: STRA6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: STRA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STRA6 were set to Microphthalmia, syndromic
Genomic newborn screening: BabyScreen+ v0.0 STK11 Zornitza Stark gene: STK11 was added
gene: STK11 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: STK11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: STK11 were set to Peutz-Jeghers syndrome
Genomic newborn screening: BabyScreen+ v0.0 STAT3 Zornitza Stark gene: STAT3 was added
gene: STAT3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: STAT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: STAT3 were set to Hyper-IgE recurrent infection syndrome
Genomic newborn screening: BabyScreen+ v0.0 STAR Zornitza Stark gene: STAR was added
gene: STAR was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: STAR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STAR were set to Congenital lipoid adrenal hyperplasia, MIM#201710
Genomic newborn screening: BabyScreen+ v0.0 STAC3 Zornitza Stark gene: STAC3 was added
gene: STAC3 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: STAC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STAC3 were set to 28411587; 30168660; 23736855; 28777491
Phenotypes for gene: STAC3 were set to Myopathy, congenital, Baily-Bloch, MIM# 255995
Genomic newborn screening: BabyScreen+ v0.0 SRP54 Zornitza Stark gene: SRP54 was added
gene: SRP54 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: SRP54 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SRP54 were set to Neutropenia, severe congenital, 8, autosomal dominant, MIM# 618752
Genomic newborn screening: BabyScreen+ v0.0 SRCAP Zornitza Stark gene: SRCAP was added
gene: SRCAP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SRCAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SRCAP were set to Floating-Harbor syndrome
Genomic newborn screening: BabyScreen+ v0.0 SPTLC1 Zornitza Stark gene: SPTLC1 was added
gene: SPTLC1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SPTLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SPTLC1 were set to Neuropathy, hereditary sensory and autonomic, type IA
Genomic newborn screening: BabyScreen+ v0.0 SPTB Zornitza Stark gene: SPTB was added
gene: SPTB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SPTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SPTB were set to Spherocytosis
Genomic newborn screening: BabyScreen+ v0.0 SPTA1 Zornitza Stark gene: SPTA1 was added
gene: SPTA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SPTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SPTA1 were set to Elliptocytosis
Genomic newborn screening: BabyScreen+ v0.0 SPRED1 Zornitza Stark gene: SPRED1 was added
gene: SPRED1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SPRED1 were set to Legius syndrome
Genomic newborn screening: BabyScreen+ v0.0 SPR Zornitza Stark gene: SPR was added
gene: SPR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SPR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPR were set to Sepiapterin reductase deficiency
Genomic newborn screening: BabyScreen+ v0.0 SPINK5 Zornitza Stark gene: SPINK5 was added
gene: SPINK5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPINK5 were set to Netherton syndrome 1; Netherton syndrome
Genomic newborn screening: BabyScreen+ v0.0 SPEG Zornitza Stark gene: SPEG was added
gene: SPEG was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: SPEG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPEG were set to 26578207; 25087613; 30157964; 29614691; 28624463; 30412272; 31625632; 29474540
Phenotypes for gene: SPEG were set to Centronuclear myopathy 5, MIM# 615959
Genomic newborn screening: BabyScreen+ v0.0 SP110 Zornitza Stark gene: SP110 was added
gene: SP110 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SP110 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SP110 were set to Hepatic venoocclusive disease with immunodeficiency
Genomic newborn screening: BabyScreen+ v0.0 SOX9 Zornitza Stark gene: SOX9 was added
gene: SOX9 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SOX9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SOX9 were set to Campomelic dysplasia
Genomic newborn screening: BabyScreen+ v0.0 SOX10 Zornitza Stark gene: SOX10 was added
gene: SOX10 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SOX10 were set to Shah-Waardenburg syndrome
Genomic newborn screening: BabyScreen+ v0.0 SNAP25 Zornitza Stark gene: SNAP25 was added
gene: SNAP25 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: SNAP25 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SNAP25 were set to Myasthenic syndrome, congenital, 18, MIM# 616330
Genomic newborn screening: BabyScreen+ v0.0 SMPX Zornitza Stark gene: SMPX was added
gene: SMPX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SMPX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SMPX were set to Deafness, X-linked
Genomic newborn screening: BabyScreen+ v0.0 SMPD1 Zornitza Stark gene: SMPD1 was added
gene: SMPD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SMPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMPD1 were set to Niemann-Pick disease, type B; Niemann-Pick disease, type A
Genomic newborn screening: BabyScreen+ v0.0 SMN1 Zornitza Stark gene: SMN1 was added
gene: SMN1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMN1 were set to Spinal muscular atrophy type 1, 253300; Spinal muscular atrophy type 2, 253550; Spinal muscular atrophy type 3, 253400
Genomic newborn screening: BabyScreen+ v0.0 SMC1A Zornitza Stark gene: SMC1A was added
gene: SMC1A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SMC1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMC1A were set to Cornelia de Lange syndrome
Genomic newborn screening: BabyScreen+ v0.0 SMARCAL1 Zornitza Stark gene: SMARCAL1 was added
gene: SMARCAL1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMARCAL1 were set to Schimke immunoosseous dysplasia
Genomic newborn screening: BabyScreen+ v0.0 SMAD4 Zornitza Stark gene: SMAD4 was added
gene: SMAD4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD4 were set to Juvenile polyposis syndrome
Genomic newborn screening: BabyScreen+ v0.0 SMAD3 Zornitza Stark gene: SMAD3 was added
gene: SMAD3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SMAD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD3 were set to Loeys-Dietz syndrome
Genomic newborn screening: BabyScreen+ v0.0 SLX4 Zornitza Stark gene: SLX4 was added
gene: SLX4 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: SLX4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLX4 were set to Fanconi anaemia, complementation group P, MIM# 613951
Genomic newborn screening: BabyScreen+ v0.0 SLCO2A1 Zornitza Stark gene: SLCO2A1 was added
gene: SLCO2A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLCO2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLCO2A1 were set to 22331663; 27134495; 33852188; 23509104
Phenotypes for gene: SLCO2A1 were set to Hypertrophic osteoarthropathy, primary, autosomal recessive 2, MIM# 614441; Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM# 167100
Genomic newborn screening: BabyScreen+ v0.0 SLC9A6 Zornitza Stark gene: SLC9A6 was added
gene: SLC9A6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC9A6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SLC9A6 were set to Christianson syndrome
Genomic newborn screening: BabyScreen+ v0.0 SLC7A9 Zornitza Stark gene: SLC7A9 was added
gene: SLC7A9 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC7A9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC7A9 were set to Cystinuria
Genomic newborn screening: BabyScreen+ v0.0 SLC7A7 Zornitza Stark gene: SLC7A7 was added
gene: SLC7A7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC7A7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC7A7 were set to Lysinuric protein intolerance
Genomic newborn screening: BabyScreen+ v0.0 SLC6A8 Zornitza Stark gene: SLC6A8 was added
gene: SLC6A8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SLC6A8 were set to Creatine deficiency syndrome, X-linked
Genomic newborn screening: BabyScreen+ v0.0 SLC6A5 Zornitza Stark gene: SLC6A5 was added
gene: SLC6A5 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC6A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC6A5 were set to Hyperekplexia 3, MIM#614618
Genomic newborn screening: BabyScreen+ v0.0 SLC6A19 Zornitza Stark gene: SLC6A19 was added
gene: SLC6A19 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: SLC6A19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC6A19 were set to Hartnup disorder, MIM # 234500
Genomic newborn screening: BabyScreen+ v0.0 SLC52A3 Zornitza Stark gene: SLC52A3 was added
gene: SLC52A3 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A3 were set to Brown-Vialetto-Van Laere syndrome 1, MIM# 211530; Fazio-Londe disease, MIM#211500
Genomic newborn screening: BabyScreen+ v0.0 SLC52A2 Zornitza Stark gene: SLC52A2 was added
gene: SLC52A2 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2, MIM# 614707
Genomic newborn screening: BabyScreen+ v0.0 SLC5A5 Zornitza Stark gene: SLC5A5 was added
gene: SLC5A5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC5A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC5A5 were set to Thyroid dyshormonogenesis 1
Genomic newborn screening: BabyScreen+ v0.0 SLC5A2 Zornitza Stark gene: SLC5A2 was added
gene: SLC5A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC5A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC5A2 were set to Renal glucosuria
Genomic newborn screening: BabyScreen+ v0.0 SLC5A1 Zornitza Stark gene: SLC5A1 was added
gene: SLC5A1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: SLC5A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC5A1 were set to Glucose/galactose malabsorption, MIM# 606824
Genomic newborn screening: BabyScreen+ v0.0 SLC4A11 Zornitza Stark gene: SLC4A11 was added
gene: SLC4A11 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC4A11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC4A11 were set to Corneal endothelial dystrophy
Genomic newborn screening: BabyScreen+ v0.0 SLC4A1 Zornitza Stark gene: SLC4A1 was added
gene: SLC4A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC4A1 were set to Spherocytosis
Genomic newborn screening: BabyScreen+ v0.0 SLC46A1 Zornitza Stark gene: SLC46A1 was added
gene: SLC46A1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC46A1 were set to Folate malabsorption, hereditary, MIM#
Genomic newborn screening: BabyScreen+ v0.0 SLC45A2 Zornitza Stark gene: SLC45A2 was added
gene: SLC45A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC45A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC45A2 were set to Oculocutaneous albinism, type IV
Genomic newborn screening: BabyScreen+ v0.0 SLC3A1 Zornitza Stark gene: SLC3A1 was added
gene: SLC3A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC3A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC3A1 were set to Cystinuria
Genomic newborn screening: BabyScreen+ v0.0 SLC39A8 Zornitza Stark gene: SLC39A8 was added
gene: SLC39A8 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A8 were set to Congenital disorder of glycosylation, type IIn , MIM#16721
Genomic newborn screening: BabyScreen+ v0.0 SLC39A4 Zornitza Stark gene: SLC39A4 was added
gene: SLC39A4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A4 were set to Acrodermatitis enteropathica
Genomic newborn screening: BabyScreen+ v0.0 SLC37A4 Zornitza Stark gene: SLC37A4 was added
gene: SLC37A4 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC37A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC37A4 were set to Glycogen storage disease Ib, MIM#232220
Genomic newborn screening: BabyScreen+ v0.0 SLC35D1 Zornitza Stark gene: SLC35D1 was added
gene: SLC35D1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC35D1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC35D1 were set to Schneckenbecken dysplasia
Genomic newborn screening: BabyScreen+ v0.0 SLC34A3 Zornitza Stark gene: SLC34A3 was added
gene: SLC34A3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC34A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC34A3 were set to Hypophosphatemic rickets with hypercalciuria
Genomic newborn screening: BabyScreen+ v0.0 SLC34A2 Zornitza Stark gene: SLC34A2 was added
gene: SLC34A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC34A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC34A2 were set to Pulmonary alveolar microlithiasis
Genomic newborn screening: BabyScreen+ v0.0 SLC2A10 Zornitza Stark gene: SLC2A10 was added
gene: SLC2A10 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC2A10 were set to Arterial tortuosity syndrome
Genomic newborn screening: BabyScreen+ v0.0 SLC2A1 Zornitza Stark gene: SLC2A1 was added
gene: SLC2A1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC2A1 were set to GLUT1 deficiency syndrome 2, childhood onset, 612126; {Epilepsy, idiopathic generalized, susceptibility to, 12}, MIM#614847; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777
Genomic newborn screening: BabyScreen+ v0.0 SLC27A4 Zornitza Stark gene: SLC27A4 was added
gene: SLC27A4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC27A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC27A4 were set to Ichthyosis prematurity syndrome
Genomic newborn screening: BabyScreen+ v0.0 SLC26A4 Zornitza Stark gene: SLC26A4 was added
gene: SLC26A4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC26A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC26A4 were set to Pendred syndrome
Genomic newborn screening: BabyScreen+ v0.0 SLC26A3 Zornitza Stark gene: SLC26A3 was added
gene: SLC26A3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC26A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC26A3 were set to Chloride diarrhea, congenital, Finnish type
Genomic newborn screening: BabyScreen+ v0.0 SLC26A2 Zornitza Stark gene: SLC26A2 was added
gene: SLC26A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC26A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC26A2 were set to Achondrogenesis 1B
Genomic newborn screening: BabyScreen+ v0.0 SLC25A4 Zornitza Stark gene: SLC25A4 was added
gene: SLC25A4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC25A4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC25A4 were set to Progressive external ophthalmoplegia
Genomic newborn screening: BabyScreen+ v0.0 SLC25A38 Zornitza Stark gene: SLC25A38 was added
gene: SLC25A38 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A38 were set to Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive
Genomic newborn screening: BabyScreen+ v0.0 SLC25A20 Zornitza Stark gene: SLC25A20 was added
gene: SLC25A20 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A20 were set to Carnitine-acylcarnitine translocase deficiency, MIM#212138
Genomic newborn screening: BabyScreen+ v0.0 SLC25A15 Zornitza Stark gene: SLC25A15 was added
gene: SLC25A15 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A15 were set to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, MIM#238970
Genomic newborn screening: BabyScreen+ v0.0 SLC25A13 Zornitza Stark gene: SLC25A13 was added
gene: SLC25A13 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC25A13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A13 were set to Citrullinemia, MIM#605814
Genomic newborn screening: BabyScreen+ v0.0 SLC25A1 Zornitza Stark gene: SLC25A1 was added
gene: SLC25A1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A1 were set to Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072; Myasthenic syndrome, congenital, 23, presynaptic, MIM#618197, MONDO:0032596
Genomic newborn screening: BabyScreen+ v0.0 SLC22A5 Zornitza Stark gene: SLC22A5 was added
gene: SLC22A5 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC22A5 were set to Carnitine deficiency, systemic primary, MIM#212140
Genomic newborn screening: BabyScreen+ v0.0 SLC19A3 Zornitza Stark gene: SLC19A3 was added
gene: SLC19A3 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC19A3 were set to Basal ganglia disease, biotin-responsive, MIM#607483
Genomic newborn screening: BabyScreen+ v0.0 SLC19A2 Zornitza Stark gene: SLC19A2 was added
gene: SLC19A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC19A2 were set to Thiamine-responsive megaloblastic anemia syndrome
Genomic newborn screening: BabyScreen+ v0.0 SLC18A3 Zornitza Stark gene: SLC18A3 was added
gene: SLC18A3 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: SLC18A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC18A3 were set to Myasthenic syndrome, congenital, 21, presynaptic, MIM# 617239
Genomic newborn screening: BabyScreen+ v0.0 SLC18A2 Zornitza Stark gene: SLC18A2 was added
gene: SLC18A2 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: SLC18A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC18A2 were set to Parkinsonism-dystonia, infantile, 2, MIM# 618049
Genomic newborn screening: BabyScreen+ v0.0 SLC17A5 Zornitza Stark gene: SLC17A5 was added
gene: SLC17A5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC17A5 were set to Sialic acid storage disorder, infantile
Genomic newborn screening: BabyScreen+ v0.0 SLC16A2 Zornitza Stark gene: SLC16A2 was added
gene: SLC16A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SLC16A2 were set to Allan-Herndon-Dudley syndrome
Genomic newborn screening: BabyScreen+ v0.0 SLC16A1 Zornitza Stark gene: SLC16A1 was added
gene: SLC16A1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: SLC16A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC16A1 were set to Hyperinsulinemic hypoglycemia, familial, 7, MIM# 610021
Genomic newborn screening: BabyScreen+ v0.0 SLC12A6 Zornitza Stark gene: SLC12A6 was added
gene: SLC12A6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC12A6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC12A6 were set to Agenesis of the corpus callosum with peripheral neuropathy
Genomic newborn screening: BabyScreen+ v0.0 SLC12A3 Zornitza Stark gene: SLC12A3 was added
gene: SLC12A3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC12A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC12A3 were set to Gitelman syndrome
Genomic newborn screening: BabyScreen+ v0.0 SLC12A1 Zornitza Stark gene: SLC12A1 was added
gene: SLC12A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC12A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC12A1 were set to Bartter syndrome
Genomic newborn screening: BabyScreen+ v0.0 SKI Zornitza Stark gene: SKI was added
gene: SKI was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SKI was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SKI were set to Shprintzen-Goldberg syndrome
Genomic newborn screening: BabyScreen+ v0.0 SIX3 Zornitza Stark gene: SIX3 was added
gene: SIX3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SIX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SIX3 were set to Holoprosencephaly-2
Genomic newborn screening: BabyScreen+ v0.0 SIX1 Zornitza Stark gene: SIX1 was added
gene: SIX1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SIX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SIX1 were set to Branchiootorenal syndrome
Genomic newborn screening: BabyScreen+ v0.0 SIL1 Zornitza Stark gene: SIL1 was added
gene: SIL1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SIL1 were set to Marinesco-Sjogren syndrome
Genomic newborn screening: BabyScreen+ v0.0 SI Zornitza Stark gene: SI was added
gene: SI was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: SI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SI were set to Sucrase-isomaltase deficiency, congenital, MIM# 222900
Genomic newborn screening: BabyScreen+ v0.0 SHH Zornitza Stark gene: SHH was added
gene: SHH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SHH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SHH were set to Holoprosencephaly-3
Genomic newborn screening: BabyScreen+ v0.0 SHANK3 Zornitza Stark gene: SHANK3 was added
gene: SHANK3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SHANK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SHANK3 were set to 17173049; 30842224; 16284256; 20186804; 22892527
Phenotypes for gene: SHANK3 were set to Phelan-McDermid syndrome, MIM# 606232; MONDO:0011652
Genomic newborn screening: BabyScreen+ v0.0 SH3TC2 Zornitza Stark gene: SH3TC2 was added
gene: SH3TC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SH3TC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SH3TC2 were set to Charcot-Marie-Tooth disease
Genomic newborn screening: BabyScreen+ v0.0 SH2D1A Zornitza Stark gene: SH2D1A was added
gene: SH2D1A was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SH2D1A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SH2D1A were set to Lymphoproliferative syndrome, MIM#308240
Genomic newborn screening: BabyScreen+ v0.0 SGSH Zornitza Stark gene: SGSH was added
gene: SGSH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGSH were set to Mucopolysaccharidisis type IIIA (Sanfilippo A)
Genomic newborn screening: BabyScreen+ v0.0 SGCG Zornitza Stark gene: SGCG was added
gene: SGCG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SGCG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCG were set to Muscular dystrophy, limb-girdle, type 2C
Genomic newborn screening: BabyScreen+ v0.0 SGCD Zornitza Stark gene: SGCD was added
gene: SGCD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: SGCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCD were set to Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287
Genomic newborn screening: BabyScreen+ v0.0 SGCB Zornitza Stark gene: SGCB was added
gene: SGCB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SGCB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCB were set to Muscular dystrophy, limb-girdle, type 2E
Genomic newborn screening: BabyScreen+ v0.0 SGCA Zornitza Stark gene: SGCA was added
gene: SGCA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SGCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCA were set to Muscular dystrophy, limb-girdle, type 2D
Genomic newborn screening: BabyScreen+ v0.0 SFTPC Zornitza Stark gene: SFTPC was added
gene: SFTPC was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: SFTPC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SFTPC were set to Interstitial lung disease; Surfactant metabolism dysfunction, pulmonary, 2 MIM# 178620
Genomic newborn screening: BabyScreen+ v0.0 SFTPB Zornitza Stark gene: SFTPB was added
gene: SFTPB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SFTPB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SFTPB were set to Surfactant metabolism dysfunction, pulmonary
Genomic newborn screening: BabyScreen+ v0.0 SETX Zornitza Stark gene: SETX was added
gene: SETX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SETX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SETX were set to Ataxia-ocular apraxia 2
Genomic newborn screening: BabyScreen+ v0.0 SETBP1 Zornitza Stark gene: SETBP1 was added
gene: SETBP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SETBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SETBP1 were set to Schinzel-Giedion syndrome
Genomic newborn screening: BabyScreen+ v0.0 SERPINA1 Zornitza Stark gene: SERPINA1 was added
gene: SERPINA1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: SERPINA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERPINA1 were set to Emphysema due to AAT deficiency, OMIM #107400; Antitrypsin alpha 1 deficiency
Genomic newborn screening: BabyScreen+ v0.0 SELENON Zornitza Stark gene: SELENON was added
gene: SELENON was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SELENON was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SELENON were set to Muscular dystrophy, rigid spine; Myopathy, congenital, with fiber-type disproportion
Genomic newborn screening: BabyScreen+ v0.0 SDHD Zornitza Stark gene: SDHD was added
gene: SDHD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SDHD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SDHD were set to Hereditary Paraganglioma-Pheochromocytoma Syndromes
Genomic newborn screening: BabyScreen+ v0.0 SCO2 Zornitza Stark gene: SCO2 was added
gene: SCO2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCO2 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency
Genomic newborn screening: BabyScreen+ v0.0 SCNN1G Zornitza Stark gene: SCNN1G was added
gene: SCNN1G was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: SCNN1G was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCNN1G were set to Pseudohypoaldosteronism, type I, MIM# 264350
Genomic newborn screening: BabyScreen+ v0.0 SCNN1B Zornitza Stark gene: SCNN1B was added
gene: SCNN1B was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: SCNN1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCNN1B were set to Pseudohypoaldosteronism, type I MIM# 264350
Genomic newborn screening: BabyScreen+ v0.0 SCNN1A Zornitza Stark gene: SCNN1A was added
gene: SCNN1A was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SCNN1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCNN1A were set to Pseudohypoaldosteronism, MIM#264350
Genomic newborn screening: BabyScreen+ v0.0 SCN8A Zornitza Stark gene: SCN8A was added
gene: SCN8A was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN8A were set to Developmental and epileptic encephalopathy 13, MIM#614558
Genomic newborn screening: BabyScreen+ v0.0 SCN5A Zornitza Stark gene: SCN5A was added
gene: SCN5A was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: SCN5A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SCN5A were set to Sick sinus syndrome 1, MIM# 608567; Ventricular fibrillation, familial, 1, MIM# 603829; Brugada syndrome 1, MIM# 601144; Long QT syndrome 3 (MIM#603830); Heart block, progressive, type IA, MIM# 113900
Genomic newborn screening: BabyScreen+ v0.0 SCN4A Zornitza Stark gene: SCN4A was added
gene: SCN4A was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: SCN4A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SCN4A were set to Hyperkalemic periodic paralysis, type 2, MIM# 170500; Paramyotonia congenita , MIM#168300; Myotonia congenita, atypical, acetazolamide-responsive , MIM#608390; Myasthenic syndrome, congenital, 16, MIM# 614198; Hypokalemic periodic paralysis, type 2, MIM# 613345
Genomic newborn screening: BabyScreen+ v0.0 SCN3A Zornitza Stark gene: SCN3A was added
gene: SCN3A was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: SCN3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN3A were set to Developmental and epileptic encephalopathy 62, MIM# 617938
Genomic newborn screening: BabyScreen+ v0.0 SCN2A Zornitza Stark gene: SCN2A was added
gene: SCN2A was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: SCN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN2A were set to Developmental and epileptic encephalopathy 11, MIM# 613721
Genomic newborn screening: BabyScreen+ v0.0 SCN1A Zornitza Stark gene: SCN1A was added
gene: SCN1A was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SCN1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN1A were set to Dravet syndrome, MIM#604403; Developmental and epileptic encephalopathy 6B, non-Dravet , MIM#619317
Genomic newborn screening: BabyScreen+ v0.0 SCN11A Zornitza Stark gene: SCN11A was added
gene: SCN11A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SCN11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN11A were set to Episodic pain syndrome
Genomic newborn screening: BabyScreen+ v0.0 SBDS Zornitza Stark gene: SBDS was added
