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Genomic newborn screening: BabyScreen+ v0.1275 HGD Zornitza Stark Gene: hgd has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1275 HGD Zornitza Stark Phenotypes for gene: HGD were changed from Alkaptonuria to Alkaptonuria MIM#203500
Genomic newborn screening: BabyScreen+ v0.1274 HGD Zornitza Stark Publications for gene: HGD were set to
Genomic newborn screening: BabyScreen+ v0.1273 HGD Zornitza Stark Classified gene: HGD as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1273 HGD Zornitza Stark Gene: hgd has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1272 PIGA John Christodoulou reviewed gene: PIGA: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32256299, PMID: 24706016, PMID: 25885527, PMID: 24259184; Phenotypes: hypotonia, infantile epileptic encephalopathy, facial dysmorphism; Mode of inheritance: 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+ v0.1272 KARS John Christodoulou reviewed gene: KARS: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 29615062; Phenotypes: leukoencephalopathy, SNHL, neurodenegeration, cardiomyopathy, visual loss; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.1272 IDUA John Christodoulou reviewed gene: IDUA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30143438; Phenotypes: coarse facie, corneal clouding, progressive neurodegeneration, dysostosis multiplex, hepatosplenomegaly, hernias, macrocephaly, cardiac valve involvement, SNHL, upper airways obstruction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1272 IDS John Christodoulou reviewed gene: IDS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30143438, PMID: 33004112; Phenotypes: coarse facial features, cardiac valve involvement, hepatosplenomegaly, cardiomyopathy, airway obstruction, hydrocephalus, SNHL, dysostosis multiplex, kyphoscoliosis, progressive cognitive decline; Mode of inheritance: 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+ v0.1272 HSD3B2 John Christodoulou reviewed gene: HSD3B2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26079780, PMID: 33757164; Phenotypes: adrenal insufficiency, hypspadias, pseudohermaphroditism in males, mild masculinization in females; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1272 HSD17B10 John Christodoulou reviewed gene: HSD17B10: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 22127393; Phenotypes: cardiomyopathy, early-onset intractable seizures, progressive choreoathetosis, spastic tetraplegia, optic atrophy, retinal degeneration, intellectual disability; Mode of inheritance: 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+ v0.1272 HPRT1 John Christodoulou reviewed gene: HPRT1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 18067674; Phenotypes: kidney stones, nephrocalcinosis, gout, dystonia, choreoathetosis, ballismus, cognitive impairment, self-injurious behaviour, megaloblastic anaemia; Mode of inheritance: 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+ v0.1272 HGD John Christodoulou reviewed gene: HGD: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 34344451, PMID: 12501223, PMID: 12501223; Phenotypes: progressive arthritis, progressive calcific cardiac valve damage, renal stones; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1272 HSD17B3 Zornitza Stark Marked gene: HSD17B3 as ready
Genomic newborn screening: BabyScreen+ v0.1272 HSD17B3 Zornitza Stark Gene: hsd17b3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1272 HSD17B3 Zornitza Stark Phenotypes for gene: HSD17B3 were changed from Pseudohermaphroditism, male, with gynecomastia to Pseudohermaphroditism, male, with gynecomastia MIM#264300
Genomic newborn screening: BabyScreen+ v0.1271 HSD17B3 Zornitza Stark Classified gene: HSD17B3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1271 HSD17B3 Zornitza Stark Gene: hsd17b3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1270 HSD17B3 Zornitza Stark reviewed gene: HSD17B3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudohermaphroditism, male, with gynecomastia MIM#264300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1270 HSD17B4 Zornitza Stark Marked gene: HSD17B4 as ready
Genomic newborn screening: BabyScreen+ v0.1270 HSD17B4 Zornitza Stark Gene: hsd17b4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1270 HSD17B4 Zornitza Stark Phenotypes for gene: HSD17B4 were changed from D-bifunctional protein deficiency to D-bifunctional protein deficiency, AR (MIM#261515); Perrault syndrome 1, AR (MIM#233400)
Genomic newborn screening: BabyScreen+ v0.1269 HSD17B4 Zornitza Stark Classified gene: HSD17B4 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1269 HSD17B4 Zornitza Stark Gene: hsd17b4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1268 HSD17B4 Zornitza Stark changed review comment from: Well established association with peroxisomal disorders.

Congenital onset, variable severity.

No specific treatment.; to: Well established association with peroxisomal disorders.

Congenital onset, variable severity. SNHL is of childhood onset.

No specific treatment.
Genomic newborn screening: BabyScreen+ v0.1268 HSD17B4 Zornitza Stark reviewed gene: HSD17B4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: D-bifunctional protein deficiency, AR (MIM#261515), Perrault syndrome 1, AR (MIM#233400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1268 HSD3B2 Zornitza Stark Marked gene: HSD3B2 as ready
Genomic newborn screening: BabyScreen+ v0.1268 HSD3B2 Zornitza Stark Gene: hsd3b2 has been classified as Green List (High Evidence).
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+ v0.1268 HSD3B2 Zornitza Stark reviewed gene: HSD3B2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM# 201810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1268 HSD3B7 Zornitza Stark Marked gene: HSD3B7 as ready
Genomic newborn screening: BabyScreen+ v0.1268 HSD3B7 Zornitza Stark Gene: hsd3b7 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1268 HSD3B7 Zornitza Stark Phenotypes for gene: HSD3B7 were changed from 3 beta-hydroxysteroid dehydrogenase deficiency to Bile acid synthesis defect, congenital, 1 MIM#607765
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+ v0.1267 HSD3B7 Zornitza Stark reviewed gene: HSD3B7: Rating: GREEN; Mode of pathogenicity: None; Publications: 30373615; Phenotypes: Bile acid synthesis defect, congenital, 1 MIM#607765; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1267 HSPB8 Zornitza Stark Marked gene: HSPB8 as ready
Genomic newborn screening: BabyScreen+ v0.1267 HSPB8 Zornitza Stark Gene: hspb8 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1267 HSPB8 Zornitza Stark Phenotypes for gene: HSPB8 were changed from Charcot-Marie-Tooth disease, axonal, type 2L to Neuropathy, distal hereditary motor type IIA, 158590; Charcot-Marie-Tooth disease, axonal, type 2L, MIM# 608673
Genomic newborn screening: BabyScreen+ v0.1266 HSPB8 Zornitza Stark Classified gene: HSPB8 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1266 HSPB8 Zornitza Stark Gene: hspb8 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1265 HSPB8 Zornitza Stark reviewed gene: HSPB8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuropathy, distal hereditary motor type IIA, 158590, Charcot-Marie-Tooth disease, axonal, type 2L, MIM# 608673; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1265 HSPG2 Zornitza Stark Marked gene: HSPG2 as ready
Genomic newborn screening: BabyScreen+ v0.1265 HSPG2 Zornitza Stark Gene: hspg2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1265 HSPG2 Zornitza Stark Phenotypes for gene: HSPG2 were changed from Schwartz-Jampel syndrome to Schwartz-Jampel syndrome, type 1, MIM# 255800; MONDO:0009717; Dyssegmental dysplasia, Silverman-Handmaker type, MIM# 224410; MONDO:0009140
Genomic newborn screening: BabyScreen+ v0.1264 HSPG2 Zornitza Stark Classified gene: HSPG2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1264 HSPG2 Zornitza Stark Gene: hspg2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1263 HSPG2 Zornitza Stark reviewed gene: HSPG2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Schwartz-Jampel syndrome, type 1, MIM# 255800, MONDO:0009717, Dyssegmental dysplasia, Silverman-Handmaker type, MIM# 224410, MONDO:0009140; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1263 HTRA1 Zornitza Stark Marked gene: HTRA1 as ready
Genomic newborn screening: BabyScreen+ v0.1263 HTRA1 Zornitza Stark Gene: htra1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1263 HTRA1 Zornitza Stark Phenotypes for gene: HTRA1 were changed from CARASIL syndrome to CARASIL syndrome, MIM# 600142
Genomic newborn screening: BabyScreen+ v0.1262 HTRA1 Zornitza Stark Classified gene: HTRA1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1262 HTRA1 Zornitza Stark Gene: htra1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1261 HTRA1 Zornitza Stark reviewed gene: HTRA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: CARASIL syndrome, MIM# 600142; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1261 SLC4A4 Seb Lunke Marked gene: SLC4A4 as ready
Genomic newborn screening: BabyScreen+ v0.1261 SLC4A4 Seb Lunke Gene: slc4a4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1261 SLC4A4 Seb Lunke Tag for review tag was added to gene: SLC4A4.
Genomic newborn screening: BabyScreen+ v0.1261 SLC4A4 Seb Lunke Phenotypes for gene: SLC4A4 were changed from Renal tubular acidosis, proximal, with ocular abnormalities to Renal tubular acidosis, proximal, with ocular abnormalities, MIM# 604278
Genomic newborn screening: BabyScreen+ v0.1260 SLC4A4 Seb Lunke reviewed gene: SLC4A4: Rating: RED; Mode of pathogenicity: None; Publications: 24978391; Phenotypes: Renal tubular acidosis, proximal, with ocular abnormalities, MIM# 604278; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1260 ILDR1 Zornitza Stark Marked gene: ILDR1 as ready
Genomic newborn screening: BabyScreen+ v0.1260 ILDR1 Zornitza Stark Gene: ildr1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1260 ILDR1 Zornitza Stark Phenotypes for gene: ILDR1 were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 42, MIM# 609646
Genomic newborn screening: BabyScreen+ v0.1259 ILDR1 Zornitza Stark reviewed gene: ILDR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 42, MIM# 609646; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1259 IL2RB Zornitza Stark Marked gene: IL2RB as ready
Genomic newborn screening: BabyScreen+ v0.1259 IL2RB Zornitza Stark Gene: il2rb has been classified as Green List (High Evidence).
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+ v0.1259 IL2RB Zornitza Stark reviewed gene: IL2RB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 63 with lymphoproliferation and autoimmunity, MIM# 618495; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1259 SLC5A6 Seb Lunke Marked gene: SLC5A6 as ready
Genomic newborn screening: BabyScreen+ v0.1259 SLC5A6 Seb Lunke Gene: slc5a6 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1259 SLC5A6 Seb Lunke Phenotypes for gene: SLC5A6 were changed from to Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973
Genomic newborn screening: BabyScreen+ v0.1258 SLC5A6 Seb Lunke Classified gene: SLC5A6 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1258 SLC5A6 Seb Lunke Gene: slc5a6 has been classified as Green List (High Evidence).
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+ v0.1256 SLC5A7 Seb Lunke Marked gene: SLC5A7 as ready
Genomic newborn screening: BabyScreen+ v0.1256 SLC5A7 Seb Lunke Gene: slc5a7 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1256 SLC5A7 Seb Lunke Classified gene: SLC5A7 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1256 SLC5A7 Seb Lunke Gene: slc5a7 has been classified as Green List (High Evidence).
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+ v0.1254 SLC9A3 Seb Lunke Marked gene: SLC9A3 as ready
Genomic newborn screening: BabyScreen+ v0.1254 SLC9A3 Seb Lunke Gene: slc9a3 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1254 SLC9A3 Seb Lunke Classified gene: SLC9A3 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1254 SLC9A3 Seb Lunke Gene: slc9a3 has been classified as Amber List (Moderate Evidence).
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+ v0.1252 ADA2 Seb Lunke Classified gene: ADA2 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1252 ADA2 Seb Lunke Gene: ada2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1251 ADA2 Seb Lunke Marked gene: ADA2 as ready
Genomic newborn screening: BabyScreen+ v0.1251 ADA2 Seb Lunke Gene: ada2 has been classified as Red List (Low Evidence).
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 Marked gene: IL7R as ready
Genomic newborn screening: BabyScreen+ v0.1250 IL7R Zornitza Stark Gene: il7r has been classified as Green List (High Evidence).
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 IL7R Zornitza Stark reviewed gene: IL7R: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM# 608971; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1250 IL2RG Zornitza Stark Marked gene: IL2RG as ready
Genomic newborn screening: BabyScreen+ v0.1250 IL2RG Zornitza Stark Gene: il2rg has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1250 IL2RG Zornitza Stark edited their review of gene: IL2RG: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
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+ v0.1250 IL2RG Zornitza Stark reviewed gene: IL2RG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe combined immunodeficiency, X-linked MIM# 300400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1250 IKBKG Zornitza Stark Marked gene: IKBKG as ready
Genomic newborn screening: BabyScreen+ v0.1250 IKBKG Zornitza Stark Gene: ikbkg has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1250 IKBKG Zornitza Stark Phenotypes for gene: IKBKG were changed from Incontinentia pigmenti 1 to Immunodeficiency 33 (300636)
Genomic newborn screening: BabyScreen+ v0.1249 IKBKG Zornitza Stark Classified gene: IKBKG as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1249 IKBKG Zornitza Stark Gene: ikbkg has been classified as Amber List (Moderate Evidence).
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 IKBKG Zornitza Stark reviewed gene: IKBKG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 33 (300636); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
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+ v0.1248 IGSF1 Zornitza Stark Marked gene: IGSF1 as ready
Genomic newborn screening: BabyScreen+ v0.1248 IGSF1 Zornitza Stark Gene: igsf1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1248 IGSF1 Zornitza Stark Phenotypes for gene: IGSF1 were changed from Central hypothyroidism and testicular enlargement to Hypothyroidism, central, and testicular enlargement, MIM# 300888
Genomic newborn screening: BabyScreen+ v0.1247 IGSF1 Zornitza Stark reviewed gene: IGSF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypothyroidism, central, and testicular enlargement, MIM# 300888; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
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+ v0.1247 IGLL1 Zornitza Stark Marked gene: IGLL1 as ready
Genomic newborn screening: BabyScreen+ v0.1247 IGLL1 Zornitza Stark Gene: igll1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1247 IGLL1 Zornitza Stark reviewed gene: IGLL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinaemia 2, MIM# 613500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1247 IGHMBP2 Zornitza Stark Marked gene: IGHMBP2 as ready
Genomic newborn screening: BabyScreen+ v0.1247 IGHMBP2 Zornitza Stark Gene: ighmbp2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1247 IGHMBP2 Zornitza Stark Phenotypes for gene: IGHMBP2 were changed from Spinal muscular atrophy with respiratory distress to Neuronopathy, distal hereditary motor, type VI, MIM# 604320; Charcot-Marie-Tooth disease, axonal, type 2S, MIM# 616155
Genomic newborn screening: BabyScreen+ v0.1246 IGHMBP2 Zornitza Stark Classified gene: IGHMBP2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1246 IGHMBP2 Zornitza Stark Gene: ighmbp2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1245 IGHMBP2 Zornitza Stark reviewed gene: IGHMBP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuronopathy, distal hereditary motor, type VI, MIM# 604320, Charcot-Marie-Tooth disease, axonal, type 2S, MIM# 616155; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1245 IGHM Zornitza Stark Marked gene: IGHM as ready
Genomic newborn screening: BabyScreen+ v0.1245 IGHM Zornitza Stark Gene: ighm has been classified as Green List (High Evidence).
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+ v0.1245 IGHM Zornitza Stark reviewed gene: IGHM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinaemia 1, MIM# 601495; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1245 IDUA Zornitza Stark Marked gene: IDUA as ready
Genomic newborn screening: BabyScreen+ v0.1245 IDUA Zornitza Stark Gene: idua has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1245 IDUA Zornitza Stark Phenotypes for gene: IDUA were changed from Mucopolysaccharidosis Ih, MIM#607014 to Mucopolysaccharidosis type 1, MONDO:0001586
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+ v0.1244 IDUA Zornitza Stark reviewed gene: IDUA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis type 1, MONDO:0001586; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1244 IDS Zornitza Stark Marked gene: IDS as ready
Genomic newborn screening: BabyScreen+ v0.1244 IDS Zornitza Stark Gene: ids has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1244 IDS Zornitza Stark Phenotypes for gene: IDS were changed from Mucopolysaccharidosis II to Mucopolysaccharidosis II (MPS2, Hunter syndrome) 309900
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+ v0.1243 IDS Zornitza Stark edited their review of gene: IDS: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1243 IDS Zornitza Stark reviewed gene: IDS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis II (MPS2, Hunter syndrome) 309900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1243 IL10RA Zornitza Stark Marked gene: IL10RA as ready
Genomic newborn screening: BabyScreen+ v0.1243 IL10RA Zornitza Stark Gene: il10ra has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1243 IL10RA Zornitza Stark Phenotypes for gene: IL10RA were changed from Inflammatory bowel disease, MIM#613148 to Inflammatory bowel disease 28, early onset, autosomal recessive, MIM# 613148
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+ v0.1242 IL10RA Zornitza Stark reviewed gene: IL10RA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Inflammatory bowel disease 28, early onset, autosomal recessive, MIM# 613148; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1242 INVS Zornitza Stark Marked gene: INVS as ready
Genomic newborn screening: BabyScreen+ v0.1242 INVS Zornitza Stark Gene: invs has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1242 INVS Zornitza Stark Phenotypes for gene: INVS were changed from Nephronophthisis 2 to Nephronophthisis 2, infantile, (MIM#602088)
Genomic newborn screening: BabyScreen+ v0.1241 INVS Zornitza Stark Classified gene: INVS as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1241 INVS Zornitza Stark Gene: invs has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1240 INVS Zornitza Stark reviewed gene: INVS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 2, infantile, (MIM#602088); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1240 IQCB1 Zornitza Stark Marked gene: IQCB1 as ready
Genomic newborn screening: BabyScreen+ v0.1240 IQCB1 Zornitza Stark Gene: iqcb1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1240 IQCB1 Zornitza Stark Phenotypes for gene: IQCB1 were changed from Senior-Loken syndrome 5 to Senior-Loken syndrome 5, MIM# 609254
Genomic newborn screening: BabyScreen+ v0.1239 IQCB1 Zornitza Stark Classified gene: IQCB1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1239 IQCB1 Zornitza Stark Gene: iqcb1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1238 IQCB1 Zornitza Stark reviewed gene: IQCB1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Senior-Loken syndrome 5, MIM# 609254; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1238 IRAK4 Zornitza Stark Marked gene: IRAK4 as ready
Genomic newborn screening: BabyScreen+ v0.1238 IRAK4 Zornitza Stark Gene: irak4 has been classified as Green List (High Evidence).
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+ v0.1238 IRAK4 Zornitza Stark reviewed gene: IRAK4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 67, MIM# 607676; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1238 IRF6 Zornitza Stark Marked gene: IRF6 as ready
Genomic newborn screening: BabyScreen+ v0.1238 IRF6 Zornitza Stark Gene: irf6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1238 IRF6 Zornitza Stark Phenotypes for gene: IRF6 were changed from van der Woude syndrome MIM# 119300 to Popliteal pterygium syndrome 1MIM#119500; van der Woude syndrome MIM#119300
Genomic newborn screening: BabyScreen+ v0.1237 IRF6 Zornitza Stark Classified gene: IRF6 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1237 IRF6 Zornitza Stark Gene: irf6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1236 IRF6 Zornitza Stark reviewed gene: IRF6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Popliteal pterygium syndrome 1MIM#119500, van der Woude syndrome MIM#119300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1236 ISPD Zornitza Stark Marked gene: ISPD as ready
Genomic newborn screening: BabyScreen+ v0.1236 ISPD Zornitza Stark Gene: ispd has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1236 ISPD Zornitza Stark Phenotypes for gene: ISPD were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, MIM# 616052
Genomic newborn screening: BabyScreen+ v0.1235 ISPD Zornitza Stark Classified gene: ISPD as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1235 ISPD Zornitza Stark Gene: ispd has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1234 ISPD Zornitza Stark reviewed gene: ISPD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, MIM# 616052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1234 ITGA3 Zornitza Stark Marked gene: ITGA3 as ready
Genomic newborn screening: BabyScreen+ v0.1234 ITGA3 Zornitza Stark Gene: itga3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1234 ITGA3 Zornitza Stark Classified gene: ITGA3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1234 ITGA3 Zornitza Stark Gene: itga3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1233 ITGA3 Zornitza Stark reviewed gene: ITGA3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1233 ITGB2 Zornitza Stark Marked gene: ITGB2 as ready
Genomic newborn screening: BabyScreen+ v0.1233 ITGB2 Zornitza Stark Gene: itgb2 has been classified as Green List (High Evidence).
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+ v0.1233 ITGB2 Zornitza Stark reviewed gene: ITGB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukocyte adhesion deficiency, MIM# 116920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1233 ITGB4 Zornitza Stark Marked gene: ITGB4 as ready
Genomic newborn screening: BabyScreen+ v0.1233 ITGB4 Zornitza Stark Gene: itgb4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1233 ITGB4 Zornitza Stark Phenotypes for gene: ITGB4 were changed from Epidermolysis bullosa, junctional, with pyloric atresia to Epidermolysis bullosa of hands and feet, MIM# 131800; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650; Epidermolysis bullosa, junctional, with pyloric atresia, MIM# 226730
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+ v0.1231 ITGB4 Zornitza Stark Classified gene: ITGB4 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1231 ITGB4 Zornitza Stark Gene: itgb4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1230 ITGB4 Zornitza Stark reviewed gene: ITGB4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa of hands and feet, MIM# 131800, Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650, Epidermolysis bullosa, junctional, with pyloric atresia, MIM# 226730; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1230 IYD Zornitza Stark Marked gene: IYD as ready
Genomic newborn screening: BabyScreen+ v0.1230 IYD Zornitza Stark Gene: iyd has been classified as Green List (High Evidence).
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+ v0.1230 IYD Zornitza Stark reviewed gene: IYD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid dyshormonogenesis 4, MIM# 274800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1230 HK1 Zornitza Stark Marked gene: HK1 as ready
Genomic newborn screening: BabyScreen+ v0.1230 HK1 Zornitza Stark Gene: hk1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1230 HK1 Zornitza Stark Phenotypes for gene: HK1 were changed from Hemolytic anemia due to hexokinase deficiency; Haemolytic anaemia due to hexokinase deficiency , MIM#235700 to Hyperinsulinism MONDO:0002177, HK1-related
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+ v0.1228 HK1 Zornitza Stark Classified gene: HK1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1228 HK1 Zornitza Stark Gene: hk1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1227 HK1 Zornitza Stark reviewed gene: HK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperinsulinism MONDO:0002177, HK1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1227 JAK3 Zornitza Stark Marked gene: JAK3 as ready
Genomic newborn screening: BabyScreen+ v0.1227 JAK3 Zornitza Stark Gene: jak3 has been classified as Green List (High Evidence).
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+ v0.1227 JAK3 Zornitza Stark reviewed gene: JAK3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: SCID, autosomal recessive, T-negative/B-positive type MIM# 600802; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1227 JAG1 Zornitza Stark Marked gene: JAG1 as ready
Genomic newborn screening: BabyScreen+ v0.1227 JAG1 Zornitza Stark Gene: jag1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1227 JAG1 Zornitza Stark Phenotypes for gene: JAG1 were changed from Alagille syndrome to Alagille syndrome, MIM# 1 118450
Genomic newborn screening: BabyScreen+ v0.1226 JAG1 Zornitza Stark Classified gene: JAG1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1226 JAG1 Zornitza Stark Gene: jag1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1225 JAG1 Zornitza Stark reviewed gene: JAG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alagille syndrome, MIM# 1 118450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1225 KCNJ1 Zornitza Stark Marked gene: KCNJ1 as ready
Genomic newborn screening: BabyScreen+ v0.1225 KCNJ1 Zornitza Stark Gene: kcnj1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1225 KCNJ1 Zornitza Stark Phenotypes for gene: KCNJ1 were changed from Bartter syndrome to Bartter syndrome, type 2, 241200
Genomic newborn screening: BabyScreen+ v0.1224 KCNJ1 Zornitza Stark reviewed gene: KCNJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bartter syndrome, type 2, 241200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1224 KCNA1 Zornitza Stark Marked gene: KCNA1 as ready
Genomic newborn screening: BabyScreen+ v0.1224 KCNA1 Zornitza Stark Gene: kcna1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1224 KCNA1 Zornitza Stark Phenotypes for gene: KCNA1 were changed from Episodic ataxia type 1 to Episodic ataxia/myokymia syndrome, MIM# 160120
Genomic newborn screening: BabyScreen+ v0.1223 KCNA1 Zornitza Stark Classified gene: KCNA1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1223 KCNA1 Zornitza Stark Gene: kcna1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1222 KCNA1 Zornitza Stark reviewed gene: KCNA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Episodic ataxia/myokymia syndrome, MIM# 160120; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1222 KARS Zornitza Stark Marked gene: KARS as ready
Genomic newborn screening: BabyScreen+ v0.1222 KARS Zornitza Stark Gene: kars has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1222 KARS Zornitza Stark Phenotypes for gene: KARS were changed from deafness with progressive leukodystrophy to Leukoencephalopathy with or without deafness (LEPID), MIM#619147; Deafness, autosomal recessive 89, MIM# 613916; Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE), MIM#619196
Genomic newborn screening: BabyScreen+ v0.1221 KARS Zornitza Stark Tag for review tag was added to gene: KARS.
Genomic newborn screening: BabyScreen+ v0.1221 KARS Zornitza Stark reviewed gene: KARS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukoencephalopathy with or without deafness (LEPID), MIM#619147, Deafness, autosomal recessive 89, MIM# 613916, Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE), MIM#619196; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1221 KANSL1 Zornitza Stark Marked gene: KANSL1 as ready
Genomic newborn screening: BabyScreen+ v0.1221 KANSL1 Zornitza Stark Gene: kansl1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1221 KANSL1 Zornitza Stark Phenotypes for gene: KANSL1 were changed from Koolen-De Vries syndrome to Koolen-De Vries syndrome, MIM# 610443
Genomic newborn screening: BabyScreen+ v0.1220 KANSL1 Zornitza Stark Classified gene: KANSL1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1220 KANSL1 Zornitza Stark Gene: kansl1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1219 KANSL1 Zornitza Stark reviewed gene: KANSL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Koolen-De Vries syndrome, MIM# 610443; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1219 KCNJ2 Zornitza Stark Marked gene: KCNJ2 as ready
Genomic newborn screening: BabyScreen+ v0.1219 KCNJ2 Zornitza Stark Gene: kcnj2 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1219 KCNJ2 Zornitza Stark Phenotypes for gene: KCNJ2 were changed from Andersen cardiodysrhythmic periodic paralysis to Andersen syndrome MIM#170390; Atrial fibrillation, familial, 9 MIM#613980; Short QT syndrome 3 MIM#609622
Genomic newborn screening: BabyScreen+ v0.1218 KCNJ2 Zornitza Stark Classified gene: KCNJ2 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1218 KCNJ2 Zornitza Stark Gene: kcnj2 has been classified as Amber List (Moderate Evidence).
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+ v0.1217 KCNJ2 Zornitza Stark reviewed gene: KCNJ2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Andersen syndrome MIM#170390, Atrial fibrillation, familial, 9 MIM#613980, Short QT syndrome 3 MIM#609622; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1217 KCNQ4 Zornitza Stark Marked gene: KCNQ4 as ready
Genomic newborn screening: BabyScreen+ v0.1217 KCNQ4 Zornitza Stark Gene: kcnq4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1217 KCNQ4 Zornitza Stark Phenotypes for gene: KCNQ4 were changed from Deafness, autosomal dominant to Deafness, autosomal dominant 2A, MIM# 600101
Genomic newborn screening: BabyScreen+ v0.1216 KCNQ4 Zornitza Stark Classified gene: KCNQ4 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1216 KCNQ4 Zornitza Stark Gene: kcnq4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1215 KCNQ4 Zornitza Stark reviewed gene: KCNQ4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 2A, MIM# 600101; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1215 KBTBD13 Zornitza Stark Marked gene: KBTBD13 as ready
Genomic newborn screening: BabyScreen+ v0.1215 KBTBD13 Zornitza Stark Gene: kbtbd13 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1215 KBTBD13 Zornitza Stark Phenotypes for gene: KBTBD13 were changed from Nemaline myopathy to Nemaline myopathy 6, autosomal dominant, MIM# 609273; Hereditary motor neuropathy late-onset; limb girdle muscular dystrophy
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+ v0.1213 KBTBD13 Zornitza Stark Classified gene: KBTBD13 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1213 KBTBD13 Zornitza Stark Gene: kbtbd13 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1212 KBTBD13 Zornitza Stark reviewed gene: KBTBD13: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 6, autosomal dominant, MIM# 609273, Hereditary motor neuropathy late-onset, limb girdle muscular dystrophy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1212 KCNT1 Zornitza Stark Marked gene: KCNT1 as ready
Genomic newborn screening: BabyScreen+ v0.1212 KCNT1 Zornitza Stark Gene: kcnt1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1212 KCNT1 Zornitza Stark Classified gene: KCNT1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1212 KCNT1 Zornitza Stark Gene: kcnt1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1211 KCNT1 Zornitza Stark reviewed gene: KCNT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 14, MIM# 614959; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1211 KCTD7 Zornitza Stark Marked gene: KCTD7 as ready
Genomic newborn screening: BabyScreen+ v0.1211 KCTD7 Zornitza Stark Gene: kctd7 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1211 KCTD7 Zornitza Stark Phenotypes for gene: KCTD7 were changed from Epilepsy, progressive myoclonic to Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726)
Genomic newborn screening: BabyScreen+ v0.1210 KCTD7 Zornitza Stark Classified gene: KCTD7 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1210 KCTD7 Zornitza Stark Gene: kctd7 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1209 KCTD7 Zornitza Stark reviewed gene: KCTD7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1209 HGSNAT Zornitza Stark Marked gene: HGSNAT as ready
Genomic newborn screening: BabyScreen+ v0.1209 HGSNAT Zornitza Stark Gene: hgsnat has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1209 HGSNAT Zornitza Stark Phenotypes for gene: HGSNAT were changed from Mucopolysaccharidosis IIIC to Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930
Genomic newborn screening: BabyScreen+ v0.1208 HGSNAT Zornitza Stark Classified gene: HGSNAT as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1208 HGSNAT Zornitza Stark Gene: hgsnat has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1207 HGSNAT Zornitza Stark reviewed gene: HGSNAT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1207 HGF Zornitza Stark Marked gene: HGF as ready
Genomic newborn screening: BabyScreen+ v0.1207 HGF Zornitza Stark Gene: hgf has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1207 HGF Zornitza Stark Phenotypes for gene: HGF were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 39, MIM# 608265
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 HGF Zornitza Stark reviewed gene: HGF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 39, MIM# 608265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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+ v0.1206 HGD Zornitza Stark edited their review of gene: HGD: Changed rating: AMBER
Genomic newborn screening: BabyScreen+ v0.1206 HGD Zornitza Stark reviewed gene: HGD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alkaptonuria MIM#203500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1206 HEXB Zornitza Stark Marked gene: HEXB as ready
Genomic newborn screening: BabyScreen+ v0.1206 HEXB Zornitza Stark Gene: hexb has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1206 HEXB Zornitza Stark Phenotypes for gene: HEXB were changed from Sandhoff disease, infantile, juvenile, and adult forms to Sandhoff disease, infantile, juvenile, and adult forms, MIM# 268800
Genomic newborn screening: BabyScreen+ v0.1205 HEXB Zornitza Stark Classified gene: HEXB as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1205 HEXB Zornitza Stark Gene: hexb has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1204 HEXB Zornitza Stark reviewed gene: HEXB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Sandhoff disease, infantile, juvenile, and adult forms, MIM# 268800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1204 HEXA Zornitza Stark Marked gene: HEXA as ready
Genomic newborn screening: BabyScreen+ v0.1204 HEXA Zornitza Stark Gene: hexa has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1204 HEXA Zornitza Stark Phenotypes for gene: HEXA were changed from Tay-Sachs disease to GM2-gangliosidosis, several forms 272800; Tay-Sachs disease 272800
Genomic newborn screening: BabyScreen+ v0.1203 HEXA Zornitza Stark Classified gene: HEXA as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1203 HEXA Zornitza Stark Gene: hexa has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1202 HEXA Zornitza Stark reviewed gene: HEXA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: GM2-gangliosidosis, several forms 272800, Tay-Sachs disease 272800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1202 HDAC8 Zornitza Stark Marked gene: HDAC8 as ready
Genomic newborn screening: BabyScreen+ v0.1202 HDAC8 Zornitza Stark Gene: hdac8 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1202 HDAC8 Zornitza Stark Phenotypes for gene: HDAC8 were changed from Cornelia de Lange syndrome-like features, ocular hypertelorism & large fontanelle to Cornelia de Lange syndrome 5, MIM# 300882
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+ v0.1200 HDAC8 Zornitza Stark Classified gene: HDAC8 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1200 HDAC8 Zornitza Stark Gene: hdac8 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1199 HDAC8 Zornitza Stark reviewed gene: HDAC8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cornelia de Lange syndrome 5, MIM# 300882; Mode of inheritance: 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+ v0.1199 GJC2 Zornitza Stark Marked gene: GJC2 as ready
Genomic newborn screening: BabyScreen+ v0.1199 GJC2 Zornitza Stark Gene: gjc2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1199 GJC2 Zornitza Stark Phenotypes for gene: GJC2 were changed from Pelizaeus-Merzbacher-like disease to Spastic paraplegia 44, autosomal recessive MIM#613206; Leukodystrophy, hypomyelinating, 2 MIM#608804; Lymphatic malformation 3 MIM#613480
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+ v0.1197 GJC2 Zornitza Stark Classified gene: GJC2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1197 GJC2 Zornitza Stark Gene: gjc2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1196 GJC2 Zornitza Stark reviewed gene: GJC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 44, autosomal recessive MIM#613206, Leukodystrophy, hypomyelinating, 2 MIM#608804, Lymphatic malformation 3 MIM#613480; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1196 GJB1 Zornitza Stark Marked gene: GJB1 as ready
Genomic newborn screening: BabyScreen+ v0.1196 GJB1 Zornitza Stark Gene: gjb1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1196 GJB1 Zornitza Stark Phenotypes for gene: GJB1 were changed from Charcot-Marie-Tooth neuropathy to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM# 302800
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+ v0.1194 GJB1 Zornitza Stark Classified gene: GJB1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1194 GJB1 Zornitza Stark Gene: gjb1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1193 GJB1 Zornitza Stark reviewed gene: GJB1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM# 302800; Mode of inheritance: 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+ v0.1193 GIF Zornitza Stark Marked gene: GIF as ready
Genomic newborn screening: BabyScreen+ v0.1193 GIF Zornitza Stark Gene: gif has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1193 GIF Zornitza Stark Phenotypes for gene: GIF were changed from Intrinsic factor deficiency, MIM# 261000; Intrinsic factor deficiency # 261000 to Intrinsic factor deficiency, MIM# 261000
Genomic newborn screening: BabyScreen+ v0.1192 GIF Zornitza Stark Publications for gene: GIF were set to
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 GIF Zornitza Stark reviewed gene: GIF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intrinsic factor deficiency MIM#261000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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 SLC16A1 Zornitza Stark reviewed gene: SLC16A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Monocarboxylate transporter 1 deficiency, MIM# 616095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1190 SLC13A5 Zornitza Stark Marked gene: SLC13A5 as ready
Genomic newborn screening: BabyScreen+ v0.1190 SLC13A5 Zornitza Stark Gene: slc13a5 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1190 SLC13A5 Zornitza Stark reviewed gene: SLC13A5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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+ v0.1190 TNFRSF11A Zornitza Stark Marked gene: TNFRSF11A as ready
Genomic newborn screening: BabyScreen+ v0.1190 TNFRSF11A Zornitza Stark Gene: tnfrsf11a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1190 TNFRSF11A Zornitza Stark Publications for gene: TNFRSF11A were set to
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+ v0.1189 TNFRSF11B Zornitza Stark Marked gene: TNFRSF11B as ready
Genomic newborn screening: BabyScreen+ v0.1189 TNFRSF11B Zornitza Stark Gene: tnfrsf11b has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1189 TNFRSF11B Zornitza Stark Phenotypes for gene: TNFRSF11B were changed from Paget disease to Paget disease of bone 5, juvenile-onset MIM#239000
Genomic newborn screening: BabyScreen+ v0.1188 TNFRSF11B Zornitza Stark Publications for gene: TNFRSF11B were set to
Genomic newborn screening: BabyScreen+ v0.1187 TNFRSF11B Zornitza Stark Classified gene: TNFRSF11B as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1187 TNFRSF11B Zornitza Stark Gene: tnfrsf11b has been classified as Amber List (Moderate Evidence).
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+ v0.1186 TNFSF11 Zornitza Stark Marked gene: TNFSF11 as ready
Genomic newborn screening: BabyScreen+ v0.1186 TNFSF11 Zornitza Stark Gene: tnfsf11 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1186 TNFSF11 Zornitza Stark Phenotypes for gene: TNFSF11 were changed from Osteopetrosis, autosomal recessive 2 to Osteopetrosis, autosomal recessive 2 MIM#259710
Genomic newborn screening: BabyScreen+ v0.1185 TNFSF11 Zornitza Stark Publications for gene: TNFSF11 were set to
Genomic newborn screening: BabyScreen+ v0.1184 TNFSF11 Zornitza Stark Classified gene: TNFSF11 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1184 TNFSF11 Zornitza Stark Gene: tnfsf11 has been classified as Amber List (Moderate Evidence).
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+ v0.1183 TNFSF11 Zornitza Stark reviewed gene: TNFSF11: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 2 MIM#259710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1183 TNNI2 Zornitza Stark Marked gene: TNNI2 as ready
Genomic newborn screening: BabyScreen+ v0.1183 TNNI2 Zornitza Stark Gene: tnni2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1183 TNNI2 Zornitza Stark Phenotypes for gene: TNNI2 were changed from Distal arthrogryposis syndrome 2b to Arthrogryposis, distal, type 2B1 MIM#601680
Genomic newborn screening: BabyScreen+ v0.1182 TNNI2 Zornitza Stark Publications for gene: TNNI2 were set to
Genomic newborn screening: BabyScreen+ v0.1181 TNNI2 Zornitza Stark Classified gene: TNNI2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1181 TNNI2 Zornitza Stark Gene: tnni2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1180 TNNT1 Zornitza Stark Marked gene: TNNT1 as ready
Genomic newborn screening: BabyScreen+ v0.1180 TNNT1 Zornitza Stark Gene: tnnt1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1180 TNNT1 Zornitza Stark Phenotypes for gene: TNNT1 were changed from Nemaline myopathy, Amish type to Nemaline myopathy 5, Amish type MIM#605355
Genomic newborn screening: BabyScreen+ v0.1179 TNNT1 Zornitza Stark Publications for gene: TNNT1 were set to
Genomic newborn screening: BabyScreen+ v0.1178 TNNT1 Zornitza Stark Classified gene: TNNT1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1178 TNNT1 Zornitza Stark Gene: tnnt1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1177 TNNT1 Zornitza Stark reviewed gene: TNNT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 5, Amish type MIM#605355; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1177 TNNT3 Zornitza Stark Marked gene: TNNT3 as ready
Genomic newborn screening: BabyScreen+ v0.1177 TNNT3 Zornitza Stark Gene: tnnt3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1177 TNNT3 Zornitza Stark Phenotypes for gene: TNNT3 were changed from Arthyrgryposis, distal to Arthrogryposis, distal MIM#618435
Genomic newborn screening: BabyScreen+ v0.1176 TNNT3 Zornitza Stark Publications for gene: TNNT3 were set to
Genomic newborn screening: BabyScreen+ v0.1175 TNNT3 Zornitza Stark Classified gene: TNNT3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1175 TNNT3 Zornitza Stark Gene: tnnt3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1174 TP53 Zornitza Stark Marked gene: TP53 as ready
Genomic newborn screening: BabyScreen+ v0.1174 TP53 Zornitza Stark Gene: tp53 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1174 TP53 Zornitza Stark Phenotypes for gene: TP53 were changed from Li-Fraumeni syndrome to Li-Fraumeni syndrome MIM#151623
Genomic newborn screening: BabyScreen+ v0.1173 TP53 Zornitza Stark Publications for gene: TP53 were set to
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+ v0.1172 TPM2 Zornitza Stark Marked gene: TPM2 as ready
Genomic newborn screening: BabyScreen+ v0.1172 TPM2 Zornitza Stark Gene: tpm2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1172 TPM2 Zornitza Stark Phenotypes for gene: TPM2 were changed from Nemaline myopathy; Arthrogryposis multiplex congenita, distal to Arthrgryposis MIM#108120; Nemaline myopathy MIM#609285
Genomic newborn screening: BabyScreen+ v0.1171 TPM2 Zornitza Stark Publications for gene: TPM2 were set to
Genomic newborn screening: BabyScreen+ v0.1170 TPM2 Zornitza Stark Classified gene: TPM2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1170 TPM2 Zornitza Stark Gene: tpm2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1169 TPM3 Zornitza Stark Marked gene: TPM3 as ready
Genomic newborn screening: BabyScreen+ v0.1169 TPM3 Zornitza Stark Gene: tpm3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1169 TPM3 Zornitza Stark Phenotypes for gene: TPM3 were changed from Nemaline myopathy; Congenital fiber-type disproportion myopathy to CAP myopathy 1, MIM# 609284; Myopathy, congenital, with fiber-type disproportion, MIM# 255310; Nemaline myopathy 1, autosomal dominant or recessive, MIM# 609284
Genomic newborn screening: BabyScreen+ v0.1168 TPM3 Zornitza Stark Publications for gene: TPM3 were set to
Genomic newborn screening: BabyScreen+ v0.1167 TPM3 Zornitza Stark Classified gene: TPM3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1167 TPM3 Zornitza Stark Gene: tpm3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1166 SLC26A3 Seb Lunke Marked gene: SLC26A3 as ready
Genomic newborn screening: BabyScreen+ v0.1166 SLC26A3 Seb Lunke Gene: slc26a3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1166 SLC26A3 Seb Lunke Phenotypes for gene: SLC26A3 were changed from Chloride diarrhea, congenital, Finnish type to Diarrhoea 1, secretory chloride, congenital, MIM# 214700
Genomic newborn screening: BabyScreen+ v0.1165 SLC26A3 Seb Lunke reviewed gene: SLC26A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diarrhoea 1, secretory chloride, congenital, MIM# 214700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1165 SLC26A2 Seb Lunke Marked gene: SLC26A2 as ready
Genomic newborn screening: BabyScreen+ v0.1165 SLC26A2 Seb Lunke Gene: slc26a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1165 SLC26A2 Seb Lunke Tag for review tag was added to gene: SLC26A2.
Genomic newborn screening: BabyScreen+ v0.1165 SLC26A2 Seb Lunke Phenotypes for gene: SLC26A2 were changed from Achondrogenesis 1B to Achondrogenesis 1B, MIM#600972
Genomic newborn screening: BabyScreen+ v0.1164 SLC26A2 Seb Lunke Classified gene: SLC26A2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1164 SLC26A2 Seb Lunke Gene: slc26a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1163 SLC26A2 Seb Lunke reviewed gene: SLC26A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Achondrogenesis 1B, MIM#600972; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1163 SLC25A4 Seb Lunke Marked gene: SLC25A4 as ready
Genomic newborn screening: BabyScreen+ v0.1163 SLC25A4 Seb Lunke Gene: slc25a4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1163 SLC25A4 Seb Lunke Phenotypes for gene: SLC25A4 were changed from Progressive external ophthalmoplegia to Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418
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+ v0.1161 SLC25A4 Seb Lunke Classified gene: SLC25A4 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1161 SLC25A4 Seb Lunke Gene: slc25a4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1160 SLC25A4 Seb Lunke reviewed gene: SLC25A4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1160 SLC16A1 Seb Lunke Marked gene: SLC16A1 as ready
Genomic newborn screening: BabyScreen+ v0.1160 SLC16A1 Seb Lunke Gene: slc16a1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1160 SLC16A1 Seb Lunke Publications for gene: SLC16A1 were set to
Genomic newborn screening: BabyScreen+ v0.1159 SLC16A1 Seb Lunke Tag for review tag was added to gene: SLC16A1.
Genomic newborn screening: BabyScreen+ v0.1159 SLC16A1 Seb Lunke Classified gene: SLC16A1 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1159 SLC16A1 Seb Lunke Gene: slc16a1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1158 SLC16A1 Seb Lunke reviewed gene: SLC16A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301549; Phenotypes: Monocarboxylate transporter 1 deficiency, MIM# 616095; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1158 SLC13A5 Seb Lunke Classified gene: SLC13A5 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1158 SLC13A5 Seb Lunke Gene: slc13a5 has been classified as Amber List (Moderate Evidence).
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+ v0.1156 SLC25A38 Seb Lunke Marked gene: SLC25A38 as ready
Genomic newborn screening: BabyScreen+ v0.1156 SLC25A38 Seb Lunke Gene: slc25a38 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1156 SLC25A38 Seb Lunke Phenotypes for gene: SLC25A38 were changed from Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive to Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950
Genomic newborn screening: BabyScreen+ v0.1155 SLC25A38 Seb Lunke reviewed gene: SLC25A38: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1155 SLC25A20 Seb Lunke Marked gene: SLC25A20 as ready
Genomic newborn screening: BabyScreen+ v0.1155 SLC25A20 Seb Lunke Gene: slc25a20 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1155 SLC25A20 Seb Lunke Publications for gene: SLC25A20 were set to
Genomic newborn screening: BabyScreen+ v0.1154 SLC25A20 Seb Lunke reviewed gene: SLC25A20: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Carnitine-acylcarnitine translocase deficiency, MIM# 212138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1154 TNFRSF11A Lilian Rudd edited their review of gene: TNFRSF11A: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.1154 TNFRSF11A Lilian Rudd changed review comment from: strong gene disease association
Infant onset osteopetrosis and immunodeficiency
No treatment



NB AD phenotype has later onset; to: strong gene disease association
Infant onset osteopetrosis and immunodeficiency
Treatment bone marrow transplant



NB AD phenotype has later onset
Genomic newborn screening: BabyScreen+ v0.1154 TNFSF11 Lilian Rudd changed review comment from: Strong gene disease association (gene also known as RANKL)
Infant, early childhood onset increased bone density, lack of bone marrow cavity, stunted growth, macrocephaly, progressive deafness, blindness, hepatosplenomegaly, and severe anemia.
No treatment; to: Strong gene disease association (gene also known as RANKL)
Infant, early childhood onset increased bone density, lack of bone marrow cavity, stunted growth, macrocephaly, progressive deafness, blindness, hepatosplenomegaly, and severe anemia.
No treatment
Genomic newborn screening: BabyScreen+ v0.1154 TNFRSF11A Lilian Rudd reviewed gene: TNFRSF11A: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 36031188, PMID: 35812760; Phenotypes: Osteopetrosis, autosomal recessive 7 - MIM# 612301; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1154 TNFRSF11B Lilian Rudd reviewed gene: TNFRSF11B: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 25108083, PMID: 34166796, PMID: 29080812; Phenotypes: Paget disease of bone 5, juvenile-onset MIM#239000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1154 TNFSF11 Lilian Rudd edited their review of gene: TNFSF11: Changed rating: RED
Genomic newborn screening: BabyScreen+ v0.1154 TNFSF11 Lilian Rudd reviewed gene: TNFSF11: Rating: ; Mode of pathogenicity: None; Publications: PMID:17632511, PMID: 36031188, PMID: 32940787; Phenotypes: Osteopetrosis, autosomal recessive 2 MIM#259710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1154 TNNI2 Lilian Rudd reviewed gene: TNNI2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 34502093; Phenotypes: Arthrogryposis, distal, type 2B1 MIM#601680; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1154 TNNT1 Lilian Rudd reviewed gene: TNNT1: Rating: ; Mode of pathogenicity: None; Publications: PMID: 29931346, 10952871; Phenotypes: Nemaline myopathy 5, Amish type MIM#605355; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1154 TNNT3 Lilian Rudd reviewed gene: TNNT3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 19309503; Phenotypes: Arthrogryposis, distal MIM#618435; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1154 TP53 Lilian Rudd reviewed gene: TP53: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28572266; Phenotypes: Li-Fraumeni syndrome MIM#151623; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1154 TPM2 Lilian Rudd reviewed gene: TPM2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 27726070; Phenotypes: Arthrgryposis MIM#108120, Nemaline myopathy MIM#609285; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1154 TPM3 Lilian Rudd reviewed gene: TPM3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 26307083,PMID: 35668205; Phenotypes: Myopathy 255310, 609284, 609284; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1154 HCFC1 John Christodoulou reviewed gene: HCFC1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301503, PMID: 26893841, PMID: 35337626; Phenotypes: nonimmune hydrops, cardiomyopathy, intrauterine growth restriction, microcephaly, global dev delay, ID, seizures; Mode of inheritance: 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+ v0.1154 HADH John Christodoulou reviewed gene: HADH: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16176262, PMID: 20936362; Phenotypes: hypoketotic hypoglycaemia, hyperinsulinism, fatty liver; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1154 GYS2 John Christodoulou reviewed gene: GYS2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33489759; Phenotypes: fasting hypoglycaemia, hepatomegaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1154 GUSB John Christodoulou reviewed gene: GUSB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31661765, PMID: 32063397; Phenotypes: facial dysmorphisms, skeletal deformities, cardiac valve involvement, ocular involvement, motor delay, developmental delay, ID; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1154 GRHPR John Christodoulou reviewed gene: GRHPR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301742; Phenotypes: nephrolithiasis, haematuria, renal colic, obstruction of the urinary tract, Nephrocalcinosis, End-stage renal disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1154 GOT2 John Christodoulou reviewed gene: GOT2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31422819, PMID: 33990986; Phenotypes: neonatal hypotonia, feeding difficulties, global developmental delay, severe ID, infantile seizures, absent speech, spastic tetraplegia, microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1154 GNS John Christodoulou reviewed gene: GNS: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 31536183; Phenotypes: ID, Coarse facies, Thick hair and hirsutism, Hepatosplenomegaly, Joint stiffness, Hearing loss, Frequent upper-respiratory and ear infections, Inguinal and/or umbilical hernias; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1154 GNPTG John Christodoulou reviewed gene: GNPTG: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301784; Phenotypes: Growth rate deceleration, Joint stiffness of the fingers, shoulders, and hips, Gradual mild coarsening of facial features, Genu valgum, scoliosis, hyperlordosis, mitral valve thickening; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1154 SLC25A19 Zornitza Stark Marked gene: SLC25A19 as ready
Genomic newborn screening: BabyScreen+ v0.1154 SLC25A19 Zornitza Stark Gene: slc25a19 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1154 SLC25A19 Zornitza Stark Classified gene: SLC25A19 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1154 SLC25A19 Zornitza Stark Gene: slc25a19 has been classified as Green List (High Evidence).
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 SLC25A19 Zornitza Stark reviewed gene: SLC25A19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), MIM#613710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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+ v0.1153 SLC25A13 Zornitza Stark Publications for gene: SLC25A13 were set to
Genomic newborn screening: BabyScreen+ v0.1152 SLC25A13 Zornitza Stark Classified gene: SLC25A13 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1152 SLC25A13 Zornitza Stark Gene: slc25a13 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1151 SLC25A13 Zornitza Stark reviewed gene: SLC25A13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Citrullinemia, type II, neonatal-onset, MIM# 605814; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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 TSHR Zornitza Stark reviewed gene: TSHR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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+ v0.1151 COL11A1 Zornitza Stark changed review comment from: Mono-allelic variants in this gene cause Stickler syndrome, as well as isolated post-lingual deafness, and the rare Marshall syndrome.