gene: SBDS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SBDS were set to Shwachman-Bodian-Diamond syndrome
Genomic newborn screening: BabyScreen+ v0.0 SAMHD1 Zornitza Stark gene: SAMHD1 was added
gene: SAMHD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAMHD1 were set to Aicardi-Goutieres syndrome
Genomic newborn screening: BabyScreen+ v0.0 SALL1 Zornitza Stark gene: SALL1 was added
gene: SALL1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SALL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SALL1 were set to Townes-Brocks syndrome
Genomic newborn screening: BabyScreen+ v0.0 SACS Zornitza Stark gene: SACS was added
gene: SACS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SACS were set to Spastic ataxia Charlevoix-Saguenay type
Genomic newborn screening: BabyScreen+ v0.0 RYR2 Zornitza Stark gene: RYR2 was added
gene: RYR2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RYR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RYR2 were set to Arrhythmogenic right ventricular dysplasia 2; Ventricular tachycardia, catecholaminergic polymorphic
Genomic newborn screening: BabyScreen+ v0.0 RYR1 Zornitza Stark gene: RYR1 was added
gene: RYR1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,BabySeq Category B gene,BabySeq Category C gene,Expert Review Green
Mode of inheritance for gene: RYR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RYR1 were set to Malignant hyperthermia, multiminicore disease MIM#180901
Genomic newborn screening: BabyScreen+ v0.0 RUNX2 Zornitza Stark gene: RUNX2 was added
gene: RUNX2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RUNX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RUNX2 were set to Cleidocranial dysostosis
Genomic newborn screening: BabyScreen+ v0.0 RSPH9 Zornitza Stark gene: RSPH9 was added
gene: RSPH9 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RSPH9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RSPH9 were set to Ciliary dyskinesia, primary
Genomic newborn screening: BabyScreen+ v0.0 RSPH4A Zornitza Stark gene: RSPH4A was added
gene: RSPH4A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RSPH4A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RSPH4A were set to Ciliary dyskinesia, primary
Genomic newborn screening: BabyScreen+ v0.0 RS1 Zornitza Stark gene: RS1 was added
gene: RS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RS1 were set to Retinoschisis, X linked
Genomic newborn screening: BabyScreen+ v0.0 RRM2B Zornitza Stark gene: RRM2B was added
gene: RRM2B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RRM2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RRM2B were set to Mitochondrial DNA depletion syndrome
Genomic newborn screening: BabyScreen+ v0.0 RPS6KA3 Zornitza Stark gene: RPS6KA3 was added
gene: RPS6KA3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RPS6KA3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RPS6KA3 were set to Coffin-Lowry syndrome
Genomic newborn screening: BabyScreen+ v0.0 RPS7 Zornitza Stark gene: RPS7 was added
gene: RPS7 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: RPS7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPS7 were set to Diamond-Blackfan anaemia 8, MIM# 612563
Genomic newborn screening: BabyScreen+ v0.0 RPS29 Zornitza Stark gene: RPS29 was added
gene: RPS29 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: RPS29 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPS29 were set to Diamond-Blackfan anaemia 13, MIM# 615909
Genomic newborn screening: BabyScreen+ v0.0 RPS28 Zornitza Stark gene: RPS28 was added
gene: RPS28 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: RPS28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPS28 were set to Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164
Genomic newborn screening: BabyScreen+ v0.0 RPS27 Zornitza Stark gene: RPS27 was added
gene: RPS27 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: RPS27 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPS27 were set to Diamond-Blackfan anaemia 17, MIM# 617409
Genomic newborn screening: BabyScreen+ v0.0 RPS26 Zornitza Stark gene: RPS26 was added
gene: RPS26 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RPS26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPS26 were set to Diamond-Blackfan anaemia, MM#613309
Genomic newborn screening: BabyScreen+ v0.0 RPS24 Zornitza Stark gene: RPS24 was added
gene: RPS24 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RPS24 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPS24 were set to Diamond-Blackfan anaemia, MIM#610629
Genomic newborn screening: BabyScreen+ v0.0 RPS19 Zornitza Stark gene: RPS19 was added
gene: RPS19 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RPS19 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPS19 were set to Diamond-Blackfan anaemia, MIM#105650
Genomic newborn screening: BabyScreen+ v0.0 RPS17 Zornitza Stark gene: RPS17 was added
gene: RPS17 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RPS17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPS17 were set to Diamond-Blackfan anaemia, MIM#612527
Genomic newborn screening: BabyScreen+ v0.0 RPS15A Zornitza Stark gene: RPS15A was added
gene: RPS15A was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: RPS15A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPS15A were set to Diamond-Blackfan anaemia 20, MIM# 618313
Genomic newborn screening: BabyScreen+ v0.0 RPS15 Zornitza Stark gene: RPS15 was added
gene: RPS15 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RPS15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPS15 were set to Diamond-Blackfan anemia
Genomic newborn screening: BabyScreen+ v0.0 RPS10 Zornitza Stark gene: RPS10 was added
gene: RPS10 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: RPS10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPS10 were set to Diamond-Blackfan anaemia 9, MIM# 613308
Genomic newborn screening: BabyScreen+ v0.0 RPL5 Zornitza Stark gene: RPL5 was added
gene: RPL5 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RPL5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPL5 were set to Diamond-Blackfan anaemia, MIM#612561
Genomic newborn screening: BabyScreen+ v0.0 RPL35A Zornitza Stark gene: RPL35A was added
gene: RPL35A was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: RPL35A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPL35A were set to Diamond-Blackfan anaemia 5, MIM# 612528
Genomic newborn screening: BabyScreen+ v0.0 RPL35 Zornitza Stark gene: RPL35 was added
gene: RPL35 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: RPL35 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPL35 were set to Diamond-Blackfan anaemia 19 , MIM# 618312
Genomic newborn screening: BabyScreen+ v0.0 RPL27 Zornitza Stark gene: RPL27 was added
gene: RPL27 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: RPL27 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPL27 were set to Diamond-Blackfan anaemia 16 , MIM# 617408
Genomic newborn screening: BabyScreen+ v0.0 RPL26 Zornitza Stark gene: RPL26 was added
gene: RPL26 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: RPL26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPL26 were set to Diamond-Blackfan anaemia 11 , MIM# 614900
Genomic newborn screening: BabyScreen+ v0.0 RPL18 Zornitza Stark gene: RPL18 was added
gene: RPL18 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: RPL18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPL18 were set to Diamond-Blackfan anaemia 18 , MIM# 618310
Genomic newborn screening: BabyScreen+ v0.0 RPL15 Zornitza Stark gene: RPL15 was added
gene: RPL15 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: RPL15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPL15 were set to Diamond-Blackfan anaemia 12 , MIM# 615550
Genomic newborn screening: BabyScreen+ v0.0 RPL11 Zornitza Stark gene: RPL11 was added
gene: RPL11 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RPL11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPL11 were set to Diamond-Blackfan anaemia, MIM#612562
Genomic newborn screening: BabyScreen+ v0.0 RPGRIP1L Zornitza Stark gene: RPGRIP1L was added
gene: RPGRIP1L was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPGRIP1L were set to Joubert syndrome; Meckel syndrome
Genomic newborn screening: BabyScreen+ v0.0 RPGR Zornitza Stark gene: RPGR was added
gene: RPGR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RPGR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RPGR were set to Retinitis pigmentosa
Genomic newborn screening: BabyScreen+ v0.0 ROR2 Zornitza Stark gene: ROR2 was added
gene: ROR2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ROR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ROR2 were set to Robinow syndrome; Brachydactyly, type B1
Genomic newborn screening: BabyScreen+ v0.0 RNASEH2C Zornitza Stark gene: RNASEH2C was added
gene: RNASEH2C was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2C were set to Aicardi-Goutieres syndrome
Genomic newborn screening: BabyScreen+ v0.0 RNASEH2B Zornitza Stark gene: RNASEH2B was added
gene: RNASEH2B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2B were set to Aicardi-Goutieres syndrome
Genomic newborn screening: BabyScreen+ v0.0 RNASEH2A Zornitza Stark gene: RNASEH2A was added
gene: RNASEH2A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2A were set to Aicardi-Goutieres syndrome
Genomic newborn screening: BabyScreen+ v0.0 RMRP Zornitza Stark gene: RMRP was added
gene: RMRP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RMRP were set to Cartilage-hair hypoplasia
Genomic newborn screening: BabyScreen+ v0.0 RFXANK Zornitza Stark gene: RFXANK was added
gene: RFXANK was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: RFXANK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RFXANK were set to MHC class II deficiency, complementation group B , MIM#209920
Genomic newborn screening: BabyScreen+ v0.0 RFWD3 Zornitza Stark gene: RFWD3 was added
gene: RFWD3 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: RFWD3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RFWD3 were set to Fanconi anaemia, complementation group W, MIM# 617784
Genomic newborn screening: BabyScreen+ v0.0 RETREG1 Zornitza Stark gene: RETREG1 was added
gene: RETREG1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RETREG1 were set to 31737055; 31596031; 24327336; 19838196
Phenotypes for gene: RETREG1 were set to MONDO:0013142; Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115
Genomic newborn screening: BabyScreen+ v0.0 RET Zornitza Stark gene: RET was added
gene: RET was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RET were set to Multiple endocrine neoplasia IIB; Multiple endocrine neoplasia IIA
Genomic newborn screening: BabyScreen+ v0.0 REN Zornitza Stark gene: REN was added
gene: REN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: REN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: REN were set to Renal tubular dysgenesis
Genomic newborn screening: BabyScreen+ v0.0 RECQL4 Zornitza Stark gene: RECQL4 was added
gene: RECQL4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RECQL4 were set to Rothmund-Thomson syndrome; Rapadilino syndrome; Baller-Gerold syndrome
Genomic newborn screening: BabyScreen+ v0.0 RDX Zornitza Stark gene: RDX was added
gene: RDX was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: RDX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RDX were set to 19215054; 22567349; 15314067; 26226137; 17226784
Phenotypes for gene: RDX were set to Deafness, autosomal recessive 24, MIM# 611022
Genomic newborn screening: BabyScreen+ v0.0 RBM8A Zornitza Stark gene: RBM8A was added
gene: RBM8A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RBM8A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RBM8A were set to Thrombocytopaenia-absent radius syndrome
Genomic newborn screening: BabyScreen+ v0.0 RB1 Zornitza Stark gene: RB1 was added
gene: RB1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RB1 were set to Retinoblastoma
Genomic newborn screening: BabyScreen+ v0.0 RASA1 Zornitza Stark gene: RASA1 was added
gene: RASA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RASA1 were set to Capillary malformation-arteriovenous malformation
Genomic newborn screening: BabyScreen+ v0.0 RAPSN Zornitza Stark gene: RAPSN was added
gene: RAPSN was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RAPSN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAPSN were set to Congenital myasthenic syndrome, MIM#616326
Genomic newborn screening: BabyScreen+ v0.0 RAI1 Zornitza Stark gene: RAI1 was added
gene: RAI1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RAI1 were set to Smith-Magenis syndrome; Potocki-Lupski syndrome
Genomic newborn screening: BabyScreen+ v0.0 RAG2 Zornitza Stark gene: RAG2 was added
gene: RAG2 was added to gNBS. Sources: BEginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RAG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAG2 were set to Omenn syndrome, MIM#603554
Genomic newborn screening: BabyScreen+ v0.0 RAG1 Zornitza Stark gene: RAG1 was added
gene: RAG1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RAG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAG1 were set to Omenn syndrome, MIM#603554
Genomic newborn screening: BabyScreen+ v0.0 RAF1 Zornitza Stark gene: RAF1 was added
gene: RAF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RAF1 were set to Noonan syndrome
Genomic newborn screening: BabyScreen+ v0.0 RAB7A Zornitza Stark gene: RAB7A was added
gene: RAB7A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RAB7A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RAB7A were set to Charcot-Marie-Tooth disease
Genomic newborn screening: BabyScreen+ v0.0 RAB3GAP2 Zornitza Stark gene: RAB3GAP2 was added
gene: RAB3GAP2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: RAB3GAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAB3GAP2 were set to 20967465; 23420520
Phenotypes for gene: RAB3GAP2 were set to Warburg micro syndrome 2, MIM# 614225
Genomic newborn screening: BabyScreen+ v0.0 RAB3GAP1 Zornitza Stark gene: RAB3GAP1 was added
gene: RAB3GAP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RAB3GAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB3GAP1 were set to Warburg micro syndrome
Genomic newborn screening: BabyScreen+ v0.0 RAB27A Zornitza Stark gene: RAB27A was added
gene: RAB27A was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RAB27A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB27A were set to Griscelli syndrome, MIM#607624
Genomic newborn screening: BabyScreen+ v0.0 RAB23 Zornitza Stark gene: RAB23 was added
gene: RAB23 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RAB23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB23 were set to Carpenter syndrome
Genomic newborn screening: BabyScreen+ v0.0 QDPR Zornitza Stark gene: QDPR was added
gene: QDPR was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: QDPR were set to Dihydropteridine reductase deficiency, MIM#261630
Genomic newborn screening: BabyScreen+ v0.0 PYGM Zornitza Stark gene: PYGM was added
gene: PYGM was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYGM were set to McCardle disease MIM# 608455
Genomic newborn screening: BabyScreen+ v0.0 PYGL Zornitza Stark gene: PYGL was added
gene: PYGL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PYGL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYGL were set to Glycogen storage disease VI
Genomic newborn screening: BabyScreen+ v0.0 PTS Zornitza Stark gene: PTS was added
gene: PTS was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PTS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTS were set to Hyperphenylalaninemia, BH4-deficient, A, MIM#261640
Genomic newborn screening: BabyScreen+ v0.0 PTPRC Zornitza Stark gene: PTPRC was added
gene: PTPRC was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: PTPRC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTPRC were set to Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 608971
Genomic newborn screening: BabyScreen+ v0.0 PTPN11 Zornitza Stark gene: PTPN11 was added
gene: PTPN11 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTPN11 were set to Noonan syndrome
Genomic newborn screening: BabyScreen+ v0.0 PTH1R Zornitza Stark gene: PTH1R was added
gene: PTH1R was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PTH1R was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTH1R were set to Metaphyseal chondrodysplasia
Genomic newborn screening: BabyScreen+ v0.0 PTF1A Zornitza Stark gene: PTF1A was added
gene: PTF1A was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: PTF1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTF1A were set to Pancreatic and cerebellar agenesis, MIM# 609069; Pancreatic agenesis 2, MIM# 615935
Genomic newborn screening: BabyScreen+ v0.0 PTEN Zornitza Stark gene: PTEN was added
gene: PTEN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTEN were set to Cowden disease; Bannayan-Riley-Ruvalcaba syndrome
Genomic newborn screening: BabyScreen+ v0.0 PTCH1 Zornitza Stark gene: PTCH1 was added
gene: PTCH1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTCH1 were set to Nevoid basal cell carcinoma syndrome
Genomic newborn screening: BabyScreen+ v0.0 PSPH Zornitza Stark gene: PSPH was added
gene: PSPH was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: PSPH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSPH were set to Phosphoserine phosphatase deficiency, MIM# 614023
Genomic newborn screening: BabyScreen+ v0.0 PSAT1 Zornitza Stark gene: PSAT1 was added
gene: PSAT1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSAT1 were set to Phosphoserine aminotransferase deficiency , MIM# 610992
Genomic newborn screening: BabyScreen+ v0.0 PSAP Zornitza Stark gene: PSAP was added
gene: PSAP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PSAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSAP were set to Metachromatic leukodystrophy
Genomic newborn screening: BabyScreen+ v0.0 PRX Zornitza Stark gene: PRX was added
gene: PRX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PRX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRX were set to Charcot-Marie-Tooth disease
Genomic newborn screening: BabyScreen+ v0.0 PROS1 Zornitza Stark gene: PROS1 was added
gene: PROS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PROS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PROS1 were set to Protein S deficiency
Genomic newborn screening: BabyScreen+ v0.0 PROP1 Zornitza Stark gene: PROP1 was added
gene: PROP1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PROP1 were set to Pituitary hormone deficiency, combined, 2, MIM#262600
Genomic newborn screening: BabyScreen+ v0.0 PROKR2 Zornitza Stark gene: PROKR2 was added
gene: PROKR2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PROKR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PROKR2 were set to Hypogonadotropic hypogonadism
Genomic newborn screening: BabyScreen+ v0.0 PROC Zornitza Stark gene: PROC was added
gene: PROC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PROC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PROC were set to Thrombophilia due to protein C deficiency
Genomic newborn screening: BabyScreen+ v0.0 PRKAR1A Zornitza Stark gene: PRKAR1A was added
gene: PRKAR1A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRKAR1A were set to Carney complex
Genomic newborn screening: BabyScreen+ v0.0 PRKDC Zornitza Stark gene: PRKDC was added
gene: PRKDC was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: PRKDC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRKDC were set to Immunodeficiency 26, with or without neurologic abnormalities, MIM# 615966
Genomic newborn screening: BabyScreen+ v0.0 PRF1 Zornitza Stark gene: PRF1 was added
gene: PRF1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRF1 were set to Haemophagocytic lymphohistiocytosis, familial, 2, MIM#603553
Genomic newborn screening: BabyScreen+ v0.0 PREPL Zornitza Stark gene: PREPL was added
gene: PREPL was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PREPL were set to Myasthenic syndrome, congenital, 22, MIM# 616224
Genomic newborn screening: BabyScreen+ v0.0 PQBP1 Zornitza Stark gene: PQBP1 was added
gene: PQBP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PQBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PQBP1 were set to Mental retardation
Genomic newborn screening: BabyScreen+ v0.0 PPT1 Zornitza Stark gene: PPT1 was added
gene: PPT1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PPT1 were set to Neuronal ceroid lipofuscinosis
Genomic newborn screening: BabyScreen+ v0.0 POU4F3 Zornitza Stark gene: POU4F3 was added
gene: POU4F3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: POU4F3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: POU4F3 were set to Deafness, autosomal dominant
Genomic newborn screening: BabyScreen+ v0.0 POU3F4 Zornitza Stark gene: POU3F4 was added
gene: POU3F4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: POU3F4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: POU3F4 were set to Deafness, X-linked
Genomic newborn screening: BabyScreen+ v0.0 POU1F1 Zornitza Stark gene: POU1F1 was added
gene: POU1F1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: POU1F1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POU1F1 were set to Pituitary hormone deficiency, MIM#613038
Genomic newborn screening: BabyScreen+ v0.0 PORCN Zornitza Stark gene: PORCN was added
gene: PORCN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PORCN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PORCN were set to Focal dermal hypoplasia
Genomic newborn screening: BabyScreen+ v0.0 POR Zornitza Stark gene: POR was added
gene: POR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POR were set to Disordered steroidogenesis with and without Antley-Bixler syndrome, MIM#201750
Genomic newborn screening: BabyScreen+ v0.0 POMT2 Zornitza Stark gene: POMT2 was added
gene: POMT2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMT2 were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2
Genomic newborn screening: BabyScreen+ v0.0 POMT1 Zornitza Stark gene: POMT1 was added
gene: POMT1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMT1 were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1; Walker-Warburg syndrome
Genomic newborn screening: BabyScreen+ v0.0 POMGNT1 Zornitza Stark gene: POMGNT1 was added
gene: POMGNT1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMGNT1 were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Genomic newborn screening: BabyScreen+ v0.0 POLH Zornitza Stark gene: POLH was added
gene: POLH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: POLH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLH were set to Xeroderma pigmentosum
Genomic newborn screening: BabyScreen+ v0.0 POLG Zornitza Stark gene: POLG was added
gene: POLG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to POLG-Related Ataxia Neuropathy Spectrum Disorders
Genomic newborn screening: BabyScreen+ v0.0 PNPO Zornitza Stark gene: PNPO was added
gene: PNPO was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PNPO was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPO were set to Epileptic encephalopathy, neonatal, MIM#610090
Genomic newborn screening: BabyScreen+ v0.0 PNKP Zornitza Stark gene: PNKP was added
gene: PNKP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNKP were set to Microcephaly - seizures - developmental delay
Genomic newborn screening: BabyScreen+ v0.0 PNKD Zornitza Stark gene: PNKD was added
gene: PNKD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PNKD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PNKD were set to Paroxysmal nonkinesiogenic dyskinesia
Genomic newborn screening: BabyScreen+ v0.0 PMP22 Zornitza Stark gene: PMP22 was added
gene: PMP22 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PMP22 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PMP22 were set to Charcot-Marie-Tooth disease
Genomic newborn screening: BabyScreen+ v0.0 PMM2 Zornitza Stark gene: PMM2 was added
gene: PMM2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMM2 were set to Congenital disorder of glycosylation, type Ia
Genomic newborn screening: BabyScreen+ v0.0 PLPBP Zornitza Stark gene: PLPBP was added
gene: PLPBP was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: PLPBP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLPBP were set to Epilepsy, early-onset, vitamin B6-dependent , MIM#617290
Genomic newborn screening: BabyScreen+ v0.0 PLP1 Zornitza Stark gene: PLP1 was added
gene: PLP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PLP1 were set to Pelizaeus-Merzbacher disease; Spastic paraplegia 2, X-linked
Genomic newborn screening: BabyScreen+ v0.0 PLOD1 Zornitza Stark gene: PLOD1 was added
gene: PLOD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PLOD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLOD1 were set to Ehlers-Danlos syndrome, kyphoscoliotic type
Genomic newborn screening: BabyScreen+ v0.0 PLG Zornitza Stark gene: PLG was added
gene: PLG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PLG were set to 29548426; 28795768; 10233898; 9242524; 29987869; 21174000
Phenotypes for gene: PLG were set to Hereditary angioedema-4 (HAE4), MIM#619360; Plasminogen deficiency, type I, MIM# 217090
Genomic newborn screening: BabyScreen+ v0.0 PLEC Zornitza Stark gene: PLEC was added
gene: PLEC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PLEC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLEC were set to Muscular dystrophy; Epidermolysis bullosa simplex
Genomic newborn screening: BabyScreen+ v0.0 PLCE1 Zornitza Stark gene: PLCE1 was added
gene: PLCE1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PLCE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLCE1 were set to Nephrotic syndrome
Genomic newborn screening: BabyScreen+ v0.0 PLA2G6 Zornitza Stark gene: PLA2G6 was added
gene: PLA2G6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLA2G6 were set to Infantile neuroaxonal dystrophy 1
Genomic newborn screening: BabyScreen+ v0.0 PKLR Zornitza Stark gene: PKLR was added
gene: PKLR was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PKLR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PKLR were set to Pyruvate kinase deficiency, MIM#266200
Genomic newborn screening: BabyScreen+ v0.0 PKHD1 Zornitza Stark gene: PKHD1 was added
gene: PKHD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PKHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PKHD1 were set to Polycystic kidney and hepatic disease
Genomic newborn screening: BabyScreen+ v0.0 PKD2 Zornitza Stark gene: PKD2 was added
gene: PKD2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PKD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PKD2 were set to Polycystic kidney disease
Genomic newborn screening: BabyScreen+ v0.0 PKD1 Zornitza Stark gene: PKD1 was added
gene: PKD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PKD1 were set to Polycystic kidney disease
Genomic newborn screening: BabyScreen+ v0.0 PINK1 Zornitza Stark gene: PINK1 was added
gene: PINK1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PINK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PINK1 were set to Parkinson disease 6, early onset
Genomic newborn screening: BabyScreen+ v0.0 PIK3CD Zornitza Stark gene: PIK3CD was added
gene: PIK3CD was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: PIK3CD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PIK3CD were set to Immunodeficiency 14, MIM # 615513