There is some genotype-phenotype correlation.

Treatment: ocular surveillance and surgery to prevent retinal detachment

For review; to: Mono-allelic variants in this gene cause Stickler syndrome, as well as isolated post-lingual deafness, and the rare Marshall syndrome.

There is some genotype-phenotype correlation.

Treatment: ocular surveillance and surgery to prevent retinal detachment. Usually after age 2-3 years.

Discussed with ophthalmology: would start glaucoma surveillance in first year of life.
Genomic newborn screening: BabyScreen+ v0.1151 COL2A1 Zornitza Stark changed review comment from: Variants in this gene are associated with a range of skeletal phenotypes.

Onset and severity can be variable.

Treatment: surveillance and prophylactic retinal laser treatment to prevent retinal detachment.

For review.; to: Variants in this gene are associated with a range of skeletal phenotypes.

Onset and severity can be variable.

Treatment: surveillance and prophylactic retinal laser treatment to prevent retinal detachment. This is usually after the age of 2-3 years.

Discussed with ophthalmology, would start glaucoma surveillance in the first year of life.
Genomic newborn screening: BabyScreen+ v0.1151 SLC25A15 Seb Lunke Marked gene: SLC25A15 as ready
Genomic newborn screening: BabyScreen+ v0.1151 SLC25A15 Seb Lunke Gene: slc25a15 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1151 SLC25A15 Seb Lunke Publications for gene: SLC25A15 were set to
Genomic newborn screening: BabyScreen+ v0.1150 SLC25A15 Seb Lunke reviewed gene: SLC25A15: Rating: ; Mode of pathogenicity: None; Publications: 22649802; Phenotypes: Hyperornithinaemia-hyperammonaemia-homocitrullinaemia syndrome , MIM#238970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1150 SLC25A13 Seb Lunke Marked gene: SLC25A13 as ready
Genomic newborn screening: BabyScreen+ v0.1150 SLC25A13 Seb Lunke Gene: slc25a13 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1150 SLC25A13 Seb Lunke Phenotypes for gene: SLC25A13 were changed from Citrullinemia, MIM#605814 to Citrullinemia, type II, neonatal-onset, MIM# 605814
Genomic newborn screening: BabyScreen+ v0.1149 SLC25A13 Seb Lunke Classified gene: SLC25A13 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1149 SLC25A13 Seb Lunke Gene: slc25a13 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1148 SLC25A13 Seb Lunke Tag for review tag was added to gene: SLC25A13.
Genomic newborn screening: BabyScreen+ v0.1148 SLC25A13 Seb Lunke reviewed gene: SLC25A13: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301360; Phenotypes: Citrullinemia, type II, neonatal-onset, MIM# 605814; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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+ v0.1147 HAX1 Zornitza Stark Marked gene: HAX1 as ready
Genomic newborn screening: BabyScreen+ v0.1147 HAX1 Zornitza Stark Gene: hax1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1147 HAX1 Zornitza Stark Phenotypes for gene: HAX1 were changed from Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738 to Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738; Kostmann syndrome MONDO:0012548
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+ v0.1146 HAX1 Zornitza Stark reviewed gene: HAX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738, Kostmann syndrome MONDO:0012548; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1146 HARS2 Zornitza Stark Marked gene: HARS2 as ready
Genomic newborn screening: BabyScreen+ v0.1146 HARS2 Zornitza Stark Gene: hars2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1146 HARS2 Zornitza Stark Phenotypes for gene: HARS2 were changed from Perrault syndrome; autosomal recessive sensorineural hearing loss to Perrault syndrome 2, MIM# 614926
Genomic newborn screening: BabyScreen+ v0.1145 HARS2 Zornitza Stark Classified gene: HARS2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1145 HARS2 Zornitza Stark Gene: hars2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1144 HARS2 Zornitza Stark reviewed gene: HARS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Perrault syndrome 2, MIM# 614926; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1144 TRIM32 Zornitza Stark Marked gene: TRIM32 as ready
Genomic newborn screening: BabyScreen+ v0.1144 TRIM32 Zornitza Stark Gene: trim32 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1144 TRIM32 Zornitza Stark Phenotypes for gene: TRIM32 were changed from Muscular dystrophy, limb-girdle, type 2H to Muscular dystrophy, limb-girdle, autosomal recessive 8 MIM#254110
Genomic newborn screening: BabyScreen+ v0.1143 TRIM32 Zornitza Stark Publications for gene: TRIM32 were set to
Genomic newborn screening: BabyScreen+ v0.1142 TRIM32 Zornitza Stark Classified gene: TRIM32 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1142 TRIM32 Zornitza Stark Gene: trim32 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1141 TREX1 Zornitza Stark reviewed gene: TREX1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 1 MIM#225750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1141 TREX1 Zornitza Stark Marked gene: TREX1 as ready
Genomic newborn screening: BabyScreen+ v0.1141 TREX1 Zornitza Stark Gene: trex1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1141 TREX1 Zornitza Stark Phenotypes for gene: TREX1 were changed from Aicardi-Goutieres syndrome 1 to Aicardi-Goutieres syndrome 1 MIM#225750
Genomic newborn screening: BabyScreen+ v0.1140 TREX1 Zornitza Stark Publications for gene: TREX1 were set to
Genomic newborn screening: BabyScreen+ v0.1139 TREX1 Zornitza Stark Classified gene: TREX1 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1139 TREX1 Zornitza Stark Gene: trex1 has been classified as Amber List (Moderate Evidence).
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+ v0.1138 TRAPPC2 Zornitza Stark Marked gene: TRAPPC2 as ready
Genomic newborn screening: BabyScreen+ v0.1138 TRAPPC2 Zornitza Stark Gene: trappc2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1138 TRAPPC2 Zornitza Stark Phenotypes for gene: TRAPPC2 were changed from Spondyloepiphyseal dysplasia tarda to Spondyloepiphyseal dysplasia tarda MIM#313400
Genomic newborn screening: BabyScreen+ v0.1137 TRAPPC2 Zornitza Stark Publications for gene: TRAPPC2 were set to
Genomic newborn screening: BabyScreen+ v0.1136 TRAPPC2 Zornitza Stark Classified gene: TRAPPC2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1136 TRAPPC2 Zornitza Stark Gene: trappc2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1135 TPP1 Zornitza Stark Marked gene: TPP1 as ready
Genomic newborn screening: BabyScreen+ v0.1135 TPP1 Zornitza Stark Gene: tpp1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1135 TPP1 Zornitza Stark Phenotypes for gene: TPP1 were changed from Neuronal ceroid lipofuscinosis to Ceroid lipofuscinosis, neuronal, 2 MIM#204500 (Batten disease)
Genomic newborn screening: BabyScreen+ v0.1134 TPP1 Zornitza Stark Publications for gene: TPP1 were set to
Genomic newborn screening: BabyScreen+ v0.1133 TPO Zornitza Stark Marked gene: TPO as ready
Genomic newborn screening: BabyScreen+ v0.1133 TPO Zornitza Stark Gene: tpo has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1133 TPO Zornitza Stark Phenotypes for gene: TPO were changed from Thyroid dyshormonogenesis 2A to Thyroid dyshormonogenesis 2A MIM#274500
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+ v0.1132 HADH Zornitza Stark Marked gene: HADH as ready
Genomic newborn screening: BabyScreen+ v0.1132 HADH Zornitza Stark Gene: hadh has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1132 HADH Zornitza Stark Phenotypes for gene: HADH were changed from Hyperinsulinemic hypoglycemia, familial, 4, MIM#609975 to 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530
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 HADH Zornitza Stark reviewed gene: HADH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1131 GOT2 Zornitza Stark Marked gene: GOT2 as ready
Genomic newborn screening: BabyScreen+ v0.1131 GOT2 Zornitza Stark Gene: got2 has been classified as Green List (High Evidence).
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+ v0.1131 GOT2 Zornitza Stark reviewed gene: GOT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 82, MIM# 618721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1131 GPC3 Zornitza Stark Marked gene: GPC3 as ready
Genomic newborn screening: BabyScreen+ v0.1131 GPC3 Zornitza Stark Gene: gpc3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1131 GPC3 Zornitza Stark Phenotypes for gene: GPC3 were changed from Simpson-Golabi-Behmel syndrome to Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870
Genomic newborn screening: BabyScreen+ v0.1130 GPC3 Zornitza Stark Classified gene: GPC3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1130 GPC3 Zornitza Stark Gene: gpc3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1129 GPC3 Zornitza Stark reviewed gene: GPC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1129 GPR143 Zornitza Stark Marked gene: GPR143 as ready
Genomic newborn screening: BabyScreen+ v0.1129 GPR143 Zornitza Stark Gene: gpr143 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1129 GPR143 Zornitza Stark Phenotypes for gene: GPR143 were changed from Ocular albinism, type I to Ocular albinism, type I, Nettleship-Falls type, MIM# 300500
Genomic newborn screening: BabyScreen+ v0.1128 GPR143 Zornitza Stark Classified gene: GPR143 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1128 GPR143 Zornitza Stark Gene: gpr143 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1127 GPR143 Zornitza Stark reviewed gene: GPR143: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ocular albinism, type I, Nettleship-Falls type, MIM# 300500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1127 GPSM2 Zornitza Stark Marked gene: GPSM2 as ready
Genomic newborn screening: BabyScreen+ v0.1127 GPSM2 Zornitza Stark Gene: gpsm2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1127 GPSM2 Zornitza Stark Phenotypes for gene: GPSM2 were changed from Chudley-McCullough syndrome to Chudley-McCullough syndrome MIM#604213
Genomic newborn screening: BabyScreen+ v0.1126 GPSM2 Zornitza Stark Classified gene: GPSM2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1126 GPSM2 Zornitza Stark Gene: gpsm2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1125 GPSM2 Zornitza Stark reviewed gene: GPSM2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Chudley-McCullough syndrome MIM#604213; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1125 GRHL2 Zornitza Stark Marked gene: GRHL2 as ready
Genomic newborn screening: BabyScreen+ v0.1125 GRHL2 Zornitza Stark Gene: grhl2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1125 GRHL2 Zornitza Stark Phenotypes for gene: GRHL2 were changed from Autosomal dominant hearing loss, MIM# 608641 to Ectodermal dysplasia/short stature syndrome MIM#616029; Corneal dystrophy, posterior polymorphous, 4, MIM# 618031; Deafness, autosomal dominant 28, MIM# 608641
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+ v0.1123 GRHL2 Zornitza Stark Classified gene: GRHL2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1123 GRHL2 Zornitza Stark Gene: grhl2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1122 GRHL2 Zornitza Stark reviewed gene: GRHL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ectodermal dysplasia/short stature syndrome MIM#616029, Corneal dystrophy, posterior polymorphous, 4, MIM# 618031, Deafness, autosomal dominant 28, MIM# 608641; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1122 GRHPR Zornitza Stark Phenotypes for gene: GRHPR were changed from Hyperoxaluria, primary, type II to Hyperoxaluria, primary, type II, MIM# 260000
Genomic newborn screening: BabyScreen+ v0.1121 TPO Lilian Rudd reviewed gene: TPO: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 15863666; Phenotypes: Thyroid dyshormonogenesis 2A MIM#274500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1121 TPP1 Lilian Rudd reviewed gene: TPP1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32684372, PMID: 31884868, PMID: 30470609, PMID: 33882967; Phenotypes: Ceroid lipofuscinosis, neuronal, 2 MIM#204500 (Batten disease); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1121 TRAPPC2 Lilian Rudd reviewed gene: TRAPPC2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301324; Phenotypes: Spondyloepiphyseal dysplasia tarda MIM#313400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1121 TREX1 Lilian Rudd reviewed gene: TREX1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 20301648, PMID: 32877590; Phenotypes: Aicardi-Goutieres syndrome 1 MIM#225750; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1121 TRIM32 Lilian Rudd reviewed gene: TRIM32: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 21496629, PMID: 23142638; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 8 MIM#254110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1121 GRHPR Zornitza Stark Marked gene: GRHPR as ready
Genomic newborn screening: BabyScreen+ v0.1121 GRHPR Zornitza Stark Gene: grhpr has been classified as Green List (High Evidence).
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+ v0.1121 GRHPR Zornitza Stark reviewed gene: GRHPR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperoxaluria, primary, type II, MIM# 260000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1121 GRXCR1 Zornitza Stark Marked gene: GRXCR1 as ready
Genomic newborn screening: BabyScreen+ v0.1121 GRXCR1 Zornitza Stark Gene: grxcr1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1121 GRXCR1 Zornitza Stark edited their review of gene: GRXCR1: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.1121 GRXCR1 Zornitza Stark reviewed gene: GRXCR1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 25, MIM# 613285; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1121 GSS Zornitza Stark Marked gene: GSS as ready
Genomic newborn screening: BabyScreen+ v0.1121 GSS Zornitza Stark Gene: gss has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1121 GSS Zornitza Stark Phenotypes for gene: GSS were changed from Glutathione synthetase deficiency to Glutathione synthetase deficiency, MIM# 266130; Haemolytic anemia due to glutathione synthetase deficiency 231900
Genomic newborn screening: BabyScreen+ v0.1120 GSS Zornitza Stark Classified gene: GSS as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1120 GSS Zornitza Stark Gene: gss has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1119 GSS Zornitza Stark reviewed gene: GSS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutathione synthetase deficiency, MIM# 266130, Haemolytic anemia due to glutathione synthetase deficiency 231900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1119 GUSB Zornitza Stark Marked gene: GUSB as ready
Genomic newborn screening: BabyScreen+ v0.1119 GUSB Zornitza Stark Gene: gusb has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1119 GCM2 Zornitza Stark Marked gene: GCM2 as ready
Genomic newborn screening: BabyScreen+ v0.1119 GCM2 Zornitza Stark Gene: gcm2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1119 GCM2 Zornitza Stark Classified gene: GCM2 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1119 GCM2 Zornitza Stark Gene: gcm2 has been classified as Green List (High Evidence).
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+ v0.1117 GUSB Zornitza Stark reviewed gene: GUSB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis VII, MIM# 253220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1117 GYS2 Zornitza Stark Marked gene: GYS2 as ready
Genomic newborn screening: BabyScreen+ v0.1117 GYS2 Zornitza Stark Gene: gys2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1117 GYS2 Zornitza Stark Phenotypes for gene: GYS2 were changed from Glycogen storage disease 0 to Glycogen storage disease 0, liver (MIM#240600)
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 reviewed gene: GYS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease 0, liver (MIM#240600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1116 GYS2 Zornitza Stark Tag treatable tag was added to gene: GYS2.
Genomic newborn screening: BabyScreen+ v0.1116 GNPTAB Zornitza Stark Marked gene: GNPTAB as ready
Genomic newborn screening: BabyScreen+ v0.1116 GNPTAB Zornitza Stark Gene: gnptab has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1116 GNPTAB Zornitza Stark Phenotypes for gene: GNPTAB were changed from Mucolipidosis II to Mucolipidosis II alpha/beta, MIM# 252500, MONDO:0009650; Mucolipidosis III alpha/beta, MIM# 252600, MONDO:0018931
Genomic newborn screening: BabyScreen+ v0.1115 GNPTAB Zornitza Stark Classified gene: GNPTAB as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1115 GNPTAB Zornitza Stark Gene: gnptab has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1114 GNPTAB Zornitza Stark edited their review of gene: GNPTAB: Changed rating: RED
Genomic newborn screening: BabyScreen+ v0.1114 GNPTAB Zornitza Stark reviewed gene: GNPTAB: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucolipidosis II alpha/beta, MIM# 252500, MONDO:0009650, Mucolipidosis III alpha/beta, MIM# 252600, MONDO:0018931; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1114 GNE Zornitza Stark Marked gene: GNE as ready
Genomic newborn screening: BabyScreen+ v0.1114 GNE Zornitza Stark Added comment: Comment when marking as ready: Check age of onset with neurology.
Genomic newborn screening: BabyScreen+ v0.1114 GNE Zornitza Stark Gene: gne has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1114 GNE Zornitza Stark Phenotypes for gene: GNE were changed from Inclusion body myopathy to Nonaka myopathy, MIM# 605820
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+ v0.1113 GNE Zornitza Stark Classified gene: GNE as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1113 GNE Zornitza Stark Gene: gne has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1112 GNE Zornitza Stark Classified gene: GNE as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1112 GNE Zornitza Stark Gene: gne has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1111 GNE Zornitza Stark reviewed gene: GNE: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nonaka myopathy, MIM# 605820; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1111 GJA1 Zornitza Stark Marked gene: GJA1 as ready
Genomic newborn screening: BabyScreen+ v0.1111 GJA1 Zornitza Stark Gene: gja1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1111 GJA1 Zornitza Stark Phenotypes for gene: GJA1 were changed from Oculodentodigital dysplasia to Oculodentodigital dysplasia, autosomal recessive, MIM# 257850; Oculodentodigital dysplasia, MIM# 164200
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+ v0.1109 GJA1 Zornitza Stark Classified gene: GJA1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1109 GJA1 Zornitza Stark Gene: gja1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1108 GJA1 Zornitza Stark reviewed gene: GJA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Oculodentodigital dysplasia, autosomal recessive, MIM# 257850, Oculodentodigital dysplasia, MIM# 164200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1108 GIPC3 Zornitza Stark Marked gene: GIPC3 as ready
Genomic newborn screening: BabyScreen+ v0.1108 GIPC3 Zornitza Stark Gene: gipc3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1108 GIPC3 Zornitza Stark Phenotypes for gene: GIPC3 were changed from Hearing loss to Deafness, autosomal recessive 15, MIM# 601869
Genomic newborn screening: BabyScreen+ v0.1107 GIPC3 Zornitza Stark reviewed gene: GIPC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 15, MIM# 601869; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1107 GLI3 Zornitza Stark Marked gene: GLI3 as ready
Genomic newborn screening: BabyScreen+ v0.1107 GLI3 Zornitza Stark Gene: gli3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1107 GLI3 Zornitza Stark Phenotypes for gene: GLI3 were changed from Greig cephalopolysyndactyly syndrome to Polydactyly, postaxial, types A1 and B, MIM#174200; Greig cephalopolysyndactyly syndrome MIM#175700; Polydactyly, preaxial, type IV MIM#174700; Pallister-Hall syndrome MIM#146510
Genomic newborn screening: BabyScreen+ v0.1106 GLI3 Zornitza Stark Classified gene: GLI3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1106 GLI3 Zornitza Stark Gene: gli3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1105 GLI3 Zornitza Stark reviewed gene: GLI3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Polydactyly, postaxial, types A1 and B, MIM#174200, Greig cephalopolysyndactyly syndrome MIM#175700, Polydactyly, preaxial, type IV MIM#174700, Pallister-Hall syndrome MIM#146510; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1105 CRLF1 Zornitza Stark Marked gene: CRLF1 as ready
Genomic newborn screening: BabyScreen+ v0.1105 CRLF1 Zornitza Stark Gene: crlf1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1105 CRLF1 Zornitza Stark Phenotypes for gene: CRLF1 were changed from Crisponi syndrome to Cold-induced sweating syndrome 1, MIM# 272430
Genomic newborn screening: BabyScreen+ v0.1104 CRLF1 Zornitza Stark Classified gene: CRLF1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1104 CRLF1 Zornitza Stark Gene: crlf1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1103 CRLF1 Zornitza Stark reviewed gene: CRLF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cold-induced sweating syndrome 1, MIM# 272430; Mode of inheritance: 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 Marked gene: SLC19A2 as ready
Genomic newborn screening: BabyScreen+ v0.1103 SLC19A2 Zornitza Stark Gene: slc19a2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1103 SLC19A2 Zornitza Stark Tag treatable tag was added to gene: SLC19A2.
Genomic newborn screening: BabyScreen+ v0.1103 SLC25A1 Seb Lunke Marked gene: SLC25A1 as ready
Genomic newborn screening: BabyScreen+ v0.1103 SLC25A1 Seb Lunke Gene: slc25a1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1103 SLC25A1 Seb Lunke Publications for gene: SLC25A1 were set to
Genomic newborn screening: BabyScreen+ v0.1102 SLC25A1 Seb Lunke Classified gene: SLC25A1 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1102 SLC25A1 Seb Lunke Gene: slc25a1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1101 SLC25A1 Seb Lunke Tag for review tag was added to gene: SLC25A1.
Genomic newborn screening: BabyScreen+ v0.1101 SLC25A1 Seb Lunke reviewed gene: SLC25A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301347; Phenotypes: Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072, Myasthenic syndrome, congenital, 23, presynaptic, MIM#618197, MONDO:0032596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1101 SLC22A5 Seb Lunke Phenotypes for gene: SLC22A5 were changed from Carnitine deficiency, systemic primary, MIM#212140 to Carnitine deficiency, systemic primary, MIM# 212140, MONDO:0008919
Genomic newborn screening: BabyScreen+ v0.1100 SLC22A5 Seb Lunke Publications for gene: SLC22A5 were set to
Genomic newborn screening: BabyScreen+ v0.1099 SLC22A5 Seb Lunke reviewed gene: SLC22A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22420015; Phenotypes: Carnitine deficiency, systemic primary, MIM# 212140, MONDO:0008919; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1099 SLC19A3 Seb Lunke Marked gene: SLC19A3 as ready
Genomic newborn screening: BabyScreen+ v0.1099 SLC19A3 Seb Lunke Gene: slc19a3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1099 SLC19A3 Seb Lunke Phenotypes for gene: SLC19A3 were changed from Basal ganglia disease, biotin-responsive, MIM#607483 to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483
Genomic newborn screening: BabyScreen+ v0.1098 SLC19A3 Seb Lunke Publications for gene: SLC19A3 were set to
Genomic newborn screening: BabyScreen+ v0.1097 SLC19A3 Seb Lunke reviewed gene: SLC19A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24260777; Phenotypes: Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1097 SLC19A2 Seb Lunke Marked gene: SLC19A2 as ready
Genomic newborn screening: BabyScreen+ v0.1097 SLC19A2 Seb Lunke Gene: slc19a2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1097 SLC19A2 Seb Lunke Phenotypes for gene: SLC19A2 were changed from Thiamine-responsive megaloblastic anemia syndrome to Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270
Genomic newborn screening: BabyScreen+ v0.1096 SLC19A2 Seb Lunke Publications for gene: SLC19A2 were set to
Genomic newborn screening: BabyScreen+ v0.1095 SLC19A2 Seb Lunke reviewed gene: SLC19A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301459; Phenotypes: Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1095 SLC18A3 Seb Lunke Marked gene: SLC18A3 as ready
Genomic newborn screening: BabyScreen+ v0.1095 SLC18A3 Seb Lunke Gene: slc18a3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1095 SLC18A3 Seb Lunke Publications for gene: SLC18A3 were set to
Genomic newborn screening: BabyScreen+ v0.1094 SLC18A2 Seb Lunke changed review comment from: Established gene-disease association.

Childhood onset neurological condition.

Treatment: L-dopa resulted in severe exacerbation of the symptoms. Dopamine receptor agonist (pramipexole) resulted in improvement in symptoms. Earlier treatment more beneficial. Evidence from single family with benefits shown in 4 affected children.

Non-genetic confirmatory test: blood pressure measurement and sodium, potassium, aldosterone, renin levels; to: Established gene-disease association.

Childhood onset neurological condition.

Treatment: L-dopa resulted in severe exacerbation of the symptoms. Dopamine receptor agonist (pramipexole) resulted in improvement in symptoms. Earlier treatment more beneficial. Evidence from single family with benefits shown in 4 affected children.

Non-genetic confirmatory test: whole blood serotonin level
Genomic newborn screening: BabyScreen+ v0.1094 SLC18A3 Seb Lunke reviewed gene: SLC18A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301347; Phenotypes: Myasthenic syndrome, congenital, 21, presynaptic, MIM#617239; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1094 SLC18A2 Seb Lunke Marked gene: SLC18A2 as ready
Genomic newborn screening: BabyScreen+ v0.1094 SLC18A2 Seb Lunke Added comment: Comment when marking as ready: Is evidence for treatment sufficient?
Genomic newborn screening: BabyScreen+ v0.1094 SLC18A2 Seb Lunke Gene: slc18a2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1094 SLC18A2 Seb Lunke Tag for review tag was added to gene: SLC18A2.
Genomic newborn screening: BabyScreen+ v0.1094 SLC18A2 Seb Lunke reviewed gene: SLC18A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23363473; Phenotypes: Parkinsonism-dystonia, infantile, 2, MIM# 618049; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1094 KDM6A Zornitza Stark Marked gene: KDM6A as ready
Genomic newborn screening: BabyScreen+ v0.1094 KDM6A Zornitza Stark Gene: kdm6a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1094 KDM6A Zornitza Stark Phenotypes for gene: KDM6A were changed from Kabuki syndrome 2 to Kabuki syndrome 2, MIM#300867
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+ v0.1092 KDM6A Zornitza Stark Classified gene: KDM6A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1092 KDM6A Zornitza Stark Gene: kdm6a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1091 KDM6A Zornitza Stark reviewed gene: KDM6A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Kabuki syndrome 2, 300867; Mode of inheritance: 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+ v0.1091 KIF21A Zornitza Stark Marked gene: KIF21A as ready
Genomic newborn screening: BabyScreen+ v0.1091 KIF21A Zornitza Stark Gene: kif21a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1091 KIF21A Zornitza Stark Phenotypes for gene: KIF21A were changed from Fibrosis Fibrosis of extraocular muscles, congenital, 1/3B, MIM# 135700of extraocular muscles, congenital to Fibrosis of extraocular muscles, congenital, 1/3B, MIM# 135700
Genomic newborn screening: BabyScreen+ v0.1090 KIF21A Zornitza Stark Phenotypes for gene: KIF21A were changed from Fibrosis of extraocular muscles, congenital to Fibrosis Fibrosis of extraocular muscles, congenital, 1/3B, MIM# 135700of extraocular muscles, congenital
Genomic newborn screening: BabyScreen+ v0.1089 KIF21A Zornitza Stark Classified gene: KIF21A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1089 KIF21A Zornitza Stark Gene: kif21a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1088 KIF21A Zornitza Stark reviewed gene: KIF21A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Fibrosis of extraocular muscles, congenital, 1/3B, MIM# 135700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1088 KIT Zornitza Stark Marked gene: KIT as ready
Genomic newborn screening: BabyScreen+ v0.1088 KIT Zornitza Stark Gene: kit has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1088 KIT Zornitza Stark Phenotypes for gene: KIT were changed from Piebaldism to Piebaldism, MIM# 172800 Gastrointestinal stromal tumor, familial, MIM# 606764
Genomic newborn screening: BabyScreen+ v0.1087 KIT Zornitza Stark Classified gene: KIT as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1087 KIT Zornitza Stark Gene: kit has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1086 KIT Zornitza Stark reviewed gene: KIT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Piebaldism, MIM# 172800 Gastrointestinal stromal tumor, familial, MIM# 606764; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1086 KLF1 Zornitza Stark Marked gene: KLF1 as ready
Genomic newborn screening: BabyScreen+ v0.1086 KLF1 Zornitza Stark Gene: klf1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1086 KLF1 Zornitza Stark Phenotypes for gene: KLF1 were changed from MONDO:0013355; Dyserythropoietic anaemia, congenital, type IV, MIM# 613673 to Dyserythropoietic anaemia, congenital, type IV, MIM# 613673
Genomic newborn screening: BabyScreen+ v0.1085 KLF1 Zornitza Stark Classified gene: KLF1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1085 KLF1 Zornitza Stark Gene: klf1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1084 KLF1 Zornitza Stark reviewed gene: KLF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyserythropoietic anaemia, congenital, type IV, MIM# 613673; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1084 KLHL40 Zornitza Stark Marked gene: KLHL40 as ready
Genomic newborn screening: BabyScreen+ v0.1084 KLHL40 Zornitza Stark Gene: klhl40 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1084 KLHL40 Zornitza Stark Phenotypes for gene: KLHL40 were changed from Nemaline myopathy to Nemaline myopathy 8, autosomal recessive, MIM# 615348
Genomic newborn screening: BabyScreen+ v0.1083 KLHL40 Zornitza Stark Classified gene: KLHL40 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1083 KLHL40 Zornitza Stark Gene: klhl40 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1082 KLHL40 Zornitza Stark reviewed gene: KLHL40: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 8, autosomal recessive, MIM# 615348; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1082 KLHL41 Zornitza Stark Marked gene: KLHL41 as ready
Genomic newborn screening: BabyScreen+ v0.1082 KLHL41 Zornitza Stark Gene: klhl41 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1082 KLHL41 Zornitza Stark Phenotypes for gene: KLHL41 were changed from Nemaline myopathy to Nemaline myopathy 9, MIM# 615731
Genomic newborn screening: BabyScreen+ v0.1081 KLHL41 Zornitza Stark Classified gene: KLHL41 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1081 KLHL41 Zornitza Stark Gene: klhl41 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1080 KLHL41 Zornitza Stark reviewed gene: KLHL41: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 9, MIM# 615731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1080 KAT6B Zornitza Stark Marked gene: KAT6B as ready
Genomic newborn screening: BabyScreen+ v0.1080 KAT6B Zornitza Stark Gene: kat6b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1080 KAT6B Zornitza Stark Phenotypes for gene: KAT6B were changed from Genitopatellar syndrome to SBBYSS syndrome MIM #603736; Genitopatellar syndrome MIM #606170
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+ v0.1078 KAT6B Zornitza Stark Classified gene: KAT6B as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1078 KAT6B Zornitza Stark Gene: kat6b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1077 KAT6B Zornitza Stark reviewed gene: KAT6B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: SBBYSS syndrome MIM #603736, Genitopatellar syndrome MIM #606170; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1077 KMT2D Zornitza Stark Marked gene: KMT2D as ready
Genomic newborn screening: BabyScreen+ v0.1077 KMT2D Zornitza Stark Gene: kmt2d has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1077 KMT2D Zornitza Stark Phenotypes for gene: KMT2D were changed from Kabuki syndrome 1 to Kabuki syndrome 1, MIM# 147920
Genomic newborn screening: BabyScreen+ v0.1076 KMT2D Zornitza Stark Classified gene: KMT2D as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1076 KMT2D Zornitza Stark Gene: kmt2d has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1075 KMT2D Zornitza Stark commented on gene: KMT2D: Well established gene-disease association.

Congenital onset, multi-system disorder.

No specific treatment.
Genomic newborn screening: BabyScreen+ v0.1075 KMT2D Zornitza Stark reviewed gene: KMT2D: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Kabuki syndrome 1, MIM# 147920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1075 KRT14 Zornitza Stark Marked gene: KRT14 as ready
Genomic newborn screening: BabyScreen+ v0.1075 KRT14 Zornitza Stark Gene: krt14 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1075 KRT14 Zornitza Stark Phenotypes for gene: KRT14 were changed from Epidermolysis bullosa simplex to Epidermolysis bullosa simplex, recessive 1, 601001; Dermatopathia pigmentosa reticularis, 125595; Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Epidermolysis bullosa simplex, Koebner type, 131900; Epidermolysis bullosa simplex, Weber-Cockayne type, 131800; Naegeli-Franceschetti-Jadassohn syndrome, 161000
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+ v0.1073 KRT14 Zornitza Stark Classified gene: KRT14 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1073 KRT14 Zornitza Stark Gene: krt14 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1072 KRT14 Zornitza Stark reviewed gene: KRT14: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa simplex, recessive 1, 601001, Dermatopathia pigmentosa reticularis, 125595, Epidermolysis bullosa simplex, Dowling-Meara type, 131760, Epidermolysis bullosa simplex, Koebner type, 131900, Epidermolysis bullosa simplex, Weber-Cockayne type, 131800, Naegeli-Franceschetti-Jadassohn syndrome, 161000; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1072 KRT16 Zornitza Stark Marked gene: KRT16 as ready
Genomic newborn screening: BabyScreen+ v0.1072 KRT16 Zornitza Stark Gene: krt16 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1072 KRT16 Zornitza Stark Phenotypes for gene: KRT16 were changed from Pachyonychia congenita to Palmoplantar keratoderma, nonepidermolytic, focal (MIM#613000) Pachyonychia congenita 1 (MIM#167200)
Genomic newborn screening: BabyScreen+ v0.1071 KRT16 Zornitza Stark Classified gene: KRT16 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1071 KRT16 Zornitza Stark Gene: krt16 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1070 KRT16 Zornitza Stark reviewed gene: KRT16: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Palmoplantar keratoderma, nonepidermolytic, focal (MIM#613000) Pachyonychia congenita 1 (MIM#167200); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1070 KRT17 Zornitza Stark Marked gene: KRT17 as ready
Genomic newborn screening: BabyScreen+ v0.1070 KRT17 Zornitza Stark Gene: krt17 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1070 KRT17 Zornitza Stark Phenotypes for gene: KRT17 were changed from Pachyonychia congenita to Pachyonychia congenita 2, MIM#167210 Steatocystoma multiplex, MIM# 184500
Genomic newborn screening: BabyScreen+ v0.1069 KRT17 Zornitza Stark Classified gene: KRT17 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1069 KRT17 Zornitza Stark Gene: krt17 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1068 KRT17 Zornitza Stark reviewed gene: KRT17: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pachyonychia congenita 2, MIM#167210 Steatocystoma multiplex, MIM# 184500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1068 KRT5 Zornitza Stark Marked gene: KRT5 as ready
Genomic newborn screening: BabyScreen+ v0.1068 KRT5 Zornitza Stark Gene: krt5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1068 KRT5 Zornitza Stark Phenotypes for gene: KRT5 were changed from Epidermolysis bullosa simplex to Dowling-Degos disease 1, MIM# 179850; Epidermolysis bullosa simplex-MCR, MIM# 609352; Epidermolysis bullosa simplex-MP 131960; Epidermolysis bullosa simplex, Dowling-Meara type, MIM# 131760; Epidermolysis bullosa simplex, Koebner type, MIM# 131900; Epidermolysis bullosa simplex, recessive 1, MIM# 601001; Epidermolysis bullosa simplex, Weber-Cockayne type, MIM# 131800
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+ v0.1066 KRT5 Zornitza Stark Classified gene: KRT5 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1066 KRT5 Zornitza Stark Gene: krt5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1065 KRT5 Zornitza Stark reviewed gene: KRT5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dowling-Degos disease 1, MIM# 179850, Epidermolysis bullosa simplex-MCR, MIM# 609352, Epidermolysis bullosa simplex-MP 131960, Epidermolysis bullosa simplex, Dowling-Meara type, MIM# 131760, Epidermolysis bullosa simplex, Koebner type, MIM# 131900, Epidermolysis bullosa simplex, recessive 1, MIM# 601001, Epidermolysis bullosa simplex, Weber-Cockayne type, MIM# 131800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1065 KRT6A Zornitza Stark Marked gene: KRT6A as ready
Genomic newborn screening: BabyScreen+ v0.1065 KRT6A Zornitza Stark Gene: krt6a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1065 KRT6A Zornitza Stark Phenotypes for gene: KRT6A were changed from Pachyonychia congenita to Pachyonychia congenita 3 (MIM#615726)
Genomic newborn screening: BabyScreen+ v0.1064 KRT6A Zornitza Stark Classified gene: KRT6A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1064 KRT6A Zornitza Stark Gene: krt6a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1063 KRT6A Zornitza Stark reviewed gene: KRT6A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pachyonychia congenita 3 (MIM#615726); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1063 PTPN11 Zornitza Stark Marked gene: PTPN11 as ready
Genomic newborn screening: BabyScreen+ v0.1063 PTPN11 Zornitza Stark Gene: ptpn11 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1063 PTPN11 Zornitza Stark Phenotypes for gene: PTPN11 were changed from Noonan syndrome to Noonan syndrome 1, MIM# 163950
Genomic newborn screening: BabyScreen+ v0.1062 PTPN11 Zornitza Stark Classified gene: PTPN11 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1062 PTPN11 Zornitza Stark Gene: ptpn11 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1061 PTPN11 Zornitza Stark reviewed gene: PTPN11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome 1, MIM# 163950; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1061 KRAS Zornitza Stark Marked gene: KRAS as ready
Genomic newborn screening: BabyScreen+ v0.1061 KRAS Zornitza Stark Gene: kras has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1061 KRAS Zornitza Stark Phenotypes for gene: KRAS were changed from Noonan syndrome to Cardiofaciocutaneous syndrome 2, MIM# 615278; Noonan syndrome 3, MIM# 609942
Genomic newborn screening: BabyScreen+ v0.1060 KRAS Zornitza Stark Classified gene: KRAS as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1060 KRAS Zornitza Stark Gene: kras has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1059 KRAS Zornitza Stark reviewed gene: KRAS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiofaciocutaneous syndrome 2, MIM# 615278, Noonan syndrome 3, MIM# 609942; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1059 HRAS Zornitza Stark Marked gene: HRAS as ready
Genomic newborn screening: BabyScreen+ v0.1059 HRAS Zornitza Stark Gene: hras has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1059 HRAS Zornitza Stark Phenotypes for gene: HRAS were changed from Costello syndrome to Costello syndrome, MIM# 218040
Genomic newborn screening: BabyScreen+ v0.1058 HRAS Zornitza Stark Classified gene: HRAS as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1058 HRAS Zornitza Stark Gene: hras has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1057 HRAS Zornitza Stark reviewed gene: HRAS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Costello syndrome, MIM# 218040; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1057 HINT1 Zornitza Stark Marked gene: HINT1 as ready
Genomic newborn screening: BabyScreen+ v0.1057 HINT1 Zornitza Stark Gene: hint1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1057 HINT1 Zornitza Stark Phenotypes for gene: HINT1 were changed from Axonal neuropathy with neuromyotonia to Neuromyotonia and axonal neuropathy, autosomal recessive, MIM# 137200; Gamstorp-Wohlfart syndrome, MONDO:0007646
Genomic newborn screening: BabyScreen+ v0.1056 HINT1 Zornitza Stark Classified gene: HINT1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1056 HINT1 Zornitza Stark Gene: hint1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1055 HINT1 Zornitza Stark reviewed gene: HINT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuromyotonia and axonal neuropathy, autosomal recessive, MIM# 137200, Gamstorp-Wohlfart syndrome, MONDO:0007646; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1055 FAM126A Zornitza Stark Marked gene: FAM126A as ready
Genomic newborn screening: BabyScreen+ v0.1055 FAM126A Zornitza Stark Gene: fam126a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1055 FAM126A Zornitza Stark Phenotypes for gene: FAM126A were changed from Hypomyelination and congenital cataract to Hypomyelinating leukodystrophy 5 MONDO:0012514
Genomic newborn screening: BabyScreen+ v0.1054 FAM126A Zornitza Stark Classified gene: FAM126A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1054 FAM126A Zornitza Stark Gene: fam126a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1053 FAM126A Zornitza Stark reviewed gene: FAM126A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypomyelinating leukodystrophy 5 MONDO:0012514; Mode of inheritance: 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+ v0.1053 ATP2B2 Zornitza Stark Publications for gene: ATP2B2 were set to
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 BMPR1A Zornitza Stark changed review comment from: Well established gene-disease association.

Polyposis: onset in childhood although cancer onset tends to be in adulthood.

For review.; to: Well established gene-disease association.

Polyposis: onset in childhood although cancer onset tends to be in adulthood.

Screening typically starts in adolescence.
Genomic newborn screening: BabyScreen+ v0.1052 CASQ2 Zornitza Stark Tag cardiac tag was added to gene: CASQ2.
Genomic newborn screening: BabyScreen+ v0.1052 CASQ2 Zornitza Stark Classified gene: CASQ2 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1052 CASQ2 Zornitza Stark Gene: casq2 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1051 DDB2 Zornitza Stark Tag for review was removed from gene: DDB2.
Genomic newborn screening: BabyScreen+ v0.1051 DDB2 Zornitza Stark changed review comment from: Established gene-disease association.