Genomic newborn screening: BabyScreen+ v0.0 PIK3R1 Zornitza Stark gene: PIK3R1 was added
gene: PIK3R1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: PIK3R1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PIK3R1 were set to Agammaglobulinemia 7, autosomal recessive, MIM# 615214; Immunodeficiency 36, MIM# 616005
Genomic newborn screening: BabyScreen+ v0.0 PIGA Zornitza Stark gene: PIGA was added
gene: PIGA was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: PIGA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PIGA were set to 32694024; 24706016; 26545172; 24357517; 33333793; 22305531
Phenotypes for gene: PIGA were set to Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466
Genomic newborn screening: BabyScreen+ v0.0 PIEZO2 Zornitza Stark gene: PIEZO2 was added
gene: PIEZO2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PIEZO2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PIEZO2 were set to Arthrogryposis, distal, type 5
Genomic newborn screening: BabyScreen+ v0.0 PHYH Zornitza Stark gene: PHYH was added
gene: PHYH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHYH were set to Refsum disease
Genomic newborn screening: BabyScreen+ v0.0 PHKG2 Zornitza Stark gene: PHKG2 was added
gene: PHKG2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PHKG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHKG2 were set to Phosphorylase kinase deficiency
Genomic newborn screening: BabyScreen+ v0.0 PHKB Zornitza Stark gene: PHKB was added
gene: PHKB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PHKB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHKB were set to Phosphorylase kinase deficiency
Genomic newborn screening: BabyScreen+ v0.0 PHKA2 Zornitza Stark gene: PHKA2 was added
gene: PHKA2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PHKA2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PHKA2 were set to Phosphorylase kinase deficiency
Genomic newborn screening: BabyScreen+ v0.0 PHGDH Zornitza Stark gene: PHGDH was added
gene: PHGDH was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHGDH were set to Phosphoglycerate dehydrogenase deficiency, MIM# 601815
Genomic newborn screening: BabyScreen+ v0.0 PHEX Zornitza Stark gene: PHEX was added
gene: PHEX was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: PHEX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PHEX were set to Hypophosphatemic rickets, X-linked dominant, MIM# 307800
Genomic newborn screening: BabyScreen+ v0.0 PGM3 Zornitza Stark gene: PGM3 was added
gene: PGM3 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: PGM3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGM3 were set to Immunodeficiency 23, MIM# 615816
Genomic newborn screening: BabyScreen+ v0.0 PGM1 Zornitza Stark gene: PGM1 was added
gene: PGM1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGM1 were set to Congenital disorder of glycosylation, type It, MIM# 614921
Genomic newborn screening: BabyScreen+ v0.0 PHF6 Zornitza Stark gene: PHF6 was added
gene: PHF6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PHF6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PHF6 were set to Borjeson-Forssman-Lehmann syndrome
Genomic newborn screening: BabyScreen+ v0.0 PFKM Zornitza Stark gene: PFKM was added
gene: PFKM was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PFKM were set to Glycogen storage disease 7
Genomic newborn screening: BabyScreen+ v0.0 PEX7 Zornitza Stark gene: PEX7 was added
gene: PEX7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX7 were set to Rhizomelic chondrodysplasia punctata; Refsum disease
Genomic newborn screening: BabyScreen+ v0.0 PEX6 Zornitza Stark gene: PEX6 was added
gene: PEX6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX6 were set to Zellweger syndrome
Genomic newborn screening: BabyScreen+ v0.0 PEX5 Zornitza Stark gene: PEX5 was added
gene: PEX5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX5 were set to Zellweger syndrome
Genomic newborn screening: BabyScreen+ v0.0 PEX3 Zornitza Stark gene: PEX3 was added
gene: PEX3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PEX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX3 were set to Zellweger syndrome
Genomic newborn screening: BabyScreen+ v0.0 PEX26 Zornitza Stark gene: PEX26 was added
gene: PEX26 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX26 were set to Zellweger syndrome
Genomic newborn screening: BabyScreen+ v0.0 PEX2 Zornitza Stark gene: PEX2 was added
gene: PEX2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX2 were set to Zellweger syndrome
Genomic newborn screening: BabyScreen+ v0.0 PEX13 Zornitza Stark gene: PEX13 was added
gene: PEX13 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX13 were set to Zellweger syndrome
Genomic newborn screening: BabyScreen+ v0.0 PEX12 Zornitza Stark gene: PEX12 was added
gene: PEX12 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX12 were set to Zellweger syndrome
Genomic newborn screening: BabyScreen+ v0.0 PEX10 Zornitza Stark gene: PEX10 was added
gene: PEX10 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX10 were set to Zellweger syndrome
Genomic newborn screening: BabyScreen+ v0.0 PEX1 Zornitza Stark gene: PEX1 was added
gene: PEX1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX1 were set to Zellweger syndrome
Genomic newborn screening: BabyScreen+ v0.0 PDZD7 Zornitza Stark gene: PDZD7 was added
gene: PDZD7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PDZD7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDZD7 were set to Usher syndrome
Genomic newborn screening: BabyScreen+ v0.0 PDX1 Zornitza Stark gene: PDX1 was added
gene: PDX1 was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: PDX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDX1 were set to Pancreatic agenesis, MIM# # 260370
Genomic newborn screening: BabyScreen+ v0.0 PDSS2 Zornitza Stark gene: PDSS2 was added
gene: PDSS2 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: PDSS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDSS2 were set to Coenzyme Q10 deficiency, primary, 3, MIM# 614652
Genomic newborn screening: BabyScreen+ v0.0 PDSS1 Zornitza Stark gene: PDSS1 was added
gene: PDSS1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: PDSS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDSS1 were set to Coenzyme Q10 deficiency, primary, 2, MIM# 614651
Genomic newborn screening: BabyScreen+ v0.0 PDHX Zornitza Stark gene: PDHX was added
gene: PDHX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PDHX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDHX were set to Pyruvate dehydrogenase complex deficiency
Genomic newborn screening: BabyScreen+ v0.0 PDHA1 Zornitza Stark gene: PDHA1 was added
gene: PDHA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PDHA1 were set to Pyruvate dehydrogenase deficiency
Genomic newborn screening: BabyScreen+ v0.0 PDE4D Zornitza Stark gene: PDE4D was added
gene: PDE4D was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PDE4D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PDE4D were set to Acrodysostosis 2, with or without hormone resistance
Genomic newborn screening: BabyScreen+ v0.0 PCNT Zornitza Stark gene: PCNT was added
gene: PCNT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCNT were set to Microcephalic osteodysplastic primordial dwarfism type 2
Genomic newborn screening: BabyScreen+ v0.0 PCDH15 Zornitza Stark gene: PCDH15 was added
gene: PCDH15 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PCDH15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCDH15 were set to Usher syndrome
Genomic newborn screening: BabyScreen+ v0.0 PCCB Zornitza Stark gene: PCCB was added
gene: PCCB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCCB were set to Propionicacidemia
Genomic newborn screening: BabyScreen+ v0.0 PCCA Zornitza Stark gene: PCCA was added
gene: PCCA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCCA were set to Propionic acidaemia, MIM#606054
Genomic newborn screening: BabyScreen+ v0.0 PCBD1 Zornitza Stark gene: PCBD1 was added
gene: PCBD1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: PCBD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCBD1 were set to Hyperphenylalaninemia, BH4-deficient, D, MIM# 264070
Genomic newborn screening: BabyScreen+ v0.0 PC Zornitza Stark gene: PC was added
gene: PC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PC were set to Pyruvate carboxylase deficiency
Genomic newborn screening: BabyScreen+ v0.0 PAX8 Zornitza Stark gene: PAX8 was added
gene: PAX8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PAX8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PAX8 were set to Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia
Genomic newborn screening: BabyScreen+ v0.0 PAX6 Zornitza Stark gene: PAX6 was added
gene: PAX6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PAX6 were set to Aniridia
Genomic newborn screening: BabyScreen+ v0.0 PAX3 Zornitza Stark gene: PAX3 was added
gene: PAX3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PAX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PAX3 were set to Waardenburg syndrome
Genomic newborn screening: BabyScreen+ v0.0 PANK2 Zornitza Stark gene: PANK2 was added
gene: PANK2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PANK2 were set to Neurodegeneration with brain iron accumulation 1
Genomic newborn screening: BabyScreen+ v0.0 PALB2 Zornitza Stark gene: PALB2 was added
gene: PALB2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: PALB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PALB2 were set to 17200671
Phenotypes for gene: PALB2 were set to Fanconi anemia, complementation group N, MIM# 610832
Genomic newborn screening: BabyScreen+ v0.0 PAK3 Zornitza Stark gene: PAK3 was added
gene: PAK3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PAK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PAK3 were set to Mental retardation syndrome, X-linked
Genomic newborn screening: BabyScreen+ v0.0 PAH Zornitza Stark gene: PAH was added
gene: PAH was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PAH were set to Phenylketonuria, MIM#261600
Genomic newborn screening: BabyScreen+ v0.0 P2RY12 Zornitza Stark gene: P2RY12 was added
gene: P2RY12 was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: P2RY12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: P2RY12 were set to 29117459; 11196645; 19237732; 12578987
Phenotypes for gene: P2RY12 were set to Bleeding disorder, platelet-type, 8, MIM# 609821; MONDO:0012354
Genomic newborn screening: BabyScreen+ v0.0 OXCT1 Zornitza Stark gene: OXCT1 was added
gene: OXCT1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: OXCT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OXCT1 were set to Succinyl CoA:3-oxoacid CoA transferase deficiency, MIM# 245050
Genomic newborn screening: BabyScreen+ v0.0 OTOGL Zornitza Stark gene: OTOGL was added
gene: OTOGL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: OTOGL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OTOGL were set to Deafness, autosomal recessive
Genomic newborn screening: BabyScreen+ v0.0 OTOF Zornitza Stark gene: OTOF was added
gene: OTOF was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: OTOF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OTOF were set to Deafness, autosomal recessive
Genomic newborn screening: BabyScreen+ v0.0 OTOA Zornitza Stark gene: OTOA was added
gene: OTOA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: OTOA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OTOA were set to Deafness, autosomal recessive
Genomic newborn screening: BabyScreen+ v0.0 OTC Zornitza Stark gene: OTC was added
gene: OTC was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OTC were set to Ornithine transcarbamylase deficiency, MIM#311250
Genomic newborn screening: BabyScreen+ v0.0 OSTM1 Zornitza Stark gene: OSTM1 was added
gene: OSTM1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: OSTM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OSTM1 were set to Osteopetrosis
Genomic newborn screening: BabyScreen+ v0.0 OSMR Zornitza Stark gene: OSMR was added
gene: OSMR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: OSMR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: OSMR were set to Amyloidosis, primary cutaneous
Genomic newborn screening: BabyScreen+ v0.0 ORC1 Zornitza Stark gene: ORC1 was added
gene: ORC1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ORC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC1 were set to Meier-Gorlin syndrome
Genomic newborn screening: BabyScreen+ v0.0 OPA1 Zornitza Stark gene: OPA1 was added
gene: OPA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: OPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: OPA1 were set to Optic atrophy 1
Genomic newborn screening: BabyScreen+ v0.0 OFD1 Zornitza Stark gene: OFD1 was added
gene: OFD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OFD1 were set to Oral-facial-digital syndrome
Genomic newborn screening: BabyScreen+ v0.0 OCRL Zornitza Stark gene: OCRL was added
gene: OCRL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OCRL were set to Lowe oculocerebrorenal syndrome
Genomic newborn screening: BabyScreen+ v0.0 OCA2 Zornitza Stark gene: OCA2 was added
gene: OCA2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: OCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OCA2 were set to Albinism, oculocutaneous
Genomic newborn screening: BabyScreen+ v0.0 OBSL1 Zornitza Stark gene: OBSL1 was added
gene: OBSL1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: OBSL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OBSL1 were set to 3-M syndrome
Genomic newborn screening: BabyScreen+ v0.0 NTRK1 Zornitza Stark gene: NTRK1 was added
gene: NTRK1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NTRK1 were set to Congenital insensitivity to pain with anhidrosis MIM#256800
Genomic newborn screening: BabyScreen+ v0.0 NSD1 Zornitza Stark gene: NSD1 was added
gene: NSD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NSD1 were set to Sotos syndrome
Genomic newborn screening: BabyScreen+ v0.0 NR5A1 Zornitza Stark gene: NR5A1 was added
gene: NR5A1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: NR5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NR5A1 were set to 46, XX sex reversal 4, MIM# 617480; 46XY sex reversal 3, MIM# 612965
Genomic newborn screening: BabyScreen+ v0.0 NR3C2 Zornitza Stark gene: NR3C2 was added
gene: NR3C2 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: NR3C2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NR3C2 were set to Pseudohypoaldosteronism type I, autosomal dominant , MIM#177735
Genomic newborn screening: BabyScreen+ v0.0 NR0B1 Zornitza Stark gene: NR0B1 was added
gene: NR0B1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NR0B1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NR0B1 were set to Congenital adrenal hypoplasia
Genomic newborn screening: BabyScreen+ v0.0 NPHS1 Zornitza Stark gene: NPHS1 was added
gene: NPHS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NPHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHS1 were set to Congenital nephrotic syndrome, Finnish type
Genomic newborn screening: BabyScreen+ v0.0 NPHP4 Zornitza Stark gene: NPHP4 was added
gene: NPHP4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP4 were set to Nephronophthisis
Genomic newborn screening: BabyScreen+ v0.0 NPHP3 Zornitza Stark gene: NPHP3 was added
gene: NPHP3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP3 were set to Nephronophthisis
Genomic newborn screening: BabyScreen+ v0.0 NPHP1 Zornitza Stark gene: NPHP1 was added
gene: NPHP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP1 were set to Nephronophthisis
Genomic newborn screening: BabyScreen+ v0.0 NPC2 Zornitza Stark gene: NPC2 was added
gene: NPC2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPC2 were set to Niemann-Pick disease type C2, MIM#607625
Genomic newborn screening: BabyScreen+ v0.0 NPC1 Zornitza Stark gene: NPC1 was added
gene: NPC1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPC1 were set to Niemann-Pick disease type C1, MIM#257220
Genomic newborn screening: BabyScreen+ v0.0 NOTCH3 Zornitza Stark gene: NOTCH3 was added
gene: NOTCH3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NOTCH3 were set to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
Genomic newborn screening: BabyScreen+ v0.0 NOTCH2 Zornitza Stark gene: NOTCH2 was added
gene: NOTCH2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NOTCH2 were set to Hajdu-Cheney syndrome
Genomic newborn screening: BabyScreen+ v0.0 NOG Zornitza Stark gene: NOG was added
gene: NOG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NOG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NOG were set to Symphalangism, proximal, 1A
Genomic newborn screening: BabyScreen+ v0.0 NNT Zornitza Stark gene: NNT was added
gene: NNT was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: NNT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NNT were set to Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, MIM# 614736
Genomic newborn screening: BabyScreen+ v0.0 NKX2-1 Zornitza Stark gene: NKX2-1 was added
gene: NKX2-1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NKX2-1 were set to Choreoathetosis, hypothyroidism, and neonatal respiratory distress
Genomic newborn screening: BabyScreen+ v0.0 NIPBL Zornitza Stark gene: NIPBL was added
gene: NIPBL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NIPBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NIPBL were set to Cornelia de Lange syndrome
Genomic newborn screening: BabyScreen+ v0.0 NIPAL4 Zornitza Stark gene: NIPAL4 was added
gene: NIPAL4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NIPAL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NIPAL4 were set to Ichthyosis, autosomal recessive
Genomic newborn screening: BabyScreen+ v0.0 NHLRC1 Zornitza Stark gene: NHLRC1 was added
gene: NHLRC1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NHLRC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NHLRC1 were set to Myoclonic epilepsy of Lafora
Genomic newborn screening: BabyScreen+ v0.0 NHEJ1 Zornitza Stark gene: NHEJ1 was added
gene: NHEJ1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NHEJ1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NHEJ1 were set to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM#611291
Genomic newborn screening: BabyScreen+ v0.0 NGLY1 Zornitza Stark gene: NGLY1 was added
gene: NGLY1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NGLY1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NGLY1 were set to Developmental delay, multifocal epilepsy & abnormal liver function
Genomic newborn screening: BabyScreen+ v0.0 NF2 Zornitza Stark gene: NF2 was added
gene: NF2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NF2 were set to Neurofibromatosis 2
Genomic newborn screening: BabyScreen+ v0.0 NF1 Zornitza Stark gene: NF1 was added
gene: NF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NF1 were set to Neurofibromatosis, type 1
Genomic newborn screening: BabyScreen+ v0.0 NEUROG3 Zornitza Stark gene: NEUROG3 was added
gene: NEUROG3 was added to gNBS. Sources: BeginNGS,Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: NEUROG3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEUROG3 were set to 32574610; 16855267; 21490072; 28724572
Phenotypes for gene: NEUROG3 were set to Diarrhoea 4, malabsorptive, congenital, MIM# 610370
Genomic newborn screening: BabyScreen+ v0.0 NEU1 Zornitza Stark gene: NEU1 was added
gene: NEU1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NEU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEU1 were set to Sialidosis
Genomic newborn screening: BabyScreen+ v0.0 NEK8 Zornitza Stark gene: NEK8 was added
gene: NEK8 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: NEK8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEK8 were set to 26967905; 33131162; 26697755; 23274954; 26862157; 31633649; 23418306
Phenotypes for gene: NEK8 were set to MONDO:0014174; Renal-hepatic-pancreatic dysplasia 2, MIM# 615415
Genomic newborn screening: BabyScreen+ v0.0 NEK1 Zornitza Stark gene: NEK1 was added
gene: NEK1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: NEK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEK1 were set to 22499340; 21211617; 28123176; 25492405
Phenotypes for gene: NEK1 were set to Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520
Genomic newborn screening: BabyScreen+ v0.0 NEFL Zornitza Stark gene: NEFL was added
gene: NEFL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NEFL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NEFL were set to Charcot-Marie-Tooth disease
Genomic newborn screening: BabyScreen+ v0.0 NEB Zornitza Stark gene: NEB was added
gene: NEB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NEB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEB were set to Nemaline myopathy
Genomic newborn screening: BabyScreen+ v0.0 NDP Zornitza Stark gene: NDP was added
gene: NDP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NDP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NDP were set to Norrie disease
Genomic newborn screening: BabyScreen+ v0.0 NCF4 Zornitza Stark gene: NCF4 was added
gene: NCF4 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: NCF4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NCF4 were set to Chronic granulomatous disease 3, autosomal recessive, MIM# 613960
Genomic newborn screening: BabyScreen+ v0.0 NCF2 Zornitza Stark gene: NCF2 was added
gene: NCF2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NCF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NCF2 were set to Chronic granulomatous disease, MIM#233710
Genomic newborn screening: BabyScreen+ v0.0 NCF1 Zornitza Stark gene: NCF1 was added
gene: NCF1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NCF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NCF1 were set to Chronic granulomatous disease, MIM#233700
Genomic newborn screening: BabyScreen+ v0.0 NBN Zornitza Stark gene: NBN was added
gene: NBN was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NBN were set to Nijmegen breakage syndrome, MIM#251260
Genomic newborn screening: BabyScreen+ v0.0 NAGS Zornitza Stark gene: NAGS was added
gene: NAGS was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NAGS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGS were set to N-acetylglutamate synthetase deficiency, MIM#237310
Genomic newborn screening: BabyScreen+ v0.0 NAGLU Zornitza Stark gene: NAGLU was added
gene: NAGLU was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGLU were set to Sanfilippo syndrome type B
Genomic newborn screening: BabyScreen+ v0.0 NAGA Zornitza Stark gene: NAGA was added
gene: NAGA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NAGA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGA were set to N-acetylgalactosaminidase alpha deficiency
Genomic newborn screening: BabyScreen+ v0.0 MYSM1 Zornitza Stark gene: MYSM1 was added
gene: MYSM1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: MYSM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYSM1 were set to Bone marrow failure syndrome 4, MIM# 618116
Genomic newborn screening: BabyScreen+ v0.0 MYO9A Zornitza Stark gene: MYO9A was added
gene: MYO9A was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: MYO9A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO9A were set to Myasthenic syndrome, congenital, 24, presynaptic, MIM# 618198
Genomic newborn screening: BabyScreen+ v0.0 MYO7A Zornitza Stark gene: MYO7A was added
gene: MYO7A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MYO7A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO7A were set to Usher syndrome
Genomic newborn screening: BabyScreen+ v0.0 MYO6 Zornitza Stark gene: MYO6 was added
gene: MYO6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MYO6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO6 were set to Deafness
Genomic newborn screening: BabyScreen+ v0.0 MYO3A Zornitza Stark gene: MYO3A was added
gene: MYO3A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MYO3A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO3A were set to Sensorineural hearing loss
Genomic newborn screening: BabyScreen+ v0.0 MYO15A Zornitza Stark gene: MYO15A was added
gene: MYO15A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MYO15A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO15A were set to Sensorineural hearing loss
Genomic newborn screening: BabyScreen+ v0.0 MYH9 Zornitza Stark gene: MYH9 was added
gene: MYH9 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MYH9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYH9 were set to Macrothrombocytopenia and progressive sensorineural deafness
Genomic newborn screening: BabyScreen+ v0.0 MYH7 Zornitza Stark gene: MYH7 was added
gene: MYH7 was added to gNBS. Sources: BabySeq Category B gene,BabySeq Category A gene,Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: MYH7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYH7 were set to Laing early-onset distal myopathy, MONDO:0008050; Cardiomyopathy, hypertrophic, 1, OMIM:192600; Dilated cardiomyopathy 1S, MONDO:0013262; Hypertrophic cardiomyopathy 1, MONDO:0008647; Laing distal myopathy, OMIM:160500; Left ventricular noncompaction 5, OMIM:613426; Cardiomyopathy, dilated, 1S, OMIM:613426
Genomic newborn screening: BabyScreen+ v0.0 MYH3 Zornitza Stark gene: MYH3 was added
gene: MYH3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MYH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYH3 were set to Arthrogryposis, distal
Genomic newborn screening: BabyScreen+ v0.0 MYH2 Zornitza Stark gene: MYH2 was added
gene: MYH2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MYH2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYH2 were set to Proximal myopathy and ophthalmoplegia
Genomic newborn screening: BabyScreen+ v0.0 MYH14 Zornitza Stark gene: MYH14 was added
gene: MYH14 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MYH14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYH14 were set to Deafness, autosomal dominant
Genomic newborn screening: BabyScreen+ v0.0 MYCN Zornitza Stark gene: MYCN was added
gene: MYCN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MYCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYCN were set to Feingold syndrome
Genomic newborn screening: BabyScreen+ v0.0 MYBPC1 Zornitza Stark gene: MYBPC1 was added
gene: MYBPC1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: MYBPC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYBPC1 were set to 23873045; 20045868; 22610851; 26661508; 31025394; 31264822
Phenotypes for gene: MYBPC1 were set to Myopathy, congenital, with tremor MIM#618524; Lethal congenital contracture syndrome 4, MIM# 614915; Arthrogryposis, distal, type 1B 614335
Genomic newborn screening: BabyScreen+ v0.0 MVK Zornitza Stark gene: MVK was added
gene: MVK was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MVK were set to Hyperimmunoglobulin D and periodic fever syndrome, MIM#610377
Genomic newborn screening: BabyScreen+ v0.0 MUTYH Zornitza Stark gene: MUTYH was added
gene: MUTYH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MUTYH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MUTYH were set to MUTYH-associated polyposis
Genomic newborn screening: BabyScreen+ v0.0 MUT Zornitza Stark Source BabySeq Category A gene was added to MUT.