Range of age of onset, from childhood to adulthood. Most reported patients are adults, and this subtype which is generally milder.

Treatment: avoid exposure to UVA and UVB (found in sunlight) and UVC (found in some artificial light sources). Oral isotretinoin, oral niacinamide, topical imiquimod and topical fluorouracil.

For review re age of onset.; to: Established gene-disease association.

Range of age of onset, from childhood to adulthood. Most reported patients are adults, and this subtype which is generally milder.

Treatment: avoid exposure to UVA and UVB (found in sunlight) and UVC (found in some artificial light sources). Oral isotretinoin, oral niacinamide, topical imiquimod and topical fluorouracil.
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+ v0.1051 ERCC5 Zornitza Stark changed review comment from: Bi-allelic variants cause a range of DNA repair disorders.

Variable severity and age of onset of manifestations.

Some features are treatable: avoid exposure to UVA and UVB (found in sunlight) and UVC (found in some artificial light sources). Oral isotretinoin, oral niacinamide, topical imiquimod and topical fluorouracil.

For discussion.; to: Bi-allelic variants cause a range of DNA repair disorders.

Variable severity and age of onset of manifestations.

Some features are treatable: avoid exposure to UVA and UVB (found in sunlight) and UVC (found in some artificial light sources). Oral isotretinoin, oral niacinamide, topical imiquimod and topical fluorouracil.
Genomic newborn screening: BabyScreen+ v0.1051 TSC1 Zornitza Stark Classified gene: TSC1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1051 TSC1 Zornitza Stark Gene: tsc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1050 TSC1 Zornitza Stark Tag for review was removed from gene: TSC1.
Genomic newborn screening: BabyScreen+ v0.1050 TSC1 Zornitza Stark reviewed gene: TSC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Tuberous sclerosis-1 MIM#191100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1050 TSC2 Zornitza Stark Classified gene: TSC2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1050 TSC2 Zornitza Stark Gene: tsc2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1049 TSC2 Zornitza Stark Tag for review was removed from gene: TSC2.
Genomic newborn screening: BabyScreen+ v0.1049 TSC2 Zornitza Stark changed review comment from: Treatment is largely symptomatic.; to: Treatment is symptomatic.
Genomic newborn screening: BabyScreen+ v0.1049 TSC2 Zornitza Stark reviewed gene: TSC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Tuberous sclerosis-2 MIM#613254; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1049 TTC7A Zornitza Stark Classified gene: TTC7A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1049 TTC7A Zornitza Stark Gene: ttc7a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1048 TTC7A Zornitza Stark Tag for review was removed from gene: TTC7A.
Genomic newborn screening: BabyScreen+ v0.1048 TTC7A Zornitza Stark reviewed gene: TTC7A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Gastrointestinal defects and immunodeficiency syndrome MIM#243150; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.1048 ERCC2 Zornitza Stark Classified gene: ERCC2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1048 ERCC2 Zornitza Stark Gene: ercc2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1047 ERCC2 Zornitza Stark Tag for review was removed from gene: ERCC2.
Genomic newborn screening: BabyScreen+ v0.1047 ERCC2 Zornitza Stark edited their review of gene: ERCC2: Changed rating: RED
Genomic newborn screening: BabyScreen+ v0.1047 ERCC2 Zornitza Stark changed review comment from: Bi-allelic variants in this gene cause a range of conditions, including COFS, trichothiodystrophy and XPE.

DNA repair disorder.

Some features are treatable: avoid exposure to UVA and UVB (found in sunlight) and UVC (found in some artificial light sources). Oral isotretinoin, oral niacinamide, topical imiquimod and topical fluorouracil.

For discussion.; to: Bi-allelic variants in this gene cause a range of conditions, including COFS, trichothiodystrophy and XPE.

DNA repair disorder.

Some features are treatable: avoid exposure to UVA and UVB (found in sunlight) and UVC (found in some artificial light sources). Oral isotretinoin, oral niacinamide, topical imiquimod and topical fluorouracil.
Genomic newborn screening: BabyScreen+ v0.1047 TSHR Zornitza Stark Phenotypes for gene: TSHR were changed from Hypothyroidism, congenital, nongoitrous, 1 - MIM#275200 to Hypothyroidism, congenital, nongoitrous, 1 - MIM#275200; HYPERTHYROIDISM, FAMILIAL GESTATIONAL HYPERTHYROIDISM
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+ v0.1045 FBN1 Zornitza Stark Classified gene: FBN1 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1045 FBN1 Zornitza Stark Gene: fbn1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1044 FBN1 Zornitza Stark edited their review of gene: FBN1: Changed rating: AMBER
Genomic newborn screening: BabyScreen+ v0.1044 FGFR3 Zornitza Stark Tag clinical trial tag was added to gene: FGFR3.
Genomic newborn screening: BabyScreen+ v0.1044 FAM161A Zornitza Stark Marked gene: FAM161A as ready
Genomic newborn screening: BabyScreen+ v0.1044 FAM161A Zornitza Stark Gene: fam161a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1044 FAM161A Zornitza Stark Phenotypes for gene: FAM161A were changed from Retinal dystrophy to Retinitis pigmentosa 28, 606068
Genomic newborn screening: BabyScreen+ v0.1043 FAM161A Zornitza Stark Classified gene: FAM161A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1043 FAM161A Zornitza Stark Gene: fam161a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1042 FAM161A Zornitza Stark reviewed gene: FAM161A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 28, 606068; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1042 FAM20C Zornitza Stark Marked gene: FAM20C as ready
Genomic newborn screening: BabyScreen+ v0.1042 FAM20C Zornitza Stark Gene: fam20c has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1042 FAM20C Zornitza Stark Phenotypes for gene: FAM20C were changed from Osteosclerotic bone dysplasia to Raine syndrome, MIM# 259775
Genomic newborn screening: BabyScreen+ v0.1041 FAM20C Zornitza Stark Classified gene: FAM20C as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1041 FAM20C Zornitza Stark Gene: fam20c has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1040 FAM20C Zornitza Stark reviewed gene: FAM20C: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Raine syndrome, MIM# 259775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1040 ACAT1 Zornitza Stark Tag treatable tag was added to gene: ACAT1.
Genomic newborn screening: BabyScreen+ v0.1040 FAM58A Zornitza Stark Marked gene: FAM58A as ready
Genomic newborn screening: BabyScreen+ v0.1040 FAM58A Zornitza Stark Gene: fam58a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1040 FAM58A Zornitza Stark Phenotypes for gene: FAM58A were changed from Syndactyly - telecanthus - anogenital and renal malformations to syndactyly-telecanthus-anogenital and renal malformations syndrome MONDO:0010408
Genomic newborn screening: BabyScreen+ v0.1039 FAM58A Zornitza Stark Classified gene: FAM58A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1039 FAM58A Zornitza Stark Gene: fam58a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1038 FAM58A Zornitza Stark reviewed gene: FAM58A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: syndactyly-telecanthus-anogenital and renal malformations syndrome MONDO:0010408; Mode of inheritance: Other
Genomic newborn screening: BabyScreen+ v0.1038 FANCA Zornitza Stark Marked gene: FANCA as ready
Genomic newborn screening: BabyScreen+ v0.1038 FANCA Zornitza Stark Gene: fanca has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1038 FANCA Zornitza Stark Phenotypes for gene: FANCA were changed from Fanconi anaemia, MIM#227650 to Fanconi anaemia, complementation group A, MIM# 227650; MONDO:0009215
Genomic newborn screening: BabyScreen+ v0.1037 FANCA Zornitza Stark reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anaemia, complementation group A, MIM# 227650, MONDO:0009215; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1037 FANCB Zornitza Stark Marked gene: FANCB as ready
Genomic newborn screening: BabyScreen+ v0.1037 FANCB Zornitza Stark Gene: fancb has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1037 FANCB Zornitza Stark Phenotypes for gene: FANCB were changed from Fanconi anaemia, MIM#300514 to Fanconi anaemia, complementation group B, MIM# 300514
Genomic newborn screening: BabyScreen+ v0.1036 FANCB Zornitza Stark Tag treatable tag was added to gene: FANCB.
Genomic newborn screening: BabyScreen+ v0.1036 FANCB Zornitza Stark reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anaemia, complementation group B, MIM# 300514; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1036 FANCC Zornitza Stark Marked gene: FANCC as ready
Genomic newborn screening: BabyScreen+ v0.1036 FANCC Zornitza Stark Gene: fancc has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1036 FANCC Zornitza Stark Phenotypes for gene: FANCC were changed from Fanconi anaemia, MIM#227645 to Fanconi anemia, complementation group C, MIM# 227645; MONDO:0009213
Genomic newborn screening: BabyScreen+ v0.1035 FANCC Zornitza Stark reviewed gene: FANCC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group C, MIM# 227645 MONDO:0009213; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1035 FANCD2 Zornitza Stark Marked gene: FANCD2 as ready
Genomic newborn screening: BabyScreen+ v0.1035 FANCD2 Zornitza Stark Gene: fancd2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1035 FANCD2 Zornitza Stark Phenotypes for gene: FANCD2 were changed from Fanconi anaemia, MIM#227646 to Fanconi anaemia, complementation group D2, MIM# 227646; MONDO:0009214
Genomic newborn screening: BabyScreen+ v0.1034 FANCD2 Zornitza Stark reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anaemia, complementation group D2, MIM# 227646, MONDO:0009214; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1034 FANCG Zornitza Stark Marked gene: FANCG as ready
Genomic newborn screening: BabyScreen+ v0.1034 FANCG Zornitza Stark Gene: fancg has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1034 FANCG Zornitza Stark Tag treatable tag was added to gene: FANCG.
Genomic newborn screening: BabyScreen+ v0.1034 FANCG Zornitza Stark reviewed gene: FANCG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anaemia, complementation group G, MIM# 614082, MONDO:0013565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1034 FANCI Zornitza Stark Marked gene: FANCI as ready
Genomic newborn screening: BabyScreen+ v0.1034 FANCI Zornitza Stark Gene: fanci has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1034 FANCI Zornitza Stark Tag treatable tag was added to gene: FANCI.
Genomic newborn screening: BabyScreen+ v0.1034 FANCI Zornitza Stark reviewed gene: FANCI: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group I, MIM# 609053; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1034 FAS Zornitza Stark Marked gene: FAS as ready
Genomic newborn screening: BabyScreen+ v0.1034 FAS Zornitza Stark Gene: fas has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1034 FAS Zornitza Stark Classified gene: FAS as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1034 FAS Zornitza Stark Gene: fas has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1033 FAS Zornitza Stark reviewed gene: FAS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoimmune lymphoproliferative syndrome MONDO:0017979; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1033 FBN1 Zornitza Stark Marked gene: FBN1 as ready
Genomic newborn screening: BabyScreen+ v0.1033 FBN1 Zornitza Stark Gene: fbn1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1033 FBN1 Zornitza Stark Phenotypes for gene: FBN1 were changed from Marfan's syndrome; Weill-Marchesani syndrome 2, dominant; Shprintzen-Goldberg syndrome to Marfan syndrome, MIM# 154700
Genomic newborn screening: BabyScreen+ v0.1032 FBN1 Zornitza Stark Classified gene: FBN1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1032 FBN1 Zornitza Stark Gene: fbn1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1031 FBN1 Zornitza Stark Tag for review tag was added to gene: FBN1.
Genomic newborn screening: BabyScreen+ v0.1031 FBN1 Zornitza Stark reviewed gene: FBN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Marfan syndrome, MIM# 154700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1031 GDAP1 Zornitza Stark Marked gene: GDAP1 as ready
Genomic newborn screening: BabyScreen+ v0.1031 GDAP1 Zornitza Stark Gene: gdap1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1031 GDAP1 Zornitza Stark Phenotypes for gene: GDAP1 were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, axonal, type 2K, MIM#607831; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, MIM#607706; Charcot-Marie-Tooth disease, recessive intermediate, A, MIM#608340; Charcot-Marie-Tooth disease, type 4A, MIM#214400
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+ v0.1028 GDAP1 Zornitza Stark Classified gene: GDAP1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1028 GDAP1 Zornitza Stark Gene: gdap1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1027 FERMT3 Zornitza Stark Marked gene: FERMT3 as ready
Genomic newborn screening: BabyScreen+ v0.1027 FERMT3 Zornitza Stark Gene: fermt3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1027 FERMT3 Zornitza Stark Tag treatable tag was added to gene: FERMT3.
Genomic newborn screening: BabyScreen+ v0.1027 FERMT3 Zornitza Stark reviewed gene: FERMT3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukocyte adhesion deficiency, type III, MIM# 612840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1027 FGA Zornitza Stark Marked gene: FGA as ready
Genomic newborn screening: BabyScreen+ v0.1027 FGA Zornitza Stark Gene: fga has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1027 FGA Zornitza Stark Phenotypes for gene: FGA were changed from Afibrinogenaemia to Afibrinogenemia, congenital (MIM#202400)
Genomic newborn screening: BabyScreen+ v0.1026 FGA Zornitza Stark reviewed gene: FGA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Afibrinogenemia, congenital (MIM#202400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1026 FGB Zornitza Stark Marked gene: FGB as ready
Genomic newborn screening: BabyScreen+ v0.1026 FGB Zornitza Stark Gene: fgb has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1026 FGB Zornitza Stark Phenotypes for gene: FGB were changed from Afibrinogenaemia to Afibrinogenaemia, congenital, MIM# 202400
Genomic newborn screening: BabyScreen+ v0.1025 FGB Zornitza Stark reviewed gene: FGB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Afibrinogenaemia, congenital, MIM# 202400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1025 FGD1 Zornitza Stark Marked gene: FGD1 as ready
Genomic newborn screening: BabyScreen+ v0.1025 FGD1 Zornitza Stark Gene: fgd1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1025 FGD1 Zornitza Stark Phenotypes for gene: FGD1 were changed from Aarskog-Scott syndrome to Aarskog-Scott syndrome, MIM # 305400; Mental retardation, X-linked syndromic 16, MIM# 305400
Genomic newborn screening: BabyScreen+ v0.1024 FGD1 Zornitza Stark Classified gene: FGD1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1024 FGD1 Zornitza Stark Gene: fgd1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1023 FGD1 Zornitza Stark reviewed gene: FGD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Aarskog-Scott syndrome, MIM # 305400, Mental retardation, X-linked syndromic 16, MIM# 305400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1023 FGD4 Zornitza Stark Marked gene: FGD4 as ready
Genomic newborn screening: BabyScreen+ v0.1023 FGD4 Zornitza Stark Gene: fgd4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1023 FGD4 Zornitza Stark Phenotypes for gene: FGD4 were changed from Charcot-Marie-Tooth disease to Charcot Marie Tooth disease, type 4H, MIM#609311
Genomic newborn screening: BabyScreen+ v0.1022 FGD4 Zornitza Stark Classified gene: FGD4 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1022 FGD4 Zornitza Stark Gene: fgd4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1021 FGD4 Zornitza Stark reviewed gene: FGD4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot Marie Tooth disease, type 4H, MIM#609311; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1021 FGF3 Zornitza Stark Marked gene: FGF3 as ready
Genomic newborn screening: BabyScreen+ v0.1021 FGF3 Zornitza Stark Gene: fgf3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1021 FGF3 Zornitza Stark Phenotypes for gene: FGF3 were changed from Deafness, congenital with inner ear agenesis, microtia, and microdontia to Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM# 610706
Genomic newborn screening: BabyScreen+ v0.1020 FGF3 Zornitza Stark reviewed gene: FGF3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM# 610706; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1020 FBN2 Zornitza Stark Marked gene: FBN2 as ready
Genomic newborn screening: BabyScreen+ v0.1020 FBN2 Zornitza Stark Gene: fbn2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1020 FBN2 Zornitza Stark Classified gene: FBN2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1020 FBN2 Zornitza Stark Gene: fbn2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1019 FBN2 Zornitza Stark reviewed gene: FBN2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Contractural arachnodactyly, congenital, MIM# 121050; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1019 SLC34A3 Zornitza Stark Marked gene: SLC34A3 as ready
Genomic newborn screening: BabyScreen+ v0.1019 SLC34A3 Zornitza Stark Gene: slc34a3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1019 SLC34A3 Zornitza Stark Phenotypes for gene: SLC34A3 were changed from Hypophosphatemic rickets with hypercalciuria to Hypophosphatemic rickets with hypercalciuria, MIM#241530
Genomic newborn screening: BabyScreen+ v0.1018 SLC34A3 Zornitza Stark Tag treatable tag was added to gene: SLC34A3.
Genomic newborn screening: BabyScreen+ v0.1018 SLC34A3 Zornitza Stark reviewed gene: SLC34A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypophosphatemic rickets with hypercalciuria, MIM#241530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1018 FGFR1 Zornitza Stark Marked gene: FGFR1 as ready
Genomic newborn screening: BabyScreen+ v0.1018 FGFR1 Zornitza Stark Gene: fgfr1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1018 FGFR1 Zornitza Stark Phenotypes for gene: FGFR1 were changed from Kallmann syndrome to Encephalocraniocutaneous lipomatosis, somatic mosaic 613001; Hartsfield syndrome 615465; Hypogonadotropic hypogonadism 2 with or without anosmia 147950; Jackson-Weiss syndrome 123150; Osteoglophonic dysplasia 166250; Pfeiffer syndrome 101600; Trigonocephaly 1 190440
Genomic newborn screening: BabyScreen+ v0.1017 FGFR1 Zornitza Stark Classified gene: FGFR1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1017 FGFR1 Zornitza Stark Gene: fgfr1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1016 FGFR1 Zornitza Stark reviewed gene: FGFR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Encephalocraniocutaneous lipomatosis, somatic mosaic 613001, Hartsfield syndrome 615465, Hypogonadotropic hypogonadism 2 with or without anosmia 147950, Jackson-Weiss syndrome 123150, Osteoglophonic dysplasia 166250, Pfeiffer syndrome 101600, Trigonocephaly 1 190440; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1016 FGFR2 Zornitza Stark Marked gene: FGFR2 as ready
Genomic newborn screening: BabyScreen+ v0.1016 FGFR2 Zornitza Stark Gene: fgfr2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1016 FGFR2 Zornitza Stark Phenotypes for gene: FGFR2 were changed from Jackson-Weiss syndrome; Apert syndrome; Crouzon syndrome; Pfeiffer syndrome; Beare-Stevenson cutis gyrata syndrome to Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,MIM# 207410; Apert syndrome, MIM# 101200; Beare-Stevenson cutis gyrata syndrome, MIM# 123790; Bent bone dysplasia syndrome, MIM# 614592; Craniofacial-skeletal-dermatologic dysplasia, MIM# 101600; Crouzon syndrome , MIM#123500; Jackson-Weiss syndrome,MIM# 123150; LADD syndrome, MIM# 149730; Pfeiffer syndrome,MIM# 101600; Saethre-Chotzen syndrome 101400
Genomic newborn screening: BabyScreen+ v0.1015 FGFR2 Zornitza Stark Classified gene: FGFR2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1015 FGFR2 Zornitza Stark Gene: fgfr2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1014 FGFR2 Zornitza Stark reviewed gene: FGFR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,MIM# 207410, Apert syndrome, MIM# 101200, Beare-Stevenson cutis gyrata syndrome, MIM# 123790, Bent bone dysplasia syndrome, MIM# 614592, Craniofacial-skeletal-dermatologic dysplasia, MIM# 101600, Crouzon syndrome , MIM#123500, Jackson-Weiss syndrome,MIM# 123150, LADD syndrome, MIM# 149730, Pfeiffer syndrome,MIM# 101600, Saethre-Chotzen syndrome 101400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1014 FGFR3 Zornitza Stark Marked gene: FGFR3 as ready
Genomic newborn screening: BabyScreen+ v0.1014 FGFR3 Zornitza Stark Gene: fgfr3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1014 FGFR3 Zornitza Stark Phenotypes for gene: FGFR3 were changed from Muenke syndrome; Thanatophoric dysplasia type 1; Crouzon syndrome with acanthosis nigricans; LADD syndrome; Hypochondroplasia; Achondroplasia; CATSHL syndrome to Achondroplasia MONDO:0007037
Genomic newborn screening: BabyScreen+ v0.1013 FGFR3 Zornitza Stark Publications for gene: FGFR3 were set to
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+ v0.1012 FGFR3 Zornitza Stark reviewed gene: FGFR3: Rating: GREEN; Mode of pathogenicity: None; Publications: 34341520, 31269546; Phenotypes: Achondroplasia MONDO:0007037; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1012 FGG Zornitza Stark Marked gene: FGG as ready
Genomic newborn screening: BabyScreen+ v0.1012 FGG Zornitza Stark Gene: fgg has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1012 FGG Zornitza Stark Phenotypes for gene: FGG were changed from Afibrinogenaemia to Afibrinogenemia, congenital, MIM# 202400
Genomic newborn screening: BabyScreen+ v0.1011 FGG Zornitza Stark Tag treatable tag was added to gene: FGG.
Genomic newborn screening: BabyScreen+ v0.1011 FGG Zornitza Stark reviewed gene: FGG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Afibrinogenemia, congenital, MIM# 202400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1011 FKRP Zornitza Stark Marked gene: FKRP as ready
Genomic newborn screening: BabyScreen+ v0.1011 FKRP Zornitza Stark Gene: fkrp has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1011 FKRP Zornitza Stark Phenotypes for gene: FKRP were changed from Muscle-eye-brain disease; Muscular dystrophy, limb girdle 2I to Muscular dystrophy-dystroglycanopathy MONDO:0018276
Genomic newborn screening: BabyScreen+ v0.1010 FKRP Zornitza Stark Classified gene: FKRP as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1010 FKRP Zornitza Stark Gene: fkrp has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1009 FKRP Zornitza Stark reviewed gene: FKRP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy MONDO:0018276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1009 FKTN Zornitza Stark Marked gene: FKTN as ready
Genomic newborn screening: BabyScreen+ v0.1009 FKTN Zornitza Stark Gene: fktn has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1009 FKTN Zornitza Stark Phenotypes for gene: FKTN were changed from Muscular dystrophy, Fukuyama; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies to Muscular dystrophy-dystroglycanopathy MONDO:0018276
Genomic newborn screening: BabyScreen+ v0.1008 FKTN Zornitza Stark Classified gene: FKTN as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1008 FKTN Zornitza Stark Gene: fktn has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1007 FKTN Zornitza Stark reviewed gene: FKTN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy MONDO:0018276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1007 FLCN Zornitza Stark changed review comment from: Well established gene-disease association.

Typically manifests in adulthood, therefore predictive testing usually offered in adolescence with surveillance thereafter.

For review.; to: Well established gene-disease association.

Typically manifests in adulthood, therefore predictive testing usually offered in adolescence with surveillance thereafter. Renal cancer age of onset ~50 years.

For review.
Genomic newborn screening: BabyScreen+ v0.1007 FLCN Zornitza Stark Marked gene: FLCN as ready
Genomic newborn screening: BabyScreen+ v0.1007 FLCN Zornitza Stark Gene: flcn has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1007 FLCN Zornitza Stark Phenotypes for gene: FLCN were changed from Birt-Hogg-Dube syndrome to Birt-Hogg-Dube syndrome, MIM# 135150
Genomic newborn screening: BabyScreen+ v0.1006 FLCN Zornitza Stark Classified gene: FLCN as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1006 FLCN Zornitza Stark Gene: flcn has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1005 FLCN Zornitza Stark Tag for review tag was added to gene: FLCN.
Genomic newborn screening: BabyScreen+ v0.1005 FLCN Zornitza Stark reviewed gene: FLCN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Birt-Hogg-Dube syndrome, MIM# 135150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1005 FLNA Zornitza Stark Marked gene: FLNA as ready
Genomic newborn screening: BabyScreen+ v0.1005 FLNA Zornitza Stark Gene: flna has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1005 FLNA Zornitza Stark Phenotypes for gene: FLNA were changed from Otopalatodigital spectrum disorder to FLNA-related disorders; Frontometaphyseal dysplasia 305620; Otopalatodigital syndrome, type II -304120; Osteodysplasty Melnick Needles 309350; Melnick Needles syndrome 309350; Otopalatodigital syndrome, type II 304120; Frontometaphyseal dysplasia 305620; Terminal osseous dysplasia 300244; Otopalatodigital syndrome, type I -311300
Genomic newborn screening: BabyScreen+ v0.1004 FLNA Zornitza Stark Classified gene: FLNA as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1004 FLNA Zornitza Stark Gene: flna has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1003 FLNA Zornitza Stark reviewed gene: FLNA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: FLNA-related disorders, Frontometaphyseal dysplasia 305620, Otopalatodigital syndrome, type II -304120, Osteodysplasty Melnick Needles 309350, Melnick Needles syndrome 309350, Otopalatodigital syndrome, type II 304120, Frontometaphyseal dysplasia 305620, Terminal osseous dysplasia 300244, Otopalatodigital syndrome, type I -311300; Mode of inheritance: 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+ v0.1003 FOXA2 Zornitza Stark Marked gene: FOXA2 as ready
Genomic newborn screening: BabyScreen+ v0.1003 FOXA2 Zornitza Stark Gene: foxa2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1003 FOXA2 Zornitza Stark Phenotypes for gene: FOXA2 were changed from Combined pituitary hormone deficiencies, genetic forms, ORPHA:95494; Congenital isolated hyperinsulinism, ORPHA:657 to Hyperinsulinism MONDO:0002177
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+ v0.1001 FOXA2 Zornitza Stark reviewed gene: FOXA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperinsulinism MONDO:0002177; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1001 FOXC1 Zornitza Stark Marked gene: FOXC1 as ready
Genomic newborn screening: BabyScreen+ v0.1001 FOXC1 Zornitza Stark Gene: foxc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1001 FOXC1 Zornitza Stark Phenotypes for gene: FOXC1 were changed from Axenfeld-Rieger syndrome to Axenfeld-Rieger syndrome, type 3, MIM# 602482
Genomic newborn screening: BabyScreen+ v0.1000 FOXC1 Zornitza Stark Classified gene: FOXC1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1000 FOXC1 Zornitza Stark Gene: foxc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.999 FOXC1 Zornitza Stark reviewed gene: FOXC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Axenfeld-Rieger syndrome, type 3, MIM# 602482; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.999 FOXC2 Zornitza Stark Marked gene: FOXC2 as ready
Genomic newborn screening: BabyScreen+ v0.999 FOXC2 Zornitza Stark Gene: foxc2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.999 FOXC2 Zornitza Stark Phenotypes for gene: FOXC2 were changed from Lymphoedema, primary to Lymphoedema-distichiasis syndrome, MIM# 153400
Genomic newborn screening: BabyScreen+ v0.998 FOXC2 Zornitza Stark Classified gene: FOXC2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.998 FOXC2 Zornitza Stark Gene: foxc2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.997 FOXC2 Zornitza Stark reviewed gene: FOXC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lymphoedema-distichiasis syndrome, MIM# 153400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.997 FOXF1 Zornitza Stark Marked gene: FOXF1 as ready
Genomic newborn screening: BabyScreen+ v0.997 FOXF1 Zornitza Stark Gene: foxf1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.997 FOXF1 Zornitza Stark Phenotypes for gene: FOXF1 were changed from Alveolar capillary dysplasia with misalignment of pulmonary veins to Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380
Genomic newborn screening: BabyScreen+ v0.996 FOXF1 Zornitza Stark Classified gene: FOXF1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.996 FOXF1 Zornitza Stark Gene: foxf1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.995 FOXF1 Zornitza Stark reviewed gene: FOXF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.995 FOXI1 Zornitza Stark Marked gene: FOXI1 as ready
Genomic newborn screening: BabyScreen+ v0.995 FOXI1 Zornitza Stark Gene: foxi1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.995 FOXI1 Zornitza Stark Phenotypes for gene: FOXI1 were changed from sensorineural deafness and distal renal tubular acidosis to autosomal recessive distal renal tubular acidosis MONDO:0018440
Genomic newborn screening: BabyScreen+ v0.994 FOXI1 Zornitza Stark Classified gene: FOXI1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.994 FOXI1 Zornitza Stark Gene: foxi1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.993 FOXI1 Zornitza Stark reviewed gene: FOXI1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: autosomal recessive distal renal tubular acidosis MONDO:0018440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.993 FOXP3 Zornitza Stark Marked gene: FOXP3 as ready
Genomic newborn screening: BabyScreen+ v0.993 FOXP3 Zornitza Stark Gene: foxp3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.993 FOXP3 Zornitza Stark Phenotypes for gene: FOXP3 were changed from IPEX syndrome, MIM#304790 to IPEX syndrome, MIM#304790
Genomic newborn screening: BabyScreen+ v0.992 FOXP3 Zornitza Stark Tag treatable tag was added to gene: FOXP3.
Genomic newborn screening: BabyScreen+ v0.992 FOXP3 Zornitza Stark reviewed gene: FOXP3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked , MIM#304790; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.992 FRAS1 Zornitza Stark Marked gene: FRAS1 as ready
Genomic newborn screening: BabyScreen+ v0.992 FRAS1 Zornitza Stark Gene: fras1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.992 FRAS1 Zornitza Stark Phenotypes for gene: FRAS1 were changed from Fraser syndrome to Fraser syndrome 1, MIM#219000
Genomic newborn screening: BabyScreen+ v0.991 FRAS1 Zornitza Stark Classified gene: FRAS1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.991 FRAS1 Zornitza Stark Gene: fras1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.990 FRAS1 Zornitza Stark reviewed gene: FRAS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Fraser syndrome 1, MIM#219000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.990 GLDC Zornitza Stark Marked gene: GLDC as ready
Genomic newborn screening: BabyScreen+ v0.990 GLDC Zornitza Stark Gene: gldc has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.990 GLDC Zornitza Stark Phenotypes for gene: GLDC were changed from Glycine encephalopathy to Glycine encephalopathy, MIM# 605899
Genomic newborn screening: BabyScreen+ v0.989 GLDC Zornitza Stark Publications for gene: GLDC were set to
Genomic newborn screening: BabyScreen+ v0.988 GLDC Zornitza Stark Tag for review tag was added to gene: GLDC.
Genomic newborn screening: BabyScreen+ v0.988 GLDC Zornitza Stark Classified gene: GLDC as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.988 GLDC Zornitza Stark Gene: gldc has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.987 GLDC Zornitza Stark reviewed gene: GLDC: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycine encephalopathy, MIM# 605899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.987 GLB1 Zornitza Stark Marked gene: GLB1 as ready
Genomic newborn screening: BabyScreen+ v0.987 GLB1 Zornitza Stark Gene: glb1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.987 GLB1 Zornitza Stark Phenotypes for gene: GLB1 were changed from Gangliosidosis GM1 to GM1-gangliosidosis, type I MIM#230500; GM1-gangliosidosis, type II MIM# 230600; GM1-gangliosidosis, type III MIM#230650; Mucopolysaccharidosis type IVB (Morquio) MIM#253010
Genomic newborn screening: BabyScreen+ v0.986 GLB1 Zornitza Stark Publications for gene: GLB1 were set to
Genomic newborn screening: BabyScreen+ v0.985 GLB1 Zornitza Stark Classified gene: GLB1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.985 GLB1 Zornitza Stark Gene: glb1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.984 GLB1 Zornitza Stark reviewed gene: GLB1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: GM1-gangliosidosis, type I MIM#230500, GM1-gangliosidosis, type II MIM# 230600, GM1-gangliosidosis, type III MIM#230650, Mucopolysaccharidosis type IVB (Morquio) MIM#253010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.984 F10 Zornitza Stark Marked gene: F10 as ready
Genomic newborn screening: BabyScreen+ v0.984 F10 Zornitza Stark Gene: f10 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.984 F10 Zornitza Stark Classified gene: F10 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.984 F10 Zornitza Stark Gene: f10 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.983 F10 Zornitza Stark Tag for review tag was added to gene: F10.
Genomic newborn screening: BabyScreen+ v0.983 F10 Zornitza Stark reviewed gene: F10: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor X deficiency, MIM# 227600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.983 FTL Zornitza Stark Marked gene: FTL as ready
Genomic newborn screening: BabyScreen+ v0.983 FTL Zornitza Stark Gene: ftl has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.983 FTL Zornitza Stark Phenotypes for gene: FTL were changed from Neuroferritinopathy to Neurodegeneration with brain iron accumulation 3, MIM# 606159
Genomic newborn screening: BabyScreen+ v0.982 FTL Zornitza Stark Classified gene: FTL as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.982 FTL Zornitza Stark Gene: ftl has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.981 FTL Zornitza Stark reviewed gene: FTL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration with brain iron accumulation 3, MIM# 606159; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.981 FXN Zornitza Stark Marked gene: FXN as ready
Genomic newborn screening: BabyScreen+ v0.981 FXN Zornitza Stark Gene: fxn has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.981 FXN Zornitza Stark Phenotypes for gene: FXN were changed from Friedreich ataxia to Friedreich ataxia MONDO:0100339
Genomic newborn screening: BabyScreen+ v0.980 FXN Zornitza Stark Classified gene: FXN as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.980 FXN Zornitza Stark Gene: fxn has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.979 FXN Zornitza Stark reviewed gene: FXN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Friedreich ataxia MONDO:0100339; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.979 EZH2 Zornitza Stark Marked gene: EZH2 as ready
Genomic newborn screening: BabyScreen+ v0.979 EZH2 Zornitza Stark Gene: ezh2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.979 EZH2 Zornitza Stark Phenotypes for gene: EZH2 were changed from Weaver syndrome 2 to Weaver syndrome MIM#277590
Genomic newborn screening: BabyScreen+ v0.978 EZH2 Zornitza Stark Classified gene: EZH2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.978 EZH2 Zornitza Stark Gene: ezh2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.977 EZH2 Zornitza Stark reviewed gene: EZH2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Weaver syndrome MIM#277590; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.977 EYA4 Zornitza Stark Marked gene: EYA4 as ready
Genomic newborn screening: BabyScreen+ v0.977 EYA4 Zornitza Stark Gene: eya4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.977 EYA4 Zornitza Stark Phenotypes for gene: EYA4 were changed from Deafness, autosomal dominant to Deafness, autosomal dominant 10, MIM# 601316
Genomic newborn screening: BabyScreen+ v0.976 EYA4 Zornitza Stark Classified gene: EYA4 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.976 EYA4 Zornitza Stark Gene: eya4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.975 EYA4 Zornitza Stark reviewed gene: EYA4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 10, MIM# 601316; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.975 EYA1 Zornitza Stark Marked gene: EYA1 as ready
Genomic newborn screening: BabyScreen+ v0.975 EYA1 Zornitza Stark Gene: eya1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.975 EYA1 Zornitza Stark Phenotypes for gene: EYA1 were changed from Branchiootorenal syndrome to Anterior segment anomalies with or without cataract MIM#602588; Branchiootic syndrome 1 MIM#602588; Branchiootorenal syndrome 1, with or without cataracts MIM#113650
Genomic newborn screening: BabyScreen+ v0.974 EYA1 Zornitza Stark Classified gene: EYA1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.974 EYA1 Zornitza Stark Gene: eya1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.973 EYA1 Zornitza Stark reviewed gene: EYA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Anterior segment anomalies with or without cataract MIM#602588, Branchiootic syndrome 1 MIM#602588, Branchiootorenal syndrome 1, with or without cataracts MIM#113650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.973 EXT2 Zornitza Stark Marked gene: EXT2 as ready
Genomic newborn screening: BabyScreen+ v0.973 EXT2 Zornitza Stark Gene: ext2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.973 EXT2 Zornitza Stark Phenotypes for gene: EXT2 were changed from Exostoses, multiple, type 2 to Seizures, scoliosis, and macrocephaly syndrome, MIM#616682
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+ v0.971 EXT2 Zornitza Stark Classified gene: EXT2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.971 EXT2 Zornitza Stark Gene: ext2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.970 EXT2 Zornitza Stark reviewed gene: EXT2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Seizures, scoliosis, and macrocephaly syndrome, MIM#616682; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.970 EXT1 Zornitza Stark Marked gene: EXT1 as ready
Genomic newborn screening: BabyScreen+ v0.970 EXT1 Zornitza Stark Gene: ext1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.970 EXT1 Zornitza Stark Phenotypes for gene: EXT1 were changed from Exostoses, multiple, type 1 to Exostoses, multiple, type 1, MIM# 133700
Genomic newborn screening: BabyScreen+ v0.969 EXT1 Zornitza Stark Classified gene: EXT1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.969 EXT1 Zornitza Stark Gene: ext1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.968 EXT1 Zornitza Stark reviewed gene: EXT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Exostoses, multiple, type 1, MIM# 133700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.968 EVC2 Zornitza Stark Marked gene: EVC2 as ready
Genomic newborn screening: BabyScreen+ v0.968 EVC2 Zornitza Stark Gene: evc2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.968 EVC2 Zornitza Stark Phenotypes for gene: EVC2 were changed from Ellis-van Creveld syndrome to Ellis-van Creveld syndrome, MIM# 225500; Weyers acrofacial dysostosis, MIM# 193530
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+ v0.966 EVC2 Zornitza Stark Classified gene: EVC2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.966 EVC2 Zornitza Stark Gene: evc2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.965 EVC2 Zornitza Stark reviewed gene: EVC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ellis-van Creveld syndrome, MIM# 225500, Weyers acrofacial dysostosis, MIM# 193530; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.965 EVC Zornitza Stark Marked gene: EVC as ready
Genomic newborn screening: BabyScreen+ v0.965 EVC Zornitza Stark Gene: evc has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.965 EVC Zornitza Stark Phenotypes for gene: EVC were changed from Ellis-van Creveld syndrome to Ellis-van Creveld syndrome, MIM# 225500
Genomic newborn screening: BabyScreen+ v0.964 EVC Zornitza Stark Classified gene: EVC as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.964 EVC Zornitza Stark Gene: evc has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.963 EVC Zornitza Stark reviewed gene: EVC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ellis-van Creveld syndrome, MIM# 225500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.963 EFTUD2 Zornitza Stark Classified gene: EFTUD2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.963 EFTUD2 Zornitza Stark Gene: eftud2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.962 EFTUD2 Zornitza Stark edited their review of gene: EFTUD2: Changed rating: RED
Genomic newborn screening: BabyScreen+ v0.962 ESRRB Zornitza Stark Marked gene: ESRRB as ready
Genomic newborn screening: BabyScreen+ v0.962 ESRRB Zornitza Stark Gene: esrrb has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.962 ESRRB Zornitza Stark Phenotypes for gene: ESRRB were changed from Hearing loss to Deafness, autosomal recessive 35, MIM#608565
Genomic newborn screening: BabyScreen+ v0.961 ESRRB Zornitza Stark reviewed gene: ESRRB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 35, MIM#608565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.961 ESPN Zornitza Stark Marked gene: ESPN as ready
Genomic newborn screening: BabyScreen+ v0.961 ESPN Zornitza Stark Gene: espn has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.961 ESPN Zornitza Stark reviewed gene: ESPN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 36, MIM# 609006; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.961 ESCO2 Zornitza Stark Marked gene: ESCO2 as ready
Genomic newborn screening: BabyScreen+ v0.961 ESCO2 Zornitza Stark Gene: esco2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.961 ESCO2 Zornitza Stark Phenotypes for gene: ESCO2 were changed from Roberts syndrome to Juberg-Hayward syndrome, MIM# 216100; Roberts-SC phocomelia syndrome, MIM#268300
Genomic newborn screening: BabyScreen+ v0.960 ESCO2 Zornitza Stark Classified gene: ESCO2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.960 ESCO2 Zornitza Stark Gene: esco2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.959 ESCO2 Zornitza Stark reviewed gene: ESCO2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Juberg-Hayward syndrome, MIM# 216100, Roberts-SC phocomelia syndrome, MIM#268300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.959 ERCC8 Zornitza Stark Marked gene: ERCC8 as ready
Genomic newborn screening: BabyScreen+ v0.959 ERCC8 Zornitza Stark Gene: ercc8 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.959 ERCC8 Zornitza Stark Phenotypes for gene: ERCC8 were changed from Cockayne syndrome to Cockayne syndrome, type A, MIM# 216400; MONDO:0019569
Genomic newborn screening: BabyScreen+ v0.958 ERCC8 Zornitza Stark Classified gene: ERCC8 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.958 ERCC8 Zornitza Stark Gene: ercc8 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.957 ERCC8 Zornitza Stark reviewed gene: ERCC8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cockayne syndrome, type A, MIM# 216400, MONDO:0019569; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.957 ERCC6 Zornitza Stark Marked gene: ERCC6 as ready
Genomic newborn screening: BabyScreen+ v0.957 ERCC6 Zornitza Stark Gene: ercc6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.957 ERCC6 Zornitza Stark Phenotypes for gene: ERCC6 were changed from Cockayne syndrome to Cerebrooculofacioskeletal syndrome 1, MIM# 214150 MONDO:0008955; Cockayne syndrome, type B, MIM# 133540 MONDO:0019570; De Sanctis-Cacchione syndrome, MIM# 278800 MONDO:0010217; UV-sensitive syndrome 1, MIM# 600630 MONDO:0010909
Genomic newborn screening: BabyScreen+ v0.956 ERCC6 Zornitza Stark Classified gene: ERCC6 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.956 ERCC6 Zornitza Stark Gene: ercc6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.955 ERCC6 Zornitza Stark reviewed gene: ERCC6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebrooculofacioskeletal syndrome 1, MIM# 214150 MONDO:0008955, Cockayne syndrome, type B, MIM# 133540 MONDO:0019570, De Sanctis-Cacchione syndrome, MIM# 278800 MONDO:0010217, UV-sensitive syndrome 1, MIM# 600630 MONDO:0010909; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.955 ERCC5 Zornitza Stark Marked gene: ERCC5 as ready
Genomic newborn screening: BabyScreen+ v0.955 ERCC5 Zornitza Stark Gene: ercc5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.955 ERCC5 Zornitza Stark Phenotypes for gene: ERCC5 were changed from Xeroderma pigmentosum to Cerebrooculofacioskeletal syndrome 3, MIM# 616570 MONDO:0014696; Xeroderma pigmentosum, group G/Cockayne syndrome, MIM# 278780 MONDO:0010216
Genomic newborn screening: BabyScreen+ v0.954 ERCC5 Zornitza Stark Classified gene: ERCC5 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.954 ERCC5 Zornitza Stark Gene: ercc5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.953 ERCC5 Zornitza Stark Tag for review tag was added to gene: ERCC5.
Genomic newborn screening: BabyScreen+ v0.953 ERCC5 Zornitza Stark reviewed gene: ERCC5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebrooculofacioskeletal syndrome 3, MIM# 616570 MONDO:0014696, Xeroderma pigmentosum, group G/Cockayne syndrome, MIM# 278780 MONDO:0010216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.953 ERCC2 Zornitza Stark Marked gene: ERCC2 as ready
Genomic newborn screening: BabyScreen+ v0.953 ERCC2 Zornitza Stark Gene: ercc2 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.953 ERCC2 Zornitza Stark Phenotypes for gene: ERCC2 were changed from Xeroderma pigmentosum to Xeroderma pigmentosum, group D, MIM# 278730
Genomic newborn screening: BabyScreen+ v0.952 ERCC2 Zornitza Stark Classified gene: ERCC2 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.952 ERCC2 Zornitza Stark Gene: ercc2 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.951 ERCC2 Zornitza Stark Tag for review tag was added to gene: ERCC2.
Genomic newborn screening: BabyScreen+ v0.951 ERCC2 Zornitza Stark reviewed gene: ERCC2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Xeroderma pigmentosum, group D, MIM# 278730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.951 EPS8L2 Zornitza Stark Marked gene: EPS8L2 as ready
Genomic newborn screening: BabyScreen+ v0.951 EPS8L2 Zornitza Stark Gene: eps8l2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.951 EPS8L2 Zornitza Stark Classified gene: EPS8L2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.951 EPS8L2 Zornitza Stark Gene: eps8l2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.950 EPS8L2 Zornitza Stark reviewed gene: EPS8L2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness autosomal recessive 106, MIM# 617637; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.950 GLB1 John Christodoulou edited their review of gene: GLB1: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.950 GLDC John Christodoulou edited their review of gene: GLDC: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.950 GLDC John Christodoulou changed review comment from: causes nonketotic hyperglycaemia

classical form presents in the neonatal period and treatments (eg sodium benzoate and NDMA receptor antagonists) do not alter the neurological trajectory

milder forms of the disorder (later onset, but still in early childhood), may show response to therapy (PMID: 21411353); potentially aided by phenotype-genotype correlations (PMID: 32421718); to: causes nonketotic hyperglycaemia

classical form presents in the neonatal period and treatments (eg sodium benzoate and NDMA receptor antagonists) do not alter the neurological trajectory

milder forms of the disorder (later onset, but still in early childhood), may show response to therapy (PMID: 21411353); potentially aided by phenotype-genotype correlations (PMID: 32421718)
Genomic newborn screening: BabyScreen+ v0.950 GLRA1 John Christodoulou edited their review of gene: GLRA1: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.950 GLUD1 John Christodoulou reviewed gene: GLUD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35752848; Phenotypes: hyperinsulinism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.950 GLRA1 John Christodoulou reviewed gene: GLRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32319239, PMID: 25356525; Phenotypes: hyperekplexia, stiffness, developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.950 GLDC John Christodoulou reviewed gene: GLDC: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 16404748, PMID: 34513771; Phenotypes: acute encephalopathy, seizures, intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.950 GLB1 John Christodoulou reviewed gene: GLB1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 34539759; Phenotypes: neurodegeneration, coarse facial features, gingival hyperplasia, cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.950 GLA John Christodoulou reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30017653; Phenotypes: neuropathic pain, cardiomyopathy, cataract, agniokeratomata, deafness, hypohidrosis, stroke, renal failure; Mode of inheritance: 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+ v0.950 GIF John Christodoulou reviewed gene: GIF: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35337622; Phenotypes: pernicious anaemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.950 GGCX John Christodoulou edited their review of gene: GGCX: Changed phenotypes: bleeding disorder, pseudoxanthoma elasticum, pigmentary retinopathy, congenital heart disease
Genomic newborn screening: BabyScreen+ v0.950 GGCX John Christodoulou changed review comment from: can have its onset in the newborn period and can be severe

treatable with vitamin K; to: can have its onset in the newborn period and can be severe

treatable with vitamin K
Genomic newborn screening: BabyScreen+ v0.950 GGCX John Christodoulou reviewed gene: GGCX: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28125048; Phenotypes: bleeding disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.950 EPS8 Zornitza Stark Marked gene: EPS8 as ready
Genomic newborn screening: BabyScreen+ v0.950 EPS8 Zornitza Stark Gene: eps8 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.950 EPS8 Zornitza Stark Phenotypes for gene: EPS8 were changed from deafness MIM#600205 to Autosomal recessive nonsyndromic hearing loss 102, MIM#600205, MONDO:0014428
Genomic newborn screening: BabyScreen+ v0.949 EPS8 Zornitza Stark edited their review of gene: EPS8: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.949 EPS8 Zornitza Stark reviewed gene: EPS8: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Autosomal recessive nonsyndromic hearing loss 102, MIM# MONDO:0014428; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.949 EPM2A Zornitza Stark Marked gene: EPM2A as ready
Genomic newborn screening: BabyScreen+ v0.949 EPM2A Zornitza Stark Gene: epm2a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.949 EPM2A Zornitza Stark Phenotypes for gene: EPM2A were changed from Epilepsy, progressive myoclonic 2A (Lafora) to Lafora disease MONDO:0009697
Genomic newborn screening: BabyScreen+ v0.948 EPM2A Zornitza Stark Classified gene: EPM2A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.948 EPM2A Zornitza Stark Gene: epm2a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.947 EPM2A Zornitza Stark reviewed gene: EPM2A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lafora disease MONDO:0009697; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.947 ENPP1 Zornitza Stark Marked gene: ENPP1 as ready
Genomic newborn screening: BabyScreen+ v0.947 ENPP1 Zornitza Stark Gene: enpp1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.947 ENPP1 Zornitza Stark Phenotypes for gene: ENPP1 were changed from Arterial calcification, generalized, of infancy, 1 to Arterial calcification, generalized, of infancy, 1, MIM# 208000; Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312
Genomic newborn screening: BabyScreen+ v0.946 ENPP1 Zornitza Stark changed review comment from: Bi-allelic variants:
GACI: well established gene-disease association, multiple families and mouse models.

Hypophosphataemic rickets: multiple families reported, some with features of GACI.

Reported variants are spread throughout the phosphodiesterase catalytic domain and nuclease-like domain. No genotype-phenotype correlation, variability even within the same family. These likely represent a spectrum of a single disorder, rather than two distinct disorders.

Should be able to distinguish clinically.

Treatment: etidronate, anti-hypertensive, calcitriol and oral phosphate supplements; to: Bi-allelic variants:
GACI: well established gene-disease association, multiple families and mouse models.

Hypophosphataemic rickets: multiple families reported, some with features of GACI.

Reported variants are spread throughout the phosphodiesterase catalytic domain and nuclease-like domain. No genotype-phenotype correlation, variability even within the same family. These likely represent a spectrum of a single disorder, rather than two distinct disorders.

Should be able to distinguish clinically.

Onset is congenital/early infancy.

Treatment: etidronate, anti-hypertensive, calcitriol and oral phosphate supplements
Genomic newborn screening: BabyScreen+ v0.946 ENPP1 Zornitza Stark Tag treatable tag was added to gene: ENPP1.
Genomic newborn screening: BabyScreen+ v0.946 ENPP1 Zornitza Stark reviewed gene: ENPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arterial calcification, generalized, of infancy, 1, MIM# 208000, Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.946 TTC7A Zornitza Stark Marked gene: TTC7A as ready
Genomic newborn screening: BabyScreen+ v0.946 TTC7A Zornitza Stark Gene: ttc7a has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.946 TTC7A Zornitza Stark Publications for gene: TTC7A were set to
Genomic newborn screening: BabyScreen+ v0.945 TTC7A Zornitza Stark Classified gene: TTC7A as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.945 TTC7A Zornitza Stark Gene: ttc7a has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.944 TTC7A Zornitza Stark Tag for review tag was added to gene: TTC7A.
Genomic newborn screening: BabyScreen+ v0.944 TTC37 Zornitza Stark Marked gene: TTC37 as ready
Genomic newborn screening: BabyScreen+ v0.944 TTC37 Zornitza Stark Gene: ttc37 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.944 TTC37 Zornitza Stark Phenotypes for gene: TTC37 were changed from Trichohepatoenteric syndrome to Trichohepatoenteric syndrome 1, MIM#222470
Genomic newborn screening: BabyScreen+ v0.943 TTC37 Zornitza Stark Publications for gene: TTC37 were set to
Genomic newborn screening: BabyScreen+ v0.942 TTC37 Zornitza Stark Classified gene: TTC37 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.942 TTC37 Zornitza Stark Gene: ttc37 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.941 TTC21B Zornitza Stark Marked gene: TTC21B as ready
Genomic newborn screening: BabyScreen+ v0.941 TTC21B Zornitza Stark Gene: ttc21b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.941 TTC21B Zornitza Stark Publications for gene: TTC21B were set to 25492405; 33875766; 18327258; 21258341
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+ v0.939 TTC21B Zornitza Stark Classified gene: TTC21B as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.939 TTC21B Zornitza Stark Gene: ttc21b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.938 TSR2 Zornitza Stark Marked gene: TSR2 as ready
Genomic newborn screening: BabyScreen+ v0.938 TSR2 Zornitza Stark Gene: tsr2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.938 TSR2 Zornitza Stark Publications for gene: TSR2 were set to
Genomic newborn screening: BabyScreen+ v0.937 TSR2 Zornitza Stark Classified gene: TSR2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.937 TSR2 Zornitza Stark Gene: tsr2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.936 TSHR Zornitza Stark Marked gene: TSHR as ready
Genomic newborn screening: BabyScreen+ v0.936 TSHR Zornitza Stark Gene: tshr has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.936 TSHR Zornitza Stark Phenotypes for gene: TSHR were changed from Hypothyroidism to Hypothyroidism, congenital, nongoitrous, 1 - MIM#275200
Genomic newborn screening: BabyScreen+ v0.935 TSHR Zornitza Stark Publications for gene: TSHR were set to
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+ v0.933 TSHB Zornitza Stark Marked gene: TSHB as ready
Genomic newborn screening: BabyScreen+ v0.933 TSHB Zornitza Stark Gene: tshb has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.933 TSHB Zornitza Stark Phenotypes for gene: TSHB were changed from Hypothryoidism, congenital, nongoitrous 4 to Hypothyroidism, congenital, nongoitrous 4, MIM#275100
Genomic newborn screening: BabyScreen+ v0.932 TSHB Zornitza Stark Publications for gene: TSHB were set to
Genomic newborn screening: BabyScreen+ v0.931 TSHB Zornitza Stark Tag treatable tag was added to gene: TSHB.
Genomic newborn screening: BabyScreen+ v0.931 TSEN54 Zornitza Stark Marked gene: TSEN54 as ready
Genomic newborn screening: BabyScreen+ v0.931 TSEN54 Zornitza Stark Gene: tsen54 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.931 TSEN54 Zornitza Stark Phenotypes for gene: TSEN54 were changed from Pontocerebellar hypoplasia type 4 to Pontocerebellar hypoplasia type 2A MIM#277470
Genomic newborn screening: BabyScreen+ v0.930 TSEN54 Zornitza Stark Publications for gene: TSEN54 were set to
Genomic newborn screening: BabyScreen+ v0.929 TSEN54 Zornitza Stark Classified gene: TSEN54 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.929 TSEN54 Zornitza Stark Gene: tsen54 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.928 TSC2 Zornitza Stark Marked gene: TSC2 as ready
Genomic newborn screening: BabyScreen+ v0.928 TSC2 Zornitza Stark Gene: tsc2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.928 TSC2 Zornitza Stark Publications for gene: TSC2 were set to
Genomic newborn screening: BabyScreen+ v0.927 TSC2 Zornitza Stark Tag for review tag was added to gene: TSC2.
Genomic newborn screening: BabyScreen+ v0.927 TSC1 Zornitza Stark Marked gene: TSC1 as ready
Genomic newborn screening: BabyScreen+ v0.927 TSC1 Zornitza Stark Gene: tsc1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.927 TSC1 Zornitza Stark Publications for gene: TSC1 were set to
Genomic newborn screening: BabyScreen+ v0.926 TSC1 Zornitza Stark Tag for review tag was added to gene: TSC1.
Genomic newborn screening: BabyScreen+ v0.926 TRPM4 Zornitza Stark Marked gene: TRPM4 as ready
Genomic newborn screening: BabyScreen+ v0.926 TRPM4 Zornitza Stark Gene: trpm4 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.926 TRPM4 Zornitza Stark Phenotypes for gene: TRPM4 were changed from Cardiac conduction disease to Progressive familial heart block, type IB 604559
Genomic newborn screening: BabyScreen+ v0.925 TRPM4 Zornitza Stark Publications for gene: TRPM4 were set to
Genomic newborn screening: BabyScreen+ v0.924 TRPM4 Zornitza Stark Classified gene: TRPM4 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.924 TRPM4 Zornitza Stark Gene: trpm4 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.923 TRPM4 Zornitza Stark Tag for review tag was added to gene: TRPM4.
Genomic newborn screening: BabyScreen+ v0.923 TRMU Zornitza Stark Marked gene: TRMU as ready
Genomic newborn screening: BabyScreen+ v0.923 TRMU Zornitza Stark Gene: trmu has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.923 TRMU Zornitza Stark Phenotypes for gene: TRMU were changed from Liver failure, transient infantile to Liver failure, transient infantile MIM# 613070
Genomic newborn screening: BabyScreen+ v0.922 TRMU Zornitza Stark Publications for gene: TRMU were set to
Genomic newborn screening: BabyScreen+ v0.921 TRMU Zornitza Stark Tag treatable tag was added to gene: TRMU.
Genomic newborn screening: BabyScreen+ v0.921 TRIOBP Zornitza Stark Marked gene: TRIOBP as ready
Genomic newborn screening: BabyScreen+ v0.921 TRIOBP Zornitza Stark Gene: triobp has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.921 TRIOBP Zornitza Stark Phenotypes for gene: TRIOBP were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 28, MIM#609823
Genomic newborn screening: BabyScreen+ v0.920 TRIOBP Zornitza Stark Publications for gene: TRIOBP were set to
Genomic newborn screening: BabyScreen+ v0.919 TRIM37 Zornitza Stark Marked gene: TRIM37 as ready
Genomic newborn screening: BabyScreen+ v0.919 TRIM37 Zornitza Stark Gene: trim37 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.919 TRIM37 Zornitza Stark Phenotypes for gene: TRIM37 were changed from Mulibrey nanism syndrome to Mulibrey nanism MIM#253250
Genomic newborn screening: BabyScreen+ v0.918 TRIM37 Zornitza Stark Publications for gene: TRIM37 were set to
Genomic newborn screening: BabyScreen+ v0.917 TRIM37 Zornitza Stark Classified gene: TRIM37 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.917 TRIM37 Zornitza Stark Gene: trim37 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.916 TRIM37 Zornitza Stark reviewed gene: TRIM37: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mulibrey nanism MIM#253250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.916 ENG Zornitza Stark Publications for gene: ENG were set to
Genomic newborn screening: BabyScreen+ v0.915 ENG Zornitza Stark Classified gene: ENG as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.915 ENG Zornitza Stark Gene: eng has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.914 ENG Zornitza Stark edited their review of gene: ENG: Changed publications: 32894695
Genomic newborn screening: BabyScreen+ v0.914 ENG Zornitza Stark changed review comment from: Well established gene disease association.

Clingen: strong actionability in adults
Although HHT is a developmental disorder and infants are occasionally severely affected, in most people the features are age-dependent and the diagnosis is not suspected until adolescence or later. The average age of onset for epistaxis is 12 years, with 50-80% of patients affected before the age of 20 and 78-96% developing it eventually. Most patients report the appearance of telangiectasia of the mouth, face, or hands 5-30 years after the onset of nose bleeds, most commonly during the third decade. GI bleeding, when present, usually presents in the 5th or 6th decades of life. Patients rarely develop significant GI bleeding before 40 years of age. Women are affected with GI bleeding in a ratio of 2-3:1. AVMs of the brain are typically present at birth, whereas those in the lung and liver typically develop over time. Hemorrhage is often the presenting symptom of cerebral AVMs, while visceral AVMs may cause transient ischemic attacks, embolic stroke, and cerebral or other abscesses. Hepatic AVMs can present as high-output heart failure, portal hypertension, or biliary disease.

However, screening guidelines recommend screening for cerebral AVMs in first 6 months of life or at diagnosis (MRI).

For review.; to: Well established gene disease association.

Clingen: strong actionability in adults
Although HHT is a developmental disorder and infants are occasionally severely affected, in most people the features are age-dependent and the diagnosis is not suspected until adolescence or later. The average age of onset for epistaxis is 12 years, with 50-80% of patients affected before the age of 20 and 78-96% developing it eventually. Most patients report the appearance of telangiectasia of the mouth, face, or hands 5-30 years after the onset of nose bleeds, most commonly during the third decade. GI bleeding, when present, usually presents in the 5th or 6th decades of life. Patients rarely develop significant GI bleeding before 40 years of age. Women are affected with GI bleeding in a ratio of 2-3:1. AVMs of the brain are typically present at birth, whereas those in the lung and liver typically develop over time. Hemorrhage is often the presenting symptom of cerebral AVMs, while visceral AVMs may cause transient ischemic attacks, embolic stroke, and cerebral or other abscesses. Hepatic AVMs can present as high-output heart failure, portal hypertension, or biliary disease.

However, screening guidelines recommend screening for cerebral AVMs in first 6 months of life or at diagnosis (MRI). Management guidelines also suggest screening in asymptomatic children for pulmonary AVMs, PMID 32894695.
Genomic newborn screening: BabyScreen+ v0.914 ENG Zornitza Stark edited their review of gene: ENG: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.914 ENG Zornitza Stark Marked gene: ENG as ready
Genomic newborn screening: BabyScreen+ v0.914 ENG Zornitza Stark Gene: eng has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.914 ENG Zornitza Stark Phenotypes for gene: ENG were changed from Telangiectasia, hereditary hemorrhagic, type 1 to Telangiectasia, hereditary hemorrhagic, type 1 MIM#187300
Genomic newborn screening: BabyScreen+ v0.913 ENG Zornitza Stark Classified gene: ENG as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.913 ENG Zornitza Stark Gene: eng has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.912 ENG Zornitza Stark reviewed gene: ENG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 1 MIM#187300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.912 EMD Zornitza Stark Marked gene: EMD as ready
Genomic newborn screening: BabyScreen+ v0.912 EMD Zornitza Stark Gene: emd has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.912 EMD Zornitza Stark Phenotypes for gene: EMD were changed from Muscular dystrophy, Emery-Dreifuss to Emery-Dreifuss muscular dystrophy 1, X-linked MIM#310300
Genomic newborn screening: BabyScreen+ v0.911 EMD Zornitza Stark Classified gene: EMD as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.911 EMD Zornitza Stark Gene: emd has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.910 EMD Zornitza Stark Tag for review tag was added to gene: EMD.
Genomic newborn screening: BabyScreen+ v0.910 EMD Zornitza Stark reviewed gene: EMD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Emery-Dreifuss muscular dystrophy 1, X-linked MIM#310300; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.910 ELP1 Zornitza Stark Marked gene: ELP1 as ready
Genomic newborn screening: BabyScreen+ v0.910 ELP1 Zornitza Stark Gene: elp1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.910 ELP1 Zornitza Stark Phenotypes for gene: ELP1 were changed from Dysautonomia, familial to Dysautonomia, familial MIM#223900; paediatric medulloblastoma
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+ v0.908 ELP1 Zornitza Stark Classified gene: ELP1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.908 ELP1 Zornitza Stark Gene: elp1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.907 ELP1 Zornitza Stark reviewed gene: ELP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dysautonomia, familial MIM#223900, paediatric medulloblastoma; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.907 ELN Zornitza Stark Marked gene: ELN as ready
Genomic newborn screening: BabyScreen+ v0.907 ELN Zornitza Stark Gene: eln has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.907 ELN Zornitza Stark Phenotypes for gene: ELN were changed from Supravalvar aortic stenosis to cutis laxa, autosomal dominant 1 MONDO:0007411; supravalvular aortic stenosis MONDO:0008504
Genomic newborn screening: BabyScreen+ v0.906 ELN Zornitza Stark Classified gene: ELN as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.906 ELN Zornitza Stark Gene: eln has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.905 ELN Zornitza Stark reviewed gene: ELN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: cutis laxa, autosomal dominant 1 MONDO:0007411, supravalvular aortic stenosis MONDO:0008504; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.905 ELANE Zornitza Stark Marked gene: ELANE as ready
Genomic newborn screening: BabyScreen+ v0.905 ELANE Zornitza Stark Gene: elane has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.905 ELANE Zornitza Stark Phenotypes for gene: ELANE were changed from Neutropenia, congenital, MIM#202700 to Neutropenia, congenital, MIM#202700
Genomic newborn screening: BabyScreen+ v0.904 ELANE Zornitza Stark reviewed gene: ELANE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neutropaenia, severe congenital 1, autosomal dominant, MIM# 202700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.904 EIF2AK3 Zornitza Stark Marked gene: EIF2AK3 as ready
Genomic newborn screening: BabyScreen+ v0.904 EIF2AK3 Zornitza Stark Gene: eif2ak3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.904 EIF2AK3 Zornitza Stark reviewed gene: EIF2AK3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wolcott-Rallison syndrome MONDO:0009192; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.904 EGR2 Zornitza Stark Marked gene: EGR2 as ready
Genomic newborn screening: BabyScreen+ v0.904 EGR2 Zornitza Stark Gene: egr2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.904 EGR2 Zornitza Stark Phenotypes for gene: EGR2 were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, type 1D 607678; Dejerine-Sottas disease 145900; Hypomyelinating neuropathy, congenital, 1, MIM# 605253
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+ v0.902 EGR2 Zornitza Stark Classified gene: EGR2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.902 EGR2 Zornitza Stark Gene: egr2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.901 EGR2 Zornitza Stark reviewed gene: EGR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 1D 607678, Dejerine-Sottas disease 145900, Hypomyelinating neuropathy, congenital, 1 605253 AD, AR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.901 EFTUD2 Zornitza Stark Marked gene: EFTUD2 as ready
Genomic newborn screening: BabyScreen+ v0.901 EFTUD2 Zornitza Stark Gene: eftud2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.901 EFTUD2 Zornitza Stark Phenotypes for gene: EFTUD2 were changed from Mandibulofacial dysostosis with microcephaly to Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536
Genomic newborn screening: BabyScreen+ v0.900 EFTUD2 Zornitza Stark reviewed gene: EFTUD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.900 EFL1 Zornitza Stark Marked gene: EFL1 as ready
Genomic newborn screening: BabyScreen+ v0.900 EFL1 Zornitza Stark Gene: efl1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.900 EFL1 Zornitza Stark edited their review of gene: EFL1: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.900 EFL1 Zornitza Stark reviewed gene: EFL1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Shwachman-Diamond syndrome 2, MIM# 617941; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.900 EDNRB Zornitza Stark Marked gene: EDNRB as ready
Genomic newborn screening: BabyScreen+ v0.900 EDNRB Zornitza Stark Gene: ednrb has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.900 EDNRB Zornitza Stark reviewed gene: EDNRB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Waardenburg syndrome type 4A MONDO:0010192; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.900 EDN3 Zornitza Stark Marked gene: EDN3 as ready
Genomic newborn screening: BabyScreen+ v0.900 EDN3 Zornitza Stark Gene: edn3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.900 EDN3 Zornitza Stark Phenotypes for gene: EDN3 were changed from Waardenburg syndrome to Waardenburg syndrome, type 4B, MIM# 613265
Genomic newborn screening: BabyScreen+ v0.899 EDN3 Zornitza Stark reviewed gene: EDN3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Waardenburg syndrome, type 4B, MIM# 613265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.899 EDARADD Zornitza Stark Marked gene: EDARADD as ready
Genomic newborn screening: BabyScreen+ v0.899 EDARADD Zornitza Stark Gene: edaradd has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.899 EDARADD Zornitza Stark Phenotypes for gene: EDARADD were changed from Ectodermal dysplasia, hypohidrotic to autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884; autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619
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+ v0.897 EDARADD Zornitza Stark Classified gene: EDARADD as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.897 EDARADD Zornitza Stark Gene: edaradd has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.896 EDARADD Zornitza Stark reviewed gene: EDARADD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884, autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.896 EDAR Zornitza Stark Marked gene: EDAR as ready
Genomic newborn screening: BabyScreen+ v0.896 EDAR Zornitza Stark Gene: edar has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.896 EDAR Zornitza Stark Phenotypes for gene: EDAR were changed from Ectodermal dysplasia, hypohidrotic to autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884; autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619
Genomic newborn screening: BabyScreen+ v0.895 EDAR Zornitza Stark Classified gene: EDAR as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.895 EDAR Zornitza Stark Gene: edar has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.894 EDAR Zornitza Stark reviewed gene: EDAR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884, autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.894 EDA Zornitza Stark Marked gene: EDA as ready
Genomic newborn screening: BabyScreen+ v0.894 EDA Zornitza Stark Gene: eda has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.894 EDA Zornitza Stark Phenotypes for gene: EDA were changed from Ectodermal dysplasia, hypohidrotic to Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100; Tooth agenesis, selective, X-linked 1 MIM#313500
Genomic newborn screening: BabyScreen+ v0.893 EDA Zornitza Stark Classified gene: EDA as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.893 EDA Zornitza Stark Gene: eda has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.892 EDA Zornitza Stark reviewed gene: EDA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100, Tooth agenesis, selective, X-linked 1 MIM#313500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.892 DYSF Zornitza Stark Marked gene: DYSF as ready
Genomic newborn screening: BabyScreen+ v0.892 DYSF Zornitza Stark Gene: dysf has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.892 DYSF Zornitza Stark Phenotypes for gene: DYSF were changed from Miyoshi muscular dystrophy 1; Muscular dystrophy, limb-girdle, type 2B to Miyoshi muscular dystrophy 1 254130; Muscular dystrophy, limb-girdle, autosomal recessive 2 253601; Myopathy, distal, with anterior tibial onset 606768
Genomic newborn screening: BabyScreen+ v0.891 DYSF Zornitza Stark Classified gene: DYSF as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.891 DYSF Zornitza Stark Gene: dysf has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.890 DYSF Zornitza Stark reviewed gene: DYSF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Miyoshi muscular dystrophy 1 254130, Muscular dystrophy, limb-girdle, autosomal recessive 2 253601, Myopathy, distal, with anterior tibial onset 606768; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.890 DUOXA2 Zornitza Stark Marked gene: DUOXA2 as ready
Genomic newborn screening: BabyScreen+ v0.890 DUOXA2 Zornitza Stark Gene: duoxa2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.890 DUOXA2 Zornitza Stark Tag treatable tag was added to gene: DUOXA2.
Genomic newborn screening: BabyScreen+ v0.890 DUOXA2 Zornitza Stark reviewed gene: DUOXA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid dyshormonogenesis 5, MIM# 274900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.890 TRIM37 Lilian Rudd reviewed gene: TRIM37: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 7735507, PMID: 30586926; Phenotypes: Mulibrey nanism MIM#253250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.890 TRIOBP Lilian Rudd reviewed gene: TRIOBP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:16385457, 16385458; Phenotypes: Deafness, autosomal recessive 28 MIM#609823; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.890 TRMU Lilian Rudd edited their review of gene: TRMU: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.890 TRMU Lilian Rudd changed review comment from: Onset first 6 months of life
Acute liver failure, transient
Treatment: N-acetylcysteine and L-cysteine, liver transplantation; to: Established gene disease association
Onset first 6 months of life
Acute liver failure, transient
Treatment: N-acetylcysteine and L-cysteine, liver transplantation
Genomic newborn screening: BabyScreen+ v0.890 TRMU Lilian Rudd Deleted their comment
Genomic newborn screening: BabyScreen+ v0.890 TRMU Lilian Rudd commented on gene: TRMU: Onset first 6 months of life
Acute liver failure, transient
Treatment: N-acetylcysteine and L-cysteine, liver transplantation
Genomic newborn screening: BabyScreen+ v0.890 TRMU Lilian Rudd reviewed gene: TRMU: Rating: ; Mode of pathogenicity: None; Publications: PubMed: 19732863, PMID: 36305855; Phenotypes: Liver failure, transient infantile MIM# 613070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.890 TRPM4 Lilian Rudd reviewed gene: TRPM4: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 19726882, PMID: 33381229; Phenotypes: Progressive familial heart block, type IB 604559; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.890 TSC1 Lilian Rudd reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301399; Phenotypes: Tuberous sclerosis-1 MIM#191100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.890 TSC2 Lilian Rudd reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21309039, PMID: 11112665, PMID: 24053983 , PMID: 20301399; Phenotypes: Tuberous sclerosis-2 MIM#613254; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.890 TSEN54 Lilian Rudd reviewed gene: TSEN54: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301773; Phenotypes: Pontocerebellar hypoplasia type 2A MIM#277470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.890 TSHB Lilian Rudd reviewed gene: TSHB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31166470, PMID: 35102753, MID: 31384098; Phenotypes: Hypothyroidism, congenital, nongoitrous 4 MIM#275100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.890 TSHR Lilian Rudd reviewed gene: TSHR: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 8981017, PMID: 20515734; Phenotypes: HYPERTHYROIDISM, FAMILIAL GESTATIONAL HYPERTHYROIDISM, NONAUTOIMMUNE HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, CHNG1; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.890 TSR2 Lilian Rudd reviewed gene: TSR2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 24942156, 11424144; Phenotypes: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis MIM#300946; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.890 TTC21B Lilian Rudd reviewed gene: TTC21B: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 21258341, PMID: 25492405, PMID: 33547761; Phenotypes: NEPHRONOPHTHISIS, SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.890 TTC37 Lilian Rudd reviewed gene: TTC37: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29527791, PMID: 29334452; Phenotypes: Trichohepatoenteric syndrome 1 MIM#222470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.890 TTC7A Lilian Rudd reviewed gene: TTC7A: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30553809, PMID: 34975848, PMID: 33746097; Phenotypes: Gastrointestinal defects and immunodeficiency syndrome MIM#243150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.890 DUOX2 Zornitza Stark Marked gene: DUOX2 as ready
Genomic newborn screening: BabyScreen+ v0.890 DUOX2 Zornitza Stark Gene: duox2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.890 DUOX2 Zornitza Stark Phenotypes for gene: DUOX2 were changed from Thyroid dyshormonogenesis to Thyroid dyshormonogenesis 6, MIM# 607200
Genomic newborn screening: BabyScreen+ v0.889 DUOX2 Zornitza Stark Tag treatable tag was added to gene: DUOX2.
Genomic newborn screening: BabyScreen+ v0.889 DUOX2 Zornitza Stark reviewed gene: DUOX2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid dyshormonogenesis 6, MIM# 607200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.889 DOK7 Zornitza Stark Marked gene: DOK7 as ready
Genomic newborn screening: BabyScreen+ v0.889 DOK7 Zornitza Stark Gene: dok7 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.889 DOK7 Zornitza Stark Tag treatable tag was added to gene: DOK7.
Genomic newborn screening: BabyScreen+ v0.889 DOK7 Zornitza Stark reviewed gene: DOK7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 10, MIM# 254300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.889 DOCK8 Zornitza Stark Marked gene: DOCK8 as ready
Genomic newborn screening: BabyScreen+ v0.889 DOCK8 Zornitza Stark Gene: dock8 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.889 DOCK8 Zornitza Stark Tag treatable tag was added to gene: DOCK8.
Genomic newborn screening: BabyScreen+ v0.889 DOCK8 Zornitza Stark reviewed gene: DOCK8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyper-IgE recurrent infection syndrome, autosomal recessive, MIM# 243700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.889 DNMT3B Zornitza Stark Tag treatable tag was added to gene: DNMT3B.
Genomic newborn screening: BabyScreen+ v0.889 DNMT3B Zornitza Stark Marked gene: DNMT3B as ready
Genomic newborn screening: BabyScreen+ v0.889 DNMT3B Zornitza Stark Gene: dnmt3b has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.889 DNMT3B Zornitza Stark Phenotypes for gene: DNMT3B were changed from Immunodeficiency-centromeric instability-facial anomalies syndrome 1 to Immunodeficiency-centromeric instability-facial anomalies syndrome 1, MIM# 242860
Genomic newborn screening: BabyScreen+ v0.888 DNMT3B Zornitza Stark reviewed gene: DNMT3B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency-centromeric instability-facial anomalies syndrome 1, MIM# 242860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.888 DNM2 Zornitza Stark Marked gene: DNM2 as ready
Genomic newborn screening: BabyScreen+ v0.888 DNM2 Zornitza Stark Gene: dnm2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.888 DNM2 Zornitza Stark Phenotypes for gene: DNM2 were changed from Charcot-Marie-Tooth disease, axonal, type 2M; Myopathy, centronuclear to Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482 Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482
Genomic newborn screening: BabyScreen+ v0.887 DNM2 Zornitza Stark Classified gene: DNM2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.887 DNM2 Zornitza Stark Gene: dnm2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.886 DNM2 Zornitza Stark reviewed gene: DNM2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482 Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.886 DNAJB6 Zornitza Stark Marked gene: DNAJB6 as ready
Genomic newborn screening: BabyScreen+ v0.886 DNAJB6 Zornitza Stark Gene: dnajb6 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.886 DNAJB6 Zornitza Stark Phenotypes for gene: DNAJB6 were changed from Muscular dystrophy, limb girdle to Muscular dystrophy, limb-girdle, autosomal dominant 1 MIM#603511
Genomic newborn screening: BabyScreen+ v0.885 DNAJB6 Zornitza Stark reviewed gene: DNAJB6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal dominant 1 MIM#603511; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.885 DNAI1 Zornitza Stark Marked gene: DNAI1 as ready
Genomic newborn screening: BabyScreen+ v0.885 DNAI1 Zornitza Stark Gene: dnai1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.885 DNAI1 Zornitza Stark Phenotypes for gene: DNAI1 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM# 244400
Genomic newborn screening: BabyScreen+ v0.884 DNAI1 Zornitza Stark Classified gene: DNAI1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.884 DNAI1 Zornitza Stark Gene: dnai1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.883 DNAI1 Zornitza Stark reviewed gene: DNAI1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM# 244400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.883 DNAH5 Zornitza Stark Marked gene: DNAH5 as ready
Genomic newborn screening: BabyScreen+ v0.883 DNAH5 Zornitza Stark Gene: dnah5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.883 DNAH5 Zornitza Stark Phenotypes for gene: DNAH5 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 3, with or without situs inversus, MIM# 608644
Genomic newborn screening: BabyScreen+ v0.882 DNAH5 Zornitza Stark Classified gene: DNAH5 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.882 DNAH5 Zornitza Stark Gene: dnah5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.881 DNAH5 Zornitza Stark reviewed gene: DNAH5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 3, with or without situs inversus, MIM# 608644; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.881 DNAH11 Zornitza Stark Marked gene: DNAH11 as ready
Genomic newborn screening: BabyScreen+ v0.881 DNAH11 Zornitza Stark Gene: dnah11 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.881 DNAH11 Zornitza Stark Phenotypes for gene: DNAH11 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884
Genomic newborn screening: BabyScreen+ v0.880 DNAH11 Zornitza Stark Classified gene: DNAH11 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.880 DNAH11 Zornitza Stark Gene: dnah11 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.879 DNAH11 Zornitza Stark reviewed gene: DNAH11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.879 DNAAF1 Zornitza Stark Marked gene: DNAAF1 as ready
Genomic newborn screening: BabyScreen+ v0.879 DNAAF1 Zornitza Stark Gene: dnaaf1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.879 DNAAF1 Zornitza Stark Phenotypes for gene: DNAAF1 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 13, MIM# 613193
Genomic newborn screening: BabyScreen+ v0.878 DNAAF1 Zornitza Stark Classified gene: DNAAF1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.878 DNAAF1 Zornitza Stark Gene: dnaaf1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.877 DNAAF1 Zornitza Stark reviewed gene: DNAAF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 13, MIM# 613193; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.877 DMXL2 Zornitza Stark Marked gene: DMXL2 as ready
Genomic newborn screening: BabyScreen+ v0.877 DMXL2 Zornitza Stark Gene: dmxl2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.877 DMXL2 Zornitza Stark Classified gene: DMXL2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.877 DMXL2 Zornitza Stark Gene: dmxl2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.876 DMXL2 Zornitza Stark reviewed gene: DMXL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 81, MIM# 618663; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.876 DMP1 Zornitza Stark Marked gene: DMP1 as ready
Genomic newborn screening: BabyScreen+ v0.876 DMP1 Zornitza Stark Gene: dmp1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.876 DMP1 Zornitza Stark Phenotypes for gene: DMP1 were changed from Hypophosphatemic rickets, AR to Hypophosphatemic rickets MIM#241520
Genomic newborn screening: BabyScreen+ v0.875 DMP1 Zornitza Stark reviewed gene: DMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypophosphatemic rickets MIM#241520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.875 DLL3 Zornitza Stark Marked gene: DLL3 as ready
Genomic newborn screening: BabyScreen+ v0.875 DLL3 Zornitza Stark Gene: dll3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.875 DLL3 Zornitza Stark Phenotypes for gene: DLL3 were changed from Spondylocostal dysostosis, autosomal recessive, 1 to Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300
Genomic newborn screening: BabyScreen+ v0.874 DLL3 Zornitza Stark Classified gene: DLL3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.874 DLL3 Zornitza Stark Gene: dll3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.873 DLL3 Zornitza Stark reviewed gene: DLL3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.873 DIAPH1 Zornitza Stark Marked gene: DIAPH1 as ready
Genomic newborn screening: BabyScreen+ v0.873 DIAPH1 Zornitza Stark Gene: diaph1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.873 DIAPH1 Zornitza Stark Phenotypes for gene: DIAPH1 were changed from Deafness, autosomal dominant 1, with or without thrombocytopenia MIM#124900 to Seizures, cortical blindness, microcephaly syndrome, MIM# 616632; Deafness, autosomal dominant 1, with or without thrombocytopenia, MIM# 124900
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+ v0.871 DIAPH1 Zornitza Stark Classified gene: DIAPH1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.871 DIAPH1 Zornitza Stark Gene: diaph1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.870 DIAPH1 Zornitza Stark reviewed gene: DIAPH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Seizures, cortical blindness, microcephaly syndrome, MIM# 616632, Deafness, autosomal dominant 1, with or without thrombocytopenia, MIM# 124900; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.870 DFNB59 Zornitza Stark Marked gene: DFNB59 as ready
Genomic newborn screening: BabyScreen+ v0.870 DFNB59 Zornitza Stark Gene: dfnb59 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.870 DFNB59 Zornitza Stark Phenotypes for gene: DFNB59 were changed from Hearing loss to Deafness, autosomal recessive 59, MIM# 610220
Genomic newborn screening: BabyScreen+ v0.869 DFNB59 Zornitza Stark Tag new gene name tag was added to gene: DFNB59.
Genomic newborn screening: BabyScreen+ v0.869 DFNB59 Zornitza Stark commented on gene: DFNB59: DEFINITIVE by ClinGen, over 50 affected individuals from more than 10 families reported, supportive functional data including animal models.

New HGNC name is PJVK.

Hearing loss is pre-lingual, therefore include.

Treatment: hearing aids/cochlear implant.
Genomic newborn screening: BabyScreen+ v0.869 DFNB59 Zornitza Stark reviewed gene: DFNB59: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 59, MIM# 610220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.869 DFNA5 Zornitza Stark Marked gene: DFNA5 as ready
Genomic newborn screening: BabyScreen+ v0.869 DFNA5 Zornitza Stark Gene: dfna5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.869 DFNA5 Zornitza Stark Phenotypes for gene: DFNA5 were changed from Hearing loss to Deafness, autosomal dominant 5, MIM# 600994
Genomic newborn screening: BabyScreen+ v0.868 DFNA5 Zornitza Stark Classified gene: DFNA5 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.868 DFNA5 Zornitza Stark Gene: dfna5 has been classified as Red List (Low Evidence).
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 DFNA5 Zornitza Stark commented on gene: DFNA5: Assessed as DEFINITIVE by ClinGen, over a 150 affected individuals reported, supportive functional data including animal models.

New HGNC approved name is GSDME.

However, age of onset is typically 11-50, therefore exclude.
Genomic newborn screening: BabyScreen+ v0.867 DFNA5 Zornitza Stark reviewed gene: DFNA5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 5, MIM# 600994; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.867 PALB2 Zornitza Stark Tag for review was removed from gene: PALB2.
Genomic newborn screening: BabyScreen+ v0.867 GFAP Zornitza Stark changed review comment from: Clinical trial due to start in VIC. Age at entry is 2 years and older.; to: Clinical trial due to start in VIC. Age at entry is 2 years and older.

Keep on Amber list.
Genomic newborn screening: BabyScreen+ v0.867 GFAP Zornitza Stark changed review comment from: Clinical trial due to start in VIC.; to: Clinical trial due to start in VIC. Age at entry is 2 years and older.
Genomic newborn screening: BabyScreen+ v0.867 SCN8A Zornitza Stark Classified gene: SCN8A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.867 SCN8A Zornitza Stark Gene: scn8a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.866 SCN8A Zornitza Stark Tag for review was removed from gene: SCN8A.
Genomic newborn screening: BabyScreen+ v0.866 SCN8A Zornitza Stark reviewed gene: SCN8A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 13, MIM#614558; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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+ v0.866 TYR Zornitza Stark changed review comment from: Treatment is supportive.

For review.; to: Diagnosis is clinical. Treatment is supportive.
Genomic newborn screening: BabyScreen+ v0.866 APC Zornitza Stark Classified gene: APC as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.866 APC Zornitza Stark Gene: apc has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.865 APC Zornitza Stark Tag for review was removed from gene: APC.
Genomic newborn screening: BabyScreen+ v0.865 LAMA2 Zornitza Stark Classified gene: LAMA2 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.865 LAMA2 Zornitza Stark Gene: lama2 has been classified as Green List (High Evidence).
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 edited their review of gene: LAMA2: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.864 LAMA2 Zornitza Stark changed review comment from: No specific treatment.; to: No specific treatment.
Succinylcholine in induction of anaesthesia because of risk of hyperkalaemia and cardiac conduction abnormalities; statins, cholesterol-lowering medications, because of the risk of muscle damage.
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 DGUOK Zornitza Stark changed review comment from: Well established gene disease association.

Variable age of onset ranging from severe neonatal presentations to adult.

See comments below about treatment: emerging approaches.

For review.; to: Well established gene disease association.

Variable age of onset ranging from severe neonatal presentations to adult.

See comments below about treatment: emerging approaches. May not be eligible for liver transplant due to multi-system involvement.

For review.
Genomic newborn screening: BabyScreen+ v0.864 ALAS2 Zornitza Stark Tag for review was removed from gene: ALAS2.
Genomic newborn screening: BabyScreen+ v0.864 DDB2 Zornitza Stark Marked gene: DDB2 as ready
Genomic newborn screening: BabyScreen+ v0.864 DDB2 Zornitza Stark Gene: ddb2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.864 ACVRL1 Zornitza Stark Publications for gene: ACVRL1 were set to
Genomic newborn screening: BabyScreen+ v0.863 ACVRL1 Zornitza Stark Classified gene: ACVRL1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.863 ACVRL1 Zornitza Stark Gene: acvrl1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.862 ACVRL1 Zornitza Stark Tag for review was removed from gene: ACVRL1.
Genomic newborn screening: BabyScreen+ v0.862 ACVRL1 Zornitza Stark changed review comment from: Well established gene-disease association.

Variable age of symptom onset and severity.

No specific treatment available.

However, management guidelines suggest screening in asymptomatic children for pulmonary AVMs, PMID 32894695.; to: Well established gene-disease association.

Variable age of symptom onset and severity.

No specific treatment available but emboli zing AVMs alters their natural history.

Management guidelines suggest screening in asymptomatic children for pulmonary AVMs, PMID 32894695.
Genomic newborn screening: BabyScreen+ v0.862 ACVRL1 Zornitza Stark edited their review of gene: ACVRL1: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.862 PCBD1 Zornitza Stark Tag for review was removed from gene: PCBD1.
Genomic newborn screening: BabyScreen+ v0.862 PCBD1 Zornitza Stark changed review comment from: Well established gene-disease association.

Presents in the neonatal period: characterized by mild transient hyperphenylalaninemia often detected by newborn screening. Patients also show increased excretion of 7-biopterin. Affected individuals are asymptomatic and show normal psychomotor development, although transient neurologic deficits in infancy have been reported. Patients may also develop hypomagnesemia and non-autoimmune diabetes mellitus during puberty.
; to: Well established gene-disease association.

Presents in the neonatal period: characterized by mild transient hyperphenylalaninemia often detected by newborn screening. Patients also show increased excretion of 7-biopterin. Affected individuals are asymptomatic and show normal psychomotor development, although transient neurologic deficits in infancy have been reported. Patients may also develop hypomagnesemia and non-autoimmune diabetes mellitus during puberty.
Genomic newborn screening: BabyScreen+ v0.862 GFPT1 Zornitza Stark Marked gene: GFPT1 as ready
Genomic newborn screening: BabyScreen+ v0.862 GFPT1 Zornitza Stark Gene: gfpt1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.862 GFPT1 Zornitza Stark Classified gene: GFPT1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.862 GFPT1 Zornitza Stark Gene: gfpt1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.861 GFPT1 Zornitza Stark reviewed gene: GFPT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenia, congenital, 12, with tubular aggregates, MIM#610542; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.861 GFPT1 Zornitza Stark Tag for review was removed from gene: GFPT1.
Genomic newborn screening: BabyScreen+ v0.861 GFM1 Zornitza Stark Marked gene: GFM1 as ready
Genomic newborn screening: BabyScreen+ v0.861 GFM1 Zornitza Stark Gene: gfm1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.861 GFM1 Zornitza Stark Phenotypes for gene: GFM1 were changed from Combined oxidative phosphorylation deficiency 1 to Combined oxidative phosphorylation deficiency 1, MIM#609060
Genomic newborn screening: BabyScreen+ v0.860 GFM1 Zornitza Stark Classified gene: GFM1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.860 GFM1 Zornitza Stark Gene: gfm1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.859 GFM1 Zornitza Stark reviewed gene: GFM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 1, MIM#609060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.859 GFAP Zornitza Stark Marked gene: GFAP as ready
Genomic newborn screening: BabyScreen+ v0.859 GFAP Zornitza Stark Gene: gfap has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.859 GFAP Zornitza Stark Phenotypes for gene: GFAP were changed from Alexander disease to Alexander disease, MIM#203450
Genomic newborn screening: BabyScreen+ v0.858 GFAP Zornitza Stark Classified gene: GFAP as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.858 GFAP Zornitza Stark Gene: gfap has been classified as Amber List (Moderate Evidence).
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+ v0.857 GFAP Zornitza Stark reviewed gene: GFAP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alexander disease, MIM#203450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.857 PALB2 Zornitza Stark Marked gene: PALB2 as ready
Genomic newborn screening: BabyScreen+ v0.857 PALB2 Zornitza Stark Gene: palb2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.857 PALB2 Zornitza Stark reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anaemia, complementation group N, OMIM 610832; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.857 DHCR7 Zornitza Stark Classified gene: DHCR7 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.857 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.856 DHCR7 Zornitza Stark changed review comment from: Well established gene-disease association.

Perinatal onset.

Cholesterol supplementation accepted as standard treatment. Questionable to what extent treatment improves outcomes. Not listed as treatable on rx-genes.

For review.; to: Well established gene-disease association.

Perinatal onset.

Cholesterol supplementation accepted as standard treatment. Questionable to what extent treatment improves outcomes but some improvement seen in metabolic parameters, and behavioural manifestations.
Genomic newborn screening: BabyScreen+ v0.856 DHCR7 Zornitza Stark changed review comment from: Well established gene-disease association.

Perinatal onset.

Questionable to what extent treatment improves outcomes. Not listed as treatable on rx-genes.

For review.; to: Well established gene-disease association.

Perinatal onset.

Cholesterol supplementation accepted as standard treatment. Questionable to what extent treatment improves outcomes. Not listed as treatable on rx-genes.