Added phenotypes Methylmalonic aciduria, mut(0) type for gene: MUT
Genomic newborn screening: BabyScreen+ v0.0 MUSK Zornitza Stark gene: MUSK was added
gene: MUSK was added to gNBS. Sources: BeginNGS:BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MUSK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MUSK were set to Congenital myasthenic syndrome, MIM#616325
Genomic newborn screening: BabyScreen+ v0.0 MTTP Zornitza Stark gene: MTTP was added
gene: MTTP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTTP were set to Abetalipoproteinaemia
Genomic newborn screening: BabyScreen+ v0.0 MTRR Zornitza Stark gene: MTRR was added
gene: MTRR was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTRR were set to Methylmalonic aciduria and homocystinuria, MIM#236270
Genomic newborn screening: BabyScreen+ v0.0 MTR Zornitza Stark gene: MTR was added
gene: MTR was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTR were set to Methylmalonic aciduria and homocystinuria, MIM#250940
Genomic newborn screening: BabyScreen+ v0.0 MTM1 Zornitza Stark gene: MTM1 was added
gene: MTM1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MTM1 were set to Myotubular myopathy, X-linked
Genomic newborn screening: BabyScreen+ v0.0 MSX2 Zornitza Stark gene: MSX2 was added
gene: MSX2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MSX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MSX2 were set to Parietal foramina 1
Genomic newborn screening: BabyScreen+ v0.0 MRAP Zornitza Stark gene: MRAP was added
gene: MRAP was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: MRAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRAP were set to Glucocorticoid deficiency 2, MIM# 607398
Genomic newborn screening: BabyScreen+ v0.0 MPZ Zornitza Stark gene: MPZ was added
gene: MPZ was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MPZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MPZ were set to Charcot-Marie-Tooth disease
Genomic newborn screening: BabyScreen+ v0.0 MPV17 Zornitza Stark gene: MPV17 was added
gene: MPV17 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPV17 were set to Mitochondrial DNA depletion syndrome, hepatic
Genomic newborn screening: BabyScreen+ v0.0 MPL Zornitza Stark gene: MPL was added
gene: MPL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPL were set to Amegakaryocytic thrombocytopaenia, congenital
Genomic newborn screening: BabyScreen+ v0.0 MPI Zornitza Stark gene: MPI was added
gene: MPI was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPI were set to Congenital disorder of glycosylation 1b
Genomic newborn screening: BabyScreen+ v0.0 MPDU1 Zornitza Stark gene: MPDU1 was added
gene: MPDU1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: MPDU1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPDU1 were set to 11733564; 11733556; 31741824; 29721919
Phenotypes for gene: MPDU1 were set to Congenital disorder of glycosylation, type If, MIM# 609180; MPDU1-CDG, MONDO:0012211
Genomic newborn screening: BabyScreen+ v0.0 MOCS2 Zornitza Stark gene: MOCS2 was added
gene: MOCS2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MOCS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MOCS2 were set to Molybdenum cofactor deficiency
Genomic newborn screening: BabyScreen+ v0.0 MOCS1 Zornitza Stark gene: MOCS1 was added
gene: MOCS1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MOCS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MOCS1 were set to Molybdenum cofactor deficiency, MIM#252150
Genomic newborn screening: BabyScreen+ v0.0 MUT Zornitza Stark gene: MUT was added
gene: MUT was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MUT were set to Methylmalonic aciduria, mut(0) type, MIM# 251000
Genomic newborn screening: BabyScreen+ v0.0 MMADHC Zornitza Stark gene: MMADHC was added
gene: MMADHC was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMADHC were set to Methylmalonic aciduria and homocystinuria, cblD type, MIM#277410
Genomic newborn screening: BabyScreen+ v0.0 MMACHC Zornitza Stark gene: MMACHC was added
gene: MMACHC was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400
Genomic newborn screening: BabyScreen+ v0.0 MMAB Zornitza Stark gene: MMAB was added
gene: MMAB was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMAB were set to Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, MIM#251110
Genomic newborn screening: BabyScreen+ v0.0 MMAA Zornitza Stark gene: MMAA was added
gene: MMAA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMAA were set to Methylmalonic aciduria, vitamin B12-responsive, MIM#251100
Genomic newborn screening: BabyScreen+ v0.0 MLYCD Zornitza Stark gene: MLYCD was added
gene: MLYCD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MLYCD were set to Malonyl-CoA decarboxylase deficiency
Genomic newborn screening: BabyScreen+ v0.0 MLC1 Zornitza Stark gene: MLC1 was added
gene: MLC1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MLC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MLC1 were set to Megalencephalic leukoencephalopathy
Genomic newborn screening: BabyScreen+ v0.0 MKS1 Zornitza Stark gene: MKS1 was added
gene: MKS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MKS1 were set to Meckel syndrome
Genomic newborn screening: BabyScreen+ v0.0 MKKS Zornitza Stark gene: MKKS was added
gene: MKKS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MKKS were set to Bardet-Biedl syndrome
Genomic newborn screening: BabyScreen+ v0.0 MITF Zornitza Stark gene: MITF was added
gene: MITF was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MITF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MITF were set to Waardenburg syndrome
Genomic newborn screening: BabyScreen+ v0.0 MGP Zornitza Stark gene: MGP was added
gene: MGP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MGP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MGP were set to Keutel syndrome
Genomic newborn screening: BabyScreen+ v0.0 MGAT2 Zornitza Stark gene: MGAT2 was added
gene: MGAT2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: MGAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MGAT2 were set to 22105986; 31420886; 11228641; 33044030; 8808595
Phenotypes for gene: MGAT2 were set to Congenital disorder of glycosylation, type IIa, MIM# 212066; MGAT2-CDG, MONDO:0008908
Genomic newborn screening: BabyScreen+ v0.0 MFSD8 Zornitza Stark gene: MFSD8 was added
gene: MFSD8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFSD8 were set to Ceroid lipofuscinosis, neuronal
Genomic newborn screening: BabyScreen+ v0.0 MFN2 Zornitza Stark gene: MFN2 was added
gene: MFN2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MFN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MFN2 were set to Charcot-Marie-Tooth disease
Genomic newborn screening: BabyScreen+ v0.0 MEN1 Zornitza Stark gene: MEN1 was added
gene: MEN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MEN1 were set to Multiple endocrine neoplasia I
Genomic newborn screening: BabyScreen+ v0.0 MEGF10 Zornitza Stark gene: MEGF10 was added
gene: MEGF10 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MEGF10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MEGF10 were set to Myopathy, areflexia, respiratory distress, and dysphagia, early-onset
Genomic newborn screening: BabyScreen+ v0.0 MEFV Zornitza Stark gene: MEFV was added
gene: MEFV was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MEFV was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MEFV were set to Mediterranean fever, familial
Genomic newborn screening: BabyScreen+ v0.0 MED25 Zornitza Stark gene: MED25 was added
gene: MED25 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED25 were set to 25792360; 32816121
Phenotypes for gene: MED25 were set to Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643; Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449
Genomic newborn screening: BabyScreen+ v0.0 MED12 Zornitza Stark gene: MED12 was added
gene: MED12 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MED12 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MED12 were set to Intellectual disability
Genomic newborn screening: BabyScreen+ v0.0 MECP2 Zornitza Stark gene: MECP2 was added
gene: MECP2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MECP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MECP2 were set to Rett syndrome
Genomic newborn screening: BabyScreen+ v0.0 MCPH1 Zornitza Stark gene: MCPH1 was added
gene: MCPH1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MCPH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCPH1 were set to Microcephaly 1, primary, autosomal recessive
Genomic newborn screening: BabyScreen+ v0.0 MCOLN1 Zornitza Stark gene: MCOLN1 was added
gene: MCOLN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCOLN1 were set to Mucolipidosis IV
Genomic newborn screening: BabyScreen+ v0.0 MCFD2 Zornitza Stark gene: MCFD2 was added
gene: MCFD2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MCFD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCFD2 were set to Factor V and Factor VIII deficiency, combined
Genomic newborn screening: BabyScreen+ v0.0 MCCC2 Zornitza Stark gene: MCCC2 was added
gene: MCCC2 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: MCCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCCC2 were set to 3-Methylcrotonyl-CoA carboxylase 2 deficiency, MIM# 210210
Genomic newborn screening: BabyScreen+ v0.0 MCCC1 Zornitza Stark gene: MCCC1 was added
gene: MCCC1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: MCCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCCC1 were set to 3-Methylcrotonyl-CoA carboxylase 1 deficiency, MIM# 210200
Genomic newborn screening: BabyScreen+ v0.0 MC2R Zornitza Stark gene: MC2R was added
gene: MC2R was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: MC2R was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MC2R were set to Glucocorticoid deficiency, due to ACTH unresponsiveness, MIM# 202200
Genomic newborn screening: BabyScreen+ v0.0 MBTPS2 Zornitza Stark gene: MBTPS2 was added
gene: MBTPS2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MBTPS2 were set to Ichthyosis follicularis, alopecia & photophobia
Genomic newborn screening: BabyScreen+ v0.0 MARVELD2 Zornitza Stark gene: MARVELD2 was added
gene: MARVELD2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MARVELD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MARVELD2 were set to Deafness, autosomal recessive
Genomic newborn screening: BabyScreen+ v0.0 MAP2K2 Zornitza Stark gene: MAP2K2 was added
gene: MAP2K2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MAP2K2 were set to Cardiofaciocutaneous syndrome
Genomic newborn screening: BabyScreen+ v0.0 MAP2K1 Zornitza Stark gene: MAP2K1 was added
gene: MAP2K1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MAP2K1 were set to Cardiofaciocutaneous syndrome
Genomic newborn screening: BabyScreen+ v0.0 MAN2B1 Zornitza Stark gene: MAN2B1 was added
gene: MAN2B1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAN2B1 were set to Mannosidosis, alpha
Genomic newborn screening: BabyScreen+ v0.0 MAGI2 Zornitza Stark gene: MAGI2 was added
gene: MAGI2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MAGI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MAGI2 were set to Infantile spasms
Genomic newborn screening: BabyScreen+ v0.0 MAFB Zornitza Stark gene: MAFB was added
gene: MAFB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MAFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MAFB were set to Multicentric carpotarsal osteolysis syndrome
Genomic newborn screening: BabyScreen+ v0.0 MAD2L2 Zornitza Stark gene: MAD2L2 was added
gene: MAD2L2 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: MAD2L2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAD2L2 were set to Fanconi anemia, complementation group V, MIM# 617243
Genomic newborn screening: BabyScreen+ v0.0 LYST Zornitza Stark gene: LYST was added
gene: LYST was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LYST were set to Chediak-Higashi syndrome, MIM#214500
Genomic newborn screening: BabyScreen+ v0.0 LTBP4 Zornitza Stark gene: LTBP4 was added
gene: LTBP4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LTBP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LTBP4 were set to Cutis laxa, autosomal recessive, type IC
Genomic newborn screening: BabyScreen+ v0.0 LRTOMT Zornitza Stark gene: LRTOMT was added
gene: LRTOMT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LRTOMT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRTOMT were set to Deafness, autosomal recessive
Genomic newborn screening: BabyScreen+ v0.0 LRSAM1 Zornitza Stark gene: LRSAM1 was added
gene: LRSAM1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LRSAM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LRSAM1 were set to Charcot-Marie-Tooth disease
Genomic newborn screening: BabyScreen+ v0.0 LRRC6 Zornitza Stark gene: LRRC6 was added
gene: LRRC6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LRRC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRRC6 were set to Primary ciliary dyskinesia
Genomic newborn screening: BabyScreen+ v0.0 LRPPRC Zornitza Stark gene: LRPPRC was added
gene: LRPPRC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LRPPRC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRPPRC were set to Leigh syndrome
Genomic newborn screening: BabyScreen+ v0.0 LRP5 Zornitza Stark gene: LRP5 was added
gene: LRP5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LRP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LRP5 were set to Osteopetrosis, autosomal dominant; Osteoporosis-pseudoglioma syndrome
Genomic newborn screening: BabyScreen+ v0.0 LRP4 Zornitza Stark gene: LRP4 was added
gene: LRP4 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LRP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRP4 were set to Cenani-Lenz syndactyly syndrome; Myasthenic syndrome, congenital, 17 , MIM#616304
Genomic newborn screening: BabyScreen+ v0.0 LRP2 Zornitza Stark gene: LRP2 was added
gene: LRP2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRP2 were set to Donnai-Barrow syndrome
Genomic newborn screening: BabyScreen+ v0.0 LOXHD1 Zornitza Stark gene: LOXHD1 was added
gene: LOXHD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LOXHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LOXHD1 were set to Deafness, autosomal recessive
Genomic newborn screening: BabyScreen+ v0.0 LMX1B Zornitza Stark gene: LMX1B was added
gene: LMX1B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LMX1B were set to Nail patella syndrome
Genomic newborn screening: BabyScreen+ v0.0 LMOD3 Zornitza Stark gene: LMOD3 was added
gene: LMOD3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LMOD3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMOD3 were set to Nemaline myopathy
Genomic newborn screening: BabyScreen+ v0.0 LMBRD1 Zornitza Stark gene: LMBRD1 was added
gene: LMBRD1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LMBRD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMBRD1 were set to Methylmalonic aciduria and homocystinuria, MIM#277380
Genomic newborn screening: BabyScreen+ v0.0 LITAF Zornitza Stark gene: LITAF was added
gene: LITAF was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LITAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LITAF were set to Charcot-Marie-Tooth disease
Genomic newborn screening: BabyScreen+ v0.0 LIPA Zornitza Stark gene: LIPA was added
gene: LIPA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIPA were set to Wolman syndrome, MIM#278000
Genomic newborn screening: BabyScreen+ v0.0 LIG4 Zornitza Stark gene: LIG4 was added
gene: LIG4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIG4 were set to Severe combined immunodeficiency with sensitivity to ionizing radiation
Genomic newborn screening: BabyScreen+ v0.0 LIFR Zornitza Stark gene: LIFR was added
gene: LIFR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LIFR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIFR were set to Stuve-Wiedemann syndrome
Genomic newborn screening: BabyScreen+ v0.0 LHX4 Zornitza Stark gene: LHX4 was added
gene: LHX4 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: LHX4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: LHX4 were set to Pituitary hormone deficiency, combined, 4, MIM# 262700
Genomic newborn screening: BabyScreen+ v0.0 LHX3 Zornitza Stark gene: LHX3 was added
gene: LHX3 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LHX3 were set to Pituitary hormone deficiency, combined, MIM#221750
Genomic newborn screening: BabyScreen+ v0.0 LHFPL5 Zornitza Stark gene: LHFPL5 was added
gene: LHFPL5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LHFPL5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LHFPL5 were set to Deafness, autosomal recessive
Genomic newborn screening: BabyScreen+ v0.0 LEPR Zornitza Stark gene: LEPR was added
gene: LEPR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LEPR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LEPR were set to Obesity, morbid, due to leptin receptor deficiency
Genomic newborn screening: BabyScreen+ v0.0 LDLR Zornitza Stark gene: LDLR was added
gene: LDLR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LDLR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LDLR were set to Hypercholesterolemia
Genomic newborn screening: BabyScreen+ v0.0 LARS2 Zornitza Stark gene: LARS2 was added
gene: LARS2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARS2 were set to Perrault syndrome
Genomic newborn screening: BabyScreen+ v0.0 LARGE1 Zornitza Stark gene: LARGE1 was added
gene: LARGE1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LARGE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARGE1 were set to Walker-Warburg syndrome
Genomic newborn screening: BabyScreen+ v0.0 LAMTOR2 Zornitza Stark gene: LAMTOR2 was added
gene: LAMTOR2 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: LAMTOR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMTOR2 were set to Immunodeficiency due to defect in MAPBP-interacting protein, MIM# 610798
Genomic newborn screening: BabyScreen+ v0.0 LAMP2 Zornitza Stark gene: LAMP2 was added
gene: LAMP2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: LAMP2 were set to Danon disease
Genomic newborn screening: BabyScreen+ v0.0 LAMC2 Zornitza Stark gene: LAMC2 was added
gene: LAMC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LAMC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMC2 were set to Epidermolysis bullosa, junctional
Genomic newborn screening: BabyScreen+ v0.0 LAMB3 Zornitza Stark gene: LAMB3 was added
gene: LAMB3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LAMB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMB3 were set to Epidermolysis bullosa, junctional
Genomic newborn screening: BabyScreen+ v0.0 LAMB2 Zornitza Stark gene: LAMB2 was added
gene: LAMB2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMB2 were set to Pierson syndrome
Genomic newborn screening: BabyScreen+ v0.0 LAMA3 Zornitza Stark gene: LAMA3 was added
gene: LAMA3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LAMA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMA3 were set to Epidermolysis bullosa, junctional
Genomic newborn screening: BabyScreen+ v0.0 LAMA2 Zornitza Stark gene: LAMA2 was added
gene: LAMA2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMA2 were set to Muscular dystrophy, congenital merosin-deficient
Genomic newborn screening: BabyScreen+ v0.0 L1CAM Zornitza Stark gene: L1CAM was added
gene: L1CAM was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: L1CAM were set to X-linked hydrocephalus syndrome
Genomic newborn screening: BabyScreen+ v0.0 KRT6A Zornitza Stark gene: KRT6A was added
gene: KRT6A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: KRT6A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT6A were set to Pachyonychia congenita
Genomic newborn screening: BabyScreen+ v0.0 KRT5 Zornitza Stark gene: KRT5 was added
gene: KRT5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: KRT5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT5 were set to Epidermolysis bullosa simplex
Genomic newborn screening: BabyScreen+ v0.0 KRT17 Zornitza Stark gene: KRT17 was added
gene: KRT17 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: KRT17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT17 were set to Pachyonychia congenita
Genomic newborn screening: BabyScreen+ v0.0 KRT16 Zornitza Stark gene: KRT16 was added
gene: KRT16 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: KRT16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT16 were set to Pachyonychia congenita
Genomic newborn screening: BabyScreen+ v0.0 KRT14 Zornitza Stark gene: KRT14 was added
gene: KRT14 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: KRT14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT14 were set to Epidermolysis bullosa simplex
Genomic newborn screening: BabyScreen+ v0.0 KRAS Zornitza Stark gene: KRAS was added
gene: KRAS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRAS were set to Noonan syndrome
Genomic newborn screening: BabyScreen+ v0.0 KMT2D Zornitza Stark gene: KMT2D was added
gene: KMT2D was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KMT2D were set to Kabuki syndrome 1
Genomic newborn screening: BabyScreen+ v0.0 KLHL41 Zornitza Stark gene: KLHL41 was added
gene: KLHL41 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: KLHL41 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KLHL41 were set to Nemaline myopathy
Genomic newborn screening: BabyScreen+ v0.0 KLHL40 Zornitza Stark gene: KLHL40 was added
gene: KLHL40 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: KLHL40 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KLHL40 were set to Nemaline myopathy
Genomic newborn screening: BabyScreen+ v0.0 KLF1 Zornitza Stark gene: KLF1 was added
gene: KLF1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: KLF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KLF1 were set to 33339573; 32815883; 32032242; 21055716; 32221653; 31818881
Phenotypes for gene: KLF1 were set to MONDO:0013355; Dyserythropoietic anaemia, congenital, type IV, MIM# 613673
Genomic newborn screening: BabyScreen+ v0.0 KIT Zornitza Stark gene: KIT was added
gene: KIT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: KIT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KIT were set to Piebaldism
Genomic newborn screening: BabyScreen+ v0.0 KIF21A Zornitza Stark gene: KIF21A was added
gene: KIF21A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: KIF21A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KIF21A were set to Fibrosis of extraocular muscles, congenital
Genomic newborn screening: BabyScreen+ v0.0 KDM6A Zornitza Stark gene: KDM6A was added
gene: KDM6A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: KDM6A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: KDM6A were set to Kabuki syndrome 2
Genomic newborn screening: BabyScreen+ v0.0 KCTD7 Zornitza Stark gene: KCTD7 was added
gene: KCTD7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: KCTD7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCTD7 were set to Epilepsy, progressive myoclonic
Genomic newborn screening: BabyScreen+ v0.0 KCNT1 Zornitza Stark gene: KCNT1 was added
gene: KCNT1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: KCNT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNT1 were set to Developmental and epileptic encephalopathy 14, MIM# 614959
Genomic newborn screening: BabyScreen+ v0.0 KCNQ4 Zornitza Stark gene: KCNQ4 was added
gene: KCNQ4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: KCNQ4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNQ4 were set to Deafness, autosomal dominant
Genomic newborn screening: BabyScreen+ v0.0 KCNQ2 Zornitza Stark gene: KCNQ2 was added
gene: KCNQ2 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNQ2 were set to Seizures, benign neonatal, 1, MIM# 121200; Developmental and epileptic encephalopathy 7, MIM# 613720
Genomic newborn screening: BabyScreen+ v0.0 KCNQ1 Zornitza Stark gene: KCNQ1 was added
gene: KCNQ1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: KCNQ1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: KCNQ1 were set to Short QT syndrome 2, MIM# 609621; Long QT syndrome 1, MIM# 192500; Jervell and Lange-Nielsen syndrome, MIM# 220400
Genomic newborn screening: BabyScreen+ v0.0 KCNJ2 Zornitza Stark gene: KCNJ2 was added
gene: KCNJ2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNJ2 were set to Andersen cardiodysrhythmic periodic paralysis
Genomic newborn screening: BabyScreen+ v0.0 KCNJ11 Zornitza Stark gene: KCNJ11 was added
gene: KCNJ11 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: KCNJ11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ11 were set to Hyperinsulinemic hypoglycemia, familial, MIM#601820
Genomic newborn screening: BabyScreen+ v0.0 KCNJ1 Zornitza Stark gene: KCNJ1 was added
gene: KCNJ1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: KCNJ1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ1 were set to Bartter syndrome
Genomic newborn screening: BabyScreen+ v0.0 KCNA1 Zornitza Stark gene: KCNA1 was added
gene: KCNA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: KCNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNA1 were set to Episodic ataxia type 1
Genomic newborn screening: BabyScreen+ v0.0 KBTBD13 Zornitza Stark gene: KBTBD13 was added
gene: KBTBD13 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: KBTBD13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KBTBD13 were set to Nemaline myopathy
Genomic newborn screening: BabyScreen+ v0.0 KAT6B Zornitza Stark gene: KAT6B was added
gene: KAT6B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: KAT6B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KAT6B were set to Genitopatellar syndrome
Genomic newborn screening: BabyScreen+ v0.0 KARS Zornitza Stark gene: KARS was added
gene: KARS was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KARS were set to 30737337; 30715177; 31116475
Phenotypes for gene: KARS were set to deafness with progressive leukodystrophy
Genomic newborn screening: BabyScreen+ v0.0 KANSL1 Zornitza Stark gene: KANSL1 was added
gene: KANSL1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: KANSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KANSL1 were set to Koolen-De Vries syndrome
Genomic newborn screening: BabyScreen+ v0.0 JAK3 Zornitza Stark gene: JAK3 was added
gene: JAK3 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: JAK3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: JAK3 were set to SCID, autosomal recessive, T-negative/B-positive type, MIM#600802
Genomic newborn screening: BabyScreen+ v0.0 JAG1 Zornitza Stark gene: JAG1 was added
gene: JAG1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: JAG1 were set to Alagille syndrome
Genomic newborn screening: BabyScreen+ v0.0 IYD Zornitza Stark gene: IYD was added
gene: IYD was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: IYD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IYD were set to 18765512; 30240412; 18434651
Phenotypes for gene: IYD were set to Thyroid dyshormonogenesis 4, MIM# 274800
Genomic newborn screening: BabyScreen+ v0.0 IVD Zornitza Stark gene: IVD was added
gene: IVD was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IVD were set to Isovaleric acidemia, MIM#243500
Genomic newborn screening: BabyScreen+ v0.0 ITGB4 Zornitza Stark gene: ITGB4 was added
gene: ITGB4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ITGB4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGB4 were set to Epidermolysis bullosa, junctional, with pyloric atresia
Genomic newborn screening: BabyScreen+ v0.0 ITGB2 Zornitza Stark gene: ITGB2 was added
gene: ITGB2 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: ITGB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGB2 were set to Leukocyte adhesion deficiency, MIM# 116920
Genomic newborn screening: BabyScreen+ v0.0 ITGA3 Zornitza Stark gene: ITGA3 was added
gene: ITGA3 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: ITGA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGA3 were set to Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital
Genomic newborn screening: BabyScreen+ v0.0 ISPD Zornitza Stark gene: ISPD was added
gene: ISPD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ISPD were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Genomic newborn screening: BabyScreen+ v0.0 IRF6 Zornitza Stark gene: IRF6 was added
gene: IRF6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: IRF6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: IRF6 were set to van der Woude syndrome MIM# 119300
Genomic newborn screening: BabyScreen+ v0.0 IRAK4 Zornitza Stark gene: IRAK4 was added
gene: IRAK4 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: IRAK4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IRAK4 were set to Immunodeficiency 67, MIM# 607676
Genomic newborn screening: BabyScreen+ v0.0 IQCB1 Zornitza Stark gene: IQCB1 was added
gene: IQCB1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: IQCB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IQCB1 were set to Senior-Loken syndrome 5
Genomic newborn screening: BabyScreen+ v0.0 INVS Zornitza Stark gene: INVS was added
gene: INVS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: INVS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INVS were set to Nephronophthisis 2
Genomic newborn screening: BabyScreen+ v0.0 INSR Zornitza Stark gene: INSR was added
gene: INSR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: INSR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INSR were set to Leprechaunism
Genomic newborn screening: BabyScreen+ v0.0 INS Zornitza Stark gene: INS was added
gene: INS was added to gNBS. Sources: Expert list,BeginNGS,Expert Review Green
Mode of inheritance for gene: INS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: INS were set to Diabetes mellitus, permanent neonatal MIM# 618858Permanent neonatal diabetes mellitus-4 (PNDM4) is characterized by chronic hyperglycemia due to severe nonautoimmune insulin deficiency diagnosed in the first months of life
Genomic newborn screening: BabyScreen+ v0.0 ILDR1 Zornitza Stark gene: ILDR1 was added
gene: ILDR1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ILDR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ILDR1 were set to Deafness, autosomal recessive