For review.
Genomic newborn screening: BabyScreen+ v0.856 DHCR7 Zornitza Stark edited their review of gene: DHCR7: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.856 DHCR7 Zornitza Stark Tag for review was removed from gene: DHCR7.
Genomic newborn screening: BabyScreen+ v0.856 SERPINA1 Zornitza Stark Classified gene: SERPINA1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.856 SERPINA1 Zornitza Stark Gene: serpina1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.855 SERPINA1 Zornitza Stark Tag for review was removed from gene: SERPINA1.
Genomic newborn screening: BabyScreen+ v0.855 SERPINA1 Zornitza Stark reviewed gene: SERPINA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Emphysema-cirrhosis, due to AAT deficiency, MIM# 613490; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.855 UROD Zornitza Stark Classified gene: UROD as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.855 UROD Zornitza Stark Gene: urod has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.854 DDB2 Zornitza Stark Phenotypes for gene: DDB2 were changed from Xeroderma pigmentosum to Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740
Genomic newborn screening: BabyScreen+ v0.853 DDB2 Zornitza Stark Publications for gene: DDB2 were set to
Genomic newborn screening: BabyScreen+ v0.852 DDB2 Zornitza Stark Classified gene: DDB2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.852 DDB2 Zornitza Stark Gene: ddb2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.851 DDB2 Zornitza Stark edited their review of gene: DDB2: Changed rating: RED
Genomic newborn screening: BabyScreen+ v0.851 GFPT1 Alison Yeung Tag for review tag was added to gene: GFPT1.
Genomic newborn screening: BabyScreen+ v0.851 GFPT1 Alison Yeung reviewed gene: GFPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenia, congenital, 12, with tubular aggregates, MIM#610542; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.851 GFM1 Alison Yeung Tag review tag was added to gene: GFM1.
Genomic newborn screening: BabyScreen+ v0.851 GFM1 Alison Yeung reviewed gene: GFM1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 1, MIM#609060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.851 GFAP Alison Yeung Tag for review tag was added to gene: GFAP.
Genomic newborn screening: BabyScreen+ v0.851 GFAP Alison Yeung reviewed gene: GFAP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Alexander disease, MIM#203450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.851 GDAP1 Alison Yeung reviewed gene: GDAP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2K, MIM#607831, Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, MIM#607706, Charcot-Marie-Tooth disease, recessive intermediate, A, MIM#608340, Charcot-Marie-Tooth disease, type 4A, MIM#214400; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.851 DMPK Zornitza Stark Marked gene: DMPK as ready
Genomic newborn screening: BabyScreen+ v0.851 DMPK Zornitza Stark Gene: dmpk has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.851 DMPK Zornitza Stark Phenotypes for gene: DMPK were changed from Myotonic dystrophy 1 to Myotonic dystrophy 1, MIM# 160900
Genomic newborn screening: BabyScreen+ v0.850 DMPK Zornitza Stark Classified gene: DMPK as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.850 DMPK Zornitza Stark Gene: dmpk has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.849 DMPK Zornitza Stark reviewed gene: DMPK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myotonic dystrophy 1, MIM# 160900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.849 DDB2 Zornitza Stark Tag for review tag was added to gene: DDB2.
Genomic newborn screening: BabyScreen+ v0.849 DDB2 Zornitza Stark reviewed gene: DDB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32530099, 32228487; Phenotypes: Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.849 DCX Zornitza Stark Marked gene: DCX as ready
Genomic newborn screening: BabyScreen+ v0.849 DCX Zornitza Stark Gene: dcx has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.849 DCX Zornitza Stark Phenotypes for gene: DCX were changed from Lissencephaly, X-linked, MIM# 300067 to Lissencephaly, X-linked, MIM# 300067; Subcortical laminal heterotopia, X-linked 300067
Genomic newborn screening: BabyScreen+ v0.848 DCX Zornitza Stark Classified gene: DCX as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.848 DCX Zornitza Stark Gene: dcx has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.847 DCX Zornitza Stark reviewed gene: DCX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lissencephaly, X-linked, MIM# 300067, Subcortical laminal heterotopia, X-linked 300067; Mode of inheritance: 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+ v0.847 DCLRE1C Zornitza Stark Marked gene: DCLRE1C as ready
Genomic newborn screening: BabyScreen+ v0.847 DCLRE1C Zornitza Stark Gene: dclre1c has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.847 DCLRE1C Zornitza Stark Phenotypes for gene: DCLRE1C were changed from Severe combined immunodeficiency, Athabascan type, MIM#603554 to Severe combined immunodeficiency, Athabascan type MIM# 602450; Omenn syndrome, MIM# 603554
Genomic newborn screening: BabyScreen+ v0.846 DCLRE1C Zornitza Stark Tag treatable tag was added to gene: DCLRE1C.
Genomic newborn screening: BabyScreen+ v0.846 DCLRE1C Zornitza Stark reviewed gene: DCLRE1C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe combined immunodeficiency, Athabascan type MIM# 602450, Omenn syndrome, MIM# 603554; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.846 COL4A5 Zornitza Stark Marked gene: COL4A5 as ready
Genomic newborn screening: BabyScreen+ v0.846 COL4A5 Zornitza Stark Gene: col4a5 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.846 COL4A5 Zornitza Stark Phenotypes for gene: COL4A5 were changed from Alport syndrome to Alport syndrome 1, X-linked, MIM# 301050
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+ v0.844 COL4A5 Zornitza Stark reviewed gene: COL4A5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alport syndrome 1, X-linked, MIM# 301050; Mode of inheritance: 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 COL2A1 Zornitza Stark Marked gene: COL2A1 as ready
Genomic newborn screening: BabyScreen+ v0.844 COL2A1 Zornitza Stark Gene: col2a1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.844 COL2A1 Zornitza Stark Phenotypes for gene: COL2A1 were changed from Stickler syndrome to Stickler syndrome, type I, MIM# 108300
Genomic newborn screening: BabyScreen+ v0.843 COL2A1 Zornitza Stark Tag for review tag was added to gene: COL2A1.
Genomic newborn screening: BabyScreen+ v0.843 COL2A1 Zornitza Stark reviewed gene: COL2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stickler syndrome, type I, MIM# 108300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.843 COL5A2 Zornitza Stark Marked gene: COL5A2 as ready
Genomic newborn screening: BabyScreen+ v0.843 COL5A2 Zornitza Stark Gene: col5a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.843 COL5A2 Zornitza Stark Phenotypes for gene: COL5A2 were changed from Ehlers-Danlos syndrome to Ehlers-Danlos syndrome, classic type, 2 MIM#130010
Genomic newborn screening: BabyScreen+ v0.842 COL5A2 Zornitza Stark Classified gene: COL5A2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.842 COL5A2 Zornitza Stark Gene: col5a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.841 COL5A2 Zornitza Stark reviewed gene: COL5A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, classic type, 2 MIM#130010; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.841 COL7A1 Zornitza Stark Marked gene: COL7A1 as ready
Genomic newborn screening: BabyScreen+ v0.841 COL7A1 Zornitza Stark Gene: col7a1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.841 COL7A1 Zornitza Stark Phenotypes for gene: COL7A1 were changed from Epidermolysis bullosa dystrophica to EBD inversa, MIM# 226600; EBD, Bart type MIM# 132000 EBD, localisata variant; Epidermolysis bullosa dystrophica, MIM# 131750; Epidermolysis bullosa dystrophica, 226600; Epidermolysis bullosa pruriginosa 604129; Epidermolysis bullosa, pretibial, MIM# 131850; Transient bullous of the newborn 131705
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+ v0.839 COL7A1 Zornitza Stark Classified gene: COL7A1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.839 COL7A1 Zornitza Stark Gene: col7a1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.838 COL7A1 Zornitza Stark reviewed gene: COL7A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: EBD inversa, MIM# 226600, EBD, Bart type MIM# 132000 EBD, localisata variant, Epidermolysis bullosa dystrophica, MIM# 131750, Epidermolysis bullosa dystrophica, 226600, Epidermolysis bullosa pruriginosa 604129, Epidermolysis bullosa, pretibial, MIM# 131850, Transient bullous of the newborn 131705; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.838 TWIST1 Zornitza Stark Marked gene: TWIST1 as ready
Genomic newborn screening: BabyScreen+ v0.838 TWIST1 Zornitza Stark Gene: twist1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.838 TWIST1 Zornitza Stark Phenotypes for gene: TWIST1 were changed from Saethre-Chotzen syndrome to Craniosynostosis 1, MIM# 123100; Saethre-Chotzen syndrome with or without eyelid anomalies, MIM# 101400; Sweeny-Cox syndrome, MIM# 617746; Robinow-Sorauf syndrome, MIM# 180750
Genomic newborn screening: BabyScreen+ v0.837 TWIST1 Zornitza Stark Publications for gene: TWIST1 were set to
Genomic newborn screening: BabyScreen+ v0.836 TWIST1 Zornitza Stark Classified gene: TWIST1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.836 TWIST1 Zornitza Stark Gene: twist1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.835 TWIST1 Zornitza Stark reviewed gene: TWIST1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniosynostosis 1, MIM# 123100, Saethre-Chotzen syndrome with or without eyelid anomalies, MIM# 101400, Sweeny-Cox syndrome, MIM# 617746, Robinow-Sorauf syndrome, MIM# 180750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.835 TWNK Zornitza Stark Marked gene: TWNK as ready
Genomic newborn screening: BabyScreen+ v0.835 TWNK Zornitza Stark Gene: twnk has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.835 TWNK Zornitza Stark Phenotypes for gene: TWNK were changed from Spinocerebellar ataxia infantile-onset to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245
Genomic newborn screening: BabyScreen+ v0.834 TWNK Zornitza Stark Publications for gene: TWNK were set to
Genomic newborn screening: BabyScreen+ v0.833 TWNK Zornitza Stark Classified gene: TWNK as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.833 TWNK Zornitza Stark Gene: twnk has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.832 TYMP Zornitza Stark Marked gene: TYMP as ready
Genomic newborn screening: BabyScreen+ v0.832 TYMP Zornitza Stark Gene: tymp has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.832 TYMP Zornitza Stark Phenotypes for gene: TYMP were changed from Mitochondrial DNA depletion syndrome to Mitochondrial DNA depletion syndrome 1 (MNGIE type) MIM#603041
Genomic newborn screening: BabyScreen+ v0.831 TYMP Zornitza Stark Publications for gene: TYMP were set to
Genomic newborn screening: BabyScreen+ v0.830 TYMP Zornitza Stark Classified gene: TYMP as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.830 TYMP Zornitza Stark Gene: tymp has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.829 TYR Zornitza Stark Marked gene: TYR as ready
Genomic newborn screening: BabyScreen+ v0.829 TYR Zornitza Stark Gene: tyr has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.829 TYR Zornitza Stark Phenotypes for gene: TYR were changed from Albinism, oculocutaneous 1 to Oculocutaneous albinism type 1 MIM## 203100, # 606952
Genomic newborn screening: BabyScreen+ v0.828 TYR Zornitza Stark Publications for gene: TYR were set to
Genomic newborn screening: BabyScreen+ v0.827 TYR Zornitza Stark Classified gene: TYR as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.827 TYR Zornitza Stark Gene: tyr has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.826 TYR Zornitza Stark Tag for review tag was added to gene: TYR.
Genomic newborn screening: BabyScreen+ v0.826 TYR Zornitza Stark reviewed gene: TYR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Oculocutaneous albinism type 1 MIM## 203100, # 606952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.826 UBE2T Zornitza Stark Marked gene: UBE2T as ready
Genomic newborn screening: BabyScreen+ v0.826 UBE2T Zornitza Stark Gene: ube2t has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.826 UBE2T Zornitza Stark Publications for gene: UBE2T were set to
Genomic newborn screening: BabyScreen+ v0.825 UBE2T Zornitza Stark Tag treatable tag was added to gene: UBE2T.
Genomic newborn screening: BabyScreen+ v0.825 UBE2T Zornitza Stark reviewed gene: UBE2T: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anaemia, complementation group T MIM#616435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.825 COL5A1 Zornitza Stark Marked gene: COL5A1 as ready
Genomic newborn screening: BabyScreen+ v0.825 COL5A1 Zornitza Stark Gene: col5a1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.825 COL5A1 Zornitza Stark Phenotypes for gene: COL5A1 were changed from Ehlers-Danlos syndrome, type I to Ehlers-Danlos syndrome, classic type, 1, MIM# 130000; Fibromuscular dysplasia, multifocal, MIM# 619329
Genomic newborn screening: BabyScreen+ v0.824 COL5A1 Zornitza Stark Classified gene: COL5A1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.824 COL5A1 Zornitza Stark Gene: col5a1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.823 COL5A1 Zornitza Stark reviewed gene: COL5A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, classic type, 1, MIM# 130000, Fibromuscular dysplasia, multifocal, MIM# 619329; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.823 COL6A3 Zornitza Stark Marked gene: COL6A3 as ready
Genomic newborn screening: BabyScreen+ v0.823 COL6A3 Zornitza Stark Gene: col6a3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.823 COL6A3 Zornitza Stark Phenotypes for gene: COL6A3 were changed from Ullrich congenital muscular dystrophy to Bethlem myopathy 1 MIM#158810; Dystonia 27 MIM#616411; Ullrich congenital muscular dystrophy 1 MIM#254090
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+ v0.821 COL6A3 Zornitza Stark Classified gene: COL6A3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.821 COL6A3 Zornitza Stark Gene: col6a3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.820 COL6A3 Zornitza Stark reviewed gene: COL6A3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bethlem myopathy 1 MIM#158810, Dystonia 27 MIM#616411, Ullrich congenital muscular dystrophy 1 MIM#254090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.820 COL6A2 Zornitza Stark Marked gene: COL6A2 as ready
Genomic newborn screening: BabyScreen+ v0.820 COL6A2 Zornitza Stark Gene: col6a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.820 COL6A2 Zornitza Stark Phenotypes for gene: COL6A2 were changed from Ullrich congenital muscular dystrophy to Bethlem myopathy 1 MIM#158810; Ullrich congenital muscular dystrophy 1 MIM#254090
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+ v0.818 COL6A2 Zornitza Stark Classified gene: COL6A2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.818 COL6A2 Zornitza Stark Gene: col6a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.817 COL6A2 Zornitza Stark reviewed gene: COL6A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bethlem myopathy 1 MIM#158810, Ullrich congenital muscular dystrophy 1 MIM#254090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.817 COL6A1 Zornitza Stark Marked gene: COL6A1 as ready
Genomic newborn screening: BabyScreen+ v0.817 COL6A1 Zornitza Stark Gene: col6a1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.817 COL6A1 Zornitza Stark Phenotypes for gene: COL6A1 were changed from Ullrich congenital muscular dystrophy to Bethlem myopathy MIM#158810; Ullrich congenital muscular dystrophy MIM#254090
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+ v0.815 COL6A1 Zornitza Stark Classified gene: COL6A1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.815 COL6A1 Zornitza Stark Gene: col6a1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.814 COL6A1 Zornitza Stark reviewed gene: COL6A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bethlem myopathy MIM#158810, Ullrich congenital muscular dystrophy MIM#254090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.814 COL9A3 Zornitza Stark Marked gene: COL9A3 as ready
Genomic newborn screening: BabyScreen+ v0.814 COL9A3 Zornitza Stark Gene: col9a3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.814 COL9A3 Zornitza Stark Phenotypes for gene: COL9A3 were changed from Stickler syndrome to Stickler syndrome, type VI, MIM# 620022
Genomic newborn screening: BabyScreen+ v0.813 COL9A3 Zornitza Stark Tag for review tag was added to gene: COL9A3.
Genomic newborn screening: BabyScreen+ v0.813 COL9A3 Zornitza Stark reviewed gene: COL9A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stickler syndrome, type VI, MIM# 620022; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.813 TTPA Zornitza Stark Marked gene: TTPA as ready
Genomic newborn screening: BabyScreen+ v0.813 TTPA Zornitza Stark Gene: ttpa has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.813 TTPA Zornitza Stark Phenotypes for gene: TTPA were changed from Ataxia with isolated vitamin E deficiency to Ataxia with isolated vitamin E deficiency MIM#277460
Genomic newborn screening: BabyScreen+ v0.812 TTPA Zornitza Stark Publications for gene: TTPA were set to
Genomic newborn screening: BabyScreen+ v0.811 TTPA Zornitza Stark Tag treatable tag was added to gene: TTPA.
Genomic newborn screening: BabyScreen+ v0.811 TTR Zornitza Stark Marked gene: TTR as ready
Genomic newborn screening: BabyScreen+ v0.811 TTR Zornitza Stark Gene: ttr has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.811 TTR Zornitza Stark Phenotypes for gene: TTR were changed from Amyloidosis, hereditary, transthyretin-related to Amyloidosis, hereditary, transthyretin-related MIM#105210
Genomic newborn screening: BabyScreen+ v0.810 TTR Zornitza Stark Publications for gene: TTR were set to
Genomic newborn screening: BabyScreen+ v0.809 TTR Zornitza Stark Classified gene: TTR as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.809 TTR Zornitza Stark Gene: ttr has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.808 PDX1 Zornitza Stark Marked gene: PDX1 as ready
Genomic newborn screening: BabyScreen+ v0.808 PDX1 Zornitza Stark Gene: pdx1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.808 PDX1 Zornitza Stark Phenotypes for gene: PDX1 were changed from Pancreatic agenesis, MIM# # 260370 to Pancreatic agenesis, MIM# # 260370
Genomic newborn screening: BabyScreen+ v0.807 PDE4D Zornitza Stark Marked gene: PDE4D as ready
Genomic newborn screening: BabyScreen+ v0.807 PDE4D Zornitza Stark Gene: pde4d has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.807 PDE4D Zornitza Stark Phenotypes for gene: PDE4D were changed from Acrodysostosis 2, with or without hormone resistance to Acrodysostosis 2, with or without hormone resistance, MIM#614613
Genomic newborn screening: BabyScreen+ v0.806 PDE4D Zornitza Stark Classified gene: PDE4D as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.806 PDE4D Zornitza Stark Gene: pde4d has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.805 PCNT Zornitza Stark Marked gene: PCNT as ready
Genomic newborn screening: BabyScreen+ v0.805 PCNT Zornitza Stark Gene: pcnt has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.805 PCNT Zornitza Stark Phenotypes for gene: PCNT were changed from Microcephalic osteodysplastic primordial dwarfism type 2 to Microcephalic osteodysplastic primordial dwarfism, type II, 210720
Genomic newborn screening: BabyScreen+ v0.804 PCNT Zornitza Stark Classified gene: PCNT as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.804 PCNT Zornitza Stark Gene: pcnt has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.803 PCDH15 Zornitza Stark Marked gene: PCDH15 as ready
Genomic newborn screening: BabyScreen+ v0.803 PCDH15 Zornitza Stark Gene: pcdh15 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.803 PCDH15 Zornitza Stark Phenotypes for gene: PCDH15 were changed from Usher syndrome to Usher syndrome, type 1F 602083, Deafness, autosomal recessive 23 609533
Genomic newborn screening: BabyScreen+ v0.802 TTPA Lilian Rudd reviewed gene: TTPA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301419, PMID: 25614784, PMID: 20464573, PMID: 16491382; Phenotypes: Ataxia with isolated vitamin E deficiency MIM#277460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.802 TTR Lilian Rudd reviewed gene: TTR: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301373, PMID: 3032328, PMID: 29972753, PMID: 29972757; Phenotypes: Amyloidosis, hereditary, transthyretin-related MIM#105210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.802 PDX1 David Amor reviewed gene: PDX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pancreatic agenesis 1, (Permanent Neonatal Diabetes Mellitus) 260370; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.802 PDE4D David Amor reviewed gene: PDE4D: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Acrodysostosis 2, with or without hormone resistance, 614613; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.802 PCNT David Amor reviewed gene: PCNT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephalic osteodysplastic primordial dwarfism, type II, 210720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.802 PCDH15 David Amor reviewed gene: PCDH15: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Usher syndrome, type 1F 602083, Deafness, autosomal recessive 23 609533; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.802 CRTAP Zornitza Stark Marked gene: CRTAP as ready
Genomic newborn screening: BabyScreen+ v0.802 CRTAP Zornitza Stark Gene: crtap has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.802 CRTAP Zornitza Stark Phenotypes for gene: CRTAP were changed from Osteogenesis imperfecta, type VII to Osteogenesis imperfecta, type VII, MIM# MIM#610682
Genomic newborn screening: BabyScreen+ v0.801 CRTAP Zornitza Stark reviewed gene: CRTAP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteogenesis imperfecta, type VII, MIM# MIM#610682; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.801 TWIST1 Lilian Rudd reviewed gene: TWIST1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32487807 PMID: 32909287 PMID: 20301368; Phenotypes: Craniosynostosis/Saethre-Chotzen Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.801 TWNK Lilian Rudd reviewed gene: TWNK: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 16135556,19304794,17921179, 27551684, 12872260, 31823625; Phenotypes: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 MIM# 271245; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.801 TYMP Lilian Rudd reviewed gene: TYMP: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301358, PMID: 33825174, PMID: 32980811, PMID: 26264513, PMID: 19371766; Phenotypes: Mitochondrial DNA depletion syndrome 1 (MNGIE type) MIM#603041; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.801 TYR Lilian Rudd reviewed gene: TYR: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 17980020, PMID: 33599182; Phenotypes: Oculocutaneous albinism type 1 MIM## 203100, # 606952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.801 UBE2T Lilian Rudd reviewed gene: UBE2T: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32646888, PMID: 26119737, PMID: 26046368, PMID: 26085575; Phenotypes: Fanconi anemia, complementation group T MIM#616435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.801 CSF2RA Zornitza Stark Marked gene: CSF2RA as ready
Genomic newborn screening: BabyScreen+ v0.801 CSF2RA Zornitza Stark Gene: csf2ra has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.801 CSF2RA Zornitza Stark Classified gene: CSF2RA as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.801 CSF2RA Zornitza Stark Gene: csf2ra has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.800 CSF2RA Zornitza Stark reviewed gene: CSF2RA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.800 CSF3R Zornitza Stark Marked gene: CSF3R as ready
Genomic newborn screening: BabyScreen+ v0.800 CSF3R Zornitza Stark Gene: csf3r has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.800 CSF3R Zornitza Stark Phenotypes for gene: CSF3R were changed from Neutropenia, severe congenital, 7, autosomal recessive , MIM#617014; Neutrophilia, hereditary , MIM# 162830 to Neutropenia, severe congenital, 7, autosomal recessive , MIM#617014
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+ v0.798 CSF3R Zornitza Stark reviewed gene: CSF3R: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neutropenia, severe congenital, 7, autosomal recessive, MIM# 617014; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.798 UBR1 Zornitza Stark Marked gene: UBR1 as ready
Genomic newborn screening: BabyScreen+ v0.798 UBR1 Zornitza Stark Gene: ubr1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.798 UBR1 Zornitza Stark Phenotypes for gene: UBR1 were changed from Johanson-Blizzard syndrome to Johanson-Blizzard syndrome MIM#243800
Genomic newborn screening: BabyScreen+ v0.797 UBR1 Zornitza Stark Publications for gene: UBR1 were set to
Genomic newborn screening: BabyScreen+ v0.796 UBR1 Zornitza Stark Classified gene: UBR1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.796 UBR1 Zornitza Stark Gene: ubr1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.795 UGT1A1 Zornitza Stark Marked gene: UGT1A1 as ready
Genomic newborn screening: BabyScreen+ v0.795 UGT1A1 Zornitza Stark Gene: ugt1a1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.795 UGT1A1 Zornitza Stark Phenotypes for gene: UGT1A1 were changed from Crigler-Najjar syndrome to Crigler-Najjar syndrome, type I, MIM# 218800
Genomic newborn screening: BabyScreen+ v0.794 UGT1A1 Zornitza Stark Publications for gene: UGT1A1 were set to
Genomic newborn screening: BabyScreen+ v0.793 UGT1A1 Zornitza Stark Tag treatable tag was added to gene: UGT1A1.
Genomic newborn screening: BabyScreen+ v0.793 UBR1 Lilian Rudd reviewed gene: UBR1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 24599544; Phenotypes: Johanson-Blizzard syndrome MIM#243800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.793 UGT1A1 Lilian Rudd reviewed gene: UGT1A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26595536, PMID: 29448836; Phenotypes: Crigler-Najjar syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.793 CSTB Zornitza Stark Marked gene: CSTB as ready
Genomic newborn screening: BabyScreen+ v0.793 CSTB Zornitza Stark Gene: cstb has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.793 CSTB Zornitza Stark Phenotypes for gene: CSTB were changed from Epilepsy, progressive myoclonic 1A to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800
Genomic newborn screening: BabyScreen+ v0.792 CSTB Zornitza Stark Classified gene: CSTB as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.792 CSTB Zornitza Stark Gene: cstb has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.791 CSTB Zornitza Stark reviewed gene: CSTB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.791 CTC1 Zornitza Stark Marked gene: CTC1 as ready
Genomic newborn screening: BabyScreen+ v0.791 CTC1 Zornitza Stark Gene: ctc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.791 CTC1 Zornitza Stark Phenotypes for gene: CTC1 were changed from Coats plus syndrome to Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199
Genomic newborn screening: BabyScreen+ v0.790 CTC1 Zornitza Stark Classified gene: CTC1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.790 CTC1 Zornitza Stark Gene: ctc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.789 CTC1 Zornitza Stark reviewed gene: CTC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.789 CTPS1 Zornitza Stark Marked gene: CTPS1 as ready
Genomic newborn screening: BabyScreen+ v0.789 CTPS1 Zornitza Stark Gene: ctps1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.789 CTPS1 Zornitza Stark Tag treatable tag was added to gene: CTPS1.
Genomic newborn screening: BabyScreen+ v0.789 CTPS1 Zornitza Stark reviewed gene: CTPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 24, MIM# 615897; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.789 CTSK Zornitza Stark Marked gene: CTSK as ready
Genomic newborn screening: BabyScreen+ v0.789 CTSK Zornitza Stark Gene: ctsk has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.789 CTSK Zornitza Stark Phenotypes for gene: CTSK were changed from Pycnodysostosis to Pycnodysostosis - MIM#265800
Genomic newborn screening: BabyScreen+ v0.788 CTSK Zornitza Stark Classified gene: CTSK as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.788 CTSK Zornitza Stark Gene: ctsk has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.787 CTSK Zornitza Stark reviewed gene: CTSK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pycnodysostosis - MIM#265800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.787 CYP27A1 John Christodoulou changed review comment from: treatable with chenodeoxycholic acid and pravastatin; GeneReviews - www.ncbi.nlm.nih.gov/books/NBK1409/#ctx.Summary

Best effect if started early (PMID: 7964884); to: Onset of disease can be in infancy childhood, with a case made for newborn screening/genetic testing because of effective treatments being available - PMID: 33630770

treatable with chenodeoxycholic acid and pravastatin; GeneReviews - www.ncbi.nlm.nih.gov/books/NBK1409/#ctx.Summary

Best effect if started early (PMID: 7964884)
Genomic newborn screening: BabyScreen+ v0.787 PCBD1 John Christodoulou changed review comment from: is on the current VCGS newborn screening panel; to: is on the current VCGS newborn screening panel by virtue of phenylalanine being the primary first tier metabolite that is analysed.

Hyperphenylalaninaemia when present in the newborn is transient. There doesn’t appear to be cognitive impairment if untreated, but some individuals develop diabetes and/or mild hypomagnesaemia later in adolescence. There does not appear to be any evidence that any treatments in infancy would have an effect on these two late effects. See: PMID: 32456656

So, I think we can take this one off the list.
Genomic newborn screening: BabyScreen+ v0.787 CUL7 Zornitza Stark Marked gene: CUL7 as ready
Genomic newborn screening: BabyScreen+ v0.787 CUL7 Zornitza Stark Gene: cul7 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.787 CUL7 Zornitza Stark Phenotypes for gene: CUL7 were changed from 3-M syndrome to 3-M syndrome 1, MIM# 273750
Genomic newborn screening: BabyScreen+ v0.786 CUL7 Zornitza Stark Classified gene: CUL7 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.786 CUL7 Zornitza Stark Gene: cul7 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.785 CUL7 Zornitza Stark reviewed gene: CUL7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-M syndrome 1, MIM# 273750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.785 CXCR4 Zornitza Stark Marked gene: CXCR4 as ready
Genomic newborn screening: BabyScreen+ v0.785 CXCR4 Zornitza Stark Gene: cxcr4 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.785 CXCR4 Zornitza Stark Tag treatable tag was added to gene: CXCR4.
Genomic newborn screening: BabyScreen+ v0.785 CXCR4 Zornitza Stark reviewed gene: CXCR4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: WHIM syndrome, MIM# 193670; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.785 CYBA Zornitza Stark Marked gene: CYBA as ready
Genomic newborn screening: BabyScreen+ v0.785 CYBA Zornitza Stark Gene: cyba has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.785 CYBA Zornitza Stark Tag treatable tag was added to gene: CYBA.
Genomic newborn screening: BabyScreen+ v0.785 CYBA Zornitza Stark reviewed gene: CYBA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chronic granulomatous disease 4, autosomal recessive, MIM# 233690; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.785 CYBB Zornitza Stark Marked gene: CYBB as ready
Genomic newborn screening: BabyScreen+ v0.785 CYBB Zornitza Stark Gene: cybb has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.785 CYBB Zornitza Stark Tag treatable tag was added to gene: CYBB.
Genomic newborn screening: BabyScreen+ v0.785 CYBB Zornitza Stark reviewed gene: CYBB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chronic granulomatous disease, X-linked, MIM# 306400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.785 CYP4F22 Zornitza Stark Marked gene: CYP4F22 as ready
Genomic newborn screening: BabyScreen+ v0.785 CYP4F22 Zornitza Stark Gene: cyp4f22 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.785 CYP4F22 Zornitza Stark Phenotypes for gene: CYP4F22 were changed from Ichthyosis, congenital, autosomal recessive to Ichthyosis, congenital, autosomal recessive 5, MIM# 604777
Genomic newborn screening: BabyScreen+ v0.784 CYP4F22 Zornitza Stark Classified gene: CYP4F22 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.784 CYP4F22 Zornitza Stark Gene: cyp4f22 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.783 CYP4F22 Zornitza Stark reviewed gene: CYP4F22: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 5, MIM# 604777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.783 MMAB Zornitza Stark Marked gene: MMAB as ready
Genomic newborn screening: BabyScreen+ v0.783 MMAB Zornitza Stark Gene: mmab has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.783 IVD Zornitza Stark Marked gene: IVD as ready
Genomic newborn screening: BabyScreen+ v0.783 IVD Zornitza Stark Gene: ivd has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.783 GBA Zornitza Stark Marked gene: GBA as ready
Genomic newborn screening: BabyScreen+ v0.783 GBA Zornitza Stark Gene: gba has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.783 GBA Zornitza Stark Phenotypes for gene: GBA were changed from Gaucher disease 1 to Gaucher disease type 1, MIM#230800
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+ v0.782 G6PC3 Zornitza Stark Marked gene: G6PC3 as ready
Genomic newborn screening: BabyScreen+ v0.782 G6PC3 Zornitza Stark Gene: g6pc3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.782 CREBBP Zornitza Stark Marked gene: CREBBP as ready
Genomic newborn screening: BabyScreen+ v0.782 CREBBP Zornitza Stark Gene: crebbp has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.782 CREBBP Zornitza Stark Phenotypes for gene: CREBBP were changed from Rubinstein-Taybi syndrome to Rubinstein-Taybi syndrome 1, MIM# 180849; Menke-Hennekam syndrome 1, MIM# 618332
Genomic newborn screening: BabyScreen+ v0.781 CREBBP Zornitza Stark Classified gene: CREBBP as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.781 CREBBP Zornitza Stark Gene: crebbp has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.780 CREBBP Zornitza Stark reviewed gene: CREBBP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Rubinstein-Taybi syndrome 1, MIM# 180849, Menke-Hennekam syndrome 1, MIM# 618332; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.780 COL1A2 Zornitza Stark Marked gene: COL1A2 as ready
Genomic newborn screening: BabyScreen+ v0.780 COL1A2 Zornitza Stark Gene: col1a2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.780 COL1A2 Zornitza Stark Phenotypes for gene: COL1A2 were changed from Osteogenesis imperfecta, type II to Osteogenesis imperfecta, type II , MIM#166210
Genomic newborn screening: BabyScreen+ v0.779 COL1A2 Zornitza Stark reviewed gene: COL1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteogenesis imperfecta, type II , MIM#166210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.779 COL1A1 Zornitza Stark Marked gene: COL1A1 as ready
Genomic newborn screening: BabyScreen+ v0.779 COL1A1 Zornitza Stark Gene: col1a1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.779 COL1A1 Zornitza Stark Phenotypes for gene: COL1A1 were changed from Osteogenesis imperfecta, type I to Osteogenesis imperfecta, type I, MIM#166200
Genomic newborn screening: BabyScreen+ v0.778 COL1A1 Zornitza Stark Tag treatable tag was added to gene: COL1A1.
Genomic newborn screening: BabyScreen+ v0.778 COL1A1 Zornitza Stark reviewed gene: COL1A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteogenesis imperfecta, type I MIM#166200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.778 COL17A1 Zornitza Stark Marked gene: COL17A1 as ready
Genomic newborn screening: BabyScreen+ v0.778 COL17A1 Zornitza Stark Gene: col17a1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.778 COL17A1 Zornitza Stark Phenotypes for gene: COL17A1 were changed from Epidermolysis bullosa, junctional, non-Herlitz type to Epidermolysis bullosa, junctional 4, intermediate MIM#619787
Genomic newborn screening: BabyScreen+ v0.777 COL17A1 Zornitza Stark Classified gene: COL17A1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.777 COL17A1 Zornitza Stark Gene: col17a1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.776 COL17A1 Zornitza Stark reviewed gene: COL17A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional 4, intermediate MIM#619787; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.776 PHYH Zornitza Stark Marked gene: PHYH as ready
Genomic newborn screening: BabyScreen+ v0.776 PHYH Zornitza Stark Gene: phyh has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.776 PHYH Zornitza Stark Phenotypes for gene: PHYH were changed from Refsum disease to Refsum disease, MIM# 266500
Genomic newborn screening: BabyScreen+ v0.775 PHYH Zornitza Stark Classified gene: PHYH as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.775 PHYH Zornitza Stark Gene: phyh has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.774 PHYH Zornitza Stark Tag treatable tag was added to gene: PHYH.
Genomic newborn screening: BabyScreen+ v0.774 PHKG2 Zornitza Stark Marked gene: PHKG2 as ready
Genomic newborn screening: BabyScreen+ v0.774 PHKG2 Zornitza Stark Gene: phkg2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.774 PHKG2 Zornitza Stark Phenotypes for gene: PHKG2 were changed from Phosphorylase kinase deficiency to Glycogen storage disease IXc, MIM# 613027
Genomic newborn screening: BabyScreen+ v0.773 PHKG2 Zornitza Stark Tag treatable tag was added to gene: PHKG2.
Genomic newborn screening: BabyScreen+ v0.773 PHKB Zornitza Stark Marked gene: PHKB as ready
Genomic newborn screening: BabyScreen+ v0.773 PHKB Zornitza Stark Gene: phkb has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.773 PHKB Zornitza Stark Phenotypes for gene: PHKB were changed from Phosphorylase kinase deficiency to Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750; Glycogen storage disease IXb, MONDO:0009868
Genomic newborn screening: BabyScreen+ v0.772 PHKA2 Zornitza Stark Marked gene: PHKA2 as ready
Genomic newborn screening: BabyScreen+ v0.772 PHKA2 Zornitza Stark Gene: phka2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.772 PHKA2 Zornitza Stark Publications for gene: PHKA2 were set to
Genomic newborn screening: BabyScreen+ v0.771 PHKA2 Zornitza Stark Phenotypes for gene: PHKA2 were changed from Phosphorylase kinase deficiency to Glycogen storage disease, type IXa1 and a2, MIM# 306000
Genomic newborn screening: BabyScreen+ v0.770 PHGDH Zornitza Stark Marked gene: PHGDH as ready
Genomic newborn screening: BabyScreen+ v0.770 PHGDH Zornitza Stark Gene: phgdh has been classified as Green List (High Evidence).
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 Marked gene: PGM1 as ready
Genomic newborn screening: BabyScreen+ v0.770 PGM1 Zornitza Stark Gene: pgm1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.770 PGM1 Zornitza Stark Tag treatable tag was added to gene: PGM1.
Genomic newborn screening: BabyScreen+ v0.770 PFKM Zornitza Stark Marked gene: PFKM as ready
Genomic newborn screening: BabyScreen+ v0.770 PFKM Zornitza Stark Gene: pfkm has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.770 PFKM Zornitza Stark Phenotypes for gene: PFKM were changed from Glycogen storage disease 7 to Glycogen storage disease VII (MIM#232800)
Genomic newborn screening: BabyScreen+ v0.769 PFKM Zornitza Stark Publications for gene: PFKM were set to
Genomic newborn screening: BabyScreen+ v0.768 PFKM Zornitza Stark Classified gene: PFKM as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.768 PFKM Zornitza Stark Gene: pfkm has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.767 PEX7 Zornitza Stark Marked gene: PEX7 as ready
Genomic newborn screening: BabyScreen+ v0.767 PEX7 Zornitza Stark Gene: pex7 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.767 PEX7 Zornitza Stark Phenotypes for gene: PEX7 were changed from Rhizomelic chondrodysplasia punctata; Refsum disease to Peroxisome biogenesis disorder 9B, MIM# 614879; Rhizomelic chondrodysplasia punctata, type 1, MIM# 215100
Genomic newborn screening: BabyScreen+ v0.766 PEX7 Zornitza Stark Classified gene: PEX7 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.766 PEX7 Zornitza Stark Gene: pex7 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.765 PEX6 Zornitza Stark Marked gene: PEX6 as ready
Genomic newborn screening: BabyScreen+ v0.765 PEX6 Zornitza Stark Gene: pex6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.765 PEX6 Zornitza Stark Phenotypes for gene: PEX6 were changed from Zellweger syndrome to Peroxisome biogenesis disorder 4A (Zellweger) (MIM#614862)
Genomic newborn screening: BabyScreen+ v0.764 PEX6 Zornitza Stark Classified gene: PEX6 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.764 PEX6 Zornitza Stark Gene: pex6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.763 PEX5 Zornitza Stark Marked gene: PEX5 as ready
Genomic newborn screening: BabyScreen+ v0.763 PEX5 Zornitza Stark Gene: pex5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.763 PEX5 Zornitza Stark Phenotypes for gene: PEX5 were changed from Zellweger syndrome to Peroxisome biogenesis disorder 10A (Zellweger) 614882
Genomic newborn screening: BabyScreen+ v0.762 PEX5 Zornitza Stark Classified gene: PEX5 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.762 PEX5 Zornitza Stark Gene: pex5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.761 PEX3 Zornitza Stark Marked gene: PEX3 as ready
Genomic newborn screening: BabyScreen+ v0.761 PEX3 Zornitza Stark Gene: pex3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.761 PEX3 Zornitza Stark Phenotypes for gene: PEX3 were changed from Zellweger syndrome to Peroxisome biogenesis disorder 10A (Zellweger) 614882
Genomic newborn screening: BabyScreen+ v0.760 PEX3 Zornitza Stark Classified gene: PEX3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.760 PEX3 Zornitza Stark Gene: pex3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.759 PEX26 Zornitza Stark Marked gene: PEX26 as ready
Genomic newborn screening: BabyScreen+ v0.759 PEX26 Zornitza Stark Gene: pex26 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.759 PEX26 Zornitza Stark Phenotypes for gene: PEX26 were changed from Zellweger syndrome to Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872
Genomic newborn screening: BabyScreen+ v0.758 PEX26 Zornitza Stark Classified gene: PEX26 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.758 PEX26 Zornitza Stark Gene: pex26 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.757 PEX2 Zornitza Stark Marked gene: PEX2 as ready
Genomic newborn screening: BabyScreen+ v0.757 PEX2 Zornitza Stark Gene: pex2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.757 PEX2 Zornitza Stark Phenotypes for gene: PEX2 were changed from Zellweger syndrome to Peroxisome biogenesis disorder 5A (Zellweger) MIM#614866
Genomic newborn screening: BabyScreen+ v0.756 PEX2 Zornitza Stark Classified gene: PEX2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.756 PEX2 Zornitza Stark Gene: pex2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.755 PEX13 Zornitza Stark Marked gene: PEX13 as ready
Genomic newborn screening: BabyScreen+ v0.755 PEX13 Zornitza Stark Gene: pex13 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.755 PEX13 Zornitza Stark Phenotypes for gene: PEX13 were changed from Zellweger syndrome to Peroxisome biogenesis disorder 11A (Zellweger) (MIM#614883)
Genomic newborn screening: BabyScreen+ v0.754 PEX13 Zornitza Stark Classified gene: PEX13 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.754 PEX13 Zornitza Stark Gene: pex13 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.753 PEX12 Zornitza Stark Marked gene: PEX12 as ready
Genomic newborn screening: BabyScreen+ v0.753 PEX12 Zornitza Stark Gene: pex12 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.753 PEX12 Zornitza Stark Phenotypes for gene: PEX12 were changed from Zellweger syndrome to Peroxisome biogenesis disorder 3A (Zellweger) (MIM#614859)
Genomic newborn screening: BabyScreen+ v0.752 PEX12 Zornitza Stark Classified gene: PEX12 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.752 PEX12 Zornitza Stark Gene: pex12 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.751 PEX10 Zornitza Stark Marked gene: PEX10 as ready
Genomic newborn screening: BabyScreen+ v0.751 PEX10 Zornitza Stark Gene: pex10 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.751 PEX10 Zornitza Stark Phenotypes for gene: PEX10 were changed from Zellweger syndrome to Peroxisome biogenesis disorder 6A (Zellweger) (MIM#614870)
Genomic newborn screening: BabyScreen+ v0.750 PEX10 Zornitza Stark Classified gene: PEX10 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.750 PEX10 Zornitza Stark Gene: pex10 has been classified as Red List (Low Evidence).
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+ v0.749 PAX6 Zornitza Stark Marked gene: PAX6 as ready
Genomic newborn screening: BabyScreen+ v0.749 PAX6 Zornitza Stark Gene: pax6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.749 PAX6 Zornitza Stark Phenotypes for gene: PAX6 were changed from Aniridia to Aniridia, OMIM 106210
Genomic newborn screening: BabyScreen+ v0.748 PAX6 Zornitza Stark Classified gene: PAX6 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.748 PAX6 Zornitza Stark Gene: pax6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.747 PAX6 Zornitza Stark reviewed gene: PAX6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.747 PAX6 Zornitza Stark Tag for review tag was added to gene: PAX6.
Genomic newborn screening: BabyScreen+ v0.747 PAX3 Zornitza Stark Marked gene: PAX3 as ready
Genomic newborn screening: BabyScreen+ v0.747 PAX3 Zornitza Stark Gene: pax3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.747 PAX3 Zornitza Stark Phenotypes for gene: PAX3 were changed from Waardenburg syndrome to Waardenburg syndrome, type 1, OMIM 193500
Genomic newborn screening: BabyScreen+ v0.746 PANK2 Zornitza Stark Marked gene: PANK2 as ready
Genomic newborn screening: BabyScreen+ v0.746 PANK2 Zornitza Stark Gene: pank2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.746 PANK2 Zornitza Stark Phenotypes for gene: PANK2 were changed from Neurodegeneration with brain iron accumulation 1 to Neurodegeneration with brain iron accumulation 1 (aka Hallervorden-Spatz disease), OMIM 234200
Genomic newborn screening: BabyScreen+ v0.745 PANK2 Zornitza Stark Classified gene: PANK2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.745 PANK2 Zornitza Stark Gene: pank2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.744 PALB2 Zornitza Stark Tag for review tag was added to gene: PALB2.
Genomic newborn screening: BabyScreen+ v0.744 PAK3 Zornitza Stark Marked gene: PAK3 as ready
Genomic newborn screening: BabyScreen+ v0.744 PAK3 Zornitza Stark Gene: pak3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.744 PAK3 Zornitza Stark Phenotypes for gene: PAK3 were changed from Mental retardation syndrome, X-linked to Mental retardation syndrome, X-linked 30, MIM#300558
Genomic newborn screening: BabyScreen+ v0.743 PAK3 Zornitza Stark Classified gene: PAK3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.743 PAK3 Zornitza Stark Gene: pak3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.742 P2RY12 Zornitza Stark Marked gene: P2RY12 as ready
Genomic newborn screening: BabyScreen+ v0.742 P2RY12 Zornitza Stark Gene: p2ry12 has been classified as Red List (Low Evidence).
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+ v0.741 P2RY12 Zornitza Stark Classified gene: P2RY12 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.741 P2RY12 Zornitza Stark Gene: p2ry12 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.740 PEX1 Zornitza Stark Marked gene: PEX1 as ready
Genomic newborn screening: BabyScreen+ v0.740 PEX1 Zornitza Stark Gene: pex1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.740 PEX1 Zornitza Stark Phenotypes for gene: PEX1 were changed from Zellweger syndrome to Peroxisome biogenesis disorder 1A (Zellweger), MIM# 214100
Genomic newborn screening: BabyScreen+ v0.739 PEX1 Zornitza Stark Classified gene: PEX1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.739 PEX1 Zornitza Stark Gene: pex1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.738 PDHX Zornitza Stark Marked gene: PDHX as ready
Genomic newborn screening: BabyScreen+ v0.738 PDHX Zornitza Stark Gene: pdhx has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.738 PDHX Zornitza Stark Phenotypes for gene: PDHX were changed from Pyruvate dehydrogenase complex deficiency to Lactic acidaemia due to PDX1 deficiency, MIM# 245349
Genomic newborn screening: BabyScreen+ v0.737 PDHX Zornitza Stark Publications for gene: PDHX were set to
Genomic newborn screening: BabyScreen+ v0.736 PDHX Zornitza Stark reviewed gene: PDHX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lactic acidaemia due to PDX1 deficiency, MIM# 245349; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.736 PDHA1 Zornitza Stark Marked gene: PDHA1 as ready
Genomic newborn screening: BabyScreen+ v0.736 PDHA1 Zornitza Stark Gene: pdha1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.736 PDHA1 Zornitza Stark Phenotypes for gene: PDHA1 were changed from Pyruvate dehydrogenase deficiency to Pyruvate dehydrogenase E1-alpha deficiency, MIM# 312170
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+ v0.734 PDHA1 Zornitza Stark commented on gene: PDHA1: To be reported in females.
Genomic newborn screening: BabyScreen+ v0.734 PDHA1 Zornitza Stark reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency, MIM# 312170; Mode of inheritance: 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+ v0.734 PC Zornitza Stark Marked gene: PC as ready
Genomic newborn screening: BabyScreen+ v0.734 PC Zornitza Stark Gene: pc has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.734 PC Zornitza Stark Phenotypes for gene: PC were changed from Pyruvate carboxylase deficiency to Pyruvate carboxylase deficiency, MIM# 266150
Genomic newborn screening: BabyScreen+ v0.733 PC Zornitza Stark Publications for gene: PC were set to
Genomic newborn screening: BabyScreen+ v0.732 PC Zornitza Stark reviewed gene: PC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pyruvate carboxylase deficiency, MIM# 266150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.732 PAX8 Zornitza Stark Marked gene: PAX8 as ready
Genomic newborn screening: BabyScreen+ v0.732 PAX8 Zornitza Stark Gene: pax8 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.732 PAX8 Zornitza Stark Phenotypes for gene: PAX8 were changed from Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia to Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, MIM# 218700
Genomic newborn screening: BabyScreen+ v0.731 PAX8 Zornitza Stark Publications for gene: PAX8 were set to
Genomic newborn screening: BabyScreen+ v0.730 NPC2 Zornitza Stark Tag for review tag was added to gene: NPC2.
Genomic newborn screening: BabyScreen+ v0.730 SLC16A2 Zornitza Stark Classified gene: SLC16A2 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.730 SLC16A2 Zornitza Stark Gene: slc16a2 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.729 CYP27A1 Zornitza Stark Classified gene: CYP27A1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.729 CYP27A1 Zornitza Stark Gene: cyp27a1 has been classified as Red List (Low Evidence).
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+ v0.728 ADAR Zornitza Stark commented on gene: ADAR: To be discussed further with neurology.
Genomic newborn screening: BabyScreen+ v0.728 UROD John Christodoulou reviewed gene: UROD: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 24175354; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.728 VHL Zornitza Stark Publications for gene: VHL were set to 20301636; 33945366; 34613603
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+ v0.727 VHL Zornitza Stark edited their review of gene: VHL: Changed publications: 28620007
Genomic newborn screening: BabyScreen+ v0.727 VHL Zornitza Stark reviewed gene: VHL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: von Hippel-Lindau syndrome MIM#193300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.727 UROD Zornitza Stark Marked gene: UROD as ready
Genomic newborn screening: BabyScreen+ v0.727 UROD Zornitza Stark Gene: urod has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.727 UROD Zornitza Stark Phenotypes for gene: UROD were changed from Porphyria, hepatoerythropoietic to Porphyria, hepatoerythropoietic MIM#176100
Genomic newborn screening: BabyScreen+ v0.726 UROD Zornitza Stark Publications for gene: UROD were set to
Genomic newborn screening: BabyScreen+ v0.725 UROD Zornitza Stark Tag for review was removed from gene: UROD.
Genomic newborn screening: BabyScreen+ v0.725 UROD Zornitza Stark reviewed gene: UROD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Porphyria, hepatoerythropoietic MIM#176100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.725 SI Zornitza Stark Tag for review was removed from gene: SI.
Genomic newborn screening: BabyScreen+ v0.725 SFTPC Zornitza Stark Classified gene: SFTPC as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.725 SFTPC Zornitza Stark Gene: sftpc has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.724 SFTPC Zornitza Stark Tag for review was removed from gene: SFTPC.
Genomic newborn screening: BabyScreen+ v0.724 SCN3A Zornitza Stark Classified gene: SCN3A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.724 SCN3A Zornitza Stark Gene: scn3a has been classified as Red List (Low Evidence).
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+ v0.723 SCN3A Zornitza Stark reviewed gene: SCN3A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 62, MIM# 617938; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.723 SCN2A Zornitza Stark Classified gene: SCN2A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.723 SCN2A Zornitza Stark Gene: scn2a has been classified as Red List (Low Evidence).
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+ v0.722 SCN2A Zornitza Stark reviewed gene: SCN2A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 11, MIM# 613721; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.722 SCN1A Zornitza Stark Classified gene: SCN1A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.722 SCN1A Zornitza Stark Gene: scn1a has been classified as Red List (Low Evidence).
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 SCN1A Zornitza Stark reviewed gene: SCN1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.721 PCBD1 Zornitza Stark Tag for review was removed from gene: PCBD1.
Genomic newborn screening: BabyScreen+ v0.721 PCBD1 Zornitza Stark changed review comment from: Well established gene-disease association.