Genomic newborn screening: BabyScreen+ v0.0 IL7R Zornitza Stark gene: IL7R was added
gene: IL7R was added to gNBS. Sources: Expert list,BeginNGS,Expert Review Green
Mode of inheritance for gene: IL7R was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL7R were set to Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM#608971
Genomic newborn screening: BabyScreen+ v0.0 IL2RG Zornitza Stark gene: IL2RG was added
gene: IL2RG was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: IL2RG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IL2RG were set to Severe combined immunodeficiency, X-linked, MIM#312863
Genomic newborn screening: BabyScreen+ v0.0 IL2RB Zornitza Stark gene: IL2RB was added
gene: IL2RB was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: IL2RB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL2RB were set to Immunodeficiency 63 with lymphoproliferation and autoimmunity , MIM#618495
Genomic newborn screening: BabyScreen+ v0.0 IL10RB Zornitza Stark gene: IL10RB was added
gene: IL10RB was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: IL10RB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL10RB were set to Inflammatory bowel disease 25, early onset, autosomal recessive, MIM# 612567
Genomic newborn screening: BabyScreen+ v0.0 IL10RA Zornitza Stark gene: IL10RA was added
gene: IL10RA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: IL10RA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL10RA were set to Inflammatory bowel disease, MIM#613148
Genomic newborn screening: BabyScreen+ v0.0 IKBKG Zornitza Stark gene: IKBKG was added
gene: IKBKG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IKBKG were set to Incontinentia pigmenti 1
Genomic newborn screening: BabyScreen+ v0.0 IGSF1 Zornitza Stark gene: IGSF1 was added
gene: IGSF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: IGSF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IGSF1 were set to Central hypothyroidism and testicular enlargement
Genomic newborn screening: BabyScreen+ v0.0 IGLL1 Zornitza Stark gene: IGLL1 was added
gene: IGLL1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: IGLL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGLL1 were set to Agammaglobulinaemia 2, MIM# 613500
Genomic newborn screening: BabyScreen+ v0.0 IGHMBP2 Zornitza Stark gene: IGHMBP2 was added
gene: IGHMBP2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGHMBP2 were set to Spinal muscular atrophy with respiratory distress
Genomic newborn screening: BabyScreen+ v0.0 IGHM Zornitza Stark gene: IGHM was added
gene: IGHM was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: IGHM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGHM were set to Agammaglobulinaemia 1, MIM# 601495
Genomic newborn screening: BabyScreen+ v0.0 IDUA Zornitza Stark gene: IDUA was added
gene: IDUA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IDUA were set to Mucopolysaccharidosis Ih, MIM#607014
Genomic newborn screening: BabyScreen+ v0.0 IDS Zornitza Stark gene: IDS was added
gene: IDS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IDS were set to Mucopolysaccharidosis II
Genomic newborn screening: BabyScreen+ v0.0 HTRA1 Zornitza Stark gene: HTRA1 was added
gene: HTRA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HTRA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HTRA1 were set to CARASIL syndrome
Genomic newborn screening: BabyScreen+ v0.0 HSPG2 Zornitza Stark gene: HSPG2 was added
gene: HSPG2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HSPG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSPG2 were set to Schwartz-Jampel syndrome
Genomic newborn screening: BabyScreen+ v0.0 HSPB8 Zornitza Stark gene: HSPB8 was added
gene: HSPB8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HSPB8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HSPB8 were set to Charcot-Marie-Tooth disease, axonal, type 2L
Genomic newborn screening: BabyScreen+ v0.0 HSD3B7 Zornitza Stark gene: HSD3B7 was added
gene: HSD3B7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HSD3B7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD3B7 were set to 3 beta-hydroxysteroid dehydrogenase deficiency
Genomic newborn screening: BabyScreen+ v0.0 HSD3B2 Zornitza Stark gene: HSD3B2 was added
gene: HSD3B2 was added to gNBS. Sources: Expert list,BeginNGS,Expert Review Green
Mode of inheritance for gene: HSD3B2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD3B2 were set to Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency MIM# 201810
Genomic newborn screening: BabyScreen+ v0.0 HSD17B4 Zornitza Stark gene: HSD17B4 was added
gene: HSD17B4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD17B4 were set to D-bifunctional protein deficiency
Genomic newborn screening: BabyScreen+ v0.0 HSD17B3 Zornitza Stark gene: HSD17B3 was added
gene: HSD17B3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HSD17B3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD17B3 were set to Pseudohermaphroditism, male, with gynecomastia
Genomic newborn screening: BabyScreen+ v0.0 HSD17B10 Zornitza Stark gene: HSD17B10 was added
gene: HSD17B10 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HSD17B10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HSD17B10 were set to 17-beta-hydroxysteroid dehydrogenase X deficiency
Genomic newborn screening: BabyScreen+ v0.0 HRAS Zornitza Stark gene: HRAS was added
gene: HRAS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HRAS were set to Costello syndrome
Genomic newborn screening: BabyScreen+ v0.0 HPS5 Zornitza Stark gene: HPS5 was added
gene: HPS5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HPS5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS5 were set to Hermansky-Pudlak syndrome 5
Genomic newborn screening: BabyScreen+ v0.0 HPS4 Zornitza Stark gene: HPS4 was added
gene: HPS4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HPS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS4 were set to Hermansky-Pudlak syndrome 4
Genomic newborn screening: BabyScreen+ v0.0 HPS3 Zornitza Stark gene: HPS3 was added
gene: HPS3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HPS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS3 were set to Hermansky-Pudlak syndrome 3
Genomic newborn screening: BabyScreen+ v0.0 HPS1 Zornitza Stark gene: HPS1 was added
gene: HPS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS1 were set to Hermansky-Pudlak syndrome 1
Genomic newborn screening: BabyScreen+ v0.0 HPRT1 Zornitza Stark gene: HPRT1 was added
gene: HPRT1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HPRT1 were set to Lesch-Nyhan syndrome 1
Genomic newborn screening: BabyScreen+ v0.0 HPD Zornitza Stark gene: HPD was added
gene: HPD was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: HPD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: HPD were set to Hawkinsinuria , MIM#140350; Tyrosinaemia, type III 276710
Genomic newborn screening: BabyScreen+ v0.0 HOMER2 Zornitza Stark gene: HOMER2 was added
gene: HOMER2 was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: HOMER2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HOMER2 were set to Autosomal dominant non syndromic deafness
Genomic newborn screening: BabyScreen+ v0.0 HNF4A Zornitza Stark gene: HNF4A was added
gene: HNF4A was added to gNBS. Sources: BeginNGS,Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HNF4A were set to Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, MIM# 616026; Hypoglycaemia, hyperinsulinaemic, MIM#125850
Genomic newborn screening: BabyScreen+ v0.0 HNF1A Zornitza Stark gene: HNF1A was added
gene: HNF1A was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: HNF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HNF1A were set to MODY, type III , MIM#600496
Genomic newborn screening: BabyScreen+ v0.0 HMGCL Zornitza Stark gene: HMGCL was added
gene: HMGCL was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HMGCL were set to 3-hydroxy-3-methylglutaric aciduria, MIM#246450
Genomic newborn screening: BabyScreen+ v0.0 HLCS Zornitza Stark gene: HLCS was added
gene: HLCS was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HLCS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HLCS were set to Holocarboxylase synthetase deficiency, MIM#253270
Genomic newborn screening: BabyScreen+ v0.0 HK1 Zornitza Stark gene: HK1 was added
gene: HK1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: HK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HK1 were set to Haemolytic anaemia due to hexokinase deficiency , MIM#235700
Genomic newborn screening: BabyScreen+ v0.0 HINT1 Zornitza Stark gene: HINT1 was added
gene: HINT1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HINT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HINT1 were set to Axonal neuropathy with neuromyotonia
Genomic newborn screening: BabyScreen+ v0.0 HGSNAT Zornitza Stark gene: HGSNAT was added
gene: HGSNAT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HGSNAT were set to Mucopolysaccharidosis IIIC
Genomic newborn screening: BabyScreen+ v0.0 HGF Zornitza Stark gene: HGF was added
gene: HGF was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: HGF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HGF were set to Deafness, autosomal recessive
Genomic newborn screening: BabyScreen+ v0.0 HGD Zornitza Stark gene: HGD was added
gene: HGD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HGD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HGD were set to Alkaptonuria
Genomic newborn screening: BabyScreen+ v0.0 HEXB Zornitza Stark gene: HEXB was added
gene: HEXB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXB were set to Sandhoff disease, infantile, juvenile, and adult forms
Genomic newborn screening: BabyScreen+ v0.0 HEXA Zornitza Stark gene: HEXA was added
gene: HEXA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXA were set to Tay-Sachs disease
Genomic newborn screening: BabyScreen+ v0.0 HESX1 Zornitza Stark gene: HESX1 was added
gene: HESX1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: HESX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: HESX1 were set to Septooptic dysplasia, MIM# 182230
Genomic newborn screening: BabyScreen+ v0.0 HDAC8 Zornitza Stark gene: HDAC8 was added
gene: HDAC8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HDAC8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HDAC8 were set to Cornelia de Lange syndrome-like features, ocular hypertelorism & large fontanelle
Genomic newborn screening: BabyScreen+ v0.0 HCFC1 Zornitza Stark gene: HCFC1 was added
gene: HCFC1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: HCFC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HCFC1 were set to Methylmalonic aciduria and homocysteinemia, cblX type, MIM# 309541
Genomic newborn screening: BabyScreen+ v0.0 HBB Zornitza Stark gene: HBB was added
gene: HBB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HBB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HBB were set to Beta-thalassemia
Genomic newborn screening: BabyScreen+ v0.0 HBA2 Zornitza Stark gene: HBA2 was added
gene: HBA2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HBA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HBA2 were set to Thalassemia, alpha, MIM#604131
Genomic newborn screening: BabyScreen+ v0.0 HBA1 Zornitza Stark gene: HBA1 was added
gene: HBA1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HBA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HBA1 were set to Thalassaemia alpha, MIM#604131
Genomic newborn screening: BabyScreen+ v0.0 HAX1 Zornitza Stark gene: HAX1 was added
gene: HAX1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: HAX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HAX1 were set to Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738
Genomic newborn screening: BabyScreen+ v0.0 HARS2 Zornitza Stark gene: HARS2 was added
gene: HARS2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: HARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HARS2 were set to Perrault syndrome; autosomal recessive sensorineural hearing loss
Genomic newborn screening: BabyScreen+ v0.0 HADHB Zornitza Stark gene: HADHB was added
gene: HADHB was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHB were set to Mitochondrial trifunctional protein deficiency, MIM#609015
Genomic newborn screening: BabyScreen+ v0.0 HADHA Zornitza Stark gene: HADHA was added
gene: HADHA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHA were set to Mitochondrial trifunctional protein deficiency, MIM#609015; LCHAD deficiency, MIM# 609016
Genomic newborn screening: BabyScreen+ v0.0 HADH Zornitza Stark gene: HADH was added
gene: HADH was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADH were set to Hyperinsulinemic hypoglycemia, familial, 4, MIM#609975
Genomic newborn screening: BabyScreen+ v0.0 GYS2 Zornitza Stark gene: GYS2 was added
gene: GYS2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GYS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GYS2 were set to Glycogen storage disease 0
Genomic newborn screening: BabyScreen+ v0.0 GUSB Zornitza Stark gene: GUSB was added
gene: GUSB was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GUSB were set to Mucopolysaccharidosis VII, MIM#253220
Genomic newborn screening: BabyScreen+ v0.0 GSS Zornitza Stark gene: GSS was added
gene: GSS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GSS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GSS were set to Glutathione synthetase deficiency
Genomic newborn screening: BabyScreen+ v0.0 GRXCR1 Zornitza Stark gene: GRXCR1 was added
gene: GRXCR1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: GRXCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRXCR1 were set to 26445815; 20137778; 20137774; 26226137; 25802247; 26969326
Phenotypes for gene: GRXCR1 were set to Deafness, autosomal recessive 25, MIM# 613285
Genomic newborn screening: BabyScreen+ v0.0 GRHPR Zornitza Stark gene: GRHPR was added
gene: GRHPR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GRHPR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRHPR were set to Hyperoxaluria, primary, type II
Genomic newborn screening: BabyScreen+ v0.0 GRHL2 Zornitza Stark gene: GRHL2 was added
gene: GRHL2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: GRHL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GRHL2 were set to Autosomal dominant hearing loss, MIM# 608641
Genomic newborn screening: BabyScreen+ v0.0 GPSM2 Zornitza Stark gene: GPSM2 was added
gene: GPSM2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GPSM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPSM2 were set to Chudley-McCullough syndrome
Genomic newborn screening: BabyScreen+ v0.0 GPR143 Zornitza Stark gene: GPR143 was added
gene: GPR143 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GPR143 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GPR143 were set to Ocular albinism, type I
Genomic newborn screening: BabyScreen+ v0.0 GPC3 Zornitza Stark gene: GPC3 was added
gene: GPC3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GPC3 were set to Simpson-Golabi-Behmel syndrome
Genomic newborn screening: BabyScreen+ v0.0 GOT2 Zornitza Stark gene: GOT2 was added
gene: GOT2 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: GOT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GOT2 were set to Developmental and epileptic encephalopathy 82, MIM# 618721
Genomic newborn screening: BabyScreen+ v0.0 GNS Zornitza Stark gene: GNS was added
gene: GNS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNS were set to Mucopolysaccharidosis IIId
Genomic newborn screening: BabyScreen+ v0.0 GNPTG Zornitza Stark gene: GNPTG was added
gene: GNPTG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPTG were set to Mucolipidosis III gamma
Genomic newborn screening: BabyScreen+ v0.0 GNPTAB Zornitza Stark gene: GNPTAB was added
gene: GNPTAB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPTAB were set to Mucolipidosis II
Genomic newborn screening: BabyScreen+ v0.0 GNE Zornitza Stark gene: GNE was added
gene: GNE was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNE were set to Inclusion body myopathy
Genomic newborn screening: BabyScreen+ v0.0 GNAS Zornitza Stark gene: GNAS was added
gene: GNAS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GNAS was set to Unknown
Phenotypes for gene: GNAS were set to Pseudopseudohypoparathyroidism; Pseudohypoparathyroidism
Genomic newborn screening: BabyScreen+ v0.0 GLUD1 Zornitza Stark gene: GLUD1 was added
gene: GLUD1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GLUD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GLUD1 were set to Hyperinsulinism, MIM#606762
Genomic newborn screening: BabyScreen+ v0.0 GLRB Zornitza Stark gene: GLRB was added
gene: GLRB was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: GLRB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLRB were set to Hyperekplexia 2, MIM# 614619
Genomic newborn screening: BabyScreen+ v0.0 GLRA1 Zornitza Stark gene: GLRA1 was added
gene: GLRA1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GLRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GLRA1 were set to Hyperekplexia, hereditary 1, autosomal dominant or recessive, MIM#149400
Genomic newborn screening: BabyScreen+ v0.0 GLIS3 Zornitza Stark gene: GLIS3 was added
gene: GLIS3 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: GLIS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLIS3 were set to Diabetes mellitus, neonatal, with congenital hypothyroidism, MIM# 610199
Genomic newborn screening: BabyScreen+ v0.0 GLI3 Zornitza Stark gene: GLI3 was added
gene: GLI3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GLI3 were set to Greig cephalopolysyndactyly syndrome
Genomic newborn screening: BabyScreen+ v0.0 GLDC Zornitza Stark gene: GLDC was added
gene: GLDC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GLDC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLDC were set to Glycine encephalopathy
Genomic newborn screening: BabyScreen+ v0.0 GLB1 Zornitza Stark gene: GLB1 was added
gene: GLB1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLB1 were set to Gangliosidosis GM1
Genomic newborn screening: BabyScreen+ v0.0 GLA Zornitza Stark gene: GLA was added
gene: GLA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GLA were set to Fabry disease
Genomic newborn screening: BabyScreen+ v0.0 GJC2 Zornitza Stark gene: GJC2 was added
gene: GJC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GJC2 were set to Pelizaeus-Merzbacher-like disease
Genomic newborn screening: BabyScreen+ v0.0 GJB2 Zornitza Stark gene: GJB2 was added
gene: GJB2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GJB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GJB2 were set to Deafness and palmoplantar keratoderma; Deafness
Genomic newborn screening: BabyScreen+ v0.0 GJB1 Zornitza Stark gene: GJB1 was added
gene: GJB1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GJB1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GJB1 were set to Charcot-Marie-Tooth neuropathy
Genomic newborn screening: BabyScreen+ v0.0 GJA1 Zornitza Stark gene: GJA1 was added
gene: GJA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GJA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GJA1 were set to Oculodentodigital dysplasia
Genomic newborn screening: BabyScreen+ v0.0 GIPC3 Zornitza Stark gene: GIPC3 was added
gene: GIPC3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GIPC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GIPC3 were set to Hearing loss
Genomic newborn screening: BabyScreen+ v0.0 GIF Zornitza Stark Source Expert list was added to GIF.
Added phenotypes Intrinsic factor deficiency # 261000 for gene: GIF
Genomic newborn screening: BabyScreen+ v0.0 GGCX Zornitza Stark gene: GGCX was added
gene: GGCX was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: GGCX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GGCX were set to Vitamin K-dependent clotting factors, combined deficiency of, 1 MIM# 277450
Genomic newborn screening: BabyScreen+ v0.0 GFPT1 Zornitza Stark gene: GFPT1 was added
gene: GFPT1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GFPT1 were set to Congenital myasthenic syndrome, limb-girdle, MIM#610542
Genomic newborn screening: BabyScreen+ v0.0 GFM1 Zornitza Stark gene: GFM1 was added
gene: GFM1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GFM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GFM1 were set to Combined oxidative phosphorylation deficiency 1
Genomic newborn screening: BabyScreen+ v0.0 GFAP Zornitza Stark gene: GFAP was added
gene: GFAP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GFAP were set to Alexander disease
Genomic newborn screening: BabyScreen+ v0.0 GDAP1 Zornitza Stark gene: GDAP1 was added
gene: GDAP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GDAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GDAP1 were set to Charcot-Marie-Tooth disease
Genomic newborn screening: BabyScreen+ v0.0 GCK Zornitza Stark gene: GCK was added
gene: GCK was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GCK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GCK were set to Hyperinsulinemic hypoglycemia, familial, MIM#602485
Genomic newborn screening: BabyScreen+ v0.0 GCH1 Zornitza Stark gene: GCH1 was added
gene: GCH1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: GCH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GCH1 were set to Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230
Genomic newborn screening: BabyScreen+ v0.0 GCDH Zornitza Stark gene: GCDH was added
gene: GCDH was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GCDH were set to Glutaric aciduria, type I, MIM#231670
Genomic newborn screening: BabyScreen+ v0.0 GBA Zornitza Stark gene: GBA was added
gene: GBA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBA were set to Gaucher disease 1
Genomic newborn screening: BabyScreen+ v0.0 GATA4 Zornitza Stark gene: GATA4 was added
gene: GATA4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GATA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GATA4 were set to Congenital heart defects
Genomic newborn screening: BabyScreen+ v0.0 GATA3 Zornitza Stark gene: GATA3 was added
gene: GATA3 was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GATA3 were set to Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255
Genomic newborn screening: BabyScreen+ v0.0 GATA2 Zornitza Stark gene: GATA2 was added
gene: GATA2 was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GATA2 were set to PMID: 25397911, 30047422
Phenotypes for gene: GATA2 were set to Immunodeficiency 21 MIM# 614172; Emberger syndrome MIM# 614038
Genomic newborn screening: BabyScreen+ v0.0 GATA1 Zornitza Stark gene: GATA1 was added
gene: GATA1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GATA1 were set to Blackfan-Diamond anaemia, ORPHA:124; Anaemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM# 300835; Congenital erythropoietic porphyria, ORPHA:79277; Thrombocytopenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367
Genomic newborn screening: BabyScreen+ v0.0 GAN Zornitza Stark gene: GAN was added
gene: GAN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GAN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAN were set to Giant axonal neuropathy
Genomic newborn screening: BabyScreen+ v0.0 GAMT Zornitza Stark gene: GAMT was added
gene: GAMT was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAMT were set to Cerebral creatine deficiency syndrome 2, MIM# 612736
Genomic newborn screening: BabyScreen+ v0.0 GALT Zornitza Stark gene: GALT was added
gene: GALT was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALT were set to Galactosaemia, MIM#230400
Genomic newborn screening: BabyScreen+ v0.0 GALNS Zornitza Stark gene: GALNS was added
gene: GALNS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALNS were set to Mucopolysaccharidosis IVA
Genomic newborn screening: BabyScreen+ v0.0 GALK1 Zornitza Stark gene: GALK1 was added
gene: GALK1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GALK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALK1 were set to Galactokinase deficiency with cataracts, MIM#230200
Genomic newborn screening: BabyScreen+ v0.0 GALE Zornitza Stark gene: GALE was added
gene: GALE was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: GALE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALE were set to Galactose epimerase deficiency , MIM#230350
Genomic newborn screening: BabyScreen+ v0.0 GALC Zornitza Stark gene: GALC was added
gene: GALC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALC were set to Krabbe disease
Genomic newborn screening: BabyScreen+ v0.0 GAA Zornitza Stark gene: GAA was added
gene: GAA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAA were set to Glycogen storage disease II, MIM#232300
Genomic newborn screening: BabyScreen+ v0.0 G6PD Zornitza Stark gene: G6PD was added
gene: G6PD was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: G6PD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: G6PD were set to Glucose-6-phosphate dehydrogenase deficiency, MIM#300908
Genomic newborn screening: BabyScreen+ v0.0 G6PC3 Zornitza Stark gene: G6PC3 was added
gene: G6PC3 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: G6PC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: G6PC3 were set to Neutropaenia, congenital, MIM#612541
Genomic newborn screening: BabyScreen+ v0.0 G6PC Zornitza Stark gene: G6PC was added
gene: G6PC was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: G6PC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: G6PC were set to Glycogen storage disease Ia, MIM#232200
Genomic newborn screening: BabyScreen+ v0.0 FXN Zornitza Stark gene: FXN was added
gene: FXN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FXN were set to Friedreich ataxia
Genomic newborn screening: BabyScreen+ v0.0 FUCA1 Zornitza Stark gene: FUCA1 was added
gene: FUCA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FUCA1 were set to Fucosidosis
Genomic newborn screening: BabyScreen+ v0.0 FTL Zornitza Stark gene: FTL was added
gene: FTL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FTL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FTL were set to Neuroferritinopathy
Genomic newborn screening: BabyScreen+ v0.0 FRAS1 Zornitza Stark gene: FRAS1 was added
gene: FRAS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FRAS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FRAS1 were set to Fraser syndrome
Genomic newborn screening: BabyScreen+ v0.0 FOXP3 Zornitza Stark gene: FOXP3 was added
gene: FOXP3 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FOXP3 were set to IPEX syndrome, MIM#304790
Genomic newborn screening: BabyScreen+ v0.0 FOXN1 Zornitza Stark gene: FOXN1 was added
gene: FOXN1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: FOXN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: FOXN1 were set to T-cell immunodeficiency, congenital alopecia, and nail dystrophy , MIM#601705; T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant, MIM# 618806
Genomic newborn screening: BabyScreen+ v0.0 FOXI1 Zornitza Stark gene: FOXI1 was added
gene: FOXI1 was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: FOXI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOXI1 were set to sensorineural deafness and distal renal tubular acidosis
Genomic newborn screening: BabyScreen+ v0.0 FOXF1 Zornitza Stark gene: FOXF1 was added
gene: FOXF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FOXF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FOXF1 were set to Alveolar capillary dysplasia with misalignment of pulmonary veins
Genomic newborn screening: BabyScreen+ v0.0 FOXC2 Zornitza Stark gene: FOXC2 was added
gene: FOXC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FOXC2 were set to Lymphoedema, primary
Genomic newborn screening: BabyScreen+ v0.0 FOXC1 Zornitza Stark gene: FOXC1 was added
gene: FOXC1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FOXC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FOXC1 were set to Axenfeld-Rieger syndrome
Genomic newborn screening: BabyScreen+ v0.0 FOXA2 Zornitza Stark gene: FOXA2 was added
gene: FOXA2 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: FOXA2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: FOXA2 were set to Combined pituitary hormone deficiencies, genetic forms, ORPHA:95494; Congenital isolated hyperinsulinism, ORPHA:657
Genomic newborn screening: BabyScreen+ v0.0 FLNA Zornitza Stark gene: FLNA was added
gene: FLNA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FLNA were set to Otopalatodigital spectrum disorder
Genomic newborn screening: BabyScreen+ v0.0 FLCN Zornitza Stark gene: FLCN was added
gene: FLCN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FLCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FLCN were set to Birt-Hogg-Dube syndrome
Genomic newborn screening: BabyScreen+ v0.0 FLAD1 Zornitza Stark gene: FLAD1 was added
gene: FLAD1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: FLAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FLAD1 were set to Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, MIM# 255100
Genomic newborn screening: BabyScreen+ v0.0 FKTN Zornitza Stark gene: FKTN was added
gene: FKTN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKTN were set to Muscular dystrophy, Fukuyama; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies
Genomic newborn screening: BabyScreen+ v0.0 FKRP Zornitza Stark gene: FKRP was added
gene: FKRP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKRP were set to Muscle-eye-brain disease; Muscular dystrophy, limb girdle 2I
Genomic newborn screening: BabyScreen+ v0.0 FH Zornitza Stark gene: FH was added
gene: FH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FH were set to Fumurase deficiency MIM# 606812
Genomic newborn screening: BabyScreen+ v0.0 FGG Zornitza Stark gene: FGG was added
gene: FGG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FGG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FGG were set to Afibrinogenaemia
Genomic newborn screening: BabyScreen+ v0.0 FGFR3 Zornitza Stark gene: FGFR3 was added
gene: FGFR3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGFR3 were set to Muenke syndrome; Thanatophoric dysplasia type 1; Crouzon syndrome with acanthosis nigricans; LADD syndrome; Hypochondroplasia; Achondroplasia; CATSHL syndrome
Genomic newborn screening: BabyScreen+ v0.0 FGFR2 Zornitza Stark gene: FGFR2 was added