Presents in the neonatal period: characterized by mild transient hyperphenylalaninemia often detected by newborn screening. Patients also show increased excretion of 7-biopterin. Affected individuals are asymptomatic and show normal psychomotor development, although transient neurologic deficits in infancy have been reported. Patients may also develop hypomagnesemia and non-autoimmune diabetes mellitus during puberty.

For review; to: Well established gene-disease association.

Presents in the neonatal period: characterized by mild transient hyperphenylalaninemia often detected by newborn screening. Patients also show increased excretion of 7-biopterin. Affected individuals are asymptomatic and show normal psychomotor development, although transient neurologic deficits in infancy have been reported. Patients may also develop hypomagnesemia and non-autoimmune diabetes mellitus during puberty.
Genomic newborn screening: BabyScreen+ v0.721 OTOGL Zornitza Stark Tag for review was removed from gene: OTOGL.
Genomic newborn screening: BabyScreen+ v0.721 OTOGL Zornitza Stark Deleted their comment
Genomic newborn screening: BabyScreen+ v0.721 NPC1 Zornitza Stark Tag for review was removed from gene: NPC1.
Genomic newborn screening: BabyScreen+ v0.721 NPC1 Zornitza Stark changed review comment from: For review: check treatment available locally; to: For review: check treatment available locally. Done.
Genomic newborn screening: BabyScreen+ v0.721 MYO6 Zornitza Stark changed review comment from: For review: should we only screen for bi-allelic or both mono- and bi-allelic disease?; to: For review: should we only screen for bi-allelic or both mono- and bi-allelic disease?

Panel review: screen for bi-allelic disease only.
Genomic newborn screening: BabyScreen+ v0.721 MYO6 Zornitza Stark Phenotypes for gene: MYO6 were changed from Deafness, autosomal dominant 22, MIM# 606346; Deafness, autosomal recessive 37, MIM# 607821 to Deafness, autosomal recessive 37, MIM# 607821
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+ v0.719 PAX6 David Amor reviewed gene: PAX6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Aniridia, OMIM 106210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.719 PAX3 David Amor reviewed gene: PAX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Waardenburg syndrome, type 1, OMIM 193500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.719 PANK2 David Amor reviewed gene: PANK2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration with brain iron accumulation 1 (aka Hallervorden-Spatz disease), OMIM 234200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PALB2 David Amor reviewed gene: PALB2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group N, OMIM 610832 (AR), Breast cancer, susceptibility to (OMIM 114480) (AD); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PAK3 David Amor reviewed gene: PAK3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 300558, Intellectual developmental disorder, X-linked 30; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.719 P2RY12 David Amor reviewed gene: P2RY12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 609821, Bleeding disorder, platelet-type, 8; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PHYH John Christodoulou reviewed gene: PHYH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: retinitis pigmentosa with night blindness, cataracts, polyneuropathy including sensory disturbances, cerebellar ataxia, anosmia, progressive hearing loss; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PHKG2 John Christodoulou reviewed gene: PHKG2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30659246, https://www.ncbi.nlm.nih.gov/books/NBK55061/#gsd9.Summary; Phenotypes: hepatomegaly, hypotonia, growth retardation, hypoglycaemia, fasting ketosis, cirrhosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PHKB John Christodoulou reviewed gene: PHKB: Rating: GREEN; Mode of pathogenicity: None; Publications: https://www.ncbi.nlm.nih.gov/books/NBK55061/#gsd9.Summary; Phenotypes: marked hepatomegaly, hypoglycaemia, short stature, fasting ketosis, hypotonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PHKA2 John Christodoulou reviewed gene: PHKA2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30659246; Phenotypes: hepatomegaly, short stature, liver dysfunction, hypoglycaemia, hyperuricaemia, hyperlipidemia, fasting ketosis, mild motor delay; Mode of inheritance: 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+ v0.719 PHGDH John Christodoulou reviewed gene: PHGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: growth retardation, congenital microcephaly, hypogonadism, hypertonia, severe ID, epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PGM1 John Christodoulou reviewed gene: PGM1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32681750; Phenotypes: cleft lip, bifid uvula, hepatopathy, intermittent hypoglycemia, short stature, exercise intolerance, increased serum creatine kinase, rhabdomyolysis, dilated cardiomyopathy, hypogonadotropic hypogonadism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PFKM John Christodoulou reviewed gene: PFKM: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 7550225; Phenotypes: rhabdomyolysis, myopathy, exercise intolerance, gout, haemolysis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PEX7 John Christodoulou reviewed gene: PEX7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PEX6 John Christodoulou reviewed gene: PEX6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PEX5 John Christodoulou reviewed gene: PEX5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PEX3 John Christodoulou reviewed gene: PEX3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PEX26 John Christodoulou reviewed gene: PEX26: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PEX2 John Christodoulou reviewed gene: PEX2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PEX13 John Christodoulou reviewed gene: PEX13: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PEX12 John Christodoulou reviewed gene: PEX12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PEX10 John Christodoulou reviewed gene: PEX10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PEX1 John Christodoulou reviewed gene: PEX1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PDHX John Christodoulou reviewed gene: PDHX: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20002125, PMID: 33092611; Phenotypes: ID, hypotonia, lactic acidosis, seizures, dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PDHA1 John Christodoulou reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: lactic acidosis, porencephaly, ID, seizures, dystonia; Mode of inheritance: 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+ v0.719 PC John Christodoulou reviewed gene: PC: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301764; Phenotypes: lactic acidosis, ID; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PAX8 John Christodoulou reviewed gene: PAX8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33272083; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.719 OXCT1 John Christodoulou reviewed gene: OXCT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30799594, PMID: 20652411; Phenotypes: ketoacidosis, hypoglycaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 OTC John Christodoulou reviewed gene: OTC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: hyperammonaemia, encephalopathy, liver failure; Mode of inheritance: 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+ v0.719 NPC2 John Christodoulou reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29625568, PMID: 30732631; Phenotypes: cholestatic jaundice in infancy, gaze palsy, ID, dystonia, progressive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 NPC1 John Christodoulou reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29625568, PMID: 30732631; Phenotypes: hepatosplenomegaly, cholestatic jaundice, gaze palsy, ID, dystonia, dementia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 MPI John Christodoulou reviewed gene: MPI: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32266963, PMID: 19101627; Phenotypes: hyperinsulinism, hepatomegaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 MLYCD John Christodoulou reviewed gene: MLYCD: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28781843, PMID: 20549361; Phenotypes: hypoglycaemia, metabolic acidosis, cardiomyopathy, ID, seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 MAN2B1 John Christodoulou reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31222755, PMID: 31241255; Phenotypes: ID, coarse facial features, deafness, dysostosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 SLC17A5 Seb Lunke Marked gene: SLC17A5 as ready
Genomic newborn screening: BabyScreen+ v0.719 SLC17A5 Seb Lunke Gene: slc17a5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.719 SLC17A5 Seb Lunke Phenotypes for gene: SLC17A5 were changed from Sialic acid storage disorder, infantile to Sialic acid storage disorder, infantile, MIM# 269920
Genomic newborn screening: BabyScreen+ v0.718 SLC17A5 Seb Lunke Classified gene: SLC17A5 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.718 SLC17A5 Seb Lunke Gene: slc17a5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.717 SLC17A5 Seb Lunke reviewed gene: SLC17A5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Sialic acid storage disorder, infantile, MIM# 269920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.717 SLC16A2 Seb Lunke Marked gene: SLC16A2 as ready
Genomic newborn screening: BabyScreen+ v0.717 SLC16A2 Seb Lunke Gene: slc16a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.717 SLC16A2 Seb Lunke Phenotypes for gene: SLC16A2 were changed from Allan-Herndon-Dudley syndrome to Allan-Herndon-Dudley syndrome, MIM# 300523
Genomic newborn screening: BabyScreen+ v0.716 SLC16A2 Seb Lunke Classified gene: SLC16A2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.716 SLC16A2 Seb Lunke Added comment: Comment on list classification: Not eligible now but have to check back on trial later
Genomic newborn screening: BabyScreen+ v0.716 SLC16A2 Seb Lunke Gene: slc16a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.715 SLC16A2 Seb Lunke Tag clinical trial tag was added to gene: SLC16A2.
Genomic newborn screening: BabyScreen+ v0.715 SLC16A2 Seb Lunke reviewed gene: SLC16A2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Allan-Herndon-Dudley syndrome, MIM# 300523; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.715 SLC12A6 Seb Lunke Marked gene: SLC12A6 as ready
Genomic newborn screening: BabyScreen+ v0.715 SLC12A6 Seb Lunke Gene: slc12a6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.715 SLC12A6 Seb Lunke Phenotypes for gene: SLC12A6 were changed from Agenesis of the corpus callosum with peripheral neuropathy to Agenesis of the corpus callosum with peripheral neuropathy, MIM#21800
Genomic newborn screening: BabyScreen+ v0.714 SLC12A6 Seb Lunke Classified gene: SLC12A6 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.714 SLC12A6 Seb Lunke Gene: slc12a6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.713 SLC12A6 Seb Lunke reviewed gene: SLC12A6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Agenesis of the corpus callosum with peripheral neuropathy, MIM#21800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.713 SLC12A3 Seb Lunke Marked gene: SLC12A3 as ready
Genomic newborn screening: BabyScreen+ v0.713 SLC12A3 Seb Lunke Gene: slc12a3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.713 SLC12A3 Seb Lunke Phenotypes for gene: SLC12A3 were changed from Gitelman syndrome to Gitelman syndrome, MIM# 263800
Genomic newborn screening: BabyScreen+ v0.712 SLC12A3 Seb Lunke Classified gene: SLC12A3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.712 SLC12A3 Seb Lunke Gene: slc12a3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.711 SLC12A3 Seb Lunke Tag for review tag was added to gene: SLC12A3.
Genomic newborn screening: BabyScreen+ v0.711 SLC12A3 Seb Lunke reviewed gene: SLC12A3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Gitelman syndrome, MIM# 263800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.711 SLC12A1 Seb Lunke Marked gene: SLC12A1 as ready
Genomic newborn screening: BabyScreen+ v0.711 SLC12A1 Seb Lunke Gene: slc12a1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.711 SLC12A1 Seb Lunke Phenotypes for gene: SLC12A1 were changed from Bartter syndrome to Bartter syndrome, type 1, MIM# 601678
Genomic newborn screening: BabyScreen+ v0.710 SLC12A1 Seb Lunke reviewed gene: SLC12A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bartter syndrome, type 1, MIM# 601678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.710 SKI Seb Lunke Marked gene: SKI as ready
Genomic newborn screening: BabyScreen+ v0.710 SKI Seb Lunke Gene: ski has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.710 SKI Seb Lunke Phenotypes for gene: SKI were changed from Shprintzen-Goldberg syndrome to Shprintzen-Goldberg syndrome, MIM#182212
Genomic newborn screening: BabyScreen+ v0.709 SKI Seb Lunke Classified gene: SKI as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.709 SKI Seb Lunke Gene: ski has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.708 SKI Seb Lunke reviewed gene: SKI: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Shprintzen-Goldberg syndrome, MIM#182212; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.708 SIX3 Seb Lunke Marked gene: SIX3 as ready
Genomic newborn screening: BabyScreen+ v0.708 SIX3 Seb Lunke Gene: six3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.708 SIX3 Seb Lunke Phenotypes for gene: SIX3 were changed from Holoprosencephaly-2 to Holoprosencephaly 2, MIM# 157170
Genomic newborn screening: BabyScreen+ v0.707 SIX3 Seb Lunke Classified gene: SIX3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.707 SIX3 Seb Lunke Gene: six3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.706 SIX3 Seb Lunke reviewed gene: SIX3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Holoprosencephaly 2, MIM# 157170; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.706 SIX1 Seb Lunke Marked gene: SIX1 as ready
Genomic newborn screening: BabyScreen+ v0.706 SIX1 Seb Lunke Gene: six1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.706 SIX1 Seb Lunke Phenotypes for gene: SIX1 were changed from Branchiootorenal syndrome to Branchiootic syndrome 3, MIM# 608389
Genomic newborn screening: BabyScreen+ v0.705 SIX1 Seb Lunke Classified gene: SIX1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.705 SIX1 Seb Lunke Gene: six1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.704 SIX1 Seb Lunke reviewed gene: SIX1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Branchiootic syndrome 3, MIM# 608389; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.704 SIL1 Seb Lunke Marked gene: SIL1 as ready
Genomic newborn screening: BabyScreen+ v0.704 SIL1 Seb Lunke Gene: sil1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.704 SIL1 Seb Lunke Phenotypes for gene: SIL1 were changed from Marinesco-Sjogren syndrome to Marinesco-Sjogren syndrome, MIM#248800
Genomic newborn screening: BabyScreen+ v0.703 SIL1 Seb Lunke Classified gene: SIL1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.703 SIL1 Seb Lunke Gene: sil1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.702 SIL1 Seb Lunke reviewed gene: SIL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Marinesco-Sjogren syndrome, MIM#248800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.702 SI Seb Lunke Marked gene: SI as ready
Genomic newborn screening: BabyScreen+ v0.702 SI Seb Lunke Gene: si has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.702 SI Seb Lunke Tag for review tag was added to gene: SI.
Genomic newborn screening: BabyScreen+ v0.702 SI Seb Lunke reviewed gene: SI: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sucrase-isomaltase deficiency, congenital, MIM# 222900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.702 SHH Seb Lunke Marked gene: SHH as ready
Genomic newborn screening: BabyScreen+ v0.702 SHH Seb Lunke Gene: shh has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.702 SHH Seb Lunke Phenotypes for gene: SHH were changed from Holoprosencephaly-3 to Holoprosencephaly 3, MIM#142945
Genomic newborn screening: BabyScreen+ v0.701 SHH Seb Lunke Classified gene: SHH as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.701 SHH Seb Lunke Gene: shh has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.700 SHH Seb Lunke reviewed gene: SHH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Holoprosencephaly 3, MIM#142945; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.700 SHANK3 Seb Lunke Marked gene: SHANK3 as ready
Genomic newborn screening: BabyScreen+ v0.700 SHANK3 Seb Lunke Gene: shank3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.700 SHANK3 Seb Lunke Classified gene: SHANK3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.700 SHANK3 Seb Lunke Gene: shank3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.699 SHANK3 Seb Lunke reviewed gene: SHANK3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Phelan-McDermid syndrome, MIM# 606232; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.699 SH3TC2 Seb Lunke Marked gene: SH3TC2 as ready
Genomic newborn screening: BabyScreen+ v0.699 SH3TC2 Seb Lunke Gene: sh3tc2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.699 SH3TC2 Seb Lunke Phenotypes for gene: SH3TC2 were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, type 4C MIM#601596
Genomic newborn screening: BabyScreen+ v0.698 SH3TC2 Seb Lunke Classified gene: SH3TC2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.698 SH3TC2 Seb Lunke Gene: sh3tc2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.697 SH3TC2 Seb Lunke reviewed gene: SH3TC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4C MIM#601596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.697 SH2D1A Seb Lunke Marked gene: SH2D1A as ready
Genomic newborn screening: BabyScreen+ v0.697 SH2D1A Seb Lunke Gene: sh2d1a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.697 SH2D1A Seb Lunke Phenotypes for gene: SH2D1A were changed from Lymphoproliferative syndrome, MIM#308240 to Lymphoproliferative syndrome, X-linked, 1, MIM# 308240
Genomic newborn screening: BabyScreen+ v0.696 SH2D1A Seb Lunke Publications for gene: SH2D1A were set to
Genomic newborn screening: BabyScreen+ v0.695 SH2D1A Seb Lunke reviewed gene: SH2D1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301580; Phenotypes: Lymphoproliferative syndrome, X-linked, 1, MIM# 308240; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.695 SGSH Seb Lunke Marked gene: SGSH as ready
Genomic newborn screening: BabyScreen+ v0.695 SGSH Seb Lunke Gene: sgsh has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.695 SGSH Seb Lunke Phenotypes for gene: SGSH were changed from Mucopolysaccharidisis type IIIA (Sanfilippo A) to Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900
Genomic newborn screening: BabyScreen+ v0.694 SGSH Seb Lunke Classified gene: SGSH as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.694 SGSH Seb Lunke Gene: sgsh has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.693 SGSH Seb Lunke reviewed gene: SGSH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.693 SGCB Seb Lunke Marked gene: SGCB as ready
Genomic newborn screening: BabyScreen+ v0.693 SGCB Seb Lunke Gene: sgcb has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.693 SGCG Seb Lunke Marked gene: SGCG as ready
Genomic newborn screening: BabyScreen+ v0.693 SGCG Seb Lunke Gene: sgcg has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.693 SGCB Seb Lunke Phenotypes for gene: SGCB were changed from Muscular dystrophy, limb-girdle, type 2E to Muscular dystrophy, limb-girdle, autosomal recessive 4 MIM#604286
Genomic newborn screening: BabyScreen+ v0.692 SGCD Seb Lunke Marked gene: SGCD as ready
Genomic newborn screening: BabyScreen+ v0.692 SGCD Seb Lunke Gene: sgcd has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.692 SGCG Seb Lunke Phenotypes for gene: SGCG were changed from Muscular dystrophy, limb-girdle, type 2C to Muscular dystrophy, limb-girdle, autosomal recessive 5 MIM#253700
Genomic newborn screening: BabyScreen+ v0.691 SGCB Seb Lunke Classified gene: SGCB as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.691 SGCB Seb Lunke Gene: sgcb has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.690 SGCD Seb Lunke Classified gene: SGCD as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.690 SGCD Seb Lunke Gene: sgcd has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.689 SGCG Seb Lunke Classified gene: SGCG as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.689 SGCG Seb Lunke Gene: sgcg has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.688 SGCG Seb Lunke reviewed gene: SGCG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 5 MIM#253700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.688 SGCD Seb Lunke reviewed gene: SGCD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.688 SGCB Seb Lunke reviewed gene: SGCB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 4 MIM#604286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.688 SGCA Seb Lunke Marked gene: SGCA as ready
Genomic newborn screening: BabyScreen+ v0.688 SGCA Seb Lunke Gene: sgca has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.688 SGCA Seb Lunke Phenotypes for gene: SGCA were changed from Muscular dystrophy, limb-girdle, type 2D to Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099
Genomic newborn screening: BabyScreen+ v0.687 SGCA Seb Lunke Classified gene: SGCA as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.687 SGCA Seb Lunke Gene: sgca has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.686 SGCA Seb Lunke reviewed gene: SGCA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.686 COL13A1 Zornitza Stark Marked gene: COL13A1 as ready
Genomic newborn screening: BabyScreen+ v0.686 COL13A1 Zornitza Stark Gene: col13a1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.686 COL13A1 Zornitza Stark Tag treatable tag was added to gene: COL13A1.
Genomic newborn screening: BabyScreen+ v0.686 COL13A1 Zornitza Stark reviewed gene: COL13A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 19 (OMIM #616720); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.686 COL11A2 Zornitza Stark Classified gene: COL11A2 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.686 COL11A2 Zornitza Stark Gene: col11a2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.685 COL11A2 Zornitza Stark edited their review of gene: COL11A2: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.685 COL11A2 Zornitza Stark Marked gene: COL11A2 as ready
Genomic newborn screening: BabyScreen+ v0.685 COL11A2 Zornitza Stark Gene: col11a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.685 COL11A2 Zornitza Stark Phenotypes for gene: COL11A2 were changed from Otospondylomegaepiphyseal dysplasia to Deafness, autosomal recessive 53, MIM# 609706
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+ v0.683 COL11A2 Zornitza Stark Classified gene: COL11A2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.683 COL11A2 Zornitza Stark Gene: col11a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.682 COL11A2 Zornitza Stark reviewed gene: COL11A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 53, MIM# 609706; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.682 COL11A1 Zornitza Stark Marked gene: COL11A1 as ready
Genomic newborn screening: BabyScreen+ v0.682 COL11A1 Zornitza Stark Gene: col11a1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.682 COL11A1 Zornitza Stark Phenotypes for gene: COL11A1 were changed from Stickler syndrome to Stickler syndrome, type II, MIM# 604841
Genomic newborn screening: BabyScreen+ v0.681 COL11A1 Zornitza Stark Tag for review tag was added to gene: COL11A1.
Genomic newborn screening: BabyScreen+ v0.681 COL11A1 Zornitza Stark reviewed gene: COL11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stickler syndrome, type II, MIM# 604841; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.681 COG5 Zornitza Stark Marked gene: COG5 as ready
Genomic newborn screening: BabyScreen+ v0.681 COG5 Zornitza Stark Gene: cog5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.681 COG5 Zornitza Stark Phenotypes for gene: COG5 were changed from Congenital disorder of glycosylation, type IIi to Congenital disorder of glycosylation, type IIi, MIM# 613612
Genomic newborn screening: BabyScreen+ v0.680 COG5 Zornitza Stark Classified gene: COG5 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.680 COG5 Zornitza Stark Gene: cog5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.679 COG5 Zornitza Stark reviewed gene: COG5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IIi, MIM# 613612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.679 OXCT1 Zornitza Stark Marked gene: OXCT1 as ready
Genomic newborn screening: BabyScreen+ v0.679 OXCT1 Zornitza Stark Gene: oxct1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.679 OXCT1 Zornitza Stark Tag treatable tag was added to gene: OXCT1.
Genomic newborn screening: BabyScreen+ v0.679 OTOGL Zornitza Stark Marked gene: OTOGL as ready
Genomic newborn screening: BabyScreen+ v0.679 OTOGL Zornitza Stark Gene: otogl has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.679 OTOGL Zornitza Stark Phenotypes for gene: OTOGL were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 84B, MIM# 614944
Genomic newborn screening: BabyScreen+ v0.678 OTOGL Zornitza Stark Tag for review tag was added to gene: OTOGL.
Genomic newborn screening: BabyScreen+ v0.678 OTOGL Zornitza Stark reviewed gene: OTOGL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 84B, MIM# 614944; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.678 OTOF Zornitza Stark Marked gene: OTOF as ready
Genomic newborn screening: BabyScreen+ v0.678 OTOF Zornitza Stark Gene: otof has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.678 OTOF Zornitza Stark Phenotypes for gene: OTOF were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 9, MIM#601071
Genomic newborn screening: BabyScreen+ v0.677 OTOA Zornitza Stark Marked gene: OTOA as ready
Genomic newborn screening: BabyScreen+ v0.677 OTOA Zornitza Stark Gene: otoa has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.677 OTOA Zornitza Stark Phenotypes for gene: OTOA were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 22, MIM#607039
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 Marked gene: OTC as ready
Genomic newborn screening: BabyScreen+ v0.676 OTC Zornitza Stark Gene: otc has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.676 OTC Zornitza Stark Tag treatable tag was added to gene: OTC.
Genomic newborn screening: BabyScreen+ v0.676 OSTM1 Zornitza Stark Marked gene: OSTM1 as ready
Genomic newborn screening: BabyScreen+ v0.676 OSTM1 Zornitza Stark Gene: ostm1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.676 OSTM1 Zornitza Stark Phenotypes for gene: OSTM1 were changed from Osteopetrosis to Osteopetrosis, autosomal recessive 5, MIM#259720
Genomic newborn screening: BabyScreen+ v0.675 OSTM1 Zornitza Stark Publications for gene: OSTM1 were set to
Genomic newborn screening: BabyScreen+ v0.674 OSTM1 Zornitza Stark Classified gene: OSTM1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.674 OSTM1 Zornitza Stark Gene: ostm1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.673 DPAGT1 Zornitza Stark changed review comment from: Bi-allelic variants cause either multi-system CDG or congenital myasthenia graves.

Difficult to predict phenotype from genotype but MG may be responsive to treatment.

Phenotype may already be apparent in newborn period so clinical correlation possible.; to: Bi-allelic variants cause either multi-system CDG or congenital myasthenia gravis.

Difficult to predict phenotype from genotype but MG may be responsive to treatment.

Phenotype may already be apparent in newborn period so clinical correlation possible.
Genomic newborn screening: BabyScreen+ v0.673 UMOD Zornitza Stark Marked gene: UMOD as ready
Genomic newborn screening: BabyScreen+ v0.673 UMOD Zornitza Stark Gene: umod has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.673 UMOD Zornitza Stark Phenotypes for gene: UMOD were changed from Nephropathy to Tubulointerstitial kidney disease MIM#162000
Genomic newborn screening: BabyScreen+ v0.672 UMOD Zornitza Stark Publications for gene: UMOD were set to
Genomic newborn screening: BabyScreen+ v0.671 UMOD Zornitza Stark Classified gene: UMOD as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.671 UMOD Zornitza Stark Gene: umod has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.670 OXCT1 David Amor reviewed gene: OXCT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30799594; Phenotypes: 245050, Succinyl CoA:3-oxoacid CoA transferase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.670 OTOGL David Amor reviewed gene: OTOGL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 614944, Deafness, autosomal recessive 84B; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.670 OTOF David Amor reviewed gene: OTOF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 601071, Auditory neuropathy, autosomal recessive, 1, AND Deafness, autosomal recessive 9; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.670 OTOA David Amor changed review comment from: Gene-disease association: strong. Note that large deletions are relatively common - will we detect by WGS?

Severity: moderate to severe prelingual sensorineural recessive deafness

Age of onset: congenital

Non-molecular confirmatory testing: audiology

Treatment: symptomatic only therefore exclude; to: Gene-disease association: strong. Note that large deletions are relatively common - will we detect by WGS?

Severity: moderate to severe prelingual sensorineural recessive deafness

Age of onset: congenital

Non-molecular confirmatory testing: audiology

Treatment: HA, CI.
Genomic newborn screening: BabyScreen+ v0.670 OTOA David Amor reviewed gene: OTOA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 607039, Deafness, autosomal recessive 22; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.670 OTC David Amor reviewed gene: OTC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 311250 Ornithine transcarbamylase deficiency; Mode of inheritance: 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+ v0.670 OSTM1 David Amor reviewed gene: OSTM1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 34011644; Phenotypes: 259720 Osteopetrosis, autosomal recessive 5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.670 UNC13D Zornitza Stark Marked gene: UNC13D as ready
Genomic newborn screening: BabyScreen+ v0.670 UNC13D Zornitza Stark Gene: unc13d has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.670 UNC13D Zornitza Stark Publications for gene: UNC13D were set to
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 SFTPC Zornitza Stark reviewed gene: SFTPC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 2, MIM# 610913; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.669 CDH23 Zornitza Stark Tag for review was removed from gene: CDH23.
Genomic newborn screening: BabyScreen+ v0.669 MEN1 Zornitza Stark Classified gene: MEN1 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.669 MEN1 Zornitza Stark Gene: men1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.668 MEN1 Zornitza Stark Classified gene: MEN1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.668 MEN1 Zornitza Stark Gene: men1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.667 MEN1 Zornitza Stark Tag for review was removed from gene: MEN1.
Genomic newborn screening: BabyScreen+ v0.667 MEN1 Zornitza Stark changed review comment from: For review re age of onset; to: For review re age of onset: surveillance starts age 5, disease onset generally later.
Genomic newborn screening: BabyScreen+ v0.667 MEN1 Zornitza Stark edited their review of gene: MEN1: Changed rating: RED
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+ v0.667 MEFV Zornitza Stark changed review comment from: Generally bi-allelic disease. There are a small number of variants linked to mono-allelic disease. Are they worth including specifically?

For review.; to: Generally bi-allelic disease. There are a small number of variants linked to mono-allelic disease. Are they worth including specifically?

Reviewed: only include bi-allelic disease.
Genomic newborn screening: BabyScreen+ v0.667 MAGI2 Zornitza Stark Marked gene: MAGI2 as ready
Genomic newborn screening: BabyScreen+ v0.667 MAGI2 Zornitza Stark Gene: magi2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.667 MAGI2 Zornitza Stark Phenotypes for gene: MAGI2 were changed from Infantile spasms to Nephrotic syndrome, type 15, MIM# 617609
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+ v0.665 MAGI2 Zornitza Stark Classified gene: MAGI2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.665 MAGI2 Zornitza Stark Gene: magi2 has been classified as Red List (Low Evidence).
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 LRP5 Zornitza Stark changed review comment from: Gene is associated with multiple phenotypes.

Bisphosphanate is used to treat osteoporosis. Onset of bone fragility is in childhood.

Non-genetic confirmatory testing: skeletal survey, but uncertain at what stage abnormalities would appear.

For review.; to: Gene is associated with multiple phenotypes.

Bisphosphanate is used to treat osteoporosis. Onset of bone fragility is in childhood.

Non-genetic confirmatory testing: skeletal survey, but uncertain at what stage abnormalities would appear.

For review: only include bi-allelic disease.
Genomic newborn screening: BabyScreen+ v0.664 FUCA1 Zornitza Stark Tag for review was removed from gene: FUCA1.
Genomic newborn screening: BabyScreen+ v0.664 FUCA1 Zornitza Stark changed review comment from: Non-genetic confirmatory testing: fucosidase activity in serum or plasma

For review regarding utility of BMT.; to: Non-genetic confirmatory testing: fucosidase activity in serum or plasma

For review regarding utility of BMT: include, uncertain if pre-symptomatic BMT may have better outcomes than currently reported.
Genomic newborn screening: BabyScreen+ v0.664 ETFB Zornitza Stark Tag for review was removed from gene: ETFB.
Genomic newborn screening: BabyScreen+ v0.664 ETFB Zornitza Stark changed review comment from: Well established gene-disease association.

Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids.

The heterogeneous clinical features of MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in those with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress.

Treatment: riboflavin, carnitine, glycine, Coenzyme Q10 supplementation, fat restriction, avoidance of fasting, and a diet rich in carbohydrates

Non-genetic confirmatory tests: plasma acylcarnitine profile, urine organic acid analysis; to: Well established gene-disease association.

Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids.

The heterogeneous clinical features of MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in those with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress.

Treatment: riboflavin, carnitine, glycine, Coenzyme Q10 supplementation, fat restriction, avoidance of fasting, and a diet rich in carbohydrates

Non-genetic confirmatory tests: plasma acylcarnitine profile, urine organic acid analysis

Predominantly neonatal onset.
Genomic newborn screening: BabyScreen+ v0.664 LRP4 Zornitza Stark Classified gene: LRP4 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.664 LRP4 Zornitza Stark Gene: lrp4 has been classified as Red List (Low Evidence).
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 LDLR Zornitza Stark changed review comment from: ClinGen: 'strong actionability' in paediatric patients.

For review as clinical manifestations are typically in adulthood. Statin therapy is recommended to be initiated as early as 8-12 years of age. However, there is also a severe, bi-allelic form with onset in early childhood.

Elevated LDL-C levels can be detected from infancy and strongly predispose patients with FH to progressive atherosclerosis throughout childhood and premature CVD in adulthood. Although complications of atherosclerosis occur most commonly in individuals aged >50, the pathophysiological processes begin in childhood and are affected by additional risk factors: hypertension, diabetes, smoking, obesity, poor diet, and physical inactivity. By 12 years of age, children with FH have significant thickening of the carotid intima-media, and by 18 years have coronary stenosis. In natural history studies, 50% of males and 25% of females with FH develop clinical CVD by age 50 years, but up to 10% can have severe premature CVD by 40 years of age. On average, individuals with HeFH experience their first coronary event at age 42, 20 years younger than the general population. Statins have changed the prognosis of FH such that the rates of cardiovascular (CV) events are equal to the general population after 10 years of treatment.; to: ClinGen: 'strong actionability' in paediatric patients.

For review as clinical manifestations are typically in adulthood. Statin therapy is recommended to be initiated as early as 8-12 years of age. However, there is also a severe, bi-allelic form with onset in early childhood.

Elevated LDL-C levels can be detected from infancy and strongly predispose patients with FH to progressive atherosclerosis throughout childhood and premature CVD in adulthood. Although complications of atherosclerosis occur most commonly in individuals aged >50, the pathophysiological processes begin in childhood and are affected by additional risk factors: hypertension, diabetes, smoking, obesity, poor diet, and physical inactivity. By 12 years of age, children with FH have significant thickening of the carotid intima-media, and by 18 years have coronary stenosis. In natural history studies, 50% of males and 25% of females with FH develop clinical CVD by age 50 years, but up to 10% can have severe premature CVD by 40 years of age. On average, individuals with HeFH experience their first coronary event at age 42, 20 years younger than the general population. Statins have changed the prognosis of FH such that the rates of cardiovascular (CV) events are equal to the general population after 10 years of treatment.

Include bi-allelic disease in gNBS. Continue considering if and when mono-allelic disease should be included.
Genomic newborn screening: BabyScreen+ v0.662 LDLR Zornitza Stark edited their review of gene: LDLR: Changed mode of inheritance: 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+ v0.662 GATA4 Zornitza Stark Marked gene: GATA4 as ready
Genomic newborn screening: BabyScreen+ v0.662 GATA4 Zornitza Stark Gene: gata4 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.662 GATA4 Zornitza Stark Phenotypes for gene: GATA4 were changed from Congenital heart defects to Atrial septal defect 2 MIM#607941; Atrioventricular septal defect 4 MIM#614430; Ventricular septal defect 1 MIM#614429
Genomic newborn screening: BabyScreen+ v0.661 GATA4 Zornitza Stark Tag for review was removed from gene: GATA4.
Genomic newborn screening: BabyScreen+ v0.661 GATA4 Zornitza Stark reviewed gene: GATA4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.661 FLAD1 Zornitza Stark Tag for review was removed from gene: FLAD1.
Genomic newborn screening: BabyScreen+ v0.661 FLAD1 Zornitza Stark changed review comment from: Well established gene-disease association, more than 10 families reported.

The phenotype is extremely heterogeneous: some patients have a severe disorder with onset in infancy and cardiac and respiratory insufficiency resulting in early death, whereas others have a milder course with onset of muscle weakness in adulthood. Some patients show significant improvement with riboflavin treatment.

For discussion. Included as a treatable disorder in rx-genes.

Confirmatory non-genetic testing: Plasma acylcarnitine profile, Urine organic acid analysis,; to: Well established gene-disease association, more than 10 families reported.

The phenotype is extremely heterogeneous: some patients have a severe disorder with onset in infancy and cardiac and respiratory insufficiency resulting in early death, whereas others have a milder course with onset of muscle weakness in adulthood. Some patients show significant improvement with riboflavin treatment.

Included as a treatable disorder in rx-genes.

Confirmatory non-genetic testing: Plasma acylcarnitine profile, Urine organic acid analysis,
Genomic newborn screening: BabyScreen+ v0.661 DPAGT1 Zornitza Stark Tag for review was removed from gene: DPAGT1.
Genomic newborn screening: BabyScreen+ v0.661 DPAGT1 Zornitza Stark changed review comment from: Bi-allelic variants cause either multi-system CDG or congenital myasthenia graves.

Difficult to predict phenotype from genotype but MG may be responsive to treatment.

For review.; to: Bi-allelic variants cause either multi-system CDG or congenital myasthenia graves.

Difficult to predict phenotype from genotype but MG may be responsive to treatment.

Phenotype may already be apparent in newborn period so clinical correlation possible.
Genomic newborn screening: BabyScreen+ v0.661 COQ8B Zornitza Stark Classified gene: COQ8B as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.661 COQ8B Zornitza Stark Gene: coq8b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.660 COQ8B Zornitza Stark changed review comment from: Well established gene-disease association.

Disease onset typically between ages 10 and 20 years, although several had earlier onset, including 1 patient with onset in the first year of life.

Treatment: CoQ10 supplementation, improves nephrotic features

For review: re age of onset; to: Well established gene-disease association.

Disease onset typically between ages 10 and 20 years, although several had earlier onset, including 1 patient with onset in the first year of life.

Treatment: CoQ10 supplementation, improves nephrotic features

For review: re age of onset -- predominantly later onset, so not included
Genomic newborn screening: BabyScreen+ v0.660 COQ8B Zornitza Stark edited their review of gene: COQ8B: Changed rating: RED
Genomic newborn screening: BabyScreen+ v0.660 UMOD Lilian Rudd reviewed gene: UMOD: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301530; Phenotypes: Tubulointerstitial kidney disease MIM#162000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.660 UNC13D Lilian Rudd reviewed gene: UNC13D: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301617; Phenotypes: Hemophagocytic lymphohistiocytosis MIM#608898; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.660 UROD Lilian Rudd reviewed gene: UROD: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 24175354, PMID: 17360334; Phenotypes: Porphyria, hepatoerythropoietic MIM#176100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.660 COCH Zornitza Stark Marked gene: COCH as ready
Genomic newborn screening: BabyScreen+ v0.660 COCH Zornitza Stark Gene: coch has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.660 COCH Zornitza Stark Phenotypes for gene: COCH were changed from Deafness, autosomal dominant 9, MIM# 601369; Deafness, autosomal recessive 110, MIM# 618094 to Deafness, autosomal recessive 110, MIM# 618094
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+ v0.658 COCH Zornitza Stark reviewed gene: COCH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 110, MIM# 618094; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.658 CNGB3 Zornitza Stark Marked gene: CNGB3 as ready
Genomic newborn screening: BabyScreen+ v0.658 CNGB3 Zornitza Stark Gene: cngb3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.658 CNGB3 Zornitza Stark Phenotypes for gene: CNGB3 were changed from Achromatopsia-3 to Achromatopsia 3, MIM# 262300
Genomic newborn screening: BabyScreen+ v0.657 CNGB3 Zornitza Stark Classified gene: CNGB3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.657 CNGB3 Zornitza Stark Gene: cngb3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.656 CNGB3 Zornitza Stark reviewed gene: CNGB3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Achromatopsia 3, MIM# 262300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.656 CLRN1 Zornitza Stark Marked gene: CLRN1 as ready
Genomic newborn screening: BabyScreen+ v0.656 CLRN1 Zornitza Stark Gene: clrn1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.656 CLRN1 Zornitza Stark Phenotypes for gene: CLRN1 were changed from Usher syndrome, type 3A to Usher syndrome, type 3A, MIM# 276902
Genomic newborn screening: BabyScreen+ v0.655 CLRN1 Zornitza Stark Classified gene: CLRN1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.655 CLRN1 Zornitza Stark Gene: clrn1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.654 CLRN1 Zornitza Stark reviewed gene: CLRN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Usher syndrome, type 3A, MIM# 276902; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.654 CLPP Zornitza Stark Marked gene: CLPP as ready
Genomic newborn screening: BabyScreen+ v0.654 CLPP Zornitza Stark Gene: clpp has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.654 CLPP Zornitza Stark reviewed gene: CLPP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Perrault syndrome 3, MIM# 614129; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.654 CLDN19 Zornitza Stark Marked gene: CLDN19 as ready
Genomic newborn screening: BabyScreen+ v0.654 CLDN19 Zornitza Stark Gene: cldn19 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.654 CLDN19 Zornitza Stark Phenotypes for gene: CLDN19 were changed from Hypomagnesemia 5, renal, with ocular involvement to Deafness, autosomal recessive 116 MIM#619093
Genomic newborn screening: BabyScreen+ v0.653 CLDN19 Zornitza Stark Classified gene: CLDN19 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.653 CLDN19 Zornitza Stark Gene: cldn19 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.652 CLDN19 Zornitza Stark reviewed gene: CLDN19: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 116 MIM#619093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.652 CLDN14 Zornitza Stark Marked gene: CLDN14 as ready
Genomic newborn screening: BabyScreen+ v0.652 CLDN14 Zornitza Stark Gene: cldn14 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.652 CLDN14 Zornitza Stark Phenotypes for gene: CLDN14 were changed from Hearing loss, non-syndromic, autosomal recessive to Deafness, autosomal recessive 29, MIM# 614035
Genomic newborn screening: BabyScreen+ v0.651 CLDN14 Zornitza Stark reviewed gene: CLDN14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 29, MIM# 614035; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.651 SFTPC Seb Lunke Marked gene: SFTPC as ready
Genomic newborn screening: BabyScreen+ v0.651 SFTPC Seb Lunke Gene: sftpc has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.651 SFTPC Seb Lunke Phenotypes for gene: SFTPC were changed from Interstitial lung disease; Surfactant metabolism dysfunction, pulmonary, 2 MIM# 178620 to Surfactant metabolism dysfunction, pulmonary, 2, MIM# 610913
Genomic newborn screening: BabyScreen+ v0.650 SFTPC Seb Lunke reviewed gene: SFTPC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 2, MIM# 610913; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.650 CLCN7 Zornitza Stark Marked gene: CLCN7 as ready
Genomic newborn screening: BabyScreen+ v0.650 CLCN7 Zornitza Stark Gene: clcn7 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.650 CLCN7 Zornitza Stark Tag treatable tag was added to gene: CLCN7.
Genomic newborn screening: BabyScreen+ v0.650 CLCN7 Zornitza Stark reviewed gene: CLCN7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 4, MIM# 611490; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.650 CEP78 Zornitza Stark Marked gene: CEP78 as ready
Genomic newborn screening: BabyScreen+ v0.650 CEP78 Zornitza Stark Gene: cep78 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.650 CEP78 Zornitza Stark Phenotypes for gene: CEP78 were changed from Cone-rod dystrophy and hearing loss to Cone-rod dystrophy and hearing loss MIM#617236
Genomic newborn screening: BabyScreen+ v0.649 CEP78 Zornitza Stark Classified gene: CEP78 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.649 CEP78 Zornitza Stark Gene: cep78 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.648 CEP78 Zornitza Stark changed review comment from: Gene-disease association assessed as 'strong' by ClinGen.

Atypical Usher phenotype.

However, onset of visual and hearing symptoms is variable, ranging from first to fourth decade, exclude for this reason.; to: Gene-disease association assessed as 'strong' by ClinGen.

Atypical Usher phenotype.

However, onset of visual and hearing symptoms is variable, ranging from first to fourth decade, exclude for this reason, unlikely to be detected by the newborn hearing screening program.
Genomic newborn screening: BabyScreen+ v0.648 CEP78 Zornitza Stark reviewed gene: CEP78: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cone-rod dystrophy and hearing loss MIM#617236; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.648 SFTPB Seb Lunke Marked gene: SFTPB as ready
Genomic newborn screening: BabyScreen+ v0.648 SFTPB Seb Lunke Gene: sftpb has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.648 SFTPB Seb Lunke Phenotypes for gene: SFTPB were changed from Surfactant metabolism dysfunction, pulmonary to Surfactant metabolism dysfunction, pulmonary, 1, MIM# 265120
Genomic newborn screening: BabyScreen+ v0.647 SFTPB Seb Lunke Classified gene: SFTPB as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.647 SFTPB Seb Lunke Gene: sftpb has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.646 SFTPB Seb Lunke reviewed gene: SFTPB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 1, MIM# 265120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.646 SETX Seb Lunke Marked gene: SETX as ready
Genomic newborn screening: BabyScreen+ v0.646 SETX Seb Lunke Gene: setx has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.646 SETX Seb Lunke Phenotypes for gene: SETX were changed from Ataxia-ocular apraxia 2 to Spinocerebellar ataxia, autosomal recessive 1, 606002
Genomic newborn screening: BabyScreen+ v0.645 SETX Seb Lunke Classified gene: SETX as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.645 SETX Seb Lunke Gene: setx has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.644 SETX Seb Lunke reviewed gene: SETX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 1, 606002; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.644 SETBP1 Seb Lunke Marked gene: SETBP1 as ready
Genomic newborn screening: BabyScreen+ v0.644 SETBP1 Seb Lunke Gene: setbp1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.644 SETBP1 Seb Lunke Phenotypes for gene: SETBP1 were changed from Schinzel-Giedion syndrome to Schinzel-Giedion midface retraction syndrome, MIM# 269150
Genomic newborn screening: BabyScreen+ v0.643 SETBP1 Seb Lunke Classified gene: SETBP1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.643 SETBP1 Seb Lunke Gene: setbp1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.642 SETBP1 Seb Lunke reviewed gene: SETBP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Schinzel-Giedion midface retraction syndrome, MIM# 269150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.642 CLCN5 Zornitza Stark Marked gene: CLCN5 as ready
Genomic newborn screening: BabyScreen+ v0.642 CLCN5 Zornitza Stark Gene: clcn5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.642 CLCN5 Zornitza Stark Phenotypes for gene: CLCN5 were changed from Dent disease to Dent disease, MIM#300009
Genomic newborn screening: BabyScreen+ v0.641 CLCN5 Zornitza Stark Classified gene: CLCN5 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.641 CLCN5 Zornitza Stark Gene: clcn5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.640 CLCN5 Zornitza Stark reviewed gene: CLCN5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dent disease, MIM#300009; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.640 CIB2 Zornitza Stark Marked gene: CIB2 as ready
Genomic newborn screening: BabyScreen+ v0.640 CIB2 Zornitza Stark Gene: cib2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.640 CIB2 Zornitza Stark reviewed gene: CIB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 48, MIM# 609439; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.640 CHM Zornitza Stark Marked gene: CHM as ready
Genomic newborn screening: BabyScreen+ v0.640 CHM Zornitza Stark Gene: chm has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.640 CHM Zornitza Stark Phenotypes for gene: CHM were changed from Choroideremia to Choroideraemia MIM#303100
Genomic newborn screening: BabyScreen+ v0.639 CHM Zornitza Stark Classified gene: CHM as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.639 CHM Zornitza Stark Gene: chm has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.638 CHM Zornitza Stark reviewed gene: CHM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Choroideraemia MIM#303100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.638 CHKB Zornitza Stark Marked gene: CHKB as ready
Genomic newborn screening: BabyScreen+ v0.638 CHKB Zornitza Stark Gene: chkb has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.638 CHKB Zornitza Stark Phenotypes for gene: CHKB were changed from Muscular dystrophy, congenital, megaconial type to Muscular dystrophy, congenital, megaconial type, MIM# 602541
Genomic newborn screening: BabyScreen+ v0.637 CHKB Zornitza Stark Classified gene: CHKB as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.637 CHKB Zornitza Stark Gene: chkb has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.636 CHKB Zornitza Stark reviewed gene: CHKB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, congenital, megaconial type, MIM# 602541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.636 CHD2 Zornitza Stark Marked gene: CHD2 as ready
Genomic newborn screening: BabyScreen+ v0.636 CHD2 Zornitza Stark Gene: chd2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.636 CHD2 Zornitza Stark Phenotypes for gene: CHD2 were changed from Developmental delay, intellectual disability, epilepsy to Epileptic encephalopathy, childhood-onset (MIM # 615369)
Genomic newborn screening: BabyScreen+ v0.635 CHD2 Zornitza Stark Classified gene: CHD2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.635 CHD2 Zornitza Stark Gene: chd2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.634 CHD2 Zornitza Stark reviewed gene: CHD2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, childhood-onset (MIM # 615369); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.634 CFP Zornitza Stark Marked gene: CFP as ready
Genomic newborn screening: BabyScreen+ v0.634 CFP Zornitza Stark Gene: cfp has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.634 CFP Zornitza Stark reviewed gene: CFP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Properdin deficiency, X-linked MIM#312060; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.634 CFL2 Zornitza Stark Marked gene: CFL2 as ready
Genomic newborn screening: BabyScreen+ v0.634 CFL2 Zornitza Stark Gene: cfl2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.634 CFL2 Zornitza Stark Phenotypes for gene: CFL2 were changed from Nemaline myopathy to Nemaline myopathy 7, autosomal recessive, MIM# 610687
Genomic newborn screening: BabyScreen+ v0.633 CFL2 Zornitza Stark Classified gene: CFL2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.633 CFL2 Zornitza Stark Gene: cfl2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.632 CFL2 Zornitza Stark reviewed gene: CFL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 7, autosomal recessive, MIM# 610687; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.632 SERPINA1 Seb Lunke Marked gene: SERPINA1 as ready
Genomic newborn screening: BabyScreen+ v0.632 SERPINA1 Seb Lunke Gene: serpina1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.632 SERPINA1 Seb Lunke Phenotypes for gene: SERPINA1 were changed from Emphysema due to AAT deficiency, OMIM #107400; Antitrypsin alpha 1 deficiency to Emphysema-cirrhosis, due to AAT deficiency, MIM# 613490
Genomic newborn screening: BabyScreen+ v0.631 SERPINA1 Seb Lunke Classified gene: SERPINA1 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.631 SERPINA1 Seb Lunke Gene: serpina1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.630 SERPINA1 Seb Lunke Tag for review tag was added to gene: SERPINA1.
Genomic newborn screening: BabyScreen+ v0.630 SERPINA1 Seb Lunke reviewed gene: SERPINA1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Emphysema-cirrhosis, due to AAT deficiency, MIM# 613490; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.630 CFC1 Zornitza Stark Marked gene: CFC1 as ready
Genomic newborn screening: BabyScreen+ v0.630 CFC1 Zornitza Stark Gene: cfc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.630 CFC1 Zornitza Stark Phenotypes for gene: CFC1 were changed from Congenital heart defects to Heterotaxy, visceral, 2, autosomal MIM#605376
Genomic newborn screening: BabyScreen+ v0.629 CFC1 Zornitza Stark Classified gene: CFC1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.629 CFC1 Zornitza Stark Gene: cfc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.628 CFC1 Zornitza Stark reviewed gene: CFC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Heterotaxy, visceral, 2, autosomal MIM#605376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.628 CEP83 Zornitza Stark Marked gene: CEP83 as ready
Genomic newborn screening: BabyScreen+ v0.628 CEP83 Zornitza Stark Gene: cep83 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.628 CEP83 Zornitza Stark Classified gene: CEP83 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.628 CEP83 Zornitza Stark Gene: cep83 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.627 CEP83 Zornitza Stark reviewed gene: CEP83: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 18, MIM# 615862, MONDO:0014374, Retinal dystrophy, ID; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.627 CEP290 Zornitza Stark Marked gene: CEP290 as ready
Genomic newborn screening: BabyScreen+ v0.627 CEP290 Zornitza Stark Gene: cep290 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.627 CEP290 Zornitza Stark Phenotypes for gene: CEP290 were changed from Joubert syndrome to Bardet-Biedl syndrome 14, MIM# 615991; Joubert syndrome 5 610188; Leber congenital amaurosis 10, MIM# 611755; Meckel syndrome 4, MIM# 611134; Senior-Loken syndrome 6, MIM# 610189
Genomic newborn screening: BabyScreen+ v0.626 CEP290 Zornitza Stark Classified gene: CEP290 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.626 CEP290 Zornitza Stark Gene: cep290 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.625 CEP290 Zornitza Stark reviewed gene: CEP290: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 14, MIM# 615991, Joubert syndrome 5 610188, Leber congenital amaurosis 10, MIM# 611755, Meckel syndrome 4, MIM# 611134, Senior-Loken syndrome 6, MIM# 610189; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.625 SELENON Seb Lunke Marked gene: SELENON as ready
Genomic newborn screening: BabyScreen+ v0.625 SELENON Seb Lunke Gene: selenon has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.625 SELENON Seb Lunke Phenotypes for gene: SELENON were changed from Muscular dystrophy, rigid spine; Myopathy, congenital, with fiber-type disproportion to Myopathy, congenital, with fiber-type disproportion, MIM# 255310
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+ v0.623 SELENON Seb Lunke Classified gene: SELENON as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.623 SELENON Seb Lunke Gene: selenon has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.622 SELENON Seb Lunke reviewed gene: SELENON: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, congenital, with fiber-type disproportion, MIM# 255310; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.622 VCP Zornitza Stark Marked gene: VCP as ready
Genomic newborn screening: BabyScreen+ v0.622 VCP Zornitza Stark Gene: vcp has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.622 VCP Zornitza Stark Phenotypes for gene: VCP were changed from Inclusion body myopathy with early-onset paget disease and frontotemporal dementia to Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia MIM#167320; Charcot-Marie-Tooth disease, type 2Y, MIM# 616687
Genomic newborn screening: BabyScreen+ v0.621 VCP Zornitza Stark Publications for gene: VCP were set to
Genomic newborn screening: BabyScreen+ v0.620 VCP Zornitza Stark Classified gene: VCP as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.620 VCP Zornitza Stark Gene: vcp has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.619 VCP Zornitza Stark reviewed gene: VCP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 2Y, MIM# 616687; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.619 VDR Zornitza Stark Marked gene: VDR as ready
Genomic newborn screening: BabyScreen+ v0.619 VDR Zornitza Stark Gene: vdr has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.619 VDR Zornitza Stark Phenotypes for gene: VDR were changed from Vitamin D-dependent rickets to Rickets, vitamin D-resistant, type IIA MIM#277440
Genomic newborn screening: BabyScreen+ v0.618 VDR Zornitza Stark Publications for gene: VDR were set to
Genomic newborn screening: BabyScreen+ v0.617 VDR Zornitza Stark Tag treatable tag was added to gene: VDR.
Genomic newborn screening: BabyScreen+ v0.617 VHL Zornitza Stark Marked gene: VHL as ready
Genomic newborn screening: BabyScreen+ v0.617 VHL Zornitza Stark Gene: vhl has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.617 VHL Zornitza Stark Publications for gene: VHL were set to
Genomic newborn screening: BabyScreen+ v0.616 VHL Zornitza Stark Phenotypes for gene: VHL were changed from von Hippel-Lindau syndrome to von Hippel-Lindau syndrome MIM#193300
Genomic newborn screening: BabyScreen+ v0.615 VHL Zornitza Stark Tag for review tag was added to gene: VHL.
Genomic newborn screening: BabyScreen+ v0.615 CEP152 Zornitza Stark Marked gene: CEP152 as ready
Genomic newborn screening: BabyScreen+ v0.615 CEP152 Zornitza Stark Gene: cep152 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.615 CEP152 Zornitza Stark Phenotypes for gene: CEP152 were changed from Seckel syndrome to Microcephaly 9, primary, autosomal recessive, MIM# 614852; Seckel syndrome 5, MIM# 613823
Genomic newborn screening: BabyScreen+ v0.614 CEP152 Zornitza Stark Classified gene: CEP152 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.614 CEP152 Zornitza Stark Gene: cep152 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.613 CEP152 Zornitza Stark reviewed gene: CEP152: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly 9, primary, autosomal recessive, MIM# 614852, Seckel syndrome 5, MIM# 613823; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.613 CDT1 Zornitza Stark Marked gene: CDT1 as ready
Genomic newborn screening: BabyScreen+ v0.613 CDT1 Zornitza Stark Gene: cdt1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.613 CDT1 Zornitza Stark Classified gene: CDT1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.613 CDT1 Zornitza Stark Gene: cdt1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.612 CDT1 Zornitza Stark reviewed gene: CDT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Meier-Gorlin syndrome 4, MIM# 613804, MONDO:0013431; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.612 CDSN Zornitza Stark Marked gene: CDSN as ready
Genomic newborn screening: BabyScreen+ v0.612 CDSN Zornitza Stark Gene: cdsn has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.612 CDSN Zornitza Stark Phenotypes for gene: CDSN were changed from Hypotrichosis to Peeling skin syndrome 1, MIM#270300
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+ v0.610 CDSN Zornitza Stark Classified gene: CDSN as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.610 CDSN Zornitza Stark Gene: cdsn has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.609 CDSN Zornitza Stark reviewed gene: CDSN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Peeling skin syndrome 1 MIM#270300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.609 CDKL5 Zornitza Stark Marked gene: CDKL5 as ready
Genomic newborn screening: BabyScreen+ v0.609 CDKL5 Zornitza Stark Gene: cdkl5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.609 CDKL5 Zornitza Stark Phenotypes for gene: CDKL5 were changed from Epileptic encephalopathy, early infantile, 2 to Epileptic encephalopathy, early infantile, 2, MIM 300672
Genomic newborn screening: BabyScreen+ v0.608 CDKL5 Zornitza Stark Classified gene: CDKL5 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.608 CDKL5 Zornitza Stark Gene: cdkl5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.607 CDKL5 Zornitza Stark reviewed gene: CDKL5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 2, MIM 300672; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.607 CDH23 Zornitza Stark edited their review of gene: CDH23: Changed phenotypes: Usher syndrome, type 1D (MIM# 601067), Deafness, autosomal recessive 12 (MIM # 601386), Usher syndrome, type 1D/F digenic (MIM #601067)
Genomic newborn screening: BabyScreen+ v0.607 CDH23 Zornitza Stark Marked gene: CDH23 as ready
Genomic newborn screening: BabyScreen+ v0.607 CDH23 Zornitza Stark Gene: cdh23 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.607 CDH23 Zornitza Stark Phenotypes for gene: CDH23 were changed from Deafness, autosomal recessive; Usher syndrome, type 1D to Usher syndrome, type 1D (MIM# 601067); Deafness, autosomal recessive 12 (MIM # 601386); Usher syndrome, type 1D/F digenic (MIM #601067)
Genomic newborn screening: BabyScreen+ v0.606 CDH23 Zornitza Stark Tag for review tag was added to gene: CDH23.
Genomic newborn screening: BabyScreen+ v0.606 CDH23 Zornitza Stark reviewed gene: CDH23: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Usher syndrome, type 1D (MIM# 601067), Deafness, autosomal recessive 12 (MIM # 601386) Usher syndrome, type 1D/F digenic (MIM #601067); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.606 CDC14A Zornitza Stark Marked gene: CDC14A as ready
Genomic newborn screening: BabyScreen+ v0.606 CDC14A Zornitza Stark Gene: cdc14a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.606 CDC14A Zornitza Stark reviewed gene: CDC14A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 32, with or without immotile sperm, MIM# 608653; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.606 UROS Lilian Rudd reviewed gene: UROS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24027798; Phenotypes: Porphyria, congenital erythropoietic MIM#263700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.606 USH1C Lilian Rudd reviewed gene: USH1C: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301442; Phenotypes: Usher syndrome type 1 MIM#276904; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.606 USH1G Lilian Rudd reviewed gene: USH1G: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301442; Phenotypes: Usher syndrome type 1 MIM#606943; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.606 USH2A Lilian Rudd reviewed gene: USH2A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301515, PMID: 36041150 , PMID: 34331125; Phenotypes: Usher Syndrome Type II MIM#276901; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.606 VCAN Lilian Rudd edited their review of gene: VCAN: Changed rating: GREEN; Changed publications: PMID: 16043844, PMID: 20301747
Genomic newborn screening: BabyScreen+ v0.606 VCAN Lilian Rudd reviewed gene: VCAN: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Wagner syndrome MIM#143200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.606 GBA Alison Yeung reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Gaucher disease type 1, MIM#230800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.606 GATA4 Alison Yeung changed review comment from: Well-established gene-disease association for congenital heart defects and neonatal diabetes
Onset: infancy but variable expressivity and incomplete penetrance common for cardiac defects
Severity: variable defects. No syndromic features, no association with arrhythmias
Treatment: Echocardiogram and surgical repair for cardiac defects; Insulin for neonatal diabetes; to: Well-established gene-disease association for congenital heart defects and neonatal diabetes
Onset: infancy but variable expressivity and incomplete penetrance common for cardiac defects
Severity: variable defects. No syndromic features, no association with arrhythmias
Treatment: Echocardiogram and surgical repair for cardiac defects; Insulin for neonatal diabetes
Genomic newborn screening: BabyScreen+ v0.606 GATA4 Alison Yeung changed review comment from: Well-established gene-disease association
Onset: infancy (congenital heart defects) but variable expressivity and incomplete penetrance common
Severity: variable defects. No syndromic features, no association with arrhythmias
Treatment: Echocardiogram and surgical repair; to: Well-established gene-disease association for congenital heart defects and neonatal diabetes
Onset: infancy but variable expressivity and incomplete penetrance common for cardiac defects
Severity: variable defects. No syndromic features, no association with arrhythmias
Treatment: Echocardiogram and surgical repair for cardiac defects; Insulin for neonatal diabetes
Genomic newborn screening: BabyScreen+ v0.606 GATA4 Alison Yeung Tag for review tag was added to gene: GATA4.
Genomic newborn screening: BabyScreen+ v0.606 GATA4 Alison Yeung reviewed gene: GATA4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrial septal defect 2 MIM#607941, Atrioventricular septal defect 4 MIM#614430, Ventricular septal defect 1 MIM#614429; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.606 G6PD Alison Yeung Tag review tag was added to gene: G6PD.
Genomic newborn screening: BabyScreen+ v0.606 DDR2 Zornitza Stark Marked gene: DDR2 as ready
Genomic newborn screening: BabyScreen+ v0.606 DDR2 Zornitza Stark Gene: ddr2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.606 DDR2 Zornitza Stark Phenotypes for gene: DDR2 were changed from Spondylometaepiphyseal dysplasia, short limb-hand type to Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665; Warburg-Cinotti syndrome, MIM# 618175
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 DDR2 Zornitza Stark edited their review of gene: DDR2: Added comment: AR LoF variants cause a skeletal dysplasia of perinatal onset, whereas AD GoF variants cause a syndromic disorder.

No specific treatment for either.; Changed phenotypes: Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665, Warburg-Cinotti syndrome, MIM# 618175
Genomic newborn screening: BabyScreen+ v0.604 DDR2 Zornitza Stark reviewed gene: DDR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.604 VCP Lilian Rudd reviewed gene: VCP: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 16247064, PMID: 21145000; Phenotypes: Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia MIM#167320; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.604 VDR Lilian Rudd reviewed gene: VDR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32596195, PMID: 31926093, PMID: 32049653; Phenotypes: Rickets, vitamin D-resistant, type IIA MIM#277440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.604 VHL Lilian Rudd reviewed gene: VHL: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 20301636, PMID: 33945366, PMID: 34613603; Phenotypes: von Hippel-Lindau syndrome MIM#193300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.604 CD79B Zornitza Stark Marked gene: CD79B as ready
Genomic newborn screening: BabyScreen+ v0.604 CD79B Zornitza Stark Gene: cd79b has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.604 CD79B Zornitza Stark Tag treatable tag was added to gene: CD79B.
Genomic newborn screening: BabyScreen+ v0.604 CD79B Zornitza Stark reviewed gene: CD79B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinemia 6 MIM#612692; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.603 CD79A Zornitza Stark Marked gene: CD79A as ready
Genomic newborn screening: BabyScreen+ v0.603 CD79A Zornitza Stark Gene: cd79a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.603 CD79A Zornitza Stark changed review comment from: At least 5 unrelated families.

Presents in infancy.

Treatment: immunoglobulin replacement.; to: At least 5 unrelated families.

Presents in infancy with severe recurrent infections.

Treatment: immunoglobulin replacement.
Genomic newborn screening: BabyScreen+ v0.603 CD79A Zornitza Stark Tag treatable tag was added to gene: CD79A.
Genomic newborn screening: BabyScreen+ v0.603 CD79A Zornitza Stark reviewed gene: CD79A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinaemia 3, MIM#613501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.603 CD40LG Zornitza Stark Marked gene: CD40LG as ready
Genomic newborn screening: BabyScreen+ v0.603 CD40LG Zornitza Stark Gene: cd40lg has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.603 CD40LG Zornitza Stark Phenotypes for gene: CD40LG were changed from Immunodeficiency, X-linked, with hyper-IgM to Immunodeficiency, X-linked, with hyper-IgM MIM# 308230
Genomic newborn screening: BabyScreen+ v0.602 CD40LG Zornitza Stark Tag treatable tag was added to gene: CD40LG.
Genomic newborn screening: BabyScreen+ v0.602 CD40LG Zornitza Stark reviewed gene: CD40LG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency, X-linked, with hyper-IgM MIM# 308230; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.602 CD3E Zornitza Stark Marked gene: CD3E as ready
Genomic newborn screening: BabyScreen+ v0.602 CD3E Zornitza Stark Gene: cd3e has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.602 CD3E Zornitza Stark reviewed gene: CD3E: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 18 MIM# 615615; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.602 CD3D Zornitza Stark Marked gene: CD3D as ready
Genomic newborn screening: BabyScreen+ v0.602 CD3D Zornitza Stark Gene: cd3d has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.602 CD3D Zornitza Stark Tag treatable tag was added to gene: CD3D.
Genomic newborn screening: BabyScreen+ v0.602 CD3D Zornitza Stark reviewed gene: CD3D: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 19 MIM# 615617; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.602 VIPAS39 Zornitza Stark Marked gene: VIPAS39 as ready
Genomic newborn screening: BabyScreen+ v0.602 VIPAS39 Zornitza Stark Gene: vipas39 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.602 VIPAS39 Zornitza Stark Phenotypes for gene: VIPAS39 were changed from Arthrogryposis, renal dysfunction and cholestasis to Arthrogryposis, renal dysfunction, and cholestasis MIM#613404
Genomic newborn screening: BabyScreen+ v0.601 VIPAS39 Zornitza Stark Publications for gene: VIPAS39 were set to
Genomic newborn screening: BabyScreen+ v0.600 VIPAS39 Zornitza Stark Classified gene: VIPAS39 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.600 VIPAS39 Zornitza Stark Gene: vipas39 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.599 VIPAS39 Zornitza Stark reviewed gene: VIPAS39: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis MIM#613404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.599 VLDLR Zornitza Stark Marked gene: VLDLR as ready
Genomic newborn screening: BabyScreen+ v0.599 VLDLR Zornitza Stark Gene: vldlr has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.599 VLDLR Zornitza Stark Phenotypes for gene: VLDLR were changed from Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion MIM#224050
Genomic newborn screening: BabyScreen+ v0.598 VLDLR Zornitza Stark Classified gene: VLDLR as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.598 VLDLR Zornitza Stark Gene: vldlr has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.597 VPS13A Zornitza Stark Marked gene: VPS13A as ready
Genomic newborn screening: BabyScreen+ v0.597 VPS13A Zornitza Stark Gene: vps13a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.597 VPS13A Zornitza Stark Phenotypes for gene: VPS13A were changed from Choreoacanthocytosis to Choreoacanthocytosis MIM#200150
Genomic newborn screening: BabyScreen+ v0.596 VPS13A Zornitza Stark Classified gene: VPS13A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.596 VPS13A Zornitza Stark Gene: vps13a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.595 VPS13B Zornitza Stark Marked gene: VPS13B as ready
Genomic newborn screening: BabyScreen+ v0.595 VPS13B Zornitza Stark Gene: vps13b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.595 VPS13B Zornitza Stark Phenotypes for gene: VPS13B were changed from Cohen syndrome to Cohen syndrome MIM#216550
Genomic newborn screening: BabyScreen+ v0.594 VPS13B Zornitza Stark Classified gene: VPS13B as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.594 VPS13B Zornitza Stark Gene: vps13b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.593 ARSA Zornitza Stark Publications for gene: ARSA were set to
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 Marked gene: GCK as ready
Genomic newborn screening: BabyScreen+ v0.592 GCK Zornitza Stark Gene: gck has been classified as Green List (High Evidence).
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+ v0.591 GCK Zornitza Stark reviewed gene: GCK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes mellitus, noninsulin-dependent, late onset, AD (MIM#125853), Diabetes mellitus, permanent neonatal 1, AR (MIM#606176), Hyperinsulinemic hypoglycemia, familial, 3, AD (MIM#602485), MODY, type II, AD (MIM#125851); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.591 G6PC Zornitza Stark Marked gene: G6PC as ready
Genomic newborn screening: BabyScreen+ v0.591 G6PC Zornitza Stark Gene: g6pc has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.591 G6PC Zornitza Stark Publications for gene: G6PC were set to
Genomic newborn screening: BabyScreen+ v0.590 G6PC Zornitza Stark Tag treatable tag was added to gene: G6PC.
Genomic newborn screening: BabyScreen+ v0.590 G6PC Zornitza Stark reviewed gene: G6PC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease Ia, MIM# 232200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.590 FUCA1 Zornitza Stark Marked gene: FUCA1 as ready
Genomic newborn screening: BabyScreen+ v0.590 FUCA1 Zornitza Stark Gene: fuca1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.590 FUCA1 Zornitza Stark Phenotypes for gene: FUCA1 were changed from Fucosidosis to Fucosidosis, MIM# 230000
Genomic newborn screening: BabyScreen+ v0.589 FUCA1 Zornitza Stark Publications for gene: FUCA1 were set to
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+ v0.588 FUCA1 Zornitza Stark reviewed gene: FUCA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fucosidosis, MIM# 230000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.588 VIPAS39 Lilian Rudd reviewed gene: VIPAS39: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 35761207; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis MIM#613404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.588 VLDLR Lilian Rudd reviewed gene: VLDLR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion MIM#224050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.588 VPS13A Lilian Rudd reviewed gene: VPS13A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Choreoacanthocytosis MIM#200150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.588 VPS13B Lilian Rudd reviewed gene: VPS13B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cohen syndrome MIM#216550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.588 ARSA John Christodoulou reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25987178, PMID: 23348427, PMID: 33195324; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.588 BSCL2 Alison Yeung commented on gene: BSCL2
Genomic newborn screening: BabyScreen+ v0.588 CAVIN1 Alison Yeung changed review comment from: note: metreleptin available in Australia under the label of Atacand; to: note: metreleptin is available under trade name of Myalept in USA and soon to be available in Australia
Genomic newborn screening: BabyScreen+ v0.588 CAVIN1 Alison Yeung commented on gene: CAVIN1
Genomic newborn screening: BabyScreen+ v0.588 CYP21A2 Zornitza Stark Classified gene: CYP21A2 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.588 CYP21A2 Zornitza Stark Gene: cyp21a2 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.587 CYP21A2 Zornitza Stark Tag for review was removed from gene: CYP21A2.
Genomic newborn screening: BabyScreen+ v0.587 CYP21A2 Zornitza Stark edited their review of gene: CYP21A2: Changed rating: AMBER
Genomic newborn screening: BabyScreen+ v0.587 CYP11A1 Zornitza Stark Marked gene: CYP11A1 as ready
Genomic newborn screening: BabyScreen+ v0.587 CYP11A1 Zornitza Stark Gene: cyp11a1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.587 CYP11A1 Zornitza Stark Tag for review was removed from gene: CYP11A1.
Genomic newborn screening: BabyScreen+ v0.587 CYP11A1 Zornitza Stark changed review comment from: Well established gene-disease association. Congenital onset.

For review: should we include mono-allelic variants?; to: Well established gene-disease association. Congenital onset.

Mono-allelic variants discussed: a single family reported only. Does not meet criteria for inclusion. MOI set to bi-allelic.
Genomic newborn screening: BabyScreen+ v0.587 COQ7 Zornitza Stark Classified gene: COQ7 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.587 COQ7 Zornitza Stark Gene: coq7 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.586 COQ7 Zornitza Stark changed review comment from: Four families reported.

Treatment: CoQ10 supplementation can limit disease progression and reverse some clinical manifestations.; to: Four families reported only.

Treatment: CoQ10 supplementation can limit disease progression and reverse some clinical manifestations. However this advice applies to the whole group of related conditions, and data on this particular condition in terms of natural history and response to treatment is currently limited.
Genomic newborn screening: BabyScreen+ v0.586 COQ7 Zornitza Stark edited their review of gene: COQ7: Changed rating: AMBER
Genomic newborn screening: BabyScreen+ v0.586 CBS Zornitza Stark Classified gene: CBS as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.586 CBS Zornitza Stark Gene: cbs has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.585 CBS Zornitza Stark changed review comment from: Well established gene-disease association.

Multi-system disorder, onset in infancy.
In general, individuals appear normal at birth but have a progressive disease course if untreated. Clinical features typically manifest in the first or second decade of life. Intellectual disability may be the first recognizable sign and may present as developmental delay after the first to second year of life. Myopia typically occurs after age one with the majority of untreated individuals developing ectopia lentis by age 8. Roughly half of patients show signs of osteoporosis by their teens. Cerebrovascular events typically manifest during young adulthood, though they have been reported earlier. Thromboembolism is the major cause of early death and morbidity. Among B₆-responsive individuals, a vascular event in adolescence or adulthood is often the presenting feature.

Treatment: vitamin B6 (pyridoxine), methionine-restricted diet, folate, vitamin B12, betaine. Management guidelines PMID 27778219.

Non-genetic confirmatory testing: plasma total homocysteine and plasma amino acids

Paediatric actionable gene by ClinGen.

Note excluded from reproductive carrier screening tests due to poor mappability, for review.; to: Well established gene-disease association.

Multi-system disorder, onset in infancy.
In general, individuals appear normal at birth but have a progressive disease course if untreated. Clinical features typically manifest in the first or second decade of life. Intellectual disability may be the first recognizable sign and may present as developmental delay after the first to second year of life. Myopia typically occurs after age one with the majority of untreated individuals developing ectopia lentis by age 8. Roughly half of patients show signs of osteoporosis by their teens. Cerebrovascular events typically manifest during young adulthood, though they have been reported earlier. Thromboembolism is the major cause of early death and morbidity. Among B₆-responsive individuals, a vascular event in adolescence or adulthood is often the presenting feature.

Treatment: vitamin B6 (pyridoxine), methionine-restricted diet, folate, vitamin B12, betaine. Management guidelines PMID 27778219.

Non-genetic confirmatory testing: plasma total homocysteine and plasma amino acids

Paediatric actionable gene by ClinGen.

Note excluded from reproductive carrier screening tests due to poor mappability: downgraded to Amber for now.
Genomic newborn screening: BabyScreen+ v0.585 CBS Zornitza Stark edited their review of gene: CBS: Changed rating: AMBER
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 Marked gene: BCHE as ready
Genomic newborn screening: BabyScreen+ v0.585 BCHE Zornitza Stark Gene: bche has been classified as Green List (High Evidence).
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 BCHE Zornitza Stark changed review comment from: Well established gene-disease association.

Individuals are asymptomatic unless exposed to triggering agents.

Consider as a separate pharmacogenomic offering?

For review.; to: Well established gene-disease association.

Individuals are asymptomatic unless exposed to triggering agents.

Consider as a separate pharmacogenomic offering?

Group review: preventative intervention available by placing alerts in medical records.
Genomic newborn screening: BabyScreen+ v0.585 BCHE Zornitza Stark edited their review of gene: BCHE: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.585 ATP7B Zornitza Stark Tag for review was removed from gene: ATP7B.
Genomic newborn screening: BabyScreen+ v0.585 ATP7B Zornitza Stark commented on gene: ATP7B: Group discussion: acute liver failure can be fatal, and the disorder is treatable.
Genomic newborn screening: BabyScreen+ v0.585 ATP7B Zornitza Stark edited their review of gene: ATP7B: Changed rating: GREEN
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 ABCC6 Zornitza Stark changed review comment from: Well established gene-disease association.

Severe disorder with onset in infancy, can be fatal.

Treatment available: etidronate.

However, note excluded by other screening programs as severity difficult to predict from genotype and gene is also associated with PXE, a milder disorder.

There are also technical concerns due to 2x pseudogenes which cause mapping/variant calling issues in exons 1-9.; to: Well established gene-disease association.

Severe disorder with onset in infancy, can be fatal.

Treatment available: etidronate.

However, note excluded by other screening programs as severity difficult to predict from genotype and gene is also associated with PXE, a milder disorder. However, imaging may be able to determine severity.

There are also technical concerns due to 2x pseudogenes which cause mapping/variant calling issues in exons 1-9.
Genomic newborn screening: BabyScreen+ v0.585 AAAS Zornitza Stark Tag for review was removed from gene: AAAS.
Genomic newborn screening: BabyScreen+ v0.585 CDK5RAP2 Zornitza Stark Marked gene: CDK5RAP2 as ready
Genomic newborn screening: BabyScreen+ v0.585 CDK5RAP2 Zornitza Stark Gene: cdk5rap2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.585 CDK5RAP2 Zornitza Stark Classified gene: CDK5RAP2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.585 CDK5RAP2 Zornitza Stark Gene: cdk5rap2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.584 CDK5RAP2 Zornitza Stark reviewed gene: CDK5RAP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly 3, primary, autosomal recessive, MIM# 604804; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.584 FLAD1 Zornitza Stark Marked gene: FLAD1 as ready
Genomic newborn screening: BabyScreen+ v0.584 FLAD1 Zornitza Stark Gene: flad1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.584 FLAD1 Zornitza Stark Publications for gene: FLAD1 were set to
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+ v0.583 FLAD1 Zornitza Stark reviewed gene: FLAD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31392824; Phenotypes: Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MIM#255100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.583 GCK John Christodoulou reviewed gene: GCK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19790256; Phenotypes: hypoglycaemia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.583 G6PC John Christodoulou reviewed gene: G6PC: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25356975; Phenotypes: hypoglycaemia, IUGR, hepatomegaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.583 FUCA1 John Christodoulou reviewed gene: FUCA1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 33266441; Phenotypes: neurodegneration, coarse facial features, grow retardation, dysostosis multiplex, angiokeratomata, recurrent URTIs; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.583 FLAD1 John Christodoulou reviewed gene: FLAD1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30680745; Phenotypes: lactic acidosis, respiratory insufficiency, cardiomyopathy, skeletal myopathy, hypotonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.583 CCDC40 Zornitza Stark Marked gene: CCDC40 as ready
Genomic newborn screening: BabyScreen+ v0.583 CCDC40 Zornitza Stark Gene: ccdc40 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.583 CCDC40 Zornitza Stark Phenotypes for gene: CCDC40 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 15, MIM#613808
Genomic newborn screening: BabyScreen+ v0.582 CCDC40 Zornitza Stark Classified gene: CCDC40 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.582 CCDC40 Zornitza Stark Gene: ccdc40 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.581 CCDC40 Zornitza Stark reviewed gene: CCDC40: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 15, MIM#613808; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.581 CCDC39 Zornitza Stark Marked gene: CCDC39 as ready
Genomic newborn screening: BabyScreen+ v0.581 CCDC39 Zornitza Stark Gene: ccdc39 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.581 CCDC39 Zornitza Stark Phenotypes for gene: CCDC39 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 14, MIM# 613807
Genomic newborn screening: BabyScreen+ v0.580 CCDC39 Zornitza Stark Classified gene: CCDC39 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.580 CCDC39 Zornitza Stark Gene: ccdc39 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.579 CCDC39 Zornitza Stark reviewed gene: CCDC39: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 14, MIM# 613807; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.579 CC2D2A Zornitza Stark Marked gene: CC2D2A as ready
Genomic newborn screening: BabyScreen+ v0.579 CC2D2A Zornitza Stark Gene: cc2d2a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.579 CC2D2A Zornitza Stark Phenotypes for gene: CC2D2A were changed from Joubert syndrome to Joubert syndrome 9, MIM# 612285; Meckel syndrome 6, MIM# 612284; COACH syndrome 2, MIM# 619111
Genomic newborn screening: BabyScreen+ v0.578 CC2D2A Zornitza Stark Classified gene: CC2D2A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.578 CC2D2A Zornitza Stark Gene: cc2d2a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.577 CC2D2A Zornitza Stark reviewed gene: CC2D2A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 9, MIM# 612285, Meckel syndrome 6, MIM# 612284, COACH syndrome 2, MIM# 619111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.577 CAVIN1 Zornitza Stark Marked gene: CAVIN1 as ready
Genomic newborn screening: BabyScreen+ v0.577 CAVIN1 Zornitza Stark Gene: cavin1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.577 CAVIN1 Zornitza Stark Tag treatable tag was added to gene: CAVIN1.
Genomic newborn screening: BabyScreen+ v0.577 CAVIN1 Zornitza Stark Phenotypes for gene: CAVIN1 were changed from Lipodystrophy, congenital generalized, type 4 to Lipodystrophy, congenital generalized, type 4, MIM# 613327
Genomic newborn screening: BabyScreen+ v0.576 CAVIN1 Zornitza Stark Publications for gene: CAVIN1 were set to
Genomic newborn screening: BabyScreen+ v0.575 CAVIN1 Zornitza Stark Tag for review tag was added to gene: CAVIN1.
Genomic newborn screening: BabyScreen+ v0.575 CAVIN1 Zornitza Stark reviewed gene: CAVIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19726876, 20300641, 20684003, 18840361; Phenotypes: Lipodystrophy, congenital generalized, type 4, MIM# 613327; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.575 CAV3 Zornitza Stark Marked gene: CAV3 as ready
Genomic newborn screening: BabyScreen+ v0.575 CAV3 Zornitza Stark Gene: cav3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.575 CAV3 Zornitza Stark Phenotypes for gene: CAV3 were changed from Caveolinopathy; Muscular dystrophy, limb-girdle, type IC to Myopathy, distal, Tateyama type MIM#614321; Rippling muscle disease 2 MIM#606072; Creatine phosphokinase, elevated serum MIM#123320
Genomic newborn screening: BabyScreen+ v0.574 CAV3 Zornitza Stark Classified gene: CAV3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.574 CAV3 Zornitza Stark Gene: cav3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.573 CAV3 Zornitza Stark reviewed gene: CAV3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, distal, Tateyama type MIM#614321, Rippling muscle disease 2 MIM#606072, Creatine phosphokinase, elevated serum MIM#123320; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.573 CBL Zornitza Stark Marked gene: CBL as ready
Genomic newborn screening: BabyScreen+ v0.573 CBL Zornitza Stark Gene: cbl has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.573 CBL Zornitza Stark Phenotypes for gene: CBL were changed from Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia to Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563
Genomic newborn screening: BabyScreen+ v0.572 CBL Zornitza Stark Classified gene: CBL as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.572 CBL Zornitza Stark Gene: cbl has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.571 CBL Zornitza Stark reviewed gene: CBL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.571 CASQ2 Zornitza Stark Marked gene: CASQ2 as ready
Genomic newborn screening: BabyScreen+ v0.571 CASQ2 Zornitza Stark Gene: casq2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.571 CASQ2 Zornitza Stark Phenotypes for gene: CASQ2 were changed from Ventricular tachycardia, catecholaminergic polymorphic to Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938
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+ v0.569 CASQ2 Zornitza Stark Classified gene: CASQ2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.569 CASQ2 Zornitza Stark Gene: casq2 has been classified as Red List (Low Evidence).
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+ v0.568 CASQ2 Zornitza Stark reviewed gene: CASQ2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.568 CASK Zornitza Stark Marked gene: CASK as ready
Genomic newborn screening: BabyScreen+ v0.568 CASK Zornitza Stark Gene: cask has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.568 CASK Zornitza Stark Phenotypes for gene: CASK were changed from Mental retardation and microcephaly with pontine and cerebellar hypoplasia to FG syndrome 4 MIM#300422; Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749; Mental retardation, with or without nystagmus MIM#300422
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+ v0.566 CASK Zornitza Stark Classified gene: CASK as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.566 CASK Zornitza Stark Gene: cask has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.565 CASK Zornitza Stark reviewed gene: CASK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: FG syndrome 4 MIM#300422, Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749, Mental retardation, with or without nystagmus MIM#300422; Mode of inheritance: 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+ v0.565 CARD11 Zornitza Stark Marked gene: CARD11 as ready
Genomic newborn screening: BabyScreen+ v0.565 CARD11 Zornitza Stark Gene: card11 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.565 CARD11 Zornitza Stark Phenotypes for gene: CARD11 were changed from Immunodeficiency 11A, MIM# 615206 to Immunodeficiency 11A, autosomal recessive, MIM# 615206; Immunodeficiency 11B with atopic dermatitis, autosomal dominant, MIM# 617638
Genomic newborn screening: BabyScreen+ v0.564 CARD11 Zornitza Stark reviewed gene: CARD11: Rating: GREEN; Mode of pathogenicity: None; Publications: 23561803, 12818158, 23374270, 28628108; Phenotypes: Immunodeficiency 11A, autosomal recessive, MIM# 615206, Immunodeficiency 11B with atopic dermatitis, autosomal dominant, MIM# 617638; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.564 CHD7 Zornitza Stark Marked gene: CHD7 as ready
Genomic newborn screening: BabyScreen+ v0.564 CHD7 Zornitza Stark Gene: chd7 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.564 CHD7 Zornitza Stark Phenotypes for gene: CHD7 were changed from CHARGE syndrome to CHARGE syndrome, MIM# 214800
Genomic newborn screening: BabyScreen+ v0.563 CHD7 Zornitza Stark Classified gene: CHD7 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.563 CHD7 Zornitza Stark Gene: chd7 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.562 CHD7 Zornitza Stark reviewed gene: CHD7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: CHARGE syndrome, MIM# 214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.562 CA2 Zornitza Stark Marked gene: CA2 as ready
Genomic newborn screening: BabyScreen+ v0.562 CA2 Zornitza Stark Gene: ca2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.562 CA2 Zornitza Stark Phenotypes for gene: CA2 were changed from Osteopetrosis, autosomal recessive 3, with renal tubular acidosis to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730
Genomic newborn screening: BabyScreen+ v0.561 CA2 Zornitza Stark Tag treatable tag was added to gene: CA2.
Genomic newborn screening: BabyScreen+ v0.561 CA2 Zornitza Stark reviewed gene: CA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.561 CAPN3 Zornitza Stark Marked gene: CAPN3 as ready
Genomic newborn screening: BabyScreen+ v0.561 CAPN3 Zornitza Stark Gene: capn3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.561 CAPN3 Zornitza Stark Phenotypes for gene: CAPN3 were changed from Muscular dystrophy, limb-girdle, type 2A to Muscular dystrophy, limb-girdle, autosomal recessive 1, MIM# 253600
Genomic newborn screening: BabyScreen+ v0.560 CAPN3 Zornitza Stark Classified gene: CAPN3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.560 CAPN3 Zornitza Stark Gene: capn3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.559 CAPN3 Zornitza Stark reviewed gene: CAPN3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 1, MIM# 253600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.559 CACNA1F Zornitza Stark Marked gene: CACNA1F as ready
Genomic newborn screening: BabyScreen+ v0.559 CACNA1F Zornitza Stark Gene: cacna1f has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.559 CACNA1F Zornitza Stark Phenotypes for gene: CACNA1F were changed from Night blindness, congenital stationary (complete), 1A, X-linked to Aland Island eye disease MIM#300600; Cone-rod dystrophy, X-linked, 3 MIM#300476; Night blindness, congenital stationary (incomplete), 2A, X-linked MIM#300071
Genomic newborn screening: BabyScreen+ v0.558 CACNA1F Zornitza Stark Classified gene: CACNA1F as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.558 CACNA1F Zornitza Stark Gene: cacna1f has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.557 CACNA1F Zornitza Stark reviewed gene: CACNA1F: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Aland Island eye disease MIM#300600, Cone-rod dystrophy, X-linked, 3 MIM#300476, Night blindness, congenital stationary (incomplete), 2A, X-linked MIM#300071; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.557 CACNA1A Zornitza Stark Marked gene: CACNA1A as ready
Genomic newborn screening: BabyScreen+ v0.557 CACNA1A Zornitza Stark Gene: cacna1a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.557 CACNA1A Zornitza Stark Phenotypes for gene: CACNA1A were changed from Episodic ataxia, type 2 to Episodic ataxia, type 2, MIM# 108500
Genomic newborn screening: BabyScreen+ v0.556 CACNA1A Zornitza Stark Classified gene: CACNA1A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.556 CACNA1A Zornitza Stark Gene: cacna1a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.555 CACNA1A Zornitza Stark reviewed gene: CACNA1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Episodic ataxia, type 2, MIM# 108500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.555 CABP2 Zornitza Stark Marked gene: CABP2 as ready
Genomic newborn screening: BabyScreen+ v0.555 CABP2 Zornitza Stark Gene: cabp2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.555 CABP2 Zornitza Stark reviewed gene: CABP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 93, MIM# 614899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.555 SDHD Zornitza Stark Phenotypes for gene: SDHD were changed from Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167 to Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167; Paragangliomas 1, with or without deafness, MIM# 168000
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 SDHD Zornitza Stark reviewed gene: SDHD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 1, with or without deafness, MIM# 168000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 Marked gene: GATA3 as ready
Genomic newborn screening: BabyScreen+ v0.553 GATA3 Zornitza Stark Gene: gata3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.553 GATA3 Zornitza Stark Tag treatable tag was added to gene: GATA3.
Genomic newborn screening: BabyScreen+ v0.553 GATA3 Zornitza Stark reviewed gene: GATA3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.553 GATA2 Zornitza Stark Marked gene: GATA2 as ready
Genomic newborn screening: BabyScreen+ v0.553 GATA2 Zornitza Stark Gene: gata2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.553 GATA2 Zornitza Stark Publications for gene: GATA2 were set to PMID: 25397911, 30047422
Genomic newborn screening: BabyScreen+ v0.552 GATA2 Zornitza Stark Tag treatable tag was added to gene: GATA2.
Genomic newborn screening: BabyScreen+ v0.552 GAN Zornitza Stark Marked gene: GAN as ready
Genomic newborn screening: BabyScreen+ v0.552 GAN Zornitza Stark Gene: gan has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.552 GAN Zornitza Stark Phenotypes for gene: GAN were changed from Giant axonal neuropathy to Giant axonal neuropathy-1, MIM#256850
Genomic newborn screening: BabyScreen+ v0.551 GAN Zornitza Stark Classified gene: GAN as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.551 GAN Zornitza Stark Gene: gan has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.550 GAN Zornitza Stark reviewed gene: GAN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Giant axonal neuropathy-1, MIM#256850; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.550 GAMT Zornitza Stark Marked gene: GAMT as ready
Genomic newborn screening: BabyScreen+ v0.550 GAMT Zornitza Stark Gene: gamt has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.550 GAMT Zornitza Stark Tag treatable tag was added to gene: GAMT.
Genomic newborn screening: BabyScreen+ v0.550 GALNS Zornitza Stark Marked gene: GALNS as ready
Genomic newborn screening: BabyScreen+ v0.550 GALNS Zornitza Stark Gene: galns has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.550 GALNS Zornitza Stark Phenotypes for gene: GALNS were changed from Mucopolysaccharidosis IVA to Mucopolysaccharidosis IVA, MIM#253000
Genomic newborn screening: BabyScreen+ v0.549 GALNS Zornitza Stark Tag treatable tag was added to gene: GALNS.
Genomic newborn screening: BabyScreen+ v0.549 GALC Zornitza Stark Marked gene: GALC as ready
Genomic newborn screening: BabyScreen+ v0.549 GALC Zornitza Stark Gene: galc has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.549 GALC Zornitza Stark Phenotypes for gene: GALC were changed from Krabbe disease to Krabbe disease, MIM#245200
Genomic newborn screening: BabyScreen+ v0.548 GALC Zornitza Stark Tag treatable tag was added to gene: GALC.
Genomic newborn screening: BabyScreen+ v0.548 SDHD Seb Lunke Marked gene: SDHD as ready
Genomic newborn screening: BabyScreen+ v0.548 SDHD Seb Lunke Gene: sdhd has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.548 SDHD Seb Lunke Phenotypes for gene: SDHD were changed from Hereditary Paraganglioma-Pheochromocytoma Syndromes to Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167
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+ v0.546 SDHD Seb Lunke Classified gene: SDHD as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.546 SDHD Seb Lunke Gene: sdhd has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.545 SDHD Seb Lunke reviewed gene: SDHD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.545 C9 Zornitza Stark Marked gene: C9 as ready
Genomic newborn screening: BabyScreen+ v0.545 C9 Zornitza Stark Gene: c9 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.545 C9 Zornitza Stark Tag treatable tag was added to gene: C9.
Genomic newborn screening: BabyScreen+ v0.545 C9 Zornitza Stark reviewed gene: C9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: C9 deficiency MIM#613825; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.545 C8B Zornitza Stark Marked gene: C8B as ready
Genomic newborn screening: BabyScreen+ v0.545 C8B Zornitza Stark Gene: c8b has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.545 C8B Zornitza Stark reviewed gene: C8B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: C8 deficiency, type II MIM#613789; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.545 C8A Zornitza Stark Marked gene: C8A as ready
Genomic newborn screening: BabyScreen+ v0.545 C8A Zornitza Stark Gene: c8a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.545 C8A Zornitza Stark Classified gene: C8A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.545 C8A Zornitza Stark Gene: c8a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.544 C8A Zornitza Stark reviewed gene: C8A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: C8 deficiency, type I MIM#613790; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.544 C7 Zornitza Stark Marked gene: C7 as ready
Genomic newborn screening: BabyScreen+ v0.544 C7 Zornitza Stark Gene: c7 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.544 C7 Zornitza Stark Tag treatable tag was added to gene: C7.
Genomic newborn screening: BabyScreen+ v0.544 C7 Zornitza Stark reviewed gene: C7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: C7 deficiency MIM#610102; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.544 SCO2 Seb Lunke Marked gene: SCO2 as ready
Genomic newborn screening: BabyScreen+ v0.544 SCO2 Seb Lunke Gene: sco2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.544 SCO2 Seb Lunke Phenotypes for gene: SCO2 were changed from Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency to Mitochondrial complex IV deficiency, nuclear type 2, MC4DN2, MIM#604377
Genomic newborn screening: BabyScreen+ v0.543 SCO2 Seb Lunke Classified gene: SCO2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.543 SCO2 Seb Lunke Gene: sco2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.542 SCO2 Seb Lunke reviewed gene: SCO2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 2, MC4DN2, MIM#604377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.542 SCNN1B Seb Lunke Marked gene: SCNN1B as ready
Genomic newborn screening: BabyScreen+ v0.542 SCNN1B Seb Lunke Gene: scnn1b has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.542 SCNN1B Seb Lunke reviewed gene: SCNN1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudohypoaldosteronism, type I, MIM# 264350 AR, MIM#0009917; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.542 SCNN1A Seb Lunke Marked gene: SCNN1A as ready
Genomic newborn screening: BabyScreen+ v0.542 SCNN1A Seb Lunke Gene: scnn1a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.542 SCNN1A Seb Lunke Phenotypes for gene: SCNN1A were changed from Pseudohypoaldosteronism, MIM#264350 to Pseudohypoaldosteronism, type I, MIM# 264350
Genomic newborn screening: BabyScreen+ v0.541 SCNN1A Seb Lunke reviewed gene: SCNN1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudohypoaldosteronism, type I, MIM# 264350 AR, MIM#0009917; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.541 SCN8A Seb Lunke Marked gene: SCN8A as ready
Genomic newborn screening: BabyScreen+ v0.541 SCN8A Seb Lunke Gene: scn8a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.541 SCN8A Seb Lunke reviewed gene: SCN8A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27559564; Phenotypes: Developmental and epileptic encephalopathy 13, MIM#614558; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.541 GATA3 Alison Yeung reviewed gene: GATA3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.541 GATA2 Alison Yeung reviewed gene: GATA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 21, MIM# 614172, MONDO:0042982, Emberger syndrome, MIM# 614038, MONDO:0013540; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.541 GAN Alison Yeung reviewed gene: GAN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Giant axonal neuropathy-1, MIM#256850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.541 GAMT Alison Yeung reviewed gene: GAMT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral creatine deficiency syndrome 2, MIM#612736; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.541 GALNS Alison Yeung reviewed gene: GALNS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis IVA, MIM#253000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.541 GALC Alison Yeung reviewed gene: GALC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Krabbe disease, MIM#245200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.541 C6 Zornitza Stark Tag treatable tag was added to gene: C6.
Genomic newborn screening: BabyScreen+ v0.541 C6 Zornitza Stark Marked gene: C6 as ready
Genomic newborn screening: BabyScreen+ v0.541 C6 Zornitza Stark Gene: c6 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.541 C6 Zornitza Stark reviewed gene: C6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: C6 deficiency MIM#612446; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.541 FH Zornitza Stark Marked gene: FH as ready
Genomic newborn screening: BabyScreen+ v0.541 FH Zornitza Stark Gene: fh has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.541 FH Zornitza Stark Tag treatable tag was added to gene: FH.
Genomic newborn screening: BabyScreen+ v0.541 FH Zornitza Stark reviewed gene: FH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fumarase deficiency, MIM#606812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.541 FBP1 Zornitza Stark Marked gene: FBP1 as ready
Genomic newborn screening: BabyScreen+ v0.541 FBP1 Zornitza Stark Gene: fbp1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.541 FBP1 Zornitza Stark reviewed gene: FBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fructose-1,6-bisphosphatase deficiency, MIM# 229700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.541 FAH Zornitza Stark Marked gene: FAH as ready
Genomic newborn screening: BabyScreen+ v0.541 FAH Zornitza Stark Gene: fah has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.541 FAH Zornitza Stark Tag treatable tag was added to gene: FAH.
Genomic newborn screening: BabyScreen+ v0.541 FAH Zornitza Stark reviewed gene: FAH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tyrosinaemia, type I, MIM# 276700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.541 ETHE1 Zornitza Stark Tag treatable tag was added to gene: ETHE1.
Genomic newborn screening: BabyScreen+ v0.541 ETHE1 Zornitza Stark Marked gene: ETHE1 as ready
Genomic newborn screening: BabyScreen+ v0.541 ETHE1 Zornitza Stark Gene: ethe1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.541 ETHE1 Zornitza Stark changed review comment from: Well established gene-disease association.