gene: FGFR2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGFR2 were set to Jackson-Weiss syndrome; Apert syndrome; Crouzon syndrome; Pfeiffer syndrome; Beare-Stevenson cutis gyrata syndrome
Genomic newborn screening: BabyScreen+ v0.0 FGFR1 Zornitza Stark gene: FGFR1 was added
gene: FGFR1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGFR1 were set to Kallmann syndrome
Genomic newborn screening: BabyScreen+ v0.0 FGF3 Zornitza Stark gene: FGF3 was added
gene: FGF3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FGF3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FGF3 were set to Deafness, congenital with inner ear agenesis, microtia, and microdontia
Genomic newborn screening: BabyScreen+ v0.0 FGD4 Zornitza Stark gene: FGD4 was added
gene: FGD4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FGD4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FGD4 were set to Charcot-Marie-Tooth disease
Genomic newborn screening: BabyScreen+ v0.0 FGD1 Zornitza Stark gene: FGD1 was added
gene: FGD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FGD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FGD1 were set to Aarskog-Scott syndrome
Genomic newborn screening: BabyScreen+ v0.0 FGB Zornitza Stark gene: FGB was added
gene: FGB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FGB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FGB were set to Afibrinogenaemia
Genomic newborn screening: BabyScreen+ v0.0 FGA Zornitza Stark gene: FGA was added
gene: FGA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FGA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FGA were set to Afibrinogenaemia
Genomic newborn screening: BabyScreen+ v0.0 FERMT3 Zornitza Stark gene: FERMT3 was added
gene: FERMT3 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: FERMT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FERMT3 were set to Leukocyte adhesion deficiency, type III, MIM# 612840
Genomic newborn screening: BabyScreen+ v0.0 FBP1 Zornitza Stark gene: FBP1 was added
gene: FBP1 was added to gNBS. Sources: Expert list,BeginNGS,Expert Review Green
Mode of inheritance for gene: FBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBP1 were set to Fructose-1,6-bisphosphatase deficiency MIM# 229700
Genomic newborn screening: BabyScreen+ v0.0 FBN2 Zornitza Stark gene: FBN2 was added
gene: FBN2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FBN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: FBN2 were set to 33571691
Phenotypes for gene: FBN2 were set to Contractural arachnodactyly, congenital MIM#121050
Genomic newborn screening: BabyScreen+ v0.0 FBN1 Zornitza Stark gene: FBN1 was added
gene: FBN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FBN1 were set to Marfan's syndrome; Weill-Marchesani syndrome 2, dominant; Shprintzen-Goldberg syndrome
Genomic newborn screening: BabyScreen+ v0.0 FAS Zornitza Stark gene: FAS was added
gene: FAS was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: FAS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: FAS were set to Autoimmune lymphoproliferative syndrome, type IA, MIM# 601859
Genomic newborn screening: BabyScreen+ v0.0 FANCL Zornitza Stark gene: FANCL was added
gene: FANCL was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCL were set to Fanconi anaemia, MIM#614083
Genomic newborn screening: BabyScreen+ v0.0 FANCI Zornitza Stark gene: FANCI was added
gene: FANCI was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCI were set to Fanconi anaemia, MIM#609053
Genomic newborn screening: BabyScreen+ v0.0 FANCG Zornitza Stark gene: FANCG was added
gene: FANCG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCG were set to Fanconi anaemia, MIM#614082
Genomic newborn screening: BabyScreen+ v0.0 FANCF Zornitza Stark gene: FANCF was added
gene: FANCF was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCF were set to Fanconi anaemia, MIM#603467
Genomic newborn screening: BabyScreen+ v0.0 FANCE Zornitza Stark gene: FANCE was added
gene: FANCE was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCE were set to Fanconi anaemia, MIM#600901
Genomic newborn screening: BabyScreen+ v0.0 FANCD2 Zornitza Stark gene: FANCD2 was added
gene: FANCD2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCD2 were set to Fanconi anaemia, MIM#227646
Genomic newborn screening: BabyScreen+ v0.0 FANCC Zornitza Stark gene: FANCC was added
gene: FANCC was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCC were set to Fanconi anaemia, MIM#227645
Genomic newborn screening: BabyScreen+ v0.0 FANCB Zornitza Stark gene: FANCB was added
gene: FANCB was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FANCB were set to Fanconi anaemia, MIM#300514
Genomic newborn screening: BabyScreen+ v0.0 FANCA Zornitza Stark gene: FANCA was added
gene: FANCA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCA were set to Fanconi anaemia, MIM#227650
Genomic newborn screening: BabyScreen+ v0.0 FAM58A Zornitza Stark gene: FAM58A was added
gene: FAM58A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FAM58A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FAM58A were set to Syndactyly - telecanthus - anogenital and renal malformations
Genomic newborn screening: BabyScreen+ v0.0 FAM20C Zornitza Stark gene: FAM20C was added
gene: FAM20C was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM20C were set to Osteosclerotic bone dysplasia
Genomic newborn screening: BabyScreen+ v0.0 FAM161A Zornitza Stark gene: FAM161A was added
gene: FAM161A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FAM161A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM161A were set to Retinal dystrophy
Genomic newborn screening: BabyScreen+ v0.0 FAM126A Zornitza Stark gene: FAM126A was added
gene: FAM126A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM126A were set to Hypomyelination and congenital cataract
Genomic newborn screening: BabyScreen+ v0.0 FAH Zornitza Stark gene: FAH was added
gene: FAH was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAH were set to Tyrosinaemia, type I, MIM#276700
Genomic newborn screening: BabyScreen+ v0.0 F9 Zornitza Stark gene: F9 was added
gene: F9 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: F9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: F9 were set to Haemophilia B, MIM#306900
Genomic newborn screening: BabyScreen+ v0.0 F8 Zornitza Stark gene: F8 was added
gene: F8 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: F8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: F8 were set to Haemophilia A, MIM#306700
Genomic newborn screening: BabyScreen+ v0.0 F7 Zornitza Stark gene: F7 was added
gene: F7 was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: F7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: F7 were set to Factor VII deficiency MIM# 227500
Genomic newborn screening: BabyScreen+ v0.0 F5 Zornitza Stark gene: F5 was added
gene: F5 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: F5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: F5 were set to Factor V deficiency MIM# 227400; Thrombophilia due to activated protein C resistance MIM# 188055
Genomic newborn screening: BabyScreen+ v0.0 F2 Zornitza Stark gene: F2 was added
gene: F2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: F2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: F2 were set to Prothrombin deficiency, MIM#613679
Genomic newborn screening: BabyScreen+ v0.0 F13B Zornitza Stark gene: F13B was added
gene: F13B was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: F13B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: F13B were set to Factor XIIIB deficiency, MIM# 613235
Genomic newborn screening: BabyScreen+ v0.0 F13A1 Zornitza Stark gene: F13A1 was added
gene: F13A1 was added to gNBS. Sources: Expert list,BeginNGS,Expert Review Green
Mode of inheritance for gene: F13A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: F13A1 were set to Factor XIIIA deficiency, MIM# 613225
Genomic newborn screening: BabyScreen+ v0.0 F11 Zornitza Stark gene: F11 was added
gene: F11 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: F11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: F11 were set to Factor XI deficiency
Genomic newborn screening: BabyScreen+ v0.0 F10 Zornitza Stark gene: F10 was added
gene: F10 was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: F10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: F10 were set to Factor X deficiency, MIM# 227600
Genomic newborn screening: BabyScreen+ v0.0 EZH2 Zornitza Stark gene: EZH2 was added
gene: EZH2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: EZH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EZH2 were set to Weaver syndrome 2
Genomic newborn screening: BabyScreen+ v0.0 EYA4 Zornitza Stark gene: EYA4 was added
gene: EYA4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: EYA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EYA4 were set to Deafness, autosomal dominant
Genomic newborn screening: BabyScreen+ v0.0 EYA1 Zornitza Stark gene: EYA1 was added
gene: EYA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: EYA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EYA1 were set to Branchiootorenal syndrome
Genomic newborn screening: BabyScreen+ v0.0 EXT2 Zornitza Stark gene: EXT2 was added
gene: EXT2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: EXT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EXT2 were set to Exostoses, multiple, type 2
Genomic newborn screening: BabyScreen+ v0.0 EXT1 Zornitza Stark gene: EXT1 was added
gene: EXT1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: EXT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EXT1 were set to Exostoses, multiple, type 1
Genomic newborn screening: BabyScreen+ v0.0 EVC2 Zornitza Stark gene: EVC2 was added
gene: EVC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: EVC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EVC2 were set to Ellis-van Creveld syndrome
Genomic newborn screening: BabyScreen+ v0.0 EVC Zornitza Stark gene: EVC was added
gene: EVC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: EVC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EVC were set to Ellis-van Creveld syndrome
Genomic newborn screening: BabyScreen+ v0.0 ETHE1 Zornitza Stark gene: ETHE1 was added
gene: ETHE1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ETHE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETHE1 were set to Ethylmalonic encephalopathy, MIM#602473
Genomic newborn screening: BabyScreen+ v0.0 ETFDH Zornitza Stark gene: ETFDH was added
gene: ETFDH was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFDH were set to Glutaric acidemia IIC, MIM#231680
Genomic newborn screening: BabyScreen+ v0.0 ETFB Zornitza Stark gene: ETFB was added
gene: ETFB was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFB were set to Glutaric acidemia IIB, MIM#231680
Genomic newborn screening: BabyScreen+ v0.0 ETFA Zornitza Stark gene: ETFA was added
gene: ETFA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFA were set to Glutaric acidaemia IIA, MIM#231680
Genomic newborn screening: BabyScreen+ v0.0 ESRRB Zornitza Stark gene: ESRRB was added
gene: ESRRB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ESRRB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ESRRB were set to Hearing loss
Genomic newborn screening: BabyScreen+ v0.0 ESPN Zornitza Stark gene: ESPN was added
gene: ESPN was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: ESPN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ESPN were set to 26445815; 28281779; 10975527; 18973245; 15930085; 15286153
Phenotypes for gene: ESPN were set to Deafness, autosomal recessive 36, MIM# 609006
Genomic newborn screening: BabyScreen+ v0.0 ESCO2 Zornitza Stark gene: ESCO2 was added
gene: ESCO2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ESCO2 were set to Roberts syndrome
Genomic newborn screening: BabyScreen+ v0.0 ERCC8 Zornitza Stark gene: ERCC8 was added
gene: ERCC8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC8 were set to Cockayne syndrome
Genomic newborn screening: BabyScreen+ v0.0 ERCC6 Zornitza Stark gene: ERCC6 was added
gene: ERCC6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC6 were set to Cockayne syndrome
Genomic newborn screening: BabyScreen+ v0.0 ERCC5 Zornitza Stark gene: ERCC5 was added
gene: ERCC5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC5 were set to Xeroderma pigmentosum
Genomic newborn screening: BabyScreen+ v0.0 ERCC4 Zornitza Stark gene: ERCC4 was added
gene: ERCC4 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC4 were set to Xeroderma pigmentosum, group F, MIM# 278760; Fanconi anaemia, complementation group Q, MIM# 615272
Genomic newborn screening: BabyScreen+ v0.0 ERCC2 Zornitza Stark gene: ERCC2 was added
gene: ERCC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC2 were set to Xeroderma pigmentosum
Genomic newborn screening: BabyScreen+ v0.0 EPS8L2 Zornitza Stark gene: EPS8L2 was added
gene: EPS8L2 was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: EPS8L2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EPS8L2 were set to Deafness, MIM#617637
Genomic newborn screening: BabyScreen+ v0.0 EPS8 Zornitza Stark gene: EPS8 was added
gene: EPS8 was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: EPS8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EPS8 were set to deafness MIM#600205
Genomic newborn screening: BabyScreen+ v0.0 EPM2A Zornitza Stark gene: EPM2A was added
gene: EPM2A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: EPM2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EPM2A were set to Epilepsy, progressive myoclonic 2A (Lafora)
Genomic newborn screening: BabyScreen+ v0.0 ENPP1 Zornitza Stark gene: ENPP1 was added
gene: ENPP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ENPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ENPP1 were set to Arterial calcification, generalized, of infancy, 1
Genomic newborn screening: BabyScreen+ v0.0 ENG Zornitza Stark gene: ENG was added
gene: ENG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1
Genomic newborn screening: BabyScreen+ v0.0 EMD Zornitza Stark gene: EMD was added
gene: EMD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: EMD were set to Muscular dystrophy, Emery-Dreifuss
Genomic newborn screening: BabyScreen+ v0.0 ELP1 Zornitza Stark gene: ELP1 was added
gene: ELP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ELP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ELP1 were set to Dysautonomia, familial
Genomic newborn screening: BabyScreen+ v0.0 ELN Zornitza Stark gene: ELN was added
gene: ELN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ELN were set to Supravalvar aortic stenosis
Genomic newborn screening: BabyScreen+ v0.0 ELANE Zornitza Stark gene: ELANE was added
gene: ELANE was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ELANE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ELANE were set to Neutropenia, congenital, MIM#202700
Genomic newborn screening: BabyScreen+ v0.0 EIF2AK3 Zornitza Stark gene: EIF2AK3 was added
gene: EIF2AK3 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: EIF2AK3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2AK3 were set to Wolcott-Rallison syndrome, MIM#226980
Genomic newborn screening: BabyScreen+ v0.0 EGR2 Zornitza Stark gene: EGR2 was added
gene: EGR2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: EGR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EGR2 were set to Charcot-Marie-Tooth disease
Genomic newborn screening: BabyScreen+ v0.0 EFTUD2 Zornitza Stark gene: EFTUD2 was added
gene: EFTUD2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: EFTUD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EFTUD2 were set to Mandibulofacial dysostosis with microcephaly
Genomic newborn screening: BabyScreen+ v0.0 EFL1 Zornitza Stark gene: EFL1 was added
gene: EFL1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: EFL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EFL1 were set to Shwachman-Diamond syndrome 2, MIM# 617941
Genomic newborn screening: BabyScreen+ v0.0 EDNRB Zornitza Stark gene: EDNRB was added
gene: EDNRB was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: EDNRB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: EDNRB were set to Waardenburg syndrome, type 4A, MIM# 277580
Genomic newborn screening: BabyScreen+ v0.0 EDN3 Zornitza Stark gene: EDN3 was added
gene: EDN3 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: EDN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EDN3 were set to Waardenburg syndrome
Genomic newborn screening: BabyScreen+ v0.0 EDARADD Zornitza Stark gene: EDARADD was added
gene: EDARADD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: EDARADD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EDARADD were set to Ectodermal dysplasia, hypohidrotic
Genomic newborn screening: BabyScreen+ v0.0 EDAR Zornitza Stark gene: EDAR was added
gene: EDAR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: EDAR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EDAR were set to Ectodermal dysplasia, hypohidrotic
Genomic newborn screening: BabyScreen+ v0.0 EDA Zornitza Stark gene: EDA was added
gene: EDA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: EDA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: EDA were set to Ectodermal dysplasia, hypohidrotic
Genomic newborn screening: BabyScreen+ v0.0 DYSF Zornitza Stark gene: DYSF was added
gene: DYSF was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DYSF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYSF were set to Miyoshi muscular dystrophy 1; Muscular dystrophy, limb-girdle, type 2B
Genomic newborn screening: BabyScreen+ v0.0 DUOXA2 Zornitza Stark gene: DUOXA2 was added
gene: DUOXA2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: DUOXA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DUOXA2 were set to Thyroid dyshormonogenesis 5, MIM# 274900
Genomic newborn screening: BabyScreen+ v0.0 DUOX2 Zornitza Stark gene: DUOX2 was added
gene: DUOX2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DUOX2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DUOX2 were set to Thyroid dyshormonogenesis
Genomic newborn screening: BabyScreen+ v0.0 DSP Zornitza Stark gene: DSP was added
gene: DSP was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: DSP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: DSP were set to Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis , MIM#615821
Genomic newborn screening: BabyScreen+ v0.0 DPAGT1 Zornitza Stark gene: DPAGT1 was added
gene: DPAGT1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DPAGT1 were set to Congenital disorder of glycosylation, type Ij, MIM#614750
Genomic newborn screening: BabyScreen+ v0.0 DOLK Zornitza Stark gene: DOLK was added
gene: DOLK was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DOLK were set to 30653653; 22242004; 23890587; 17273964; 28816422; 24144945
Phenotypes for gene: DOLK were set to Congenital disorder of glycosylation, type Im, MIM# 610768; DK1-CDG, MONDO:0012556
Genomic newborn screening: BabyScreen+ v0.0 DOK7 Zornitza Stark gene: DOK7 was added
gene: DOK7 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOK7 were set to Congenital myasthenic syndrome, MIM# 254300
Genomic newborn screening: BabyScreen+ v0.0 DOCK8 Zornitza Stark gene: DOCK8 was added
gene: DOCK8 was added to gNBS. Sources: Expert Review Green,BabySeq Category A gene,BegniNGS
Mode of inheritance for gene: DOCK8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOCK8 were set to Hyper-IgE syndrome, MIM#243700
Genomic newborn screening: BabyScreen+ v0.0 DNMT3B Zornitza Stark gene: DNMT3B was added
gene: DNMT3B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DNMT3B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNMT3B were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 1
Genomic newborn screening: BabyScreen+ v0.0 DNM2 Zornitza Stark gene: DNM2 was added
gene: DNM2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DNM2 were set to Charcot-Marie-Tooth disease, axonal, type 2M; Myopathy, centronuclear
Genomic newborn screening: BabyScreen+ v0.0 DNAJB6 Zornitza Stark gene: DNAJB6 was added
gene: DNAJB6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DNAJB6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DNAJB6 were set to Muscular dystrophy, limb girdle
Genomic newborn screening: BabyScreen+ v0.0 DNAI1 Zornitza Stark gene: DNAI1 was added
gene: DNAI1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DNAI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAI1 were set to Primary ciliary dyskinesia
Genomic newborn screening: BabyScreen+ v0.0 DNAH5 Zornitza Stark gene: DNAH5 was added
gene: DNAH5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DNAH5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAH5 were set to Primary ciliary dyskinesia
Genomic newborn screening: BabyScreen+ v0.0 DNAH11 Zornitza Stark gene: DNAH11 was added
gene: DNAH11 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DNAH11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAH11 were set to Primary ciliary dyskinesia
Genomic newborn screening: BabyScreen+ v0.0 DNAAF1 Zornitza Stark gene: DNAAF1 was added
gene: DNAAF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DNAAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF1 were set to Primary ciliary dyskinesia
Genomic newborn screening: BabyScreen+ v0.0 DMXL2 Zornitza Stark gene: DMXL2 was added
gene: DMXL2 was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: DMXL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DMXL2 were set to Developmental and epileptic encephalopathy 81, MIM#618663
Genomic newborn screening: BabyScreen+ v0.0 DMPK Zornitza Stark gene: DMPK was added
gene: DMPK was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DMPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DMPK were set to Myotonic dystrophy 1
Genomic newborn screening: BabyScreen+ v0.0 DMP1 Zornitza Stark gene: DMP1 was added
gene: DMP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DMP1 were set to Hypophosphatemic rickets, AR
Genomic newborn screening: BabyScreen+ v0.0 DMD Zornitza Stark gene: DMD was added
gene: DMD was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DMD were set to Duchenne muscular dystrophy, MIM# 310200
Genomic newborn screening: BabyScreen+ v0.0 DLL3 Zornitza Stark gene: DLL3 was added
gene: DLL3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DLL3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DLL3 were set to Spondylocostal dysostosis, autosomal recessive, 1
Genomic newborn screening: BabyScreen+ v0.0 DLD Zornitza Stark gene: DLD was added
gene: DLD was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DLD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DLD were set to Maple syrup urine disease, type III, MIM#246900
Genomic newborn screening: BabyScreen+ v0.0 DKC1 Zornitza Stark gene: DKC1 was added
gene: DKC1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DKC1 were set to Dyskeratosis congenita, X-linked, MIM# 305000
Genomic newborn screening: BabyScreen+ v0.0 DIAPH1 Zornitza Stark gene: DIAPH1 was added
gene: DIAPH1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: DIAPH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DIAPH1 were set to Deafness, autosomal dominant 1, with or without thrombocytopenia MIM#124900
Genomic newborn screening: BabyScreen+ v0.0 DHCR7 Zornitza Stark gene: DHCR7 was added
gene: DHCR7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome
Genomic newborn screening: BabyScreen+ v0.0 DGUOK Zornitza Stark gene: DGUOK was added
gene: DGUOK was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome
Genomic newborn screening: BabyScreen+ v0.0 DGAT1 Zornitza Stark gene: DGAT1 was added
gene: DGAT1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: DGAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DGAT1 were set to Diarrhea 7, protein-losing enteropathy type , MIM# 615863
Genomic newborn screening: BabyScreen+ v0.0 DFNB59 Zornitza Stark gene: DFNB59 was added
gene: DFNB59 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DFNB59 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DFNB59 were set to Hearing loss
Genomic newborn screening: BabyScreen+ v0.0 DFNA5 Zornitza Stark gene: DFNA5 was added
gene: DFNA5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DFNA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DFNA5 were set to Hearing loss
Genomic newborn screening: BabyScreen+ v0.0 DDC Zornitza Stark gene: DDC was added
gene: DDC was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDC were set to Aromatic L-amino acid decarboxylase deficiency, MIM#608643
Genomic newborn screening: BabyScreen+ v0.0 DDB2 Zornitza Stark gene: DDB2 was added
gene: DDB2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DDB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDB2 were set to Xeroderma pigmentosum
Genomic newborn screening: BabyScreen+ v0.0 DCX Zornitza Stark gene: DCX was added
gene: DCX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: DCX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DCX were set to Lissencephaly, X-linked, MIM# 300067
Genomic newborn screening: BabyScreen+ v0.0 DCLRE1C Zornitza Stark gene: DCLRE1C was added
gene: DCLRE1C was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DCLRE1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCLRE1C were set to Severe combined immunodeficiency, Athabascan type, MIM#603554
Genomic newborn screening: BabyScreen+ v0.0 DBT Zornitza Stark gene: DBT was added
gene: DBT was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DBT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DBT were set to Maple syrup urine disease, MIM#248600
Genomic newborn screening: BabyScreen+ v0.0 D2HGDH Zornitza Stark gene: D2HGDH was added
gene: D2HGDH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: D2HGDH were set to D-2-hydroxyglutaric aciduria
Genomic newborn screening: BabyScreen+ v0.0 CYP4F22 Zornitza Stark gene: CYP4F22 was added
gene: CYP4F22 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CYP4F22 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP4F22 were set to Ichthyosis, congenital, autosomal recessive
Genomic newborn screening: BabyScreen+ v0.0 CYP27B1 Zornitza Stark gene: CYP27B1 was added
gene: CYP27B1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CYP27B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP27B1 were set to Vitamin D-dependent rickets, type I
Genomic newborn screening: BabyScreen+ v0.0 CYP27A1 Zornitza Stark gene: CYP27A1 was added
gene: CYP27A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis
Genomic newborn screening: BabyScreen+ v0.0 CYP21A2 Zornitza Stark gene: CYP21A2 was added
gene: CYP21A2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CYP21A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP21A2 were set to Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, MIM#201910
Genomic newborn screening: BabyScreen+ v0.0 CYP17A1 Zornitza Stark gene: CYP17A1 was added
gene: CYP17A1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: CYP17A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP17A1 were set to 17,20-lyase deficiency, isolated , MIM#202110
Genomic newborn screening: BabyScreen+ v0.0 CYP11B2 Zornitza Stark gene: CYP11B2 was added
gene: CYP11B2 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: CYP11B2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP11B2 were set to Hypoaldosteronism, congenital, due to CMO I deficiency, MIM# 203400; Hypoaldosteronism, congenital, due to CMO II deficiency, MIM# 610600
Genomic newborn screening: BabyScreen+ v0.0 CYP11B1 Zornitza Stark gene: CYP11B1 was added
gene: CYP11B1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CYP11B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP11B1 were set to Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM#202010
Genomic newborn screening: BabyScreen+ v0.0 CYP11A1 Zornitza Stark gene: CYP11A1 was added
gene: CYP11A1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CYP11A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP11A1 were set to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM#613743
Genomic newborn screening: BabyScreen+ v0.0 CYBB Zornitza Stark gene: CYBB was added
gene: CYBB was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CYBB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CYBB were set to Chronic granulomatous disease, MIM#306400
Genomic newborn screening: BabyScreen+ v0.0 CYBA Zornitza Stark gene: CYBA was added
gene: CYBA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CYBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYBA were set to Chronic granulomatous disease, MIM#233690
Genomic newborn screening: BabyScreen+ v0.0 CXCR4 Zornitza Stark gene: CXCR4 was added
gene: CXCR4 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: CXCR4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CXCR4 were set to WHIM syndrome 1, MIM# 193670
Genomic newborn screening: BabyScreen+ v0.0 CUL7 Zornitza Stark gene: CUL7 was added
gene: CUL7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CUL7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CUL7 were set to 3-M syndrome
Genomic newborn screening: BabyScreen+ v0.0 CUBN Zornitza Stark gene: CUBN was added
gene: CUBN was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CUBN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CUBN were set to Megaloblastic anaemia-1, Finnish type, MIM#261100
Genomic newborn screening: BabyScreen+ v0.0 CTSK Zornitza Stark gene: CTSK was added
gene: CTSK was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSK were set to Pycnodysostosis
Genomic newborn screening: BabyScreen+ v0.0 CTSD Zornitza Stark gene: CTSD was added
gene: CTSD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CTSD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSD were set to Ceroid lipofuscinosis, neuronal, 10
Genomic newborn screening: BabyScreen+ v0.0 CTPS1 Zornitza Stark gene: CTPS1 was added
gene: CTPS1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: CTPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTPS1 were set to Immunodeficiency 24, MIM# 615897
Genomic newborn screening: BabyScreen+ v0.0 CTNS Zornitza Stark gene: CTNS was added
gene: CTNS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTNS were set to Cystinosis
Genomic newborn screening: BabyScreen+ v0.0 CTC1 Zornitza Stark gene: CTC1 was added
gene: CTC1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTC1 were set to Coats plus syndrome
Genomic newborn screening: BabyScreen+ v0.0 CSTB Zornitza Stark gene: CSTB was added
gene: CSTB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CSTB were set to Epilepsy, progressive myoclonic 1A
Genomic newborn screening: BabyScreen+ v0.0 CSF3R Zornitza Stark gene: CSF3R was added
gene: CSF3R was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: CSF3R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CSF3R were set to Neutropenia, severe congenital, 7, autosomal recessive , MIM#617014; Neutrophilia, hereditary , MIM# 162830
Genomic newborn screening: BabyScreen+ v0.0 CSF2RA Zornitza Stark gene: CSF2RA was added
gene: CSF2RA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CSF2RA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSF2RA were set to 25425184; 18955570; 20622029
Phenotypes for gene: CSF2RA were set to Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770
Genomic newborn screening: BabyScreen+ v0.0 CRTAP Zornitza Stark gene: CRTAP was added
gene: CRTAP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CRTAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRTAP were set to Osteogenesis imperfecta, type VII
Genomic newborn screening: BabyScreen+ v0.0 CRLF1 Zornitza Stark gene: CRLF1 was added
gene: CRLF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CRLF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRLF1 were set to Crisponi syndrome
Genomic newborn screening: BabyScreen+ v0.0 CREBBP Zornitza Stark gene: CREBBP was added
gene: CREBBP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CREBBP were set to Rubinstein-Taybi syndrome
Genomic newborn screening: BabyScreen+ v0.0 CPT2 Zornitza Stark gene: CPT2 was added
gene: CPT2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPT2 were set to Carnitine palmitoyltransferase 2 deficiency
Genomic newborn screening: BabyScreen+ v0.0 CPT1A Zornitza Stark gene: CPT1A was added
gene: CPT1A was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CPT1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPT1A were set to Carnitine palmitoyltransferase I deficiency, MIM#255120
Genomic newborn screening: BabyScreen+ v0.0 CPS1 Zornitza Stark gene: CPS1 was added
gene: CPS1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPS1 were set to Carbamoylphosphate synthetase I deficiency, MIM#237300
Genomic newborn screening: BabyScreen+ v0.0 CPOX Zornitza Stark gene: CPOX was added
gene: CPOX was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: CPOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CPOX were set to Coproporphyria , MIM#121300
Genomic newborn screening: BabyScreen+ v0.0 COQ9 Zornitza Stark gene: COQ9 was added
gene: COQ9 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: COQ9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ9 were set to Coenzyme Q10 deficiency, primary, 5 , MIM#614654
Genomic newborn screening: BabyScreen+ v0.0 COQ8B Zornitza Stark gene: COQ8B was added
gene: COQ8B was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: COQ8B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ8B were set to Nephrotic syndrome, type 9, MIM# 615573
Genomic newborn screening: BabyScreen+ v0.0 COQ8A Zornitza Stark gene: COQ8A was added
gene: COQ8A was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, primary, 4, MIM# 612016
Genomic newborn screening: BabyScreen+ v0.0 COQ7 Zornitza Stark gene: COQ7 was added
gene: COQ7 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ7 were set to Coenzyme Q10 deficiency, primary, 8, MIM# 616733
Genomic newborn screening: BabyScreen+ v0.0 COQ6 Zornitza Stark gene: COQ6 was added
gene: COQ6 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: COQ6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ6 were set to Coenzyme Q10 deficiency, primary, 6, MIM# 614650
Genomic newborn screening: BabyScreen+ v0.0 COQ4 Zornitza Stark gene: COQ4 was added
gene: COQ4 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ4 were set to Coenzyme Q10 deficiency, primary, 7, MIM# 616276
Genomic newborn screening: BabyScreen+ v0.0 COQ2 Zornitza Stark gene: COQ2 was added
gene: COQ2 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ2 were set to Coenzyme Q10 deficiency, primary, 1, MIM# 607426
Genomic newborn screening: BabyScreen+ v0.0 COLQ Zornitza Stark gene: COLQ was added
gene: COLQ was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: COLQ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COLQ were set to Congenital myasthenic syndrome, MIM#603034
Genomic newborn screening: BabyScreen+ v0.0 COL9A3 Zornitza Stark gene: COL9A3 was added
gene: COL9A3 was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: COL9A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL9A3 were set to Stickler syndrome
Genomic newborn screening: BabyScreen+ v0.0 COL9A2 Zornitza Stark gene: COL9A2 was added
gene: COL9A2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: COL9A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL9A2 were set to Stickler syndrome, type V, MIM# 614284
Genomic newborn screening: BabyScreen+ v0.0 COL9A1 Zornitza Stark gene: COL9A1 was added
gene: COL9A1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: COL9A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL9A1 were set to Stickler syndrome, type IV, MIM#614134
Genomic newborn screening: BabyScreen+ v0.0 COL7A1 Zornitza Stark gene: COL7A1 was added
gene: COL7A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: COL7A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL7A1 were set to Epidermolysis bullosa dystrophica
Genomic newborn screening: BabyScreen+ v0.0 COL6A3 Zornitza Stark gene: COL6A3 was added
gene: COL6A3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL6A3 were set to Ullrich congenital muscular dystrophy
Genomic newborn screening: BabyScreen+ v0.0 COL6A2 Zornitza Stark gene: COL6A2 was added
gene: COL6A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: COL6A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL6A2 were set to Ullrich congenital muscular dystrophy
Genomic newborn screening: BabyScreen+ v0.0 COL6A1 Zornitza Stark gene: COL6A1 was added
gene: COL6A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: COL6A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL6A1 were set to Ullrich congenital muscular dystrophy
Genomic newborn screening: BabyScreen+ v0.0 COL5A2 Zornitza Stark gene: COL5A2 was added
gene: COL5A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: COL5A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL5A2 were set to Ehlers-Danlos syndrome
Genomic newborn screening: BabyScreen+ v0.0 COL5A1 Zornitza Stark gene: COL5A1 was added
gene: COL5A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: COL5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL5A1 were set to Ehlers-Danlos syndrome, type I
Genomic newborn screening: BabyScreen+ v0.0 COL4A5 Zornitza Stark gene: COL4A5 was added
gene: COL4A5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: COL4A5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: COL4A5 were set to Alport syndrome
Genomic newborn screening: BabyScreen+ v0.0 COL4A4 Zornitza Stark gene: COL4A4 was added
gene: COL4A4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: COL4A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL4A4 were set to Alport syndrome
Genomic newborn screening: BabyScreen+ v0.0 COL4A3 Zornitza Stark gene: COL4A3 was added
gene: COL4A3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: COL4A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL4A3 were set to Alport syndrome
Genomic newborn screening: BabyScreen+ v0.0 COL3A1 Zornitza Stark gene: COL3A1 was added
gene: COL3A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: COL3A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL3A1 were set to Ehlers-Danlos syndrome, type IV
Genomic newborn screening: BabyScreen+ v0.0 COL2A1 Zornitza Stark gene: COL2A1 was added
gene: COL2A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: COL2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL2A1 were set to Stickler syndrome
Genomic newborn screening: BabyScreen+ v0.0 COL1A2 Zornitza Stark gene: COL1A2 was added
gene: COL1A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: COL1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL1A2 were set to Osteogenesis imperfecta, type II
Genomic newborn screening: BabyScreen+ v0.0 COL1A1 Zornitza Stark gene: COL1A1 was added
gene: COL1A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL1A1 were set to Osteogenesis imperfecta, type I
Genomic newborn screening: BabyScreen+ v0.0 COL17A1 Zornitza Stark gene: COL17A1 was added
gene: COL17A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: COL17A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL17A1 were set to Epidermolysis bullosa, junctional, non-Herlitz type
Genomic newborn screening: BabyScreen+ v0.0 COL13A1 Zornitza Stark gene: COL13A1 was added
gene: COL13A1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: COL13A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL13A1 were set to Myasthenic syndrome, congenital, 19, MIM# 616720
Genomic newborn screening: BabyScreen+ v0.0 COL11A2 Zornitza Stark gene: COL11A2 was added
gene: COL11A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: COL11A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL11A2 were set to Otospondylomegaepiphyseal dysplasia
Genomic newborn screening: BabyScreen+ v0.0 COL11A1 Zornitza Stark gene: COL11A1 was added
gene: COL11A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: COL11A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL11A1 were set to Stickler syndrome
Genomic newborn screening: BabyScreen+ v0.0 COG5 Zornitza Stark gene: COG5 was added
gene: COG5 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: COG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COG5 were set to 32174980; 23228021; 31572517
Phenotypes for gene: COG5 were set to Congenital disorder of glycosylation, type IIi
Genomic newborn screening: BabyScreen+ v0.0 COCH Zornitza Stark gene: COCH was added
gene: COCH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: COCH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COCH were set to 21046548; 26256111; 9806553; 16151338; 28099493; 22931125; 18312449; 28116169; 28733840; 17561763; 18697796; 32562050; 29449721; 32939038; 22610276
Phenotypes for gene: COCH were set to Deafness, autosomal dominant 9, MIM# 601369; Deafness, autosomal recessive 110, MIM# 618094
Genomic newborn screening: BabyScreen+ v0.0 CNGB3 Zornitza Stark gene: CNGB3 was added
gene: CNGB3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CNGB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNGB3 were set to Achromatopsia-3
Genomic newborn screening: BabyScreen+ v0.0 CLRN1 Zornitza Stark gene: CLRN1 was added
gene: CLRN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CLRN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLRN1 were set to Usher syndrome, type 3A
Genomic newborn screening: BabyScreen+ v0.0 CLPP Zornitza Stark gene: CLPP was added
gene: CLPP was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLPP were set to 25254289; 27087618; 27899912; 23541340
Phenotypes for gene: CLPP were set to Perrault syndrome 3, MIM# 614129
Genomic newborn screening: BabyScreen+ v0.0 CLN8 Zornitza Stark gene: CLN8 was added
gene: CLN8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CLN8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN8 were set to Ceroid lipofuscinosis, neuronal, 8
Genomic newborn screening: BabyScreen+ v0.0 CLN6 Zornitza Stark gene: CLN6 was added
gene: CLN6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN6 were set to Ceroid lipofuscinosis, neuronal, 6
Genomic newborn screening: BabyScreen+ v0.0 CLN5 Zornitza Stark gene: CLN5 was added
gene: CLN5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN5 were set to Ceroid lipofuscinosis, neuronal, 5
Genomic newborn screening: BabyScreen+ v0.0 CLN3 Zornitza Stark gene: CLN3 was added
gene: CLN3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN3 were set to Ceroid lipofuscinosis, neuronal, 3
Genomic newborn screening: BabyScreen+ v0.0 CLDN19 Zornitza Stark gene: CLDN19 was added
gene: CLDN19 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLDN19 were set to Hypomagnesemia 5, renal, with ocular involvement
Genomic newborn screening: BabyScreen+ v0.0 CLDN14 Zornitza Stark gene: CLDN14 was added
gene: CLDN14 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CLDN14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLDN14 were set to Hearing loss, non-syndromic, autosomal recessive
Genomic newborn screening: BabyScreen+ v0.0 CLCN7 Zornitza Stark gene: CLCN7 was added
gene: CLCN7 was added to gNBS. Sources: BeginNGS,Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: CLCN7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLCN7 were set to Osteopetrosis, autosomal recessive 4, MIM# 611490
Genomic newborn screening: BabyScreen+ v0.0 CLCN5 Zornitza Stark gene: CLCN5 was added
gene: CLCN5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CLCN5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CLCN5 were set to Dent disease
Genomic newborn screening: BabyScreen+ v0.0 CIB2 Zornitza Stark gene: CIB2 was added
gene: CIB2 was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: CIB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CIB2 were set to 27344577; 26473954; 26445815; 23023331; 26173970; 26226137
Phenotypes for gene: CIB2 were set to Deafness, autosomal recessive 48, MIM# 609439
Genomic newborn screening: BabyScreen+ v0.0 CHRNG Zornitza Stark gene: CHRNG was added
gene: CHRNG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CHRNG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNG were set to Pterygium syndrome
Genomic newborn screening: BabyScreen+ v0.0 CHRNE Zornitza Stark gene: CHRNE was added
gene: CHRNE was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CHRNE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNE were set to Congenital myasthenic syndrome, MIM#605809
Genomic newborn screening: BabyScreen+ v0.0 CHRND Zornitza Stark gene: CHRND was added
gene: CHRND was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CHRND was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRND were set to Congenital myasthenic syndrome, MIM#616321
Genomic newborn screening: BabyScreen+ v0.0 CHRNB1 Zornitza Stark gene: CHRNB1 was added
gene: CHRNB1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: CHRNB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNB1 were set to Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, MIM# 616314
Genomic newborn screening: BabyScreen+ v0.0 CHRNA1 Zornitza Stark gene: CHRNA1 was added
gene: CHRNA1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CHRNA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNA1 were set to Congenital myasthenic syndrome, MIM#601462
Genomic newborn screening: BabyScreen+ v0.0 CHM Zornitza Stark gene: CHM was added
gene: CHM was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CHM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CHM were set to Choroideremia
Genomic newborn screening: BabyScreen+ v0.0 CHKB Zornitza Stark gene: CHKB was added
gene: CHKB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHKB were set to Muscular dystrophy, congenital, megaconial type
Genomic newborn screening: BabyScreen+ v0.0 CHD7 Zornitza Stark gene: CHD7 was added
gene: CHD7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CHD7 were set to CHARGE syndrome
Genomic newborn screening: BabyScreen+ v0.0 CHD2 Zornitza Stark gene: CHD2 was added
gene: CHD2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CHD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CHD2 were set to Developmental delay, intellectual disability, epilepsy
Genomic newborn screening: BabyScreen+ v0.0 CHAT Zornitza Stark gene: CHAT was added
gene: CHAT was added to gNBS. Sources: BeginNGS:BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CHAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHAT were set to Congenital myasthenic syndrome, MIM#254210
Genomic newborn screening: BabyScreen+ v0.0 CFTR Zornitza Stark gene: CFTR was added
gene: CFTR was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFTR were set to Cystic fibrosis, MIM#219700
Genomic newborn screening: BabyScreen+ v0.0 CFP Zornitza Stark gene: CFP was added
gene: CFP was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CFP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CFP were set to Properdin deficiency, X-linked, MIM#312060
Genomic newborn screening: BabyScreen+ v0.0 CFD Zornitza Stark gene: CFD was added
gene: CFD was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: CFD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFD were set to Complement factor D deficiency, MIM# 613912
Genomic newborn screening: BabyScreen+ v0.0 CFB Zornitza Stark gene: CFB was added
gene: CFB was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: CFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CFB were set to Haemolytic uremic syndrome, atypical, susceptibility to, 4}, MIM# 612924
Genomic newborn screening: BabyScreen+ v0.0 CFL2 Zornitza Stark gene: CFL2 was added
gene: CFL2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CFL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFL2 were set to Nemaline myopathy
Genomic newborn screening: BabyScreen+ v0.0 CFC1 Zornitza Stark gene: CFC1 was added
gene: CFC1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CFC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CFC1 were set to Congenital heart defects
Genomic newborn screening: BabyScreen+ v0.0 CEP83 Zornitza Stark gene: CEP83 was added
gene: CEP83 was added to gNBS. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP83 were set to 33938610; 24882706
Phenotypes for gene: CEP83 were set to Nephronophthisis 18, MIM# 615862; ID; MONDO:0014374; Retinal dystrophy
Genomic newborn screening: BabyScreen+ v0.0 CEP78 Zornitza Stark gene: CEP78 was added
gene: CEP78 was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: CEP78 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP78 were set to Cone-rod dystrophy and hearing loss
Genomic newborn screening: BabyScreen+ v0.0 CEP290 Zornitza Stark gene: CEP290 was added
gene: CEP290 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP290 were set to Joubert syndrome
Genomic newborn screening: BabyScreen+ v0.0 CEP152 Zornitza Stark gene: CEP152 was added
gene: CEP152 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CEP152 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP152 were set to Seckel syndrome
Genomic newborn screening: BabyScreen+ v0.0 CDT1 Zornitza Stark gene: CDT1 was added
gene: CDT1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: CDT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDT1 were set to 22333897; 21358632; 21358631; 33338304
Phenotypes for gene: CDT1 were set to Meier-Gorlin syndrome 4, MIM# 613804; MONDO:0013431
Genomic newborn screening: BabyScreen+ v0.0 CDSN Zornitza Stark gene: CDSN was added
gene: CDSN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CDSN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CDSN were set to Hypotrichosis
Genomic newborn screening: BabyScreen+ v0.0 CDKN1C Zornitza Stark gene: CDKN1C was added
gene: CDKN1C was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CDKN1C were set to Beckwith-Wiedemann syndrome, MIM#130650
Genomic newborn screening: BabyScreen+ v0.0 CDKL5 Zornitza Stark gene: CDKL5 was added
gene: CDKL5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CDKL5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CDKL5 were set to Epileptic encephalopathy, early infantile, 2
Genomic newborn screening: BabyScreen+ v0.0 CDK5RAP2 Zornitza Stark gene: CDK5RAP2 was added
gene: CDK5RAP2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: CDK5RAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDK5RAP2 were set to Microcephaly 3, primary, autosomal recessive, MIM# 604804; MONDO:0011488
Genomic newborn screening: BabyScreen+ v0.0 CDH23 Zornitza Stark gene: CDH23 was added
gene: CDH23 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CDH23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDH23 were set to Deafness, autosomal recessive; Usher syndrome, type 1D
Genomic newborn screening: BabyScreen+ v0.0 CDC14A Zornitza Stark gene: CDC14A was added
gene: CDC14A was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: CDC14A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDC14A were set to Deafness, autosomal recessive 32, with or without immotile sperm, MIM# 608653
Genomic newborn screening: BabyScreen+ v0.0 CDAN1 Zornitza Stark gene: CDAN1 was added
gene: CDAN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CDAN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDAN1 were set to Anemia, congenital dyserythropoietic, type I
Genomic newborn screening: BabyScreen+ v0.0 CD79B Zornitza Stark gene: CD79B was added
gene: CD79B was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: CD79B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD79B were set to Agammaglobulinaemia 6, MIM# 612692
Genomic newborn screening: BabyScreen+ v0.0 CD79A Zornitza Stark gene: CD79A was added
gene: CD79A was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: CD79A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD79A were set to Agammaglobulinaemia 3, MIM# 613501
Genomic newborn screening: BabyScreen+ v0.0 CD40LG Zornitza Stark gene: CD40LG was added
gene: CD40LG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CD40LG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CD40LG were set to Immunodeficiency, X-linked, with hyper-IgM
Genomic newborn screening: BabyScreen+ v0.0 CD3E Zornitza Stark gene: CD3E was added
gene: CD3E was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: CD3E was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD3E were set to Immunodeficiency 18, MIM# 615615
Genomic newborn screening: BabyScreen+ v0.0 CD3D Zornitza Stark gene: CD3D was added
gene: CD3D was added to gNBS. Sources: Expert list,BeginNGS,Expert Review Green
Mode of inheritance for gene: CD3D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD3D were set to Immunodeficiency 19, MIM# 615617
Genomic newborn screening: BabyScreen+ v0.0 CCDC40 Zornitza Stark gene: CCDC40 was added
gene: CCDC40 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CCDC40 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC40 were set to Primary ciliary dyskinesia
Genomic newborn screening: BabyScreen+ v0.0 CCDC39 Zornitza Stark gene: CCDC39 was added
gene: CCDC39 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CCDC39 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC39 were set to Primary ciliary dyskinesia
Genomic newborn screening: BabyScreen+ v0.0 CC2D2A Zornitza Stark gene: CC2D2A was added
gene: CC2D2A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CC2D2A were set to Joubert syndrome
Genomic newborn screening: BabyScreen+ v0.0 CBS Zornitza Stark gene: CBS was added
gene: CBS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CBS were set to Homocystinuria, B6-responsive and nonresponsive types
Genomic newborn screening: BabyScreen+ v0.0 GIF Zornitza Stark gene: GIF was added
gene: GIF was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: GIF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GIF were set to Intrinsic factor deficiency, MIM# 261000
Genomic newborn screening: BabyScreen+ v0.0 CBL Zornitza Stark gene: CBL was added
gene: CBL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CBL were set to Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia
Genomic newborn screening: BabyScreen+ v0.0 CAVIN1 Zornitza Stark gene: CAVIN1 was added
gene: CAVIN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CAVIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CAVIN1 were set to Lipodystrophy, congenital generalized, type 4
Genomic newborn screening: BabyScreen+ v0.0 CAV3 Zornitza Stark gene: CAV3 was added
gene: CAV3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: CAV3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CAV3 were set to Caveolinopathy; Muscular dystrophy, limb-girdle, type IC
Genomic newborn screening: BabyScreen+ v0.0 CASR Zornitza Stark gene: CASR was added
gene: CASR was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: CASR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CASR were set to Hyperparathyroidism, neonatal, MIM# 239200
Genomic newborn screening: BabyScreen+ v0.0 CASQ2 Zornitza Stark gene: CASQ2 was added
gene: CASQ2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CASQ2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CASQ2 were set to Ventricular tachycardia, catecholaminergic polymorphic
Genomic newborn screening: BabyScreen+ v0.0 CASK Zornitza Stark gene: CASK was added
gene: CASK was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CASK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CASK were set to Mental retardation and microcephaly with pontine and cerebellar hypoplasia
Genomic newborn screening: BabyScreen+ v0.0 CARD11 Zornitza Stark gene: CARD11 was added
gene: CARD11 was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: CARD11 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CARD11 were set to 23374270; 28628108; 23561803; 12818158
Phenotypes for gene: CARD11 were set to Immunodeficiency 11A, MIM# 615206
Genomic newborn screening: BabyScreen+ v0.0 CAPN3 Zornitza Stark gene: CAPN3 was added
gene: CAPN3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CAPN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CAPN3 were set to Muscular dystrophy, limb-girdle, type 2A
Genomic newborn screening: BabyScreen+ v0.0 CACNA1F Zornitza Stark gene: CACNA1F was added
gene: CACNA1F was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CACNA1F was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CACNA1F were set to Night blindness, congenital stationary (complete), 1A, X-linked
Genomic newborn screening: BabyScreen+ v0.0 CACNA1D Zornitza Stark gene: CACNA1D was added
gene: CACNA1D was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: CACNA1D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CACNA1D were set to Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474
Genomic newborn screening: BabyScreen+ v0.0 CACNA1C Zornitza Stark gene: CACNA1C was added
gene: CACNA1C was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CACNA1C were set to Timothy syndrome, MIM# 601005; Long QT syndrome 8, MIM# 618447
Genomic newborn screening: BabyScreen+ v0.0 CACNA1A Zornitza Stark gene: CACNA1A was added
gene: CACNA1A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CACNA1A were set to Episodic ataxia, type 2
Genomic newborn screening: BabyScreen+ v0.0 CABP2 Zornitza Stark gene: CABP2 was added
gene: CABP2 was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: CABP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CABP2 were set to Deafness, autosomal recessive 93, MIM# 614899
Genomic newborn screening: BabyScreen+ v0.0 CA2 Zornitza Stark gene: CA2 was added
gene: CA2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CA2 were set to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis
Genomic newborn screening: BabyScreen+ v0.0 CA5A Zornitza Stark gene: CA5A was added
gene: CA5A was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: CA5A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CA5A were set to Hyperammonaemia due to carbonic anhydrase VA deficiency, MIM# 615751
Genomic newborn screening: BabyScreen+ v0.0 C9 Zornitza Stark gene: C9 was added
gene: C9 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: C9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C9 were set to C9 deficiency, MIM# 613825
Genomic newborn screening: BabyScreen+ v0.0 C8B Zornitza Stark gene: C8B was added
gene: C8B was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: C8B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C8B were set to C8 deficiency, type II, MIM# 613789
Genomic newborn screening: BabyScreen+ v0.0 C8A Zornitza Stark gene: C8A was added
gene: C8A was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: C8A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C8A were set to C8 deficiency, type I, MIM# 613790
Genomic newborn screening: BabyScreen+ v0.0 C7 Zornitza Stark gene: C7 was added
gene: C7 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: C7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C7 were set to C7 deficiency, MIM# 610102
Genomic newborn screening: BabyScreen+ v0.0 C6 Zornitza Stark gene: C6 was added
gene: C6 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: C6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C6 were set to C6 deficiency, MIM# 612446
Genomic newborn screening: BabyScreen+ v0.0 C5 Zornitza Stark gene: C5 was added
gene: C5 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: C5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C5 were set to C5 deficiency, MIM# 609536
Genomic newborn screening: BabyScreen+ v0.0 C3 Zornitza Stark gene: C3 was added
gene: C3 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: C3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C3 were set to C3 deficiency, MIM# 613779
Genomic newborn screening: BabyScreen+ v0.0 BTK Zornitza Stark gene: BTK was added
gene: BTK was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: BTK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: BTK were set to Agammaglobulinemia, X-linked 1, MIM#300755
Genomic newborn screening: BabyScreen+ v0.0 BTD Zornitza Stark gene: BTD was added
gene: BTD was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: BTD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BTD were set to Biotinidase deficiency, MIM#253260
Genomic newborn screening: BabyScreen+ v0.0 BSND Zornitza Stark gene: BSND was added
gene: BSND was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: BSND was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BSND were set to Bartter syndrome with sensorineural deafness
Genomic newborn screening: BabyScreen+ v0.0 BSCL2 Zornitza Stark gene: BSCL2 was added
gene: BSCL2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: BSCL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BSCL2 were set to Lipodystrophy, congenital generalized, type 2, MIM# 269700; Berardinelli-Seip lipodystrophy
Genomic newborn screening: BabyScreen+ v0.0 BRIP1 Zornitza Stark gene: BRIP1 was added
gene: BRIP1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: BRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BRIP1 were set to Fanconi anaemia, complementation group J, MIM# 609054
Genomic newborn screening: BabyScreen+ v0.0 BRCA2 Zornitza Stark gene: BRCA2 was added
gene: BRCA2 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BRCA2 were set to Fanconi anaemia, complementation group D, MIM#1 605724
Genomic newborn screening: BabyScreen+ v0.0 BRAF Zornitza Stark gene: BRAF was added
gene: BRAF was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BRAF were set to Cardiofaciocutaneous syndrome, MIM# 115150; Noonan syndrome 7, MIM# 613706
Genomic newborn screening: BabyScreen+ v0.0 BMPR1A Zornitza Stark gene: BMPR1A was added
gene: BMPR1A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: BMPR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BMPR1A were set to Polyposis, juvenile intestinal, MIM# 174900
Genomic newborn screening: BabyScreen+ v0.0 BLNK Zornitza Stark gene: BLNK was added
gene: BLNK was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: BLNK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BLNK were set to Agammaglobulinaemia 4, MIM#613502
Genomic newborn screening: BabyScreen+ v0.0 BLM Zornitza Stark gene: BLM was added
gene: BLM was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BLM were set to Bloom syndrome
Genomic newborn screening: BabyScreen+ v0.0 BIN1 Zornitza Stark gene: BIN1 was added
gene: BIN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: BIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BIN1 were set to Myopathy, centronuclear, autosomal recessive
Genomic newborn screening: BabyScreen+ v0.0 BICD2 Zornitza Stark gene: BICD2 was added
gene: BICD2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BICD2 were set to Congenital spinal muscular atrophy
Genomic newborn screening: BabyScreen+ v0.0 BCS1L Zornitza Stark gene: BCS1L was added
gene: BCS1L was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCS1L were set to Complex 3 deficiency
Genomic newborn screening: BabyScreen+ v0.0 BCKDK Zornitza Stark gene: BCKDK was added
gene: BCKDK was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: BCKDK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCKDK were set to Branched-chain keto acid dehydrogenase kinase deficiency, MIM# 614923
Genomic newborn screening: BabyScreen+ v0.0 BCKDHB Zornitza Stark gene: BCKDHB was added
gene: BCKDHB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCKDHB were set to Maple syrup urine disease
Genomic newborn screening: BabyScreen+ v0.0 BCKDHA Zornitza Stark gene: BCKDHA was added
gene: BCKDHA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: BCKDHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCKDHA were set to Maple syrup urine disease
Genomic newborn screening: BabyScreen+ v0.0 BCHE Zornitza Stark gene: BCHE was added
gene: BCHE was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: BCHE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCHE were set to Butyrylcholinesterase deficiency, MIM# 617936
Genomic newborn screening: BabyScreen+ v0.0 BBS9 Zornitza Stark gene: BBS9 was added
gene: BBS9 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS9 were set to Bardet-Biedl syndrome
Genomic newborn screening: BabyScreen+ v0.0 BBS7 Zornitza Stark gene: BBS7 was added
gene: BBS7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS7 were set to Bardet-Biedl syndrome
Genomic newborn screening: BabyScreen+ v0.0 BBS5 Zornitza Stark gene: BBS5 was added
gene: BBS5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS5 were set to Bardet-Biedl syndrome
Genomic newborn screening: BabyScreen+ v0.0 BBS4 Zornitza Stark gene: BBS4 was added
gene: BBS4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS4 were set to Bardet-Biedl syndrome
Genomic newborn screening: BabyScreen+ v0.0 BBS2 Zornitza Stark gene: BBS2 was added
gene: BBS2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS2 were set to Bardet-Biedl syndrome
Genomic newborn screening: BabyScreen+ v0.0 BBS12 Zornitza Stark gene: BBS12 was added
gene: BBS12 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS12 were set to Bardet-Biedl syndrome
Genomic newborn screening: BabyScreen+ v0.0 BBS10 Zornitza Stark gene: BBS10 was added
gene: BBS10 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS10 were set to Bardet-Biedl syndrome
Genomic newborn screening: BabyScreen+ v0.0 BBS1 Zornitza Stark gene: BBS1 was added
gene: BBS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS1 were set to Bardet-Biedl syndrome
Genomic newborn screening: BabyScreen+ v0.0 BAAT Zornitza Stark gene: BAAT was added
gene: BAAT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: BAAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BAAT were set to Bile acid amidation defect
Genomic newborn screening: BabyScreen+ v0.0 B3GLCT Zornitza Stark gene: B3GLCT was added
gene: B3GLCT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GLCT were set to Peters-Plus syndrome
Genomic newborn screening: BabyScreen+ v0.0 AVPR2 Zornitza Stark gene: AVPR2 was added
gene: AVPR2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: AVPR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AVPR2 were set to Diabetes insipidus, nephrogenic, MIM#304800
Genomic newborn screening: BabyScreen+ v0.0 AUH Zornitza Stark gene: AUH was added
gene: AUH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AUH were set to 3-methylglutaconic aciduria, type I
Genomic newborn screening: BabyScreen+ v0.0 ATRX Zornitza Stark gene: ATRX was added
gene: ATRX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ATRX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATRX were set to Alpha-thalassemia/mental retardation syndrome
Genomic newborn screening: BabyScreen+ v0.0 ATP8B1 Zornitza Stark gene: ATP8B1 was added
gene: ATP8B1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ATP8B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP8B1 were set to Cholestasis, progressive familial intrahepatic 1
Genomic newborn screening: BabyScreen+ v0.0 ATP7B Zornitza Stark gene: ATP7B was added
gene: ATP7B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP7B were set to Wilson disease
Genomic newborn screening: BabyScreen+ v0.0 ATP7A Zornitza Stark gene: ATP7A was added
gene: ATP7A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATP7A were set to Menkes disease, MIM# 309400
Genomic newborn screening: BabyScreen+ v0.0 ATP6V1B1 Zornitza Stark gene: ATP6V1B1 was added
gene: ATP6V1B1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ATP6V1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP6V1B1 were set to Renal tubular acidosis & hearing loss, MIM#267300
Genomic newborn screening: BabyScreen+ v0.0 ATP6V0A4 Zornitza Stark gene: ATP6V0A4 was added
gene: ATP6V0A4 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: ATP6V0A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP6V0A4 were set to Distal renal tubular acidosis 3, with or without sensorineural hearing loss, MIM3 602722
Genomic newborn screening: BabyScreen+ v0.0 ATP6V0A2 Zornitza Stark gene: ATP6V0A2 was added
gene: ATP6V0A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP6V0A2 were set to Cutis laxa, autosomal recessive, type IIA
Genomic newborn screening: BabyScreen+ v0.0 ATP2B2 Zornitza Stark gene: ATP2B2 was added
gene: ATP2B2 was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: ATP2B2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATP2B2 were set to Deafness, childhood onset
Genomic newborn screening: BabyScreen+ v0.0 ATP2A1 Zornitza Stark gene: ATP2A1 was added
gene: ATP2A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ATP2A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP2A1 were set to Brody myopathy
Genomic newborn screening: BabyScreen+ v0.0 ATP1A2 Zornitza Stark gene: ATP1A2 was added
gene: ATP1A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ATP1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATP1A2 were set to Hemiplegic migraine
Genomic newborn screening: BabyScreen+ v0.0 ATM Zornitza Stark gene: ATM was added
gene: ATM was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATM were set to Ataxia-telangiectasia
Genomic newborn screening: BabyScreen+ v0.0 ASS1 Zornitza Stark gene: ASS1 was added
gene: ASS1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASS1 were set to Citrullinemia, MIM#215700
Genomic newborn screening: BabyScreen+ v0.0 ASPA Zornitza Stark gene: ASPA was added
gene: ASPA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASPA were set to Canavan disease
Genomic newborn screening: BabyScreen+ v0.0 ASL Zornitza Stark gene: ASL was added
gene: ASL was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASL were set to Argininosuccinic aciduria, MIM#207900
Genomic newborn screening: BabyScreen+ v0.0 ARX Zornitza Stark gene: ARX was added
gene: ARX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ARX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ARX were set to Lissencephaly, X-linked 2
Genomic newborn screening: BabyScreen+ v0.0 ARSB Zornitza Stark gene: ARSB was added
gene: ARSB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSB were set to Mucopolysaccharidosis type VI (Maroteaux-Lamy)
Genomic newborn screening: BabyScreen+ v0.0 ARSA Zornitza Stark gene: ARSA was added
gene: ARSA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSA were set to Metachromatic leukodystrophy
Genomic newborn screening: BabyScreen+ v0.0 ARPC1B Zornitza Stark gene: ARPC1B was added
gene: ARPC1B was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: ARPC1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARPC1B were set to Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, MIM#617718
Genomic newborn screening: BabyScreen+ v0.0 ARMC4 Zornitza Stark gene: ARMC4 was added
gene: ARMC4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ARMC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARMC4 were set to Primary ciliary dyskinesia
Genomic newborn screening: BabyScreen+ v0.0 ARID1B Zornitza Stark gene: ARID1B was added
gene: ARID1B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ARID1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ARID1B were set to Coffin-Siris syndrome
Genomic newborn screening: BabyScreen+ v0.0 ARG1 Zornitza Stark gene: ARG1 was added
gene: ARG1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARG1 were set to Arginase deficiency, MIM#207800
Genomic newborn screening: BabyScreen+ v0.0 ARFGEF2 Zornitza Stark gene: ARFGEF2 was added
gene: ARFGEF2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ARFGEF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARFGEF2 were set to Periventricular heterotopia with microcephaly
Genomic newborn screening: BabyScreen+ v0.0 AR Zornitza Stark gene: AR was added
gene: AR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: AR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AR were set to Androgen insensitivity, MIM# 300068
Genomic newborn screening: BabyScreen+ v0.0 APTX Zornitza Stark gene: APTX was added
gene: APTX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APTX were set to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Genomic newborn screening: BabyScreen+ v0.0 APRT Zornitza Stark gene: APRT was added
gene: APRT was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: APRT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APRT were set to Adenine phosphoribosyltransferase deficiency, MIM# 614723
Genomic newborn screening: BabyScreen+ v0.0 AQP2 Zornitza Stark gene: AQP2 was added
gene: AQP2 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: AQP2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: AQP2 were set to Diabetes insipidus, nephrogenic, 2, MIM#125800
Genomic newborn screening: BabyScreen+ v0.0 APOB Zornitza Stark gene: APOB was added
gene: APOB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: APOB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APOB were set to Apolipoprotein B deficiency
Genomic newborn screening: BabyScreen+ v0.0 APC Zornitza Stark gene: APC was added
gene: APC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: APC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: APC were set to Adenomatous polyposis coli; Adenomatous polyposis coli, attenuated
Genomic newborn screening: BabyScreen+ v0.0 AP4M1 Zornitza Stark gene: AP4M1 was added
gene: AP4M1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: AP4M1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP4M1 were set to 31915823; 32979048; 19559397; 25496299; 21937992; 28464862; 29096665
Phenotypes for gene: AP4M1 were set to Spastic paraplegia 50, autosomal recessive, MIM# 612936
Genomic newborn screening: BabyScreen+ v0.0 AP4E1 Zornitza Stark gene: AP4E1 was added
gene: AP4E1 was added to gNBS. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: AP4E1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP4E1 were set to 20972249; 32979048; 23472171; 21620353; 21937992
Phenotypes for gene: AP4E1 were set to Spastic paraplegia 51, autosomal recessive, MIM# 613744
Genomic newborn screening: BabyScreen+ v0.0 AP4B1 Zornitza Stark gene: AP4B1 was added
gene: AP4B1 was added to gNBS. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP4B1 were set to 24700674; 32979048; 32166732; 32171285; 22290197; 21620353; 31525725; 24781758
Phenotypes for gene: AP4B1 were set to Spastic paraplegia 47, autosomal recessive, MIM# 614066
Genomic newborn screening: BabyScreen+ v0.0 AP3B1 Zornitza Stark gene: AP3B1 was added
gene: AP3B1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: AP3B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP3B1 were set to Hermansky-Pudlak syndrome 2
Genomic newborn screening: BabyScreen+ v0.0 ANTXR2 Zornitza Stark gene: ANTXR2 was added
gene: ANTXR2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ANTXR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANTXR2 were set to Hyaline fibromatosis syndrome
Genomic newborn screening: BabyScreen+ v0.0 ANO10 Zornitza Stark gene: ANO10 was added
gene: ANO10 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ANO10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANO10 were set to Spinocerebellar ataxia, autosomal recessive 10
Genomic newborn screening: BabyScreen+ v0.0 ANKRD26 Zornitza Stark gene: ANKRD26 was added
gene: ANKRD26 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ANKRD26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ANKRD26 were set to Thrombocytopenia 2
Genomic newborn screening: BabyScreen+ v0.0 ANKH Zornitza Stark gene: ANKH was added
gene: ANKH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ANKH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ANKH were set to Craniometaphyseal dysplasia
Genomic newborn screening: BabyScreen+ v0.0 ANK2 Zornitza Stark gene: ANK2 was added
gene: ANK2 was added to gNBS. Sources: BabySeq Category B gene,Expert Review Green
Mode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ANK2 were set to Complex neurodevelopmental disorder, MONDO:0100038
Genomic newborn screening: BabyScreen+ v0.0 ANK1 Zornitza Stark gene: ANK1 was added
gene: ANK1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ANK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ANK1 were set to Spherocytosis
Genomic newborn screening: BabyScreen+ v0.0 AMT Zornitza Stark gene: AMT was added
gene: AMT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: AMT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AMT were set to Hyperglycinaemia, non-ketotic
Genomic newborn screening: BabyScreen+ v0.0 AMN Zornitza Stark gene: AMN was added
gene: AMN was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: AMN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AMN were set to Megaloblastic anemia-1, Norwegian type, MIM#618882
Genomic newborn screening: BabyScreen+ v0.0 AMELX Zornitza Stark gene: AMELX was added
gene: AMELX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: AMELX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AMELX were set to Amelogenesis imperfecta
Genomic newborn screening: BabyScreen+ v0.0 ALX4 Zornitza Stark gene: ALX4 was added
gene: ALX4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ALX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ALX4 were set to Parietal foramina 2
Genomic newborn screening: BabyScreen+ v0.0 ALS2 Zornitza Stark gene: ALS2 was added
gene: ALS2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ALS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALS2 were set to Amyotrophic lateral sclerosis
Genomic newborn screening: BabyScreen+ v0.0 ALPL Zornitza Stark gene: ALPL was added
gene: ALPL was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ALPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALPL were set to Hypophosphatasia, MIM#241500
Genomic newborn screening: BabyScreen+ v0.0 ALOXE3 Zornitza Stark gene: ALOXE3 was added
gene: ALOXE3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ALOXE3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALOXE3 were set to Ichthyosis, congenital, autosomal recessive
Genomic newborn screening: BabyScreen+ v0.0 ALOX12B Zornitza Stark gene: ALOX12B was added
gene: ALOX12B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ALOX12B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALOX12B were set to Ichthyosis, congenital, autosomal recessive
Genomic newborn screening: BabyScreen+ v0.0 ALMS1 Zornitza Stark gene: ALMS1 was added
gene: ALMS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALMS1 were set to Alstrom syndrome
Genomic newborn screening: BabyScreen+ v0.0 ALG9 Zornitza Stark gene: ALG9 was added
gene: ALG9 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG9 were set to 26453364; 25966638; 28932688
Phenotypes for gene: ALG9 were set to Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210; Congenital disorder of glycosylation, type Il, MIM#608776
Genomic newborn screening: BabyScreen+ v0.0 ALG8 Zornitza Stark gene: ALG8 was added
gene: ALG8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ALG8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG8 were set to Congenital disorder of glycosylation, type Ih
Genomic newborn screening: BabyScreen+ v0.0 ALG6 Zornitza Stark gene: ALG6 was added
gene: ALG6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ALG6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG6 were set to Congenital disorder of glycosylation, type Ic
Genomic newborn screening: BabyScreen+ v0.0 ALG3 Zornitza Stark gene: ALG3 was added
gene: ALG3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ALG3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG3 were set to Congenital disorder of glycosylation, type Id
Genomic newborn screening: BabyScreen+ v0.0 ALG14 Zornitza Stark gene: ALG14 was added
gene: ALG14 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG14 were set to Myasthenic syndrome, congenital, 15, without tubular aggregates, MIM#616227
Genomic newborn screening: BabyScreen+ v0.0 ALG12 Zornitza Stark gene: ALG12 was added
gene: ALG12 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ALG12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG12 were set to Congenital disorder of glycosylation, type Ig
Genomic newborn screening: BabyScreen+ v0.0 ALG1 Zornitza Stark gene: ALG1 was added
gene: ALG1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ALG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG1 were set to Congenital disorder of glycosylation, type Ik
Genomic newborn screening: BabyScreen+ v0.0 ALDOB Zornitza Stark gene: ALDOB was added
gene: ALDOB was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ALDOB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDOB were set to Fructose intolerance, MIM#229600
Genomic newborn screening: BabyScreen+ v0.0 ALDH7A1 Zornitza Stark gene: ALDH7A1 was added
gene: ALDH7A1 was added to gNBS. Sources: Expert list,BeginNGS,Expert Review Green
Mode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH7A1 were set to Epilepsy, pyridoxine-dependent, MIM# 266100
Genomic newborn screening: BabyScreen+ v0.0 ALDH5A1 Zornitza Stark gene: ALDH5A1 was added
gene: ALDH5A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ALDH5A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH5A1 were set to Succinic semialdehyde dehydrogenase deficiency
Genomic newborn screening: BabyScreen+ v0.0 ALDH3A2 Zornitza Stark gene: ALDH3A2 was added
gene: ALDH3A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome
Genomic newborn screening: BabyScreen+ v0.0 ALDH18A1 Zornitza Stark gene: ALDH18A1 was added
gene: ALDH18A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ALDH18A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH18A1 were set to Cutis laxa, autosomal recessive, type IIIA
Genomic newborn screening: BabyScreen+ v0.0 ALB Zornitza Stark gene: ALB was added
gene: ALB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ALB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALB were set to Analbuminemia
Genomic newborn screening: BabyScreen+ v0.0 ALAS2 Zornitza Stark gene: ALAS2 was added
gene: ALAS2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ALAS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ALAS2 were set to Anemia, sideroblastic, X-linked
Genomic newborn screening: BabyScreen+ v0.0 AKR1D1 Zornitza Stark gene: AKR1D1 was added
gene: AKR1D1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: AKR1D1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AKR1D1 were set to Bile acid synthesis defect, congenital, 2
Genomic newborn screening: BabyScreen+ v0.0 AK2 Zornitza Stark gene: AK2 was added
gene: AK2 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AK2 were set to Reticular dysgenesis, MIM# 267500
Genomic newborn screening: BabyScreen+ v0.0 AIRE Zornitza Stark gene: AIRE was added
gene: AIRE was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: AIRE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AIRE were set to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia
Genomic newborn screening: BabyScreen+ v0.0 AIFM1 Zornitza Stark gene: AIFM1 was added
gene: AIFM1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AIFM1 were set to Cowchock syndrome
Genomic newborn screening: BabyScreen+ v0.0 AHI1 Zornitza Stark gene: AHI1 was added
gene: AHI1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AHI1 were set to Joubert syndrome-3
Genomic newborn screening: BabyScreen+ v0.0 AHCY Zornitza Stark gene: AHCY was added
gene: AHCY was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: AHCY was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: AHCY were set to Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM# 613752
Genomic newborn screening: BabyScreen+ v0.0 AGXT Zornitza Stark gene: AGXT was added
gene: AGXT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGXT were set to Hyperoxaluria, primary, type 1
Genomic newborn screening: BabyScreen+ v0.0 AGRN Zornitza Stark gene: AGRN was added
gene: AGRN was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: AGRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGRN were set to Myasthenia, limb-girdle, familial, MIM#615120
Genomic newborn screening: BabyScreen+ v0.0 AGL Zornitza Stark gene: AGL was added
gene: AGL was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGL were set to Glycogen storage disease IIIa, MIM#232400
Genomic newborn screening: BabyScreen+ v0.0 AGA Zornitza Stark gene: AGA was added
gene: AGA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGA were set to Aspartylglucosaminuria
Genomic newborn screening: BabyScreen+ v0.0 ADK Zornitza Stark gene: ADK was added
gene: ADK was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ADK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADK were set to Hypermethioninemia due to adenosine kinase deficiency
Genomic newborn screening: BabyScreen+ v0.0 ADGRV1 Zornitza Stark gene: ADGRV1 was added
gene: ADGRV1 was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: ADGRV1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADGRV1 were set to Usher syndrome, type 2C
Genomic newborn screening: BabyScreen+ v0.0 ADGRG1 Zornitza Stark gene: ADGRG1 was added
gene: ADGRG1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ADGRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADGRG1 were set to Polymicrogyria, bilateral frontoparietal
Genomic newborn screening: BabyScreen+ v0.0 ADAR Zornitza Stark gene: ADAR was added
gene: ADAR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ADAR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome; Dyschromatosis symmetrica hereditaria
Genomic newborn screening: BabyScreen+ v0.0 ADAMTSL2 Zornitza Stark gene: ADAMTSL2 was added
gene: ADAMTSL2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ADAMTSL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTSL2 were set to Geleophysic dysplasia 1
Genomic newborn screening: BabyScreen+ v0.0 ADAMTS13 Zornitza Stark gene: ADAMTS13 was added
gene: ADAMTS13 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ADAMTS13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTS13 were set to Thrombotic thrombocytopenic purpura, familial, MIM#274150
Genomic newborn screening: BabyScreen+ v0.0 ADA Zornitza Stark gene: ADA was added
gene: ADA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADA were set to Severe combined immunodeficiency due to ADA deficiency, MIM#102700
Genomic newborn screening: BabyScreen+ v0.0 ACVRL1 Zornitza Stark gene: ACVRL1 was added
gene: ACVRL1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2, MIM#600376
Genomic newborn screening: BabyScreen+ v0.0 ACVR1 Zornitza Stark gene: ACVR1 was added
gene: ACVR1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ACVR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACVR1 were set to Fibrodysplasia ossificans progressiva
Genomic newborn screening: BabyScreen+ v0.0 ACTN4 Zornitza Stark gene: ACTN4 was added
gene: ACTN4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ACTN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTN4 were set to Glomerulosclerosis, focal segmental, 1
Genomic newborn screening: BabyScreen+ v0.0 ACTN1 Zornitza Stark gene: ACTN1 was added
gene: ACTN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ACTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTN1 were set to Macrothrombocytopenia
Genomic newborn screening: BabyScreen+ v0.0 ACTG2 Zornitza Stark gene: ACTG2 was added
gene: ACTG2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ACTG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTG2 were set to Megacystis-microcolon-intestinal hypoperistalsis syndrome
Genomic newborn screening: BabyScreen+ v0.0 ACTG1 Zornitza Stark gene: ACTG1 was added
gene: ACTG1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ACTG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTG1 were set to Baraitser-Winter syndrome; Deafness, autosomal dominant
Genomic newborn screening: BabyScreen+ v0.0 ACOX1 Zornitza Stark gene: ACOX1 was added
gene: ACOX1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ACOX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACOX1 were set to Peroxisomal acyl-CoA oxidase deficiency
Genomic newborn screening: BabyScreen+ v0.0 ACE Zornitza Stark gene: ACE was added
gene: ACE was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ACE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACE were set to Renal tubular dysgenesis
Genomic newborn screening: BabyScreen+ v0.0 ACAT1 Zornitza Stark gene: ACAT1 was added
gene: ACAT1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACAT1 were set to Alpha-methylacetoacetic aciduria, MIM#203750
Genomic newborn screening: BabyScreen+ v0.0 ACADVL Zornitza Stark gene: ACADVL was added
gene: ACADVL was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADVL were set to VLCAD deficiency, MIM#201475
Genomic newborn screening: BabyScreen+ v0.0 ACADM Zornitza Stark gene: ACADM was added
gene: ACADM was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADM were set to Medium chain acyl CoA dehydrogenase deficiency, MIM#201450
Genomic newborn screening: BabyScreen+ v0.0 ACAD9 Zornitza Stark gene: ACAD9 was added
gene: ACAD9 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACAD9 were set to Mitochondrial complex I deficiency, nuclear type 20, MIM#611126
Genomic newborn screening: BabyScreen+ v0.0 ACAD8 Zornitza Stark gene: ACAD8 was added
gene: ACAD8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ACAD8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACAD8 were set to Isobutyryl-CoA dehydrogenase deficiency
Genomic newborn screening: BabyScreen+ v0.0 ABCG5 Zornitza Stark gene: ABCG5 was added
gene: ABCG5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ABCG5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCG5 were set to Sitosterolemia
Genomic newborn screening: BabyScreen+ v0.0 ABCD4 Zornitza Stark gene: ABCD4 was added
gene: ABCD4 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: ABCD4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCD4 were set to MAHCJ, MIM#614857; Methylmalonic aciduria and homocystinuria, cblJ TYPE
Genomic newborn screening: BabyScreen+ v0.0 ABCD1 Zornitza Stark gene: ABCD1 was added
gene: ABCD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ABCD1 were set to Adrenoleukodystrophy
Genomic newborn screening: BabyScreen+ v0.0 ABCC8 Zornitza Stark gene: ABCC8 was added
gene: ABCC8 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ABCC8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ABCC8 were set to Hyperinsulinemic hypoglycemia, familial, MIM#256450
Genomic newborn screening: BabyScreen+ v0.0 ABCC6 Zornitza Stark gene: ABCC6 was added
gene: ABCC6 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCC6 were set to Arterial calcification, generalized, of infancy, 2, #MIM614473
Genomic newborn screening: BabyScreen+ v0.0 ABCC2 Zornitza Stark gene: ABCC2 was added
gene: ABCC2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: ABCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCC2 were set to 11477083; 30344695
Phenotypes for gene: ABCC2 were set to Dubin-Johnson syndrome, MIM# 237500
Genomic newborn screening: BabyScreen+ v0.0 ABCB4 Zornitza Stark gene: ABCB4 was added
gene: ABCB4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ABCB4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCB4 were set to Cholestasis, progressive familial intrahepatic 3