Onset in infancy.; to: Well established gene-disease association.

Onset in infancy. Typically high mortality.
Genomic newborn screening: BabyScreen+ v0.541 ETHE1 Zornitza Stark reviewed gene: ETHE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ethylmalonic encephalopathy, MIM# 602473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.541 FH John Christodoulou reviewed gene: FH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: mitochondrial encephalopathy, failure to thrive, developmental delay, hypotonia, cerebral atrophy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.541 FBP1 John Christodoulou reviewed gene: FBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: fasting hypoglycemia, metabolic acidosis, ketosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.541 FAH John Christodoulou reviewed gene: FAH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.541 ETHE1 John Christodoulou reviewed gene: ETHE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: petechiae, acrocyanosis, chronic diarrhoea, ID, regression; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.541 DPAGT1 Zornitza Stark Marked gene: DPAGT1 as ready
Genomic newborn screening: BabyScreen+ v0.541 DPAGT1 Zornitza Stark Gene: dpagt1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.541 DPAGT1 Zornitza Stark Phenotypes for gene: DPAGT1 were changed from Congenital disorder of glycosylation, type Ij, MIM#614750 to Congenital disorder of glycosylation, type Ij, MIM# 608093; DPAGT1-CDG MONDO:0011964; Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750
Genomic newborn screening: BabyScreen+ v0.540 DPAGT1 Zornitza Stark Tag for review tag was added to gene: DPAGT1.
Genomic newborn screening: BabyScreen+ v0.540 DPAGT1 Zornitza Stark reviewed gene: DPAGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ij, MIM# 608093, DPAGT1-CDG MONDO:0011964, Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.540 DOLK Zornitza Stark Marked gene: DOLK as ready
Genomic newborn screening: BabyScreen+ v0.540 DOLK Zornitza Stark Gene: dolk has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.540 DOLK Zornitza Stark Classified gene: DOLK as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.540 DOLK Zornitza Stark Gene: dolk has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.539 DOLK Zornitza Stark changed review comment from: Established gene-disease association.

Congenital onset. Severe multi-system disorder, mortality in infancy.; to: Established gene-disease association.

Congenital onset. Severe multi-system disorder, mortality in infancy.

No specific treatment.
Genomic newborn screening: BabyScreen+ v0.539 DOLK Zornitza Stark reviewed gene: DOLK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Im, MIM# 610768; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.539 DLD Zornitza Stark Marked gene: DLD as ready
Genomic newborn screening: BabyScreen+ v0.539 DLD Zornitza Stark Gene: dld has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.539 DLD Zornitza Stark Classified gene: DLD as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.539 DLD Zornitza Stark Gene: dld has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.538 DLD Zornitza Stark reviewed gene: DLD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dihydrolipoamide dehydrogenase deficiency MIM#246900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.538 DHCR7 Zornitza Stark Marked gene: DHCR7 as ready
Genomic newborn screening: BabyScreen+ v0.538 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.538 DHCR7 Zornitza Stark Phenotypes for gene: DHCR7 were changed from Smith-Lemli-Opitz syndrome to Smith-Lemli-Opitz syndrome, MIM#270400
Genomic newborn screening: BabyScreen+ v0.537 DHCR7 Zornitza Stark Classified gene: DHCR7 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.537 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.536 DHCR7 Zornitza Stark Tag for review tag was added to gene: DHCR7.
Genomic newborn screening: BabyScreen+ v0.536 DHCR7 Zornitza Stark reviewed gene: DHCR7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Smith-Lemli-Opitz syndrome, MIM#270400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.536 DGUOK Zornitza Stark Marked gene: DGUOK as ready
Genomic newborn screening: BabyScreen+ v0.536 DGUOK Zornitza Stark Gene: dguok has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.536 DGUOK Zornitza Stark Phenotypes for gene: DGUOK were changed from Mitochondrial DNA depletion syndrome to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880
Genomic newborn screening: BabyScreen+ v0.535 DGUOK Zornitza Stark Classified gene: DGUOK as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.535 DGUOK Zornitza Stark Gene: dguok has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.534 DGUOK Zornitza Stark Tag for review tag was added to gene: DGUOK.
Genomic newborn screening: BabyScreen+ v0.534 DGUOK Zornitza Stark reviewed gene: DGUOK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.534 DDC Zornitza Stark Marked gene: DDC as ready
Genomic newborn screening: BabyScreen+ v0.534 DDC Zornitza Stark Gene: ddc has been classified as Green List (High Evidence).
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 DDC Zornitza Stark reviewed gene: DDC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aromatic L-amino acid decarboxylase deficiency MIM# 608643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.534 DGAT1 Zornitza Stark Marked gene: DGAT1 as ready
Genomic newborn screening: BabyScreen+ v0.534 DGAT1 Zornitza Stark Gene: dgat1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.534 DGAT1 Zornitza Stark Tag treatable tag was added to gene: DGAT1.
Genomic newborn screening: BabyScreen+ v0.534 DGAT1 Zornitza Stark reviewed gene: DGAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diarrhoea 7, protein-losing enteropathy type, MIM# 615863; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.534 D2HGDH Zornitza Stark Marked gene: D2HGDH as ready
Genomic newborn screening: BabyScreen+ v0.534 D2HGDH Zornitza Stark Gene: d2hgdh has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.534 D2HGDH Zornitza Stark Phenotypes for gene: D2HGDH were changed from D-2-hydroxyglutaric aciduria to D-2-hydroxyglutaric aciduria MIM#600721
Genomic newborn screening: BabyScreen+ v0.533 D2HGDH Zornitza Stark Classified gene: D2HGDH as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.533 D2HGDH Zornitza Stark Gene: d2hgdh has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.532 D2HGDH Zornitza Stark reviewed gene: D2HGDH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: D-2-hydroxyglutaric aciduria MIM#600721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.532 CYP27B1 Zornitza Stark Marked gene: CYP27B1 as ready
Genomic newborn screening: BabyScreen+ v0.532 CYP27B1 Zornitza Stark Gene: cyp27b1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.532 CYP27B1 Zornitza Stark Phenotypes for gene: CYP27B1 were changed from Vitamin D-dependent rickets, type I to Vitamin D-dependent rickets, type I MIM#264700
Genomic newborn screening: BabyScreen+ v0.531 CYP27B1 Zornitza Stark Tag treatable tag was added to gene: CYP27B1.
Genomic newborn screening: BabyScreen+ v0.531 CYP27B1 Zornitza Stark reviewed gene: CYP27B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Vitamin D-dependent rickets, type I MIM#264700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.531 CYP27A1 Zornitza Stark Marked gene: CYP27A1 as ready
Genomic newborn screening: BabyScreen+ v0.531 CYP27A1 Zornitza Stark Gene: cyp27a1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.531 CYP27A1 Zornitza Stark Phenotypes for gene: CYP27A1 were changed from Cerebrotendinous xanthomatosis to Cerebrotendinous xanthomatosis, MIM# 213700
Genomic newborn screening: BabyScreen+ v0.530 CYP27A1 Zornitza Stark Classified gene: CYP27A1 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.530 CYP27A1 Zornitza Stark Gene: cyp27a1 has been classified as Amber List (Moderate Evidence).
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 CYP27A1 Zornitza Stark edited their review of gene: CYP27A1: Changed rating: RED
Genomic newborn screening: BabyScreen+ v0.529 CYP27A1 Zornitza Stark reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebrotendinous xanthomatosis, MIM# 213700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.529 CYP17A1 Zornitza Stark Marked gene: CYP17A1 as ready
Genomic newborn screening: BabyScreen+ v0.529 CYP17A1 Zornitza Stark Gene: cyp17a1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.529 CYP17A1 Zornitza Stark Tag treatable tag was added to gene: CYP17A1.
Genomic newborn screening: BabyScreen+ v0.529 CYP17A1 Zornitza Stark reviewed gene: CYP17A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.529 CYP11B2 Zornitza Stark Marked gene: CYP11B2 as ready
Genomic newborn screening: BabyScreen+ v0.529 CYP11B2 Zornitza Stark Gene: cyp11b2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.529 CYP11B2 Zornitza Stark Tag treatable tag was added to gene: CYP11B2.
Genomic newborn screening: BabyScreen+ v0.529 CYP11B2 Zornitza Stark reviewed gene: CYP11B2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypoaldosteronism, congenital, due to CMO I deficiency (MIM#203400) or due to CMO II deficiency (MIM#610600).; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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+ v0.529 CYP11A1 Zornitza Stark reviewed gene: CYP11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM# 613743; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.529 CYP11B1 Zornitza Stark Marked gene: CYP11B1 as ready
Genomic newborn screening: BabyScreen+ v0.529 CYP11B1 Zornitza Stark Gene: cyp11b1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.529 CYP11B1 Zornitza Stark Publications for gene: CYP11B1 were set to
Genomic newborn screening: BabyScreen+ v0.528 CYP11B1 Zornitza Stark Tag treatable tag was added to gene: CYP11B1.
Genomic newborn screening: BabyScreen+ v0.528 CYP11B1 Zornitza Stark reviewed gene: CYP11B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM# 202010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.528 CUBN Zornitza Stark Marked gene: CUBN as ready
Genomic newborn screening: BabyScreen+ v0.528 CUBN Zornitza Stark Gene: cubn has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.528 CUBN Zornitza Stark Tag treatable tag was added to gene: CUBN.
Genomic newborn screening: BabyScreen+ v0.528 CUBN Zornitza Stark reviewed gene: CUBN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Imerslund-Grasbeck syndrome 1 MIM#261100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.528 CTSD Zornitza Stark Marked gene: CTSD as ready
Genomic newborn screening: BabyScreen+ v0.528 CTSD Zornitza Stark Gene: ctsd has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.528 CTSD Zornitza Stark Phenotypes for gene: CTSD were changed from Ceroid lipofuscinosis, neuronal, 10 to Ceroid lipofuscinosis, neuronal, 10, MIM# 610127
Genomic newborn screening: BabyScreen+ v0.527 CTSD Zornitza Stark Classified gene: CTSD as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.527 CTSD Zornitza Stark Gene: ctsd has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.526 CTSD Zornitza Stark reviewed gene: CTSD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 10, MIM# 610127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.526 CTNS Zornitza Stark Marked gene: CTNS as ready
Genomic newborn screening: BabyScreen+ v0.526 CTNS Zornitza Stark Gene: ctns has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.526 CTNS Zornitza Stark Phenotypes for gene: CTNS were changed from Cystinosis to Cystinosis, nephropathic MIM#219800
Genomic newborn screening: BabyScreen+ v0.525 CTNS Zornitza Stark Tag treatable tag was added to gene: CTNS.
Genomic newborn screening: BabyScreen+ v0.525 CTNS Zornitza Stark reviewed gene: CTNS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cystinosis, nephropathic MIM#219800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.525 CPS1 Zornitza Stark Marked gene: CPS1 as ready
Genomic newborn screening: BabyScreen+ v0.525 CPS1 Zornitza Stark Gene: cps1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.525 CPS1 Zornitza Stark Publications for gene: CPS1 were set to
Genomic newborn screening: BabyScreen+ v0.524 CPS1 Zornitza Stark Tag treatable tag was added to gene: CPS1.
Genomic newborn screening: BabyScreen+ v0.524 CPS1 Zornitza Stark reviewed gene: CPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28281899; Phenotypes: Carbamoylphosphate synthetase I deficiency MIM#237300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.524 COQ9 Zornitza Stark Tag for review tag was added to gene: COQ9.
Genomic newborn screening: BabyScreen+ v0.524 COQ9 Zornitza Stark edited their review of gene: COQ9: Added comment: Listed as treatable on rx-genes based on expert opinion. For review.; Changed rating: AMBER
Genomic newborn screening: BabyScreen+ v0.524 COQ9 Zornitza Stark Marked gene: COQ9 as ready
Genomic newborn screening: BabyScreen+ v0.524 COQ9 Zornitza Stark Gene: coq9 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.524 COQ9 Zornitza Stark Classified gene: COQ9 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.524 COQ9 Zornitza Stark Gene: coq9 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.523 COQ9 Zornitza Stark reviewed gene: COQ9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 5, MIM#614654; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.523 DPAGT1 John Christodoulou reviewed gene: DPAGT1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.523 DOLK John Christodoulou reviewed gene: DOLK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.523 DLD John Christodoulou reviewed gene: DLD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: neuroregresson, lactic acidosis, dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.523 DHCR7 John Christodoulou reviewed gene: DHCR7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.523 DGUOK John Christodoulou reviewed gene: DGUOK: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: liver failure, ophthalmoplegia, ID; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.523 DDC John Christodoulou reviewed gene: DDC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: hypotonia, oculogyric crises, temperature instability, ID, autonomic dysfunction, sleep disturbance, choreoathetosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.523 DGAT1 John Christodoulou reviewed gene: DGAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31778854; Phenotypes: intractable diarrhoea; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.523 D2HGDH John Christodoulou reviewed gene: D2HGDH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: developmental delay, dysmorphism, epileptic encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.523 CYP27B1 John Christodoulou reviewed gene: CYP27B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: rickets; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.523 CYP27A1 John Christodoulou reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: diarrhoea, cataracts, xanthomas, progressive ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.523 CYP17A1 John Christodoulou reviewed gene: CYP17A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: congenital adrenal hyperplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.523 CYP11B2 John Christodoulou reviewed gene: CYP11B2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: primary hyperaldosteronism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.523 CYP11B1 John Christodoulou reviewed gene: CYP11B1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27928728; Phenotypes: congenital adrenal hyperplasia, aldosteronism; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.523 CYP11A1 John Christodoulou reviewed gene: CYP11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25096886; Phenotypes: congenital adrenal hyperplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.523 CUBN John Christodoulou commented on gene: CUBN: defect of intestinal vitamin B12 absorption; treatable with pharmacological doses of parenteral vitamin B12
Genomic newborn screening: BabyScreen+ v0.523 CUBN John Christodoulou reviewed gene: CUBN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: megaloblastic anaemia, sensorimotor neuropathy, failure to thrive, cognitive impairment; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.523 CTSD John Christodoulou reviewed gene: CTSD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: neuronal ceroid lipofuscinosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.523 CTNS John Christodoulou reviewed gene: CTNS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi tubulopathy, photophobia, chronic renal failure; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.523 CPS1 John Christodoulou reviewed gene: CPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: neonatal hyperammonaemia and subsequent recurrent episodes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.523 COQ9 John Christodoulou reviewed gene: COQ9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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+ v0.523 VPS33B Zornitza Stark Marked gene: VPS33B as ready
Genomic newborn screening: BabyScreen+ v0.523 VPS33B Zornitza Stark Gene: vps33b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.523 VPS33B Zornitza Stark Phenotypes for gene: VPS33B were changed from Arthrogryposis renal dysfunction cholestasis syndrome to Arthrogryposis, renal dysfunction, and cholestasis MIM#208085
Genomic newborn screening: BabyScreen+ v0.522 VPS33B Zornitza Stark Publications for gene: VPS33B were set to
Genomic newborn screening: BabyScreen+ v0.521 VPS33B Zornitza Stark Classified gene: VPS33B as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.521 VPS33B Zornitza Stark Gene: vps33b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.520 VPS45 Zornitza Stark Marked gene: VPS45 as ready
Genomic newborn screening: BabyScreen+ v0.520 VPS45 Zornitza Stark Gene: vps45 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.520 VPS45 Zornitza Stark Publications for gene: VPS45 were set to
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+ v0.518 WDR62 Zornitza Stark Marked gene: WDR62 as ready
Genomic newborn screening: BabyScreen+ v0.518 WDR62 Zornitza Stark Gene: wdr62 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.518 WDR62 Zornitza Stark Phenotypes for gene: WDR62 were changed from Microcephaly 2, primary, autosomal recessive, with or without cortical malformations to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations MIM#604317
Genomic newborn screening: BabyScreen+ v0.517 WDR62 Zornitza Stark Publications for gene: WDR62 were set to
Genomic newborn screening: BabyScreen+ v0.516 WDR62 Zornitza Stark Classified gene: WDR62 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.516 WDR62 Zornitza Stark Gene: wdr62 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.515 WFS1 Zornitza Stark Marked gene: WFS1 as ready
Genomic newborn screening: BabyScreen+ v0.515 WFS1 Zornitza Stark Gene: wfs1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.515 WFS1 Zornitza Stark Phenotypes for gene: WFS1 were changed from Wolfram syndrome to Wolfram syndrome MIM#222300
Genomic newborn screening: BabyScreen+ v0.514 WFS1 Zornitza Stark Publications for gene: WFS1 were set to
Genomic newborn screening: BabyScreen+ v0.513 WFS1 Zornitza Stark Classified gene: WFS1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.513 WFS1 Zornitza Stark Gene: wfs1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.512 WHRN Zornitza Stark Marked gene: WHRN as ready
Genomic newborn screening: BabyScreen+ v0.512 WHRN Zornitza Stark Gene: whrn has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.512 WHRN Zornitza Stark reviewed gene: WHRN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Usher syndrome, type 2D MIM# 611383; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.512 WRAP53 Zornitza Stark Marked gene: WRAP53 as ready
Genomic newborn screening: BabyScreen+ v0.512 WRAP53 Zornitza Stark Gene: wrap53 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.512 WRAP53 Zornitza Stark Classified gene: WRAP53 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.512 WRAP53 Zornitza Stark Gene: wrap53 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.511 WRN Zornitza Stark Marked gene: WRN as ready
Genomic newborn screening: BabyScreen+ v0.511 WRN Zornitza Stark Gene: wrn has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.511 WRN Zornitza Stark Phenotypes for gene: WRN were changed from Werner syndrome to Werner syndrome MIM#277700
Genomic newborn screening: BabyScreen+ v0.510 WRN Zornitza Stark Publications for gene: WRN were set to
Genomic newborn screening: BabyScreen+ v0.509 WRN Zornitza Stark Classified gene: WRN as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.509 WRN Zornitza Stark Gene: wrn has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.508 XIAP Zornitza Stark Tag treatable tag was added to gene: XIAP.
Genomic newborn screening: BabyScreen+ v0.508 XIAP Zornitza Stark Marked gene: XIAP as ready
Genomic newborn screening: BabyScreen+ v0.508 XIAP Zornitza Stark Gene: xiap has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.508 XIAP Zornitza Stark Publications for gene: XIAP were set to
Genomic newborn screening: BabyScreen+ v0.507 SCN3A Seb Lunke Marked gene: SCN3A as ready
Genomic newborn screening: BabyScreen+ v0.507 SCN3A Seb Lunke Gene: scn3a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.507 SCN3A Seb Lunke Phenotypes for gene: SCN3A were changed from Developmental and epileptic encephalopathy 62, MIM# 617938 to Epileptic encephalopathy, early infantile, 62, MIM# 617938
Genomic newborn screening: BabyScreen+ v0.506 SCN3A Seb Lunke Publications for gene: SCN3A were set to
Genomic newborn screening: BabyScreen+ v0.505 SCN3A Seb Lunke reviewed gene: SCN3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 34081427; Phenotypes: Epileptic encephalopathy, early infantile, 62, MIM# 617938; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.505 SCN2A Seb Lunke Marked gene: SCN2A as ready
Genomic newborn screening: BabyScreen+ v0.505 SCN2A Seb Lunke Gene: scn2a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.505 SCN2A Seb Lunke changed review comment from: Established gene-disease association. Childhood onset, severe neurological disorder.

Treatment: Phenytoin; high dose carbamazepine

Non-genetic confirmatory test: not available; to: Established gene-disease association.

Childhood onset, severe neurological disorder.

Treatment: Phenytoin; high dose carbamazepine

Non-genetic confirmatory test: not available
Genomic newborn screening: BabyScreen+ v0.505 SCN2A Seb Lunke reviewed gene: SCN2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 11, MIM# 613721; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.505 SCN1A Seb Lunke Marked gene: SCN1A as ready
Genomic newborn screening: BabyScreen+ v0.505 SCN1A Seb Lunke Gene: scn1a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.505 SCN1A Seb Lunke Phenotypes for gene: SCN1A were changed from Dravet syndrome, MIM#604403; Developmental and epileptic encephalopathy 6B, non-Dravet , MIM#619317 to Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM#604403; Developmental and epileptic encephalopathy 6B, non-Dravet , MIM#619317
Genomic newborn screening: BabyScreen+ v0.504 SCN1A Seb Lunke Publications for gene: SCN1A were set to
Genomic newborn screening: BabyScreen+ v0.503 SCN1A Seb Lunke reviewed gene: SCN1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301494; Phenotypes: Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.503 VPS33B Lilian Rudd reviewed gene: VPS33B: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 15052268, 15052268, 18853461; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis MIM#208085; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.503 VPS45 Lilian Rudd reviewed gene: VPS45: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30294941, PMID: 32037586, PMID: 23738510; Phenotypes: Neutropenia, severe congenital, 5, MIM# 615285; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.503 WAS Lilian Rudd 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+ v0.503 WDR62 Lilian Rudd reviewed gene: WDR62: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 35188728; Phenotypes: Microcephaly 2, primary, autosomal recessive, with or without cortical malformations MIM#604317; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.503 WFS1 Lilian Rudd reviewed gene: WFS1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301750, PMID: 11317350, PMID: 20738327, PMID: 31337416; Phenotypes: Wolfram syndrome MIM#222300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.503 WHRN Lilian Rudd commented on gene: WHRN: Definitive gene disease association Usher, moderate evidence it can also cause a non syndromic hearing loss phenotype.
Congenital hearing impairment, childhood onset visual loss
Treatment supportive, clinical trials for retinitis pigmentosa

*I think we should keep hearing loss genes on as it's part of traditional newborn screening*
Genomic newborn screening: BabyScreen+ v0.503 WHRN Lilian Rudd reviewed gene: WHRN: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID:26338283, PMID:22147658, PMID:17171570, PMID:21738389; Phenotypes: Usher syndrome, type 2D MIM# 611383; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.503 WRAP53 Lilian Rudd reviewed gene: WRAP53: Rating: RED; Mode of pathogenicity: None; Publications: PMID:21205863, 19250907, 20301779; Phenotypes: dyskeratosis congenita MIM#613988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.503 WRN Lilian Rudd reviewed gene: WRN: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301687; Phenotypes: Werner syndrome MIM#277700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.503 XIAP Lilian Rudd reviewed gene: XIAP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:22228567, 20489057, 17080092, 24942515, 25943627; Phenotypes: Lymphoproliferative syndrome, X-linked, 2 MIM#300635; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.503 GAA Zornitza Stark Marked gene: GAA as ready
Genomic newborn screening: BabyScreen+ v0.503 GAA Zornitza Stark Gene: gaa has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.503 GAA Zornitza Stark Phenotypes for gene: GAA were changed from Glycogen storage disease II, MIM#232300 to Glycogen storage disease II, Pompe disease, MIM# 232300
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+ v0.502 GAA Alison Yeung changed review comment from: Well establishes gene-disease association

Onset: Classic infantile form causes cardiomyopathy and severe hypotonia in infancy (<1 year); Late-onset form causes severe weakness and respiratory insufficiency with onset after 12 months; Adult form presents with progressive myopathy

Severity: Infantile form fatal in first year of life if untreated

Treatment: Enzyme replacement therapy with alglucosidase alfa prior to 6 months of age prolongs survival, reduces cardiac size and allows acquisition of motor skills; to: Well establishes gene-disease association

Onset: Classic infantile form causes cardiomyopathy and severe hypotonia in infancy (<1 year); Late-onset form causes severe weakness and respiratory insufficiency with onset after 12 months; Adult form presents with progressive myopathy

Severity: Infantile form fatal in first year of life if untreated

Treatment: Enzyme replacement therapy with alglucosidase alfa prior to 6 months of age prolongs survival, reduces cardiac size and allows acquisition of motor skills

Non-molecular confirmatory test: enzyme activity analysis
Genomic newborn screening: BabyScreen+ v0.502 G6PD Zornitza Stark Marked gene: G6PD as ready
Genomic newborn screening: BabyScreen+ v0.502 G6PD Zornitza Stark Gene: g6pd has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.502 GAA Alison Yeung reviewed gene: GAA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease II, Pompe disease, MIM# 232300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Genomic newborn screening: BabyScreen+ v0.502 SCN11A Seb Lunke Marked gene: SCN11A as ready
Genomic newborn screening: BabyScreen+ v0.502 SCN11A Seb Lunke Gene: scn11a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.502 SCN11A Seb Lunke Phenotypes for gene: SCN11A were changed from Episodic pain syndrome to Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548
Genomic newborn screening: BabyScreen+ v0.501 SCN11A Seb Lunke Classified gene: SCN11A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.501 SCN11A Seb Lunke Gene: scn11a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.500 SCN11A Seb Lunke reviewed gene: SCN11A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.500 SBDS Seb Lunke Marked gene: SBDS as ready
Genomic newborn screening: BabyScreen+ v0.500 SBDS Seb Lunke Gene: sbds has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.500 SBDS Seb Lunke Phenotypes for gene: SBDS were changed from Shwachman-Bodian-Diamond syndrome to Shwachman-Diamond syndrome, MIM# 260400
Genomic newborn screening: BabyScreen+ v0.499 SBDS Seb Lunke Publications for gene: SBDS were set to
Genomic newborn screening: BabyScreen+ v0.498 SBDS Seb Lunke reviewed gene: SBDS: Rating: GREEN; Mode of pathogenicity: None; Publications: 22191555, 20301722; Phenotypes: Shwachman-Diamond syndrome, MIM# 260400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.498 BLNK Zornitza Stark Marked gene: BLNK as ready
Genomic newborn screening: BabyScreen+ v0.498 BLNK Zornitza Stark Gene: blnk has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.498 BLNK Zornitza Stark Publications for gene: BLNK were set to
Genomic newborn screening: BabyScreen+ v0.497 C5 Zornitza Stark Marked gene: C5 as ready
Genomic newborn screening: BabyScreen+ v0.497 C5 Zornitza Stark Gene: c5 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.497 C5 Zornitza Stark Tag treatable tag was added to gene: C5.
Genomic newborn screening: BabyScreen+ v0.497 C5 Zornitza Stark reviewed gene: C5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: C5 deficiency (MIM#609536); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.497 SAMHD1 Seb Lunke Marked gene: SAMHD1 as ready
Genomic newborn screening: BabyScreen+ v0.497 SAMHD1 Seb Lunke Gene: samhd1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.497 SAMHD1 Seb Lunke Phenotypes for gene: SAMHD1 were changed from Aicardi-Goutieres syndrome to Aicardi-Goutieres syndrome 5, MIM# 612952
Genomic newborn screening: BabyScreen+ v0.496 SAMHD1 Seb Lunke Publications for gene: SAMHD1 were set to
Genomic newborn screening: BabyScreen+ v0.495 SAMHD1 Seb Lunke reviewed gene: SAMHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32877590; Phenotypes: Aicardi-Goutieres syndrome 5, MIM# 612952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.495 BSND Zornitza Stark Marked gene: BSND as ready
Genomic newborn screening: BabyScreen+ v0.495 BSND Zornitza Stark Gene: bsnd has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.495 BSND Zornitza Stark Phenotypes for gene: BSND were changed from Bartter syndrome with sensorineural deafness to Bartter syndrome, type 4a, MIM# 602522
Genomic newborn screening: BabyScreen+ v0.494 BSND Zornitza Stark Tag treatable tag was added to gene: BSND.
Genomic newborn screening: BabyScreen+ v0.494 BSND Zornitza Stark reviewed gene: BSND: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bartter syndrome, type 4a, MIM# 602522; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.494 SALL1 Seb Lunke Marked gene: SALL1 as ready
Genomic newborn screening: BabyScreen+ v0.494 SALL1 Seb Lunke Gene: sall1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.494 BSCL2 Zornitza Stark Marked gene: BSCL2 as ready
Genomic newborn screening: BabyScreen+ v0.494 BSCL2 Zornitza Stark Gene: bscl2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.494 SALL1 Seb Lunke Phenotypes for gene: SALL1 were changed from Townes-Brocks syndrome to Townes-Brocks syndrome 1, MIM#107480
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+ v0.493 BSCL2 Zornitza Stark edited their review of gene: BSCL2: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.493 BSCL2 Zornitza Stark reviewed gene: BSCL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lipodystrophy, congenital generalized, type 2, MIM# 269700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.493 SALL1 Seb Lunke Classified gene: SALL1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.493 SALL1 Seb Lunke Gene: sall1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.492 SALL1 Seb Lunke reviewed gene: SALL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Townes-Brocks syndrome 1, MIM#107480; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.492 SACS Seb Lunke Marked gene: SACS as ready
Genomic newborn screening: BabyScreen+ v0.492 SACS Seb Lunke Gene: sacs has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.492 SACS Seb Lunke Phenotypes for gene: SACS were changed from Spastic ataxia Charlevoix-Saguenay type to Spastic ataxia, Charlevoix-Saguenay type MIM#270550
Genomic newborn screening: BabyScreen+ v0.491 SACS Seb Lunke Classified gene: SACS as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.491 SACS Seb Lunke Gene: sacs has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.490 SACS Seb Lunke reviewed gene: SACS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic ataxia, Charlevoix-Saguenay type MIM#270550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Genomic newborn screening: BabyScreen+ v0.490 G6PD Alison Yeung reviewed gene: G6PD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemolytic anemia, G6PD deficient (favism), MIM# 300908; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.490 BRIP1 Zornitza Stark Marked gene: BRIP1 as ready
Genomic newborn screening: BabyScreen+ v0.490 BRIP1 Zornitza Stark Gene: brip1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.490 BRIP1 Zornitza Stark Tag treatable tag was added to gene: BRIP1.
Genomic newborn screening: BabyScreen+ v0.490 BRIP1 Zornitza Stark reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anaemia, complementation group J, MIM# 609054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.490 G6PC3 Alison Yeung reviewed gene: G6PC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Genomic newborn screening: BabyScreen+ v0.490 BMPR1A Zornitza Stark Marked gene: BMPR1A as ready
Genomic newborn screening: BabyScreen+ v0.490 BMPR1A Zornitza Stark Gene: bmpr1a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.490 BMPR1A Zornitza Stark Classified gene: BMPR1A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.490 BMPR1A Zornitza Stark Gene: bmpr1a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.489 BMPR1A Zornitza Stark Tag for review tag was added to gene: BMPR1A.
Genomic newborn screening: BabyScreen+ v0.489 BMPR1A Zornitza Stark reviewed gene: BMPR1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Polyposis, juvenile intestinal, MIM# 174900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.489 BLM Zornitza Stark Marked gene: BLM as ready
Genomic newborn screening: BabyScreen+ v0.489 BLM Zornitza Stark Gene: blm has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.489 BLM Zornitza Stark Phenotypes for gene: BLM were changed from Bloom syndrome to Bloom syndrome, MIM# 210900
Genomic newborn screening: BabyScreen+ v0.488 BLM Zornitza Stark Classified gene: BLM as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.488 BLM Zornitza Stark Gene: blm has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.487 BLM Zornitza Stark reviewed gene: BLM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bloom syndrome, MIM# 210900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.487 ADGRV1 Zornitza Stark Marked gene: ADGRV1 as ready
Genomic newborn screening: BabyScreen+ v0.487 ADGRV1 Zornitza Stark Gene: adgrv1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.487 ADGRV1 Zornitza Stark Phenotypes for gene: ADGRV1 were changed from Usher syndrome, type 2C to Usher syndrome, type 2C, MIM# 605472
Genomic newborn screening: BabyScreen+ v0.486 ADGRV1 Zornitza Stark reviewed gene: ADGRV1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Usher syndrome, type 2C, MIM# 605472; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.486 ACADVL Zornitza Stark Marked gene: ACADVL as ready
Genomic newborn screening: BabyScreen+ v0.486 ACADVL Zornitza Stark Gene: acadvl has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.486 ACADVL Zornitza Stark Publications for gene: ACADVL were set to
Genomic newborn screening: BabyScreen+ v0.485 ACAD9 Zornitza Stark Marked gene: ACAD9 as ready
Genomic newborn screening: BabyScreen+ v0.485 ACAD9 Zornitza Stark Gene: acad9 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.485 ACAD9 Zornitza Stark Tag treatable tag was added to gene: ACAD9.
Genomic newborn screening: BabyScreen+ v0.485 G6PC Alison Yeung reviewed gene: G6PC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease Ia, MIM# 232200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.485 ACAD9 Zornitza Stark reviewed gene: ACAD9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 20, MIM# 611126; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.485 ACTG1 Zornitza Stark Marked gene: ACTG1 as ready
Genomic newborn screening: BabyScreen+ v0.485 ACTG1 Zornitza Stark Gene: actg1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.485 ACTG1 Zornitza Stark Phenotypes for gene: ACTG1 were changed from Baraitser-Winter syndrome; Deafness, autosomal dominant to Baraitser-Winter syndrome 2MIM#614583; Deafness, autosomal dominant 20/26 MIM#604717
Genomic newborn screening: BabyScreen+ v0.484 ACTG1 Zornitza Stark Classified gene: ACTG1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.484 ACTG1 Zornitza Stark Gene: actg1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.483 ACTG1 Zornitza Stark reviewed gene: ACTG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Baraitser-Winter syndrome 2MIM#614583, Deafness, autosomal dominant 20/26 MIM#604717; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.483 ACAD8 Zornitza Stark Marked gene: ACAD8 as ready
Genomic newborn screening: BabyScreen+ v0.483 ACAD8 Zornitza Stark Gene: acad8 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.483 ACAD8 Zornitza Stark Phenotypes for gene: ACAD8 were changed from Isobutyryl-CoA dehydrogenase deficiency to Isobutyryl-CoA dehydrogenase deficiency MIM#611283
Genomic newborn screening: BabyScreen+ v0.482 ACAD8 Zornitza Stark Classified gene: ACAD8 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.482 ACAD8 Zornitza Stark Gene: acad8 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.481 ACAD8 Zornitza Stark reviewed gene: ACAD8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Isobutyryl-CoA dehydrogenase deficiency MIM#611283; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.481 OSMR Zornitza Stark Marked gene: OSMR as ready
Genomic newborn screening: BabyScreen+ v0.481 OSMR Zornitza Stark Gene: osmr has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.481 OSMR Zornitza Stark Phenotypes for gene: OSMR were changed from Amyloidosis, primary cutaneous to Amyloidosis, primary localized cutaneous, 1 - MIM#105250
Genomic newborn screening: BabyScreen+ v0.480 OSMR Zornitza Stark Classified gene: OSMR as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.480 OSMR Zornitza Stark Gene: osmr has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.479 OSMR Zornitza Stark reviewed gene: OSMR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Amyloidosis, primary localized cutaneous, 1 - MIM#105250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.479 ORC1 Zornitza Stark Marked gene: ORC1 as ready
Genomic newborn screening: BabyScreen+ v0.479 ORC1 Zornitza Stark Gene: orc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.479 ORC1 Zornitza Stark Phenotypes for gene: ORC1 were changed from Meier-Gorlin syndrome to Meier-Gorlin syndrome 1, MIM# 224690
Genomic newborn screening: BabyScreen+ v0.478 ORC1 Zornitza Stark Classified gene: ORC1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.478 ORC1 Zornitza Stark Gene: orc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.477 ORC1 Zornitza Stark reviewed gene: ORC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Meier-Gorlin syndrome 1, MIM# 224690; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal