PanelApp

Activity

Filter

Cancel
Date Panel Item Activity
3000 actions
Fetal anomalies v1.80 CDK5 Zornitza Stark Classified gene: CDK5 as Amber List (moderate evidence)
Fetal anomalies v1.80 CDK5 Zornitza Stark Gene: cdk5 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.79 CDK5 Zornitza Stark reviewed gene: CDK5: Rating: AMBER; Mode of pathogenicity: None; Publications: 25560765, 32273484, 32097629, 28854363, 7490100; Phenotypes: Lissencephaly 7 with cerebellar hypoplasia, MIM# 616342; Mode of inheritance: None
Mendeliome v1.565 CDK5 Zornitza Stark Publications for gene: CDK5 were set to 25560765
Mendeliome v1.564 CDK5 Zornitza Stark Classified gene: CDK5 as Amber List (moderate evidence)
Mendeliome v1.564 CDK5 Zornitza Stark Gene: cdk5 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.563 CDK5 Zornitza Stark edited their review of gene: CDK5: Added comment: Upgraded to Amber following GenCC discrepancy resolution: single family with four affected individuals but extensive supportive experimental evidence including mouse models.; Changed rating: AMBER; Changed publications: 25560765, 32273484, 32097629, 28854363, 7490100
Cerebellar and Pontocerebellar Hypoplasia v1.59 CDK5 Zornitza Stark Publications for gene: CDK5 were set to 25560765
Cerebellar and Pontocerebellar Hypoplasia v1.58 CDK5 Zornitza Stark Classified gene: CDK5 as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v1.58 CDK5 Zornitza Stark Gene: cdk5 has been classified as Amber List (Moderate Evidence).
Lissencephaly and Band Heterotopia v1.14 CDK5 Zornitza Stark Publications for gene: CDK5 were set to 25560765
Cerebellar and Pontocerebellar Hypoplasia v1.57 CDK5 Zornitza Stark edited their review of gene: CDK5: Added comment: Upgraded to Amber following GenCC discrepancy resolution: single family with four affected individuals but extensive supportive experimental evidence including mouse models.; Changed rating: AMBER; Changed publications: 25560765, 32273484, 32097629, 28854363, 7490100; Changed phenotypes: Lissencephaly 7 with cerebellar hypoplasia, MIM# 616342
Lissencephaly and Band Heterotopia v1.13 CDK5 Zornitza Stark Classified gene: CDK5 as Amber List (moderate evidence)
Lissencephaly and Band Heterotopia v1.13 CDK5 Zornitza Stark Gene: cdk5 has been classified as Amber List (Moderate Evidence).
Lissencephaly and Band Heterotopia v1.12 CDK5 Zornitza Stark edited their review of gene: CDK5: Added comment: Upgraded to Amber following GenCC discrepancy resolution: single family with four affected individuals but extensive supportive experimental evidence including mouse models.; Changed rating: AMBER; Changed publications: 25560765, 32273484, 32097629, 28854363, 7490100; Changed phenotypes: Lissencephaly 7 with cerebellar hypoplasia, MIM# 616342
Bone Marrow Failure v1.27 MBD4 Zornitza Stark Marked gene: MBD4 as ready
Bone Marrow Failure v1.27 MBD4 Zornitza Stark Gene: mbd4 has been classified as Green List (High Evidence).
Bone Marrow Failure v1.27 MBD4 Zornitza Stark Classified gene: MBD4 as Green List (high evidence)
Bone Marrow Failure v1.27 MBD4 Zornitza Stark Gene: mbd4 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.32 ONECUT1 Teresa Zhao gene: ONECUT1 was added
gene: ONECUT1 was added to Monogenic Diabetes. Sources: Literature
Mode of inheritance for gene: ONECUT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ONECUT1 were set to PMID: 34663987
Phenotypes for gene: ONECUT1 were set to Syndromic diabetes
Review for gene: ONECUT1 was set to AMBER
Added comment: Two homozygous ONECUT1 variants (p.E231* and p.E231D) identified in two unrelated patients, respectively, with intrauterine growth retardation, pancreas hypoplasia and gallbladder agenesis/hypoplasia, and early-onset diabetes.
Sources: Literature
Mendeliome v1.563 SLC26A6 Arina Puzriakova gene: SLC26A6 was added
gene: SLC26A6 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SLC26A6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC26A6 were set to 35115415; 21170874; 32660969
Phenotypes for gene: SLC26A6 were set to Enteric hyperoxaluria and nephrolithiasis
Added comment: Cornière et al. 2022 (PMID: 35115415) identified a single family with a heterozygous missense VUS (c.1519C>T/p.R507W) in the SLC26A6 gene. However, the variant was found in 5 out of 280 674 alleles reported in gnomAD (Europeans and South Asians). In vitro studies showed that the variant affects both SLC26A6 transport activity and membrane surface expression, in turn reducing Cl− dependant oxalate transport. Cotransfection studies indicated a dominant-negative effect on WT. Slc26a6 null mice similarly displayed hyperoxalemia and hyperoxaluria which were caused by defective intestinal back-secretion of dietary oxalate (PMID: 21170874; 32660969)

SLC26A6 is currently not associated with any human phenotype in OMIM or G2P.
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.1545 TCOF1 Seb Lunke Marked gene: TCOF1 as ready
Genomic newborn screening: BabyScreen+ v0.1545 TCOF1 Seb Lunke Gene: tcof1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1545 TCOF1 Seb Lunke Phenotypes for gene: TCOF1 were changed from Treacher Collins syndrome 1 to Treacher Collins syndrome 1, MIM# 154500
Genomic newborn screening: BabyScreen+ v0.1544 TCOF1 Seb Lunke Classified gene: TCOF1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1544 TCOF1 Seb Lunke Gene: tcof1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1543 TCOF1 Seb Lunke reviewed gene: TCOF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Treacher Collins syndrome 1, MIM# 154500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1543 TCN2 Seb Lunke Marked gene: TCN2 as ready
Genomic newborn screening: BabyScreen+ v0.1543 TCN2 Seb Lunke Gene: tcn2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1543 TCN2 Seb Lunke Phenotypes for gene: TCN2 were changed from Transcobalamin II deficiency, 275350 to Transcobalamin II deficiency MIM# 275350
Genomic newborn screening: BabyScreen+ v0.1542 TCN2 Seb Lunke reviewed gene: TCN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Transcobalamin II deficiency MIM# 275350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1542 TCIRG1 Seb Lunke Marked gene: TCIRG1 as ready
Genomic newborn screening: BabyScreen+ v0.1542 TCIRG1 Seb Lunke Gene: tcirg1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1542 TCIRG1 Seb Lunke Phenotypes for gene: TCIRG1 were changed from Osteopetrosis, infantile malignant to Osteopetrosis, autosomal recessive 1, MIM# 259700
Genomic newborn screening: BabyScreen+ v0.1541 TCIRG1 Seb Lunke reviewed gene: TCIRG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 1, MIM# 259700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1541 TCF3 Seb Lunke Marked gene: TCF3 as ready
Genomic newborn screening: BabyScreen+ v0.1541 TCF3 Seb Lunke Gene: tcf3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1541 TCF3 Seb Lunke Phenotypes for gene: TCF3 were changed from Agammaglobulinaemia 8, autosomal dominant, MIM# 616941 to Agammaglobulinaemia 8, autosomal dominant, MIM# 616941; Agammaglobulinaemia 8B, autosomal recessive, MIM# 619824
Genomic newborn screening: BabyScreen+ v0.1540 TCF3 Seb Lunke Mode of inheritance for gene: TCF3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1539 TCF3 Seb Lunke reviewed gene: TCF3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinaemia 8, autosomal dominant, MIM# 616941, Agammaglobulinaemia 8B, autosomal recessive, MIM# 619824; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1539 TBX5 Seb Lunke Marked gene: TBX5 as ready
Genomic newborn screening: BabyScreen+ v0.1539 TBX5 Seb Lunke Gene: tbx5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1539 TBX5 Seb Lunke Phenotypes for gene: TBX5 were changed from Holt-Oram syndrome to Holt-Oram syndrome, MIM# 142900
Genomic newborn screening: BabyScreen+ v0.1538 TBX5 Seb Lunke Classified gene: TBX5 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1538 TBX5 Seb Lunke Gene: tbx5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1537 TBX5 Seb Lunke reviewed gene: TBX5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Holt-Oram syndrome, MIM# 142900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1537 TBX19 Seb Lunke Marked gene: TBX19 as ready
Genomic newborn screening: BabyScreen+ v0.1537 TBX19 Seb Lunke Gene: tbx19 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1537 TBX19 Seb Lunke Publications for gene: TBX19 were set to
Genomic newborn screening: BabyScreen+ v0.1536 TBX19 Seb Lunke Tag treatable tag was added to gene: TBX19.
Tag endocrine tag was added to gene: TBX19.
Genomic newborn screening: BabyScreen+ v0.1536 TBX19 Seb Lunke reviewed gene: TBX19: Rating: GREEN; Mode of pathogenicity: None; Publications: 30086867; Phenotypes: Adrenocorticotropic hormone deficiency, 201400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1536 TBX1 Seb Lunke Marked gene: TBX1 as ready
Genomic newborn screening: BabyScreen+ v0.1536 TBX1 Seb Lunke Gene: tbx1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1536 TBX1 Seb Lunke Phenotypes for gene: TBX1 were changed from DiGeorge syndrome to DiGeorge syndrome MIM# 188400; Velocardiofacial syndrome MIM# 192430
Genomic newborn screening: BabyScreen+ v0.1535 TBX1 Seb Lunke Classified gene: TBX1 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1535 TBX1 Seb Lunke Gene: tbx1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1534 TBX1 Seb Lunke Tag for review tag was added to gene: TBX1.
Tag cardiac tag was added to gene: TBX1.
Tag immunological tag was added to gene: TBX1.
Genomic newborn screening: BabyScreen+ v0.1534 TBX1 Seb Lunke reviewed gene: TBX1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: DiGeorge syndrome MIM# 188400, Velocardiofacial syndrome MIM# 192430; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1534 TBC1D24 Seb Lunke Marked gene: TBC1D24 as ready
Genomic newborn screening: BabyScreen+ v0.1534 TBC1D24 Seb Lunke Gene: tbc1d24 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1534 TBC1D24 Seb Lunke Phenotypes for gene: TBC1D24 were changed from Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome to DOORS syndrome MIM#220500
Genomic newborn screening: BabyScreen+ v0.1533 TBC1D24 Seb Lunke Classified gene: TBC1D24 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1533 TBC1D24 Seb Lunke Gene: tbc1d24 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1532 TBC1D24 Seb Lunke reviewed gene: TBC1D24: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: DOORS syndrome MIM#220500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1532 TAZ Seb Lunke Marked gene: TAZ as ready
Genomic newborn screening: BabyScreen+ v0.1532 TAZ Seb Lunke Gene: taz has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1532 TAZ Seb Lunke Publications for gene: TAZ were set to
Genomic newborn screening: BabyScreen+ v0.1531 TAZ Seb Lunke reviewed gene: TAZ: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Barth syndrome, MIM# 302060; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1531 TAZ Seb Lunke Deleted their review
Genomic newborn screening: BabyScreen+ v0.1531 TAZ Seb Lunke Classified gene: TAZ as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1531 TAZ Seb Lunke Gene: taz has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1530 TAZ Seb Lunke reviewed gene: TAZ: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Barth syndrome, MIM# 302060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.563 WDFY3 Zornitza Stark Phenotypes for gene: WDFY3 were changed from Microcephaly 18, primary, autosomal dominant, MIM#617520 to Microcephaly 18, primary, autosomal dominant, MIM#617520; Neurodevelopmental disorder with macrocephaly
Genomic newborn screening: BabyScreen+ v0.1530 TIMM8A Lilian Downie reviewed gene: TIMM8A: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 20301395; Phenotypes: Mohr-Tranebjaerg syndrome MIM#304700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1530 TK2 Lilian Downie reviewed gene: TK2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 23230576, PMID: 29602790, PMID: 31125140; Phenotypes: Mitochondrial DNA depletion syndrome 2 (myopathic type) MIM#609560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1530 SURF1 Seb Lunke Marked gene: SURF1 as ready
Genomic newborn screening: BabyScreen+ v0.1530 SURF1 Seb Lunke Gene: surf1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1530 SURF1 Seb Lunke Phenotypes for gene: SURF1 were changed from Leigh syndrome, due to COX deficiency to Charcot-Marie-Tooth disease, type 4K MIM#616684; Mitochondrial complex IV deficiency, nuclear type 1 MIM#220110
Genomic newborn screening: BabyScreen+ v0.1529 SURF1 Seb Lunke Classified gene: SURF1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1529 SURF1 Seb Lunke Gene: surf1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1528 SURF1 Seb Lunke reviewed gene: SURF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4K MIM#616684, Mitochondrial complex IV deficiency, nuclear type 1 MIM#220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1528 SUOX Seb Lunke Marked gene: SUOX as ready
Genomic newborn screening: BabyScreen+ v0.1528 SUOX Seb Lunke Gene: suox has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1528 SUOX Seb Lunke Phenotypes for gene: SUOX were changed from Sulphite oxidase deficiency to Sulfite oxidase deficiency, MIM# 272300
Genomic newborn screening: BabyScreen+ v0.1527 SUOX Seb Lunke Tag for review tag was added to gene: SUOX.
Tag metabolic tag was added to gene: SUOX.
Genomic newborn screening: BabyScreen+ v0.1527 SUOX Seb Lunke Classified gene: SUOX as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1527 SUOX Seb Lunke Gene: suox has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1526 SUOX Seb Lunke reviewed gene: SUOX: Rating: AMBER; Mode of pathogenicity: None; Publications: 28933809; Phenotypes: Sulfite oxidase deficiency, MIM# 272300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1526 SUCLG1 Seb Lunke Marked gene: SUCLG1 as ready
Genomic newborn screening: BabyScreen+ v0.1526 SUCLG1 Seb Lunke Gene: suclg1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1526 SUCLG1 Seb Lunke Phenotypes for gene: SUCLG1 were changed from Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) MIM#245400
Genomic newborn screening: BabyScreen+ v0.1525 SUCLG1 Seb Lunke Classified gene: SUCLG1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1525 SUCLG1 Seb Lunke Gene: suclg1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1524 SUCLG1 Seb Lunke reviewed gene: SUCLG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) MIM#245400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1524 SUCLA2 Seb Lunke Marked gene: SUCLA2 as ready
Genomic newborn screening: BabyScreen+ v0.1524 SUCLA2 Seb Lunke Gene: sucla2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1524 SUCLA2 Seb Lunke Phenotypes for gene: SUCLA2 were changed from Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with methylmalonic aciduria) to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM# 612073, MONDO:0012791
Genomic newborn screening: BabyScreen+ v0.1523 SUCLA2 Seb Lunke Classified gene: SUCLA2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1523 SUCLA2 Seb Lunke Gene: sucla2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1522 SUCLA2 Seb Lunke reviewed gene: SUCLA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM# 612073, MONDO:0012791; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1522 STXBP2 Seb Lunke Marked gene: STXBP2 as ready
Genomic newborn screening: BabyScreen+ v0.1522 STXBP2 Seb Lunke Gene: stxbp2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1522 STXBP2 Seb Lunke Phenotypes for gene: STXBP2 were changed from Haemophagocytic lymphohistiocytosis, MIM#613101 to Hemophagocytic lymphohistiocytosis, familial, 5, MIM# 613101
Genomic newborn screening: BabyScreen+ v0.1521 STXBP2 Seb Lunke changed review comment from: Established gene-disease association.

Childhood onset, multi-system disorder

Treatment: Emapalumab ,Hematopoietic stem cell transplantation (HSCT) - bone marrow transplant

Non-genetic confirmatory test: natural killer cell activity, cytotoxic T lymphocyte activity; to: Established gene-disease association.

Childhood onset, hyperinflammatory disorder

Treatment: Emapalumab ,Hematopoietic stem cell transplantation (HSCT) - bone marrow transplant

Non-genetic confirmatory test: natural killer cell activity, cytotoxic T lymphocyte activity
Genomic newborn screening: BabyScreen+ v0.1521 STXBP2 Seb Lunke reviewed gene: STXBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemophagocytic lymphohistiocytosis, familial, 5, MIM# 613101; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1521 STXBP1 Seb Lunke Marked gene: STXBP1 as ready
Genomic newborn screening: BabyScreen+ v0.1521 STXBP1 Seb Lunke Gene: stxbp1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1521 STXBP1 Seb Lunke Phenotypes for gene: STXBP1 were changed from Epileptic encephalopathy, early infantile to Developmental and epileptic encephalopathy 4, MIM# 612164
Genomic newborn screening: BabyScreen+ v0.1520 STXBP1 Seb Lunke Classified gene: STXBP1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1520 STXBP1 Seb Lunke Gene: stxbp1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1519 STXBP1 Seb Lunke reviewed gene: STXBP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 4, MIM# 612164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1519 STXBP1 Seb Lunke Deleted their review
Genomic newborn screening: BabyScreen+ v0.1519 STXBP1 Seb Lunke Deleted their comment
Genomic newborn screening: BabyScreen+ v0.1519 STXBP1 Seb Lunke reviewed gene: STXBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 4, MIM# 612164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1519 STX11 Seb Lunke Marked gene: STX11 as ready
Genomic newborn screening: BabyScreen+ v0.1519 STX11 Seb Lunke Gene: stx11 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1519 STX11 Seb Lunke reviewed gene: STX11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Haemophagocytic lymphohistiocytosis, familial, 4 , MIM#603552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1519 STS Seb Lunke Marked gene: STS as ready
Genomic newborn screening: BabyScreen+ v0.1519 STS Seb Lunke Gene: sts has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1519 STS Seb Lunke Phenotypes for gene: STS were changed from Ichthyosis, X-linked to Ichthyosis, X-linked, MIM# 308100
Genomic newborn screening: BabyScreen+ v0.1518 STS Seb Lunke Classified gene: STS as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1518 STS Seb Lunke Gene: sts has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1517 STS Seb Lunke reviewed gene: STS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, X-linked, MIM# 308100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1517 TMC1 Lilian Downie reviewed gene: TMC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:11850618, PMID: 26879195; Phenotypes: Deafness, autosomal recessive 7 MIM#600974; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1517 TMEM43 Lilian Downie reviewed gene: TMEM43: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301310, PMID: 34674311; Phenotypes: Arrhythmogenic right ventricular dysplasia 5 MIM#604400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1517 STRC Seb Lunke Marked gene: STRC as ready
Genomic newborn screening: BabyScreen+ v0.1517 STRC Seb Lunke Gene: strc has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1517 STRC Seb Lunke Tag for review tag was added to gene: STRC.
Genomic newborn screening: BabyScreen+ v0.1517 STRC Seb Lunke Phenotypes for gene: STRC were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 16, MIM# 603720
Genomic newborn screening: BabyScreen+ v0.1516 STRC Seb Lunke Classified gene: STRC as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1516 STRC Seb Lunke Gene: strc has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1515 STRC Seb Lunke reviewed gene: STRC: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 16, MIM# 603720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1515 STRA6 Seb Lunke Marked gene: STRA6 as ready
Genomic newborn screening: BabyScreen+ v0.1515 STRA6 Seb Lunke Gene: stra6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1515 STRA6 Seb Lunke Phenotypes for gene: STRA6 were changed from Microphthalmia, syndromic to Microphthalmia, syndromic 9, MIM# 601186
Genomic newborn screening: BabyScreen+ v0.1514 STRA6 Seb Lunke Classified gene: STRA6 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1514 STRA6 Seb Lunke Gene: stra6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1513 STRA6 Seb Lunke reviewed gene: STRA6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Microphthalmia, syndromic 9, MIM# 601186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1513 STK11 Seb Lunke Marked gene: STK11 as ready
Genomic newborn screening: BabyScreen+ v0.1513 STK11 Seb Lunke Gene: stk11 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1513 STK11 Seb Lunke Phenotypes for gene: STK11 were changed from Peutz-Jeghers syndrome to Peutz-Jeghers syndrome, MIM# 175200
Genomic newborn screening: BabyScreen+ v0.1512 STK11 Seb Lunke Publications for gene: STK11 were set to
Genomic newborn screening: BabyScreen+ v0.1511 STK11 Seb Lunke Classified gene: STK11 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1511 STK11 Seb Lunke Gene: stk11 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1510 STK11 Seb Lunke Tag for review tag was added to gene: STK11.
Genomic newborn screening: BabyScreen+ v0.1510 STK11 Seb Lunke reviewed gene: STK11: Rating: RED; Mode of pathogenicity: None; Publications: 20301443; Phenotypes: Peutz-Jeghers syndrome, MIM# 175200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1510 STAT3 Seb Lunke Marked gene: STAT3 as ready
Genomic newborn screening: BabyScreen+ v0.1510 STAT3 Seb Lunke Gene: stat3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1510 STAT3 Seb Lunke Phenotypes for gene: STAT3 were changed from Hyper-IgE recurrent infection syndrome to Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952
Genomic newborn screening: BabyScreen+ v0.1509 STAT3 Seb Lunke reviewed gene: STAT3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1509 STAR Seb Lunke Marked gene: STAR as ready
Genomic newborn screening: BabyScreen+ v0.1509 STAR Seb Lunke Gene: star has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1509 STAR Seb Lunke Phenotypes for gene: STAR were changed from Congenital lipoid adrenal hyperplasia, MIM#201710 to Congenital lipoid adrenal hyperplasia, MIM#201710
Genomic newborn screening: BabyScreen+ v0.1508 STAR Seb Lunke reviewed gene: STAR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lipoid adrenal hyperplasia (MIM#201710); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1508 STAC3 Seb Lunke Marked gene: STAC3 as ready
Genomic newborn screening: BabyScreen+ v0.1508 STAC3 Seb Lunke Gene: stac3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1508 STAC3 Seb Lunke Classified gene: STAC3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1508 STAC3 Seb Lunke Gene: stac3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1507 STAC3 Seb Lunke reviewed gene: STAC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, congenital, Baily-Bloch, MIM# 255995; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1507 SRP54 Seb Lunke Marked gene: SRP54 as ready
Genomic newborn screening: BabyScreen+ v0.1507 SRP54 Seb Lunke Gene: srp54 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1507 SRP54 Seb Lunke reviewed gene: SRP54: Rating: ; Mode of pathogenicity: None; Publications: 20301722; Phenotypes: Neutropaenia, severe congenital, 8, autosomal dominant, MIM# 618752; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.1507 SRCAP Seb Lunke Marked gene: SRCAP as ready
Genomic newborn screening: BabyScreen+ v0.1507 SRCAP Seb Lunke Gene: srcap has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1507 SRCAP Seb Lunke Phenotypes for gene: SRCAP were changed from Floating-Harbor syndrome to Floating-Harbor syndrome MIM#136140; Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, MIM# 619595
Genomic newborn screening: BabyScreen+ v0.1506 SRCAP Seb Lunke Classified gene: SRCAP as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1506 SRCAP Seb Lunke Gene: srcap has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1505 SRCAP Seb Lunke reviewed gene: SRCAP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Floating-Harbor syndrome MIM#136140, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, MIM# 619595; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1505 SPTLC1 Seb Lunke Marked gene: SPTLC1 as ready
Genomic newborn screening: BabyScreen+ v0.1505 SPTLC1 Seb Lunke Gene: sptlc1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1505 SPTLC1 Seb Lunke Phenotypes for gene: SPTLC1 were changed from Neuropathy, hereditary sensory and autonomic, type IA to Neuropathy, hereditary sensory and autonomic, type IA, MIM# 162400
Genomic newborn screening: BabyScreen+ v0.1504 SPTLC1 Seb Lunke Classified gene: SPTLC1 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1504 SPTLC1 Seb Lunke Gene: sptlc1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1503 SPTLC1 Seb Lunke reviewed gene: SPTLC1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IA, MIM# 162400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1503 PRX Zornitza Stark Marked gene: PRX as ready
Genomic newborn screening: BabyScreen+ v0.1503 PRX Zornitza Stark Gene: prx has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1503 PRX Zornitza Stark Phenotypes for gene: PRX were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, type 4F, MIM# 614895; Dejerine-Sottas disease, MIM# 145900
Genomic newborn screening: BabyScreen+ v0.1502 PRX Zornitza Stark Classified gene: PRX as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1502 PRX Zornitza Stark Gene: prx has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1501 PRX Zornitza Stark reviewed gene: PRX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4F, MIM# 614895, Dejerine-Sottas disease, MIM# 145900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1501 PSAP Zornitza Stark Marked gene: PSAP as ready
Genomic newborn screening: BabyScreen+ v0.1501 PSAP Zornitza Stark Gene: psap has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1501 PSAP Zornitza Stark Phenotypes for gene: PSAP were changed from Metachromatic leukodystrophy to Parkinson disease; Combined SAP deficiency, MIM# 611721; Encephalopathy due to prosaposin deficiency, MONDO:0012719; Krabbe disease, atypical, MIM# 611722; Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900; Gaucher disease, atypical, MIM# 610539
Genomic newborn screening: BabyScreen+ v0.1500 PSAP Zornitza Stark Mode of inheritance for gene: PSAP was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1499 PSAP Zornitza Stark Classified gene: PSAP as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1499 PSAP Zornitza Stark Gene: psap has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1498 PSAP Zornitza Stark reviewed gene: PSAP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Parkinson disease, Combined SAP deficiency, MIM# 611721, Encephalopathy due to prosaposin deficiency, MONDO:0012719, Krabbe disease, atypical, MIM# 611722, Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900, Gaucher disease, atypical, MIM# 610539; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1498 TMEM67 Lilian Downie reviewed gene: TMEM67: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20232449 PMID: 26092869, PMID: 27336129; Phenotypes: COACH syndrome MIM#216360, Joubert syndrome MIM#10688, Meckel syndrome MIM#607361, Nephronophthisis MIM#613550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1498 TMIE Lilian Downie reviewed gene: TMIE: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301607, PMID: 33987950; Phenotypes: Deafness, autosomal recessive 6 MIM#600971; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1498 TMPRSS3 Lilian Downie reviewed gene: TMPRSS3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34868270; Phenotypes: deafness, autosomal recessive MIM#601072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hyperinsulinism v1.6 MPI Zornitza Stark Publications for gene: MPI were set to PMID: 29531722; 0980531
Hyperinsulinism v1.5 MPI Zornitza Stark Classified gene: MPI as Green List (high evidence)
Hyperinsulinism v1.5 MPI Zornitza Stark Gene: mpi has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1498 PTCH1 Zornitza Stark Marked gene: PTCH1 as ready
Genomic newborn screening: BabyScreen+ v0.1498 PTCH1 Zornitza Stark Gene: ptch1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1498 PTCH1 Zornitza Stark Phenotypes for gene: PTCH1 were changed from Nevoid basal cell carcinoma syndrome to Basal cell nevus syndrome, MIM# 109400
Genomic newborn screening: BabyScreen+ v0.1497 PTCH1 Zornitza Stark Classified gene: PTCH1 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1497 PTCH1 Zornitza Stark Gene: ptch1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1496 PTCH1 Zornitza Stark Tag for review tag was added to gene: PTCH1.
Tag cancer tag was added to gene: PTCH1.
Genomic newborn screening: BabyScreen+ v0.1496 PTCH1 Zornitza Stark reviewed gene: PTCH1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Basal cell nevus syndrome, MIM# 109400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1496 PTEN Zornitza Stark Marked gene: PTEN as ready
Genomic newborn screening: BabyScreen+ v0.1496 PTEN Zornitza Stark Gene: pten has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1496 PTEN Zornitza Stark Phenotypes for gene: PTEN were changed from Cowden disease; Bannayan-Riley-Ruvalcaba syndrome to Cowden syndrome 1, MIM# 158350; Macrocephaly/autism syndrome, MIM# 605309
Genomic newborn screening: BabyScreen+ v0.1495 PTEN Zornitza Stark Classified gene: PTEN as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1495 PTEN Zornitza Stark Gene: pten has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1494 PTEN Zornitza Stark Tag for review tag was added to gene: PTEN.
Tag cancer tag was added to gene: PTEN.
Genomic newborn screening: BabyScreen+ v0.1494 PTEN Zornitza Stark reviewed gene: PTEN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cowden syndrome 1, MIM# 158350, Macrocephaly/autism syndrome, MIM# 605309; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1494 PTF1A Zornitza Stark Marked gene: PTF1A as ready
Genomic newborn screening: BabyScreen+ v0.1494 PTF1A Zornitza Stark Gene: ptf1a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1494 PTF1A Zornitza Stark Tag treatable tag was added to gene: PTF1A.
Tag gastrointestinal tag was added to gene: PTF1A.
Genomic newborn screening: BabyScreen+ v0.1494 PTF1A Zornitza Stark reviewed gene: PTF1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pancreatic agenesis 2, MIM# 615935, Pancreatic and cerebellar agenesis, MIM# 609069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1494 PTH1R Zornitza Stark Marked gene: PTH1R as ready
Genomic newborn screening: BabyScreen+ v0.1494 PTH1R Zornitza Stark Gene: pth1r has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1494 PTH1R Zornitza Stark Phenotypes for gene: PTH1R were changed from Metaphyseal chondrodysplasia to Failure of tooth eruption, primary MIM#125350; Eiken syndrome MIM#600002; Metaphyseal chondrodysplasia, Murk Jansen type MIM#156400; Chondrodysplasia, Blomstrand type MIM#215045
Genomic newborn screening: BabyScreen+ v0.1493 PTH1R Zornitza Stark Mode of inheritance for gene: PTH1R was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1492 PTH1R Zornitza Stark Classified gene: PTH1R as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1492 PTH1R Zornitza Stark Gene: pth1r has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1491 PTH1R Zornitza Stark reviewed gene: PTH1R: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Failure of tooth eruption, primary MIM#125350, Eiken syndrome MIM#600002, Metaphyseal chondrodysplasia, Murk Jansen type MIM#156400, Chondrodysplasia, Blomstrand type MIM#215045; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1491 PTPRC Zornitza Stark Marked gene: PTPRC as ready
Genomic newborn screening: BabyScreen+ v0.1491 PTPRC Zornitza Stark Gene: ptprc has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1491 PTPRC Zornitza Stark Tag treatable tag was added to gene: PTPRC.
Tag immunological tag was added to gene: PTPRC.
Genomic newborn screening: BabyScreen+ v0.1491 PTPRC Zornitza Stark reviewed gene: PTPRC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 608971; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1491 PYGL Zornitza Stark Marked gene: PYGL as ready
Genomic newborn screening: BabyScreen+ v0.1491 PYGL Zornitza Stark Gene: pygl has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1491 PYGL Zornitza Stark Phenotypes for gene: PYGL were changed from Glycogen storage disease VI to Glycogen storage disease VI, MIM# 232700
Genomic newborn screening: BabyScreen+ v0.1490 PYGL Zornitza Stark Tag treatable tag was added to gene: PYGL.
Tag metabolic tag was added to gene: PYGL.
Genomic newborn screening: BabyScreen+ v0.1490 PYGL Zornitza Stark reviewed gene: PYGL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease VI, MIM# 232700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1490 SPTB Seb Lunke changed review comment from: Established gene-disease association.

Childhood onset, multi-system disorder

Treatment: no specific treatment available (?Are these treatable by HSCT?)

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

Childhood onset, haematological disorder. Elliptocytosis, aneamia in some cases

Treatment: no specific treatment available (?Are these treatable by HSCT?)

Non-genetic confirmatory test: not assessed
Genomic newborn screening: BabyScreen+ v0.1490 SPTB Seb Lunke Phenotypes for gene: SPTB were changed from Spherocytosis to Anaemia, neonatal haemolytic, fatal or near-fatal MIM# 617948
Genomic newborn screening: BabyScreen+ v0.1489 SPTB Seb Lunke Classified gene: SPTB as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1489 SPTB Seb Lunke Gene: sptb has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1488 SPTB Seb Lunke Tag for review tag was added to gene: SPTB.
Genomic newborn screening: BabyScreen+ v0.1488 SPTB Seb Lunke reviewed gene: SPTB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Anaemia, neonatal haemolytic, fatal or near-fatal MIM# 617948; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1488 SPTA1 Seb Lunke Marked gene: SPTA1 as ready
Genomic newborn screening: BabyScreen+ v0.1488 SPTA1 Seb Lunke Gene: spta1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1488 SPTA1 Seb Lunke Phenotypes for gene: SPTA1 were changed from Elliptocytosis to Elliptocytosis-2 MIM# 130600; Pyropoikilocytosis MIM# 266140; Spherocytosis, type 3 MIM# 270970
Genomic newborn screening: BabyScreen+ v0.1487 SPTA1 Seb Lunke Mode of inheritance for gene: SPTA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1486 SPTA1 Seb Lunke Classified gene: SPTA1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1486 SPTA1 Seb Lunke Gene: spta1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1485 SPTA1 Seb Lunke reviewed gene: SPTA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Elliptocytosis-2 MIM# 130600, Pyropoikilocytosis MIM# 266140, Spherocytosis, type 3 MIM# 270970; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1485 PYGM Zornitza Stark Marked gene: PYGM as ready
Genomic newborn screening: BabyScreen+ v0.1485 PYGM Zornitza Stark Gene: pygm has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1485 PYGM Zornitza Stark Phenotypes for gene: PYGM were changed from McCardle disease MIM# 608455 to McArdle disease, MIM# 232600; Glycogen storage disease, autosomal dominant
Genomic newborn screening: BabyScreen+ v0.1484 PYGM Zornitza Stark Mode of inheritance for gene: PYGM was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1483 PYGM Zornitza Stark Classified gene: PYGM as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1483 PYGM Zornitza Stark Gene: pygm has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1482 PYGM Zornitza Stark reviewed gene: PYGM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: McArdle disease, MIM# 232600, Glycogen storage disease, autosomal dominant; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1482 RASA1 Zornitza Stark Marked gene: RASA1 as ready
Genomic newborn screening: BabyScreen+ v0.1482 RASA1 Zornitza Stark Gene: rasa1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1482 RASA1 Zornitza Stark Phenotypes for gene: RASA1 were changed from Capillary malformation-arteriovenous malformation to Capillary malformation-arteriovenous malformation 1, MIM#608354
Genomic newborn screening: BabyScreen+ v0.1481 RASA1 Zornitza Stark Classified gene: RASA1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1481 RASA1 Zornitza Stark Gene: rasa1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1480 RASA1 Zornitza Stark reviewed gene: RASA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Capillary malformation-arteriovenous malformation 1, MIM#608354; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1480 RB1 Zornitza Stark Tag for review tag was added to gene: RB1.
Genomic newborn screening: BabyScreen+ v0.1480 RB1 Zornitza Stark Marked gene: RB1 as ready
Genomic newborn screening: BabyScreen+ v0.1480 RB1 Zornitza Stark Gene: rb1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1480 RB1 Zornitza Stark Phenotypes for gene: RB1 were changed from Retinoblastoma to Retinoblastoma, MIM# 180200
Genomic newborn screening: BabyScreen+ v0.1479 RB1 Zornitza Stark Tag cancer tag was added to gene: RB1.
Tag treatable tag was added to gene: RB1.
Genomic newborn screening: BabyScreen+ v0.1479 RB1 Zornitza Stark reviewed gene: RB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinoblastoma, MIM# 180200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1479 RAPSN Zornitza Stark Marked gene: RAPSN as ready
Genomic newborn screening: BabyScreen+ v0.1479 RAPSN Zornitza Stark Gene: rapsn has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1479 RAPSN Zornitza Stark Phenotypes for gene: RAPSN were changed from Congenital myasthenic syndrome, MIM#616326 to Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (MIM#616326)
Genomic newborn screening: BabyScreen+ v0.1478 RAPSN Zornitza Stark Tag treatable tag was added to gene: RAPSN.
Tag neurological tag was added to gene: RAPSN.
Genomic newborn screening: BabyScreen+ v0.1478 RAPSN Zornitza Stark reviewed gene: RAPSN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (MIM#616326); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1478 RAG1 Zornitza Stark Marked gene: RAG1 as ready
Genomic newborn screening: BabyScreen+ v0.1478 RAG1 Zornitza Stark Gene: rag1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1478 RAG1 Zornitza Stark Phenotypes for gene: RAG1 were changed from Omenn syndrome, MIM#603554 to Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity MIM# 609889; Combined cellular and humoral immune defects with granulomas MIM# 233650; Omenn syndrome MIM# 603554; Severe combined immunodeficiency, B cell-negative MIM# 601457
Genomic newborn screening: BabyScreen+ v0.1477 RAG1 Zornitza Stark Tag treatable tag was added to gene: RAG1.
Tag immunological tag was added to gene: RAG1.
Genomic newborn screening: BabyScreen+ v0.1477 RAG1 Zornitza Stark reviewed gene: RAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity MIM# 609889, Combined cellular and humoral immune defects with granulomas MIM# 233650, Omenn syndrome MIM# 603554, Severe combined immunodeficiency, B cell-negative MIM# 601457; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1477 RAG2 Zornitza Stark Marked gene: RAG2 as ready
Genomic newborn screening: BabyScreen+ v0.1477 RAG2 Zornitza Stark Gene: rag2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1477 RAG2 Zornitza Stark Phenotypes for gene: RAG2 were changed from Omenn syndrome, MIM#603554 to Omenn syndrome MIM# 603554; Severe combined immunodeficiency, B cell-negative MIM# 601457; Combined cellular and humoral immune defects with granulomas MIM# 233650
Genomic newborn screening: BabyScreen+ v0.1476 RAG2 Zornitza Stark Tag treatable tag was added to gene: RAG2.
Tag immunological tag was added to gene: RAG2.
Genomic newborn screening: BabyScreen+ v0.1476 RAG2 Zornitza Stark reviewed gene: RAG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Omenn syndrome MIM# 603554, Severe combined immunodeficiency, B cell-negative MIM# 601457, Combined cellular and humoral immune defects with granulomas MIM# 233650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1476 RAB7A Zornitza Stark Marked gene: RAB7A as ready
Genomic newborn screening: BabyScreen+ v0.1476 RAB7A Zornitza Stark Gene: rab7a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1476 RAB7A Zornitza Stark Phenotypes for gene: RAB7A were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, type 2B, MIM# 600882
Genomic newborn screening: BabyScreen+ v0.1475 RAB7A Zornitza Stark Classified gene: RAB7A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1475 RAB7A Zornitza Stark Gene: rab7a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1474 RAB7A Zornitza Stark reviewed gene: RAB7A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 2B, MIM# 600882; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1474 RAB3GAP2 Zornitza Stark Marked gene: RAB3GAP2 as ready
Genomic newborn screening: BabyScreen+ v0.1474 RAB3GAP2 Zornitza Stark Gene: rab3gap2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1474 RAB3GAP2 Zornitza Stark Classified gene: RAB3GAP2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1474 RAB3GAP2 Zornitza Stark Gene: rab3gap2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1473 RAB3GAP2 Zornitza Stark reviewed gene: RAB3GAP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Warburg micro syndrome 2, MIM# 614225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1473 RAB3GAP1 Zornitza Stark Marked gene: RAB3GAP1 as ready
Genomic newborn screening: BabyScreen+ v0.1473 RAB3GAP1 Zornitza Stark Gene: rab3gap1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1473 RAB3GAP1 Zornitza Stark Phenotypes for gene: RAB3GAP1 were changed from Warburg micro syndrome to Warburg micro syndrome 1, MIM# 600118 Martsolf syndrome 2, MIM# 619420
Genomic newborn screening: BabyScreen+ v0.1472 RAB3GAP1 Zornitza Stark Classified gene: RAB3GAP1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1472 RAB3GAP1 Zornitza Stark Gene: rab3gap1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1471 RAB3GAP1 Zornitza Stark reviewed gene: RAB3GAP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Warburg micro syndrome 1, MIM# 600118 Martsolf syndrome 2, MIM# 619420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1471 RAB27A Zornitza Stark Marked gene: RAB27A as ready
Genomic newborn screening: BabyScreen+ v0.1471 RAB27A Zornitza Stark Gene: rab27a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1471 RAB27A Zornitza Stark Publications for gene: RAB27A were set to
Genomic newborn screening: BabyScreen+ v0.1470 RAB27A Zornitza Stark Tag for review tag was added to gene: RAB27A.
Tag immunological tag was added to gene: RAB27A.
Genomic newborn screening: BabyScreen+ v0.1470 RAB27A Zornitza Stark reviewed gene: RAB27A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32374962, 32107531; Phenotypes: Griscelli syndrome, type 2, MIM# 607624; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.562 PTPN4 Zornitza Stark Phenotypes for gene: PTPN4 were changed from Intellectual disability; developmental delay to Neurodevelopmental disorder, MONDO:0700092, PTPN4-related
Intellectual disability syndromic and non-syndromic v0.5132 PTPN4 Zornitza Stark Phenotypes for gene: PTPN4 were changed from Intellectual disability; developmental delay to Neurodevelopmental disorder, MONDO:0700092, PTPN4-related
Genomic newborn screening: BabyScreen+ v0.1470 ORAI1 Zornitza Stark Marked gene: ORAI1 as ready
Genomic newborn screening: BabyScreen+ v0.1470 ORAI1 Zornitza Stark Gene: orai1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1470 ORAI1 Zornitza Stark Classified gene: ORAI1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1470 ORAI1 Zornitza Stark Gene: orai1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1469 ORAI1 Zornitza Stark Tag treatable tag was added to gene: ORAI1.
Tag immunological tag was added to gene: ORAI1.
Genomic newborn screening: BabyScreen+ v0.1469 ORAI1 Zornitza Stark gene: ORAI1 was added
gene: ORAI1 was added to gNBS. Sources: Expert Review
Mode of inheritance for gene: ORAI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORAI1 were set to Immunodeficiency 9, MIM# 612782
Review for gene: ORAI1 was set to GREEN
Added comment: PMID 31448844 (comprehensive review, summarises all published cases, references functional evidence):
- Dominant ORAI1 missense variants via a GOF mechanism cause a slowly progressive myopathy (tubular aggregate myopathy/TAM)
- Recessive ORAI1 variants via a LOF mechanism cause a combined immunodeficiency (recurrent and chronic infections, autoimmunity, ectodermal dysplasia, non-progressive myopathy)

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

Treatment: BMT.

Non-genetic confirmatory testing: T cell proliferation assay
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1468 RAI1 Zornitza Stark Marked gene: RAI1 as ready
Genomic newborn screening: BabyScreen+ v0.1468 RAI1 Zornitza Stark Gene: rai1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1468 RAI1 Zornitza Stark Phenotypes for gene: RAI1 were changed from Smith-Magenis syndrome; Potocki-Lupski syndrome to Smith-Magenis syndrome (MIM#182290)
Genomic newborn screening: BabyScreen+ v0.1467 RAI1 Zornitza Stark Classified gene: RAI1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1467 RAI1 Zornitza Stark Gene: rai1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1466 RAI1 Zornitza Stark reviewed gene: RAI1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Smith-Magenis syndrome (MIM#182290); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1466 RBM8A Zornitza Stark Marked gene: RBM8A as ready
Genomic newborn screening: BabyScreen+ v0.1466 RBM8A Zornitza Stark Gene: rbm8a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1466 RBM8A Zornitza Stark Phenotypes for gene: RBM8A were changed from Thrombocytopaenia-absent radius syndrome to Thrombocytopenia-absent radius syndrome, MIM# 274000
Genomic newborn screening: BabyScreen+ v0.1465 RBM8A Zornitza Stark Classified gene: RBM8A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1465 RBM8A Zornitza Stark Gene: rbm8a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1464 RBM8A Zornitza Stark reviewed gene: RBM8A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombocytopenia-absent radius syndrome, MIM# 274000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1464 RAB23 Zornitza Stark Marked gene: RAB23 as ready
Genomic newborn screening: BabyScreen+ v0.1464 RAB23 Zornitza Stark Gene: rab23 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1464 RAB23 Zornitza Stark Phenotypes for gene: RAB23 were changed from Carpenter syndrome to Carpenter syndrome (MIM#201000)
Genomic newborn screening: BabyScreen+ v0.1463 RAB23 Zornitza Stark Classified gene: RAB23 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1463 RAB23 Zornitza Stark Gene: rab23 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1462 RAB23 Zornitza Stark reviewed gene: RAB23: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Carpenter syndrome (MIM#201000); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1462 RAF1 Zornitza Stark Marked gene: RAF1 as ready
Genomic newborn screening: BabyScreen+ v0.1462 RAF1 Zornitza Stark Gene: raf1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1462 RAF1 Zornitza Stark Phenotypes for gene: RAF1 were changed from Noonan syndrome to Noonan syndrome 5, MIM# 611553
Genomic newborn screening: BabyScreen+ v0.1461 RAF1 Zornitza Stark Classified gene: RAF1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1461 RAF1 Zornitza Stark Gene: raf1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1460 RAF1 Zornitza Stark reviewed gene: RAF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome 5, MIM# 611553; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v1.178 BUB1B Zornitza Stark Publications for gene: BUB1B were set to 18548531
Brain Calcification v1.22 CLDN5 Zornitza Stark Phenotypes for gene: CLDN5 were changed from alternating hemiplegia, MONDO:0016210, CLDN5-related to Syndromic disorder, MONDO:0002254, CLDN5-related
Brain Calcification v1.21 CLDN5 Zornitza Stark Publications for gene: CLDN5 were set to 35714222
Brain Calcification v1.20 CLDN5 Zornitza Stark Mode of pathogenicity for gene: CLDN5 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None
Brain Calcification v1.19 CLDN5 Zornitza Stark Classified gene: CLDN5 as Green List (high evidence)
Brain Calcification v1.19 CLDN5 Zornitza Stark Gene: cldn5 has been classified as Green List (High Evidence).
Mendeliome v1.561 CLDN5 Zornitza Stark Phenotypes for gene: CLDN5 were changed from alternating hemiplegia, MONDO:0016210, CLDN5-related to Syndromic disorder, MONDO:0002254, CLDN5-related
Mendeliome v1.560 CLDN5 Zornitza Stark Publications for gene: CLDN5 were set to 35714222
Mendeliome v1.559 CLDN5 Zornitza Stark Mode of pathogenicity for gene: CLDN5 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None
Mendeliome v1.558 CLDN5 Zornitza Stark Classified gene: CLDN5 as Green List (high evidence)
Mendeliome v1.558 CLDN5 Zornitza Stark Gene: cldn5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1821 CLDN5 Zornitza Stark Marked gene: CLDN5 as ready
Genetic Epilepsy v0.1821 CLDN5 Zornitza Stark Gene: cldn5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5131 CLDN5 Zornitza Stark Marked gene: CLDN5 as ready
Intellectual disability syndromic and non-syndromic v0.5131 CLDN5 Zornitza Stark Gene: cldn5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5131 CLDN5 Zornitza Stark Phenotypes for gene: CLDN5 were changed from seizures; developmental delay; microcephaly; brain calcifications to Syndromic disorder, MONDO:0002254, CLDN5-related
Genetic Epilepsy v0.1821 CLDN5 Zornitza Stark Phenotypes for gene: CLDN5 were changed from seizures; developmental delay; microcephaly; brain calcifications to Syndromic disorder, MONDO:0002254, CLDN5-related
Intellectual disability syndromic and non-syndromic v0.5130 CLDN5 Zornitza Stark Classified gene: CLDN5 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5130 CLDN5 Zornitza Stark Gene: cldn5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1820 CLDN5 Zornitza Stark Mode of pathogenicity for gene: CLDN5 was changed from None to None
Intellectual disability syndromic and non-syndromic v0.5129 CLDN5 Zornitza Stark reviewed gene: CLDN5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Syndromic disorder, MONDO:0002254, CLDN5-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1819 CLDN5 Zornitza Stark Mode of pathogenicity for gene: CLDN5 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None
Genetic Epilepsy v0.1818 CLDN5 Zornitza Stark Classified gene: CLDN5 as Green List (high evidence)
Genetic Epilepsy v0.1818 CLDN5 Zornitza Stark Gene: cldn5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1817 CLDN5 Zornitza Stark reviewed gene: CLDN5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Syndromic disorder, MONDO:0002254, CLDN5-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v1.177 CLDN5 Zornitza Stark Marked gene: CLDN5 as ready
Microcephaly v1.177 CLDN5 Zornitza Stark Added comment: Comment when marking as ready: Reported variants are missense, but zebrafish model supports loss of function mechanism.
Microcephaly v1.177 CLDN5 Zornitza Stark Gene: cldn5 has been classified as Green List (High Evidence).
Microcephaly v1.177 CLDN5 Zornitza Stark Marked gene: CLDN5 as ready
Microcephaly v1.177 CLDN5 Zornitza Stark Gene: cldn5 has been classified as Green List (High Evidence).
Microcephaly v1.177 CLDN5 Zornitza Stark Phenotypes for gene: CLDN5 were changed from seizures; developmental delay; microcephaly; brain calcifications to Syndromic disorder, MONDO:0002254, CLDN5-related
Microcephaly v1.176 CLDN5 Zornitza Stark Mode of pathogenicity for gene: CLDN5 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None
Microcephaly v1.175 CLDN5 Zornitza Stark Classified gene: CLDN5 as Green List (high evidence)
Microcephaly v1.175 CLDN5 Zornitza Stark Gene: cldn5 has been classified as Green List (High Evidence).
Microcephaly v1.174 CLDN5 Zornitza Stark reviewed gene: CLDN5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Syndromic disorder, MONDO:0002254, CLDN5-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v1.174 SETD2 Zornitza Stark Marked gene: SETD2 as ready
Microcephaly v1.174 SETD2 Zornitza Stark Gene: setd2 has been classified as Green List (High Evidence).
Microcephaly v1.174 SETD2 Zornitza Stark Classified gene: SETD2 as Green List (high evidence)
Microcephaly v1.174 SETD2 Zornitza Stark Gene: setd2 has been classified as Green List (High Evidence).
Microcephaly v1.173 SETD2 Zornitza Stark gene: SETD2 was added
gene: SETD2 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: SETD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SETD2 were set to 32710489
Phenotypes for gene: SETD2 were set to Rabin-Pappas syndrome,MIM# 620155
Review for gene: SETD2 was set to GREEN
Added comment: PMID 32710489: 12 unrelated patients, ranging from 1 month to 12 years of age, with a multisystemic neurodevelopmental disorder associated with a specific de novo heterozygous mutation in the SETD2 gene (R1740W).

Key clinical features: severely impaired global development apparent from infancy, feeding difficulties with failure to thrive, small head circumference, and dysmorphic facial features. Affected individuals have impaired intellectual development and hypotonia; they do not achieve walking or meaningful speech. Other neurologic findings may include seizures, hearing loss, ophthalmologic defects, and brain imaging abnormalities. There is variable involvement of other organ systems, including skeletal, genitourinary, cardiac, and possibly endocrine.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5129 SETD2 Zornitza Stark Phenotypes for gene: SETD2 were changed from Luscan-Lumish syndrome, MIM#616831 to Luscan-Lumish syndrome, MIM#616831; Rabin-Pappas syndrome,MIM# 620155; Intellectual developmental disorder, autosomal dominant 70, MIM# 620157
Intellectual disability syndromic and non-syndromic v0.5128 SETD2 Zornitza Stark Publications for gene: SETD2 were set to 29681085
Intellectual disability syndromic and non-syndromic v0.5127 SETD2 Zornitza Stark edited their review of gene: SETD2: Added comment: PMID 32710489: 12 unrelated patients, ranging from 1 month to 12 years of age, with a multisystemic neurodevelopmental disorder associated with a specific de novo heterozygous mutation in the SETD2 gene (R1740W).

Key clinical features: severely impaired global development apparent from infancy, feeding difficulties with failure to thrive, small head circumference, and dysmorphic facial features. Affected individuals have impaired intellectual development and hypotonia; they do not achieve walking or meaningful speech. Other neurologic findings may include seizures, hearing loss, ophthalmologic defects, and brain imaging abnormalities. There is variable involvement of other organ systems, including skeletal, genitourinary, cardiac, and possibly endocrine.

Further 3 unrelated patients identified with mild to moderately impaired intellectual development associated with a specific de novo heterozygous mutation in the SETD2 gene (R1740Q).

These are distinct clinically from Luscan-Lumish syndrome, which is characterised by overgrowth.; Changed publications: 29681085, 32710489; Changed phenotypes: Luscan-Lumish syndrome, MIM#616831, Rabin-Pappas syndrome,MIM# 620155, Intellectual developmental disorder, autosomal dominant 70, MIM# 620157
Mendeliome v1.557 SETD2 Zornitza Stark Phenotypes for gene: SETD2 were changed from Luscan-Lumish syndrome, MIM#616831; Luscan-Lumish syndrome, MIM#616831; Rabin-Pappas syndrome,MIM# 620155; Intellectual developmental disorder, autosomal dominant 70, MIM# 620157 to Luscan-Lumish syndrome, MIM#616831; Rabin-Pappas syndrome,MIM# 620155; Intellectual developmental disorder, autosomal dominant 70, MIM# 620157
Mendeliome v1.556 SETD2 Zornitza Stark Phenotypes for gene: SETD2 were changed from Luscan-Lumish syndrome, MIM#616831 to Luscan-Lumish syndrome, MIM#616831; Luscan-Lumish syndrome, MIM#616831; Rabin-Pappas syndrome,MIM# 620155; Intellectual developmental disorder, autosomal dominant 70, MIM# 620157
Mendeliome v1.555 SETD2 Zornitza Stark Publications for gene: SETD2 were set to 29681085
Mendeliome v1.554 SETD2 Zornitza Stark edited their review of gene: SETD2: Added comment: PMID 32710489: 12 unrelated patients, ranging from 1 month to 12 years of age, with a multisystemic neurodevelopmental disorder associated with a specific de novo heterozygous mutation in the SETD2 gene (R1740W).

Key clinical features: severely impaired global development apparent from infancy, feeding difficulties with failure to thrive, small head circumference, and dysmorphic facial features. Affected individuals have impaired intellectual development and hypotonia; they do not achieve walking or meaningful speech. Other neurologic findings may include seizures, hearing loss, ophthalmologic defects, and brain imaging abnormalities. There is variable involvement of other organ systems, including skeletal, genitourinary, cardiac, and possibly endocrine.

Further 3 unrelated patients identified with mild to moderately impaired intellectual development associated with a specific de novo heterozygous mutation in the SETD2 gene (R1740Q).

These are distinct clinically from Luscan-Lumish syndrome, which is characterised by overgrowth.; Changed publications: 29681085, 32710489; Changed phenotypes: Luscan-Lumish syndrome, MIM#616831, Rabin-Pappas syndrome,MIM# 620155, Intellectual developmental disorder, autosomal dominant 70, MIM# 620157
Genomic newborn screening: BabyScreen+ v0.1460 RDX Zornitza Stark Marked gene: RDX as ready
Genomic newborn screening: BabyScreen+ v0.1460 RDX Zornitza Stark Gene: rdx has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1460 RDX Zornitza Stark edited their review of gene: RDX: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.1460 RDX Zornitza Stark reviewed gene: RDX: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 24, MIM# 611022; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1460 RECQL4 Zornitza Stark Marked gene: RECQL4 as ready
Genomic newborn screening: BabyScreen+ v0.1460 RECQL4 Zornitza Stark Gene: recql4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1460 RECQL4 Zornitza Stark Phenotypes for gene: RECQL4 were changed from Rothmund-Thomson syndrome; Rapadilino syndrome; Baller-Gerold syndrome to Rothmund-Thomson syndrome, type 2, MIM# 268400
Genomic newborn screening: BabyScreen+ v0.1459 RECQL4 Zornitza Stark Classified gene: RECQL4 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1459 RECQL4 Zornitza Stark Gene: recql4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1458 RECQL4 Zornitza Stark reviewed gene: RECQL4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Rothmund-Thomson syndrome, type 2, MIM# 268400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1458 RET Zornitza Stark Tag for review tag was added to gene: RET.
Tag cancer tag was added to gene: RET.
Tag treatable tag was added to gene: RET.
Genomic newborn screening: BabyScreen+ v0.1458 RET Zornitza Stark reviewed gene: RET: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple endocrine neoplasia IIA, MIM# 171400, Multiple endocrine neoplasia IIB, MIM# 162300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1458 REN Zornitza Stark Marked gene: REN as ready
Genomic newborn screening: BabyScreen+ v0.1458 REN Zornitza Stark Gene: ren has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1458 REN Zornitza Stark Phenotypes for gene: REN were changed from Renal tubular dysgenesis to Renal tubular dysgenesis, MIM# 267430
Genomic newborn screening: BabyScreen+ v0.1457 REN Zornitza Stark Mode of inheritance for gene: REN was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1456 REN Zornitza Stark changed review comment from: Established gene-disease association.

Presents as fetal anuria leading to perinatal death.

No specific treatment.; to: Established gene-disease association.

Bi-allelic LOF variants cause renal tubular dysgenesis, which presents as fetal anuria leading to perinatal death.. Mono-allelic variants, likely through a different mechanism (mostly missense) cause tubulointerstitial disease. More severe phenotype associated with variants that are located in the protein leader peptide and affecting its co-translational insertion in the endoplasmic reticulum (ER).

No specific treatment for either.
Genomic newborn screening: BabyScreen+ v0.1456 REN Zornitza Stark Classified gene: REN as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1456 REN Zornitza Stark Gene: ren has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1455 REN Zornitza Stark reviewed gene: REN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal tubular dysgenesis, MIM# 267430; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1455 RETREG1 Zornitza Stark Marked gene: RETREG1 as ready
Genomic newborn screening: BabyScreen+ v0.1455 RETREG1 Zornitza Stark Gene: retreg1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1455 RETREG1 Zornitza Stark Phenotypes for gene: RETREG1 were changed from MONDO:0013142; Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115 to Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115
Genomic newborn screening: BabyScreen+ v0.1454 RETREG1 Zornitza Stark Classified gene: RETREG1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1454 RETREG1 Zornitza Stark Gene: retreg1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1453 RETREG1 Zornitza Stark reviewed gene: RETREG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1453 RFWD3 Zornitza Stark Marked gene: RFWD3 as ready
Genomic newborn screening: BabyScreen+ v0.1453 RFWD3 Zornitza Stark Gene: rfwd3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1453 RFWD3 Zornitza Stark Classified gene: RFWD3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1453 RFWD3 Zornitza Stark Gene: rfwd3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1452 RFWD3 Zornitza Stark reviewed gene: RFWD3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group W, MIM# 617784; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1452 CIITA Zornitza Stark Marked gene: CIITA as ready
Genomic newborn screening: BabyScreen+ v0.1452 CIITA Zornitza Stark Gene: ciita has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1452 CIITA Zornitza Stark Classified gene: CIITA as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1452 CIITA Zornitza Stark Gene: ciita has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1451 CIITA Zornitza Stark Tag treatable tag was added to gene: CIITA.
Tag immunological tag was added to gene: CIITA.
Genomic newborn screening: BabyScreen+ v0.1451 CIITA Zornitza Stark gene: CIITA was added
gene: CIITA was added to gNBS. Sources: Expert Review
Mode of inheritance for gene: CIITA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CIITA were set to Bare Lymphocyte Syndrome, type II, complementation group A MIM# 209920
Review for gene: CIITA was set to GREEN
Added comment: 13 individuals of 11 unrelated families; two mouse models. Homozygous and compound heterozygous variants were identified in these individuals (missense, nonsense and splicing) resulting in premature stop codon and truncated protein, or inactive protein. Affected individuals typically present in infancy with severe (recurrent) respiratory and gastrointestinal tract infections and defective MHC II expression in PBMCs

Treatment: BMT.
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1450 RFXAP Zornitza Stark Marked gene: RFXAP as ready
Genomic newborn screening: BabyScreen+ v0.1450 RFXAP Zornitza Stark Gene: rfxap has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1450 RFXAP Zornitza Stark Classified gene: RFXAP as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1450 RFXAP Zornitza Stark Gene: rfxap has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1449 RFXAP Zornitza Stark Tag treatable tag was added to gene: RFXAP.
Tag immunological tag was added to gene: RFXAP.
Genomic newborn screening: BabyScreen+ v0.1449 RFXAP Zornitza Stark gene: RFXAP was added
gene: RFXAP was added to gNBS. Sources: Expert Review
Mode of inheritance for gene: RFXAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RFXAP were set to Bare lymphocyte syndrome, type II, complementation group D MIM# 209920
Review for gene: RFXAP was set to GREEN
Added comment: 9 unique RFXAP variants in 12 unrelated individuals have been reported; one mouse model

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

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

Treatment: BMT.
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1448 RFX5 Zornitza Stark Marked gene: RFX5 as ready
Genomic newborn screening: BabyScreen+ v0.1448 RFX5 Zornitza Stark Gene: rfx5 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1448 RFX5 Zornitza Stark Classified gene: RFX5 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1448 RFX5 Zornitza Stark Gene: rfx5 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1447 RFX5 Zornitza Stark Tag treatable tag was added to gene: RFX5.
Tag immunological tag was added to gene: RFX5.
Genomic newborn screening: BabyScreen+ v0.1447 RFX5 Zornitza Stark gene: RFX5 was added
gene: RFX5 was added to gNBS. Sources: Expert Review
Mode of inheritance for gene: RFX5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RFX5 were set to Bare lymphocyte syndrome, type II, complementation group C MIM# 209920; Bare lymphocyte syndrome, type II, complementation group E MIM# 209920
Review for gene: RFX5 was set to GREEN
Added comment: Bare lymphocyte syndrome, type II, complementation group C

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

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

Presentation is typically in infancy.

Treatment: BMT.
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1446 RFXANK Zornitza Stark Marked gene: RFXANK as ready
Genomic newborn screening: BabyScreen+ v0.1446 RFXANK Zornitza Stark Gene: rfxank has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1446 RFXANK Zornitza Stark Tag treatable tag was added to gene: RFXANK.
Tag immunological tag was added to gene: RFXANK.
Genomic newborn screening: BabyScreen+ v0.1446 RFXANK Zornitza Stark reviewed gene: RFXANK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: MHC class II deficiency, complementation group B MIM# 209920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1446 RMRP Zornitza Stark Marked gene: RMRP as ready
Genomic newborn screening: BabyScreen+ v0.1446 RMRP Zornitza Stark Gene: rmrp has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1446 RMRP Zornitza Stark Phenotypes for gene: RMRP were changed from Cartilage-hair hypoplasia to Cartilage-hair hypoplasia MIM#250250
Genomic newborn screening: BabyScreen+ v0.1445 RMRP Zornitza Stark Tag for review tag was added to gene: RMRP.
Tag treatable tag was added to gene: RMRP.
Tag immunological tag was added to gene: RMRP.
Genomic newborn screening: BabyScreen+ v0.1445 RMRP Zornitza Stark reviewed gene: RMRP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cartilage-hair hypoplasia MIM#250250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1445 RNASEH2A Zornitza Stark Marked gene: RNASEH2A as ready
Genomic newborn screening: BabyScreen+ v0.1445 RNASEH2A Zornitza Stark Gene: rnaseh2a has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1445 RNASEH2A Zornitza Stark Phenotypes for gene: RNASEH2A were changed from Aicardi-Goutieres syndrome to Aicardi-Goutieres syndrome 4, MIM# 610333
Genomic newborn screening: BabyScreen+ v0.1444 RNASEH2A Zornitza Stark Classified gene: RNASEH2A as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1444 RNASEH2A Zornitza Stark Gene: rnaseh2a has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1443 RNASEH2A Zornitza Stark reviewed gene: RNASEH2A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 4, MIM# 610333; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1443 RNASEH2B Zornitza Stark Marked gene: RNASEH2B as ready
Genomic newborn screening: BabyScreen+ v0.1443 RNASEH2B Zornitza Stark Gene: rnaseh2b has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1443 RNASEH2B Zornitza Stark Phenotypes for gene: RNASEH2B were changed from Aicardi-Goutieres syndrome to Aicardi-Goutieres syndrome 2, MIM# 610181
Genomic newborn screening: BabyScreen+ v0.1442 RNASEH2B Zornitza Stark Publications for gene: RNASEH2B were set to
Genomic newborn screening: BabyScreen+ v0.1441 RNASEH2B Zornitza Stark Tag for review tag was added to gene: RNASEH2B.
Tag neurological tag was added to gene: RNASEH2B.
Genomic newborn screening: BabyScreen+ v0.1441 RNASEH2B Zornitza Stark Classified gene: RNASEH2B as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1441 RNASEH2B Zornitza Stark Gene: rnaseh2b has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1440 RNASEH2B Zornitza Stark reviewed gene: RNASEH2B: Rating: AMBER; Mode of pathogenicity: None; Publications: 32877590; Phenotypes: Aicardi-Goutieres syndrome 2, MIM# 610181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1440 RNASEH2C Zornitza Stark Marked gene: RNASEH2C as ready
Genomic newborn screening: BabyScreen+ v0.1440 RNASEH2C Zornitza Stark Gene: rnaseh2c has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1440 RNASEH2C Zornitza Stark Phenotypes for gene: RNASEH2C were changed from Aicardi-Goutieres syndrome to Aicardi-Goutieres syndrome 3, MIM# 610329
Genomic newborn screening: BabyScreen+ v0.1439 RNASEH2C Zornitza Stark Publications for gene: RNASEH2C were set to
Genomic newborn screening: BabyScreen+ v0.1438 RNASEH2C Zornitza Stark Classified gene: RNASEH2C as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1438 RNASEH2C Zornitza Stark Gene: rnaseh2c has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1437 RNASEH2C Zornitza Stark Tag for review tag was added to gene: RNASEH2C.
Tag neurological tag was added to gene: RNASEH2C.
Genomic newborn screening: BabyScreen+ v0.1437 RNASEH2C Zornitza Stark reviewed gene: RNASEH2C: Rating: AMBER; Mode of pathogenicity: None; Publications: 32877590; Phenotypes: Aicardi-Goutieres syndrome 3, MIM# 610329; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1437 ROR2 Zornitza Stark Marked gene: ROR2 as ready
Genomic newborn screening: BabyScreen+ v0.1437 ROR2 Zornitza Stark Gene: ror2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1437 ROR2 Zornitza Stark Phenotypes for gene: ROR2 were changed from Robinow syndrome; Brachydactyly, type B1 to Robinow syndrome, autosomal recessive - MIM#268310
Genomic newborn screening: BabyScreen+ v0.1436 ROR2 Zornitza Stark Mode of inheritance for gene: ROR2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1435 ROR2 Zornitza Stark Classified gene: ROR2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1435 ROR2 Zornitza Stark Gene: ror2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1434 ROR2 Zornitza Stark reviewed gene: ROR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Robinow syndrome, autosomal recessive - MIM#268310; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1434 RPGR Zornitza Stark Marked gene: RPGR as ready
Genomic newborn screening: BabyScreen+ v0.1434 RPGR Zornitza Stark Gene: rpgr has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1434 RPGR Zornitza Stark Phenotypes for gene: RPGR were changed from Retinitis pigmentosa to Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, MIM# 300455
Genomic newborn screening: BabyScreen+ v0.1433 RPGR Zornitza Stark Classified gene: RPGR as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1433 RPGR Zornitza Stark Gene: rpgr has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1432 RPGR Zornitza Stark reviewed gene: RPGR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, MIM# 300455; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1432 RPGRIP1L Zornitza Stark Marked gene: RPGRIP1L as ready
Genomic newborn screening: BabyScreen+ v0.1432 RPGRIP1L Zornitza Stark Gene: rpgrip1l has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1432 RPGRIP1L Zornitza Stark Phenotypes for gene: RPGRIP1L were changed from Joubert syndrome; Meckel syndrome to Joubert syndrome 7, MIM# 611560; Meckel syndrome 5, MIM# 611561; COACH syndrome 3, MIM# 619113; Nephronophthisis
Genomic newborn screening: BabyScreen+ v0.1431 RPGRIP1L Zornitza Stark Classified gene: RPGRIP1L as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1431 RPGRIP1L Zornitza Stark Gene: rpgrip1l has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1430 RPGRIP1L Zornitza Stark reviewed gene: RPGRIP1L: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 7, MIM# 611560, Meckel syndrome 5, MIM# 611561, COACH syndrome 3, MIM# 619113, Nephronophthisis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1430 RPL11 Zornitza Stark Marked gene: RPL11 as ready
Genomic newborn screening: BabyScreen+ v0.1430 RPL11 Zornitza Stark Gene: rpl11 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1430 RPL11 Zornitza Stark Tag treatable tag was added to gene: RPL11.
Tag haematological tag was added to gene: RPL11.
Genomic newborn screening: BabyScreen+ v0.1430 RPL11 Zornitza Stark reviewed gene: RPL11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anemia 7, MIM# 612562; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1430 RPL15 Zornitza Stark Marked gene: RPL15 as ready
Genomic newborn screening: BabyScreen+ v0.1430 RPL15 Zornitza Stark Gene: rpl15 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1430 RPL15 Zornitza Stark Tag treatable tag was added to gene: RPL15.
Tag haematological tag was added to gene: RPL15.
Genomic newborn screening: BabyScreen+ v0.1430 RPL15 Zornitza Stark reviewed gene: RPL15: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anaemia 12, MIM# 615550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1430 RPL18 Zornitza Stark Marked gene: RPL18 as ready
Genomic newborn screening: BabyScreen+ v0.1430 RPL18 Zornitza Stark Gene: rpl18 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1430 RPL18 Zornitza Stark Classified gene: RPL18 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1430 RPL18 Zornitza Stark Gene: rpl18 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1429 RPL18 Zornitza Stark reviewed gene: RPL18: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anemia 18, MIM# 618310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1429 RPL26 Zornitza Stark Marked gene: RPL26 as ready
Genomic newborn screening: BabyScreen+ v0.1429 RPL26 Zornitza Stark Gene: rpl26 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1429 RPL26 Zornitza Stark Classified gene: RPL26 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1429 RPL26 Zornitza Stark Gene: rpl26 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1428 RPL26 Zornitza Stark reviewed gene: RPL26: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anemia 11, MIM# 614900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1428 RPL27 Zornitza Stark Marked gene: RPL27 as ready
Genomic newborn screening: BabyScreen+ v0.1428 RPL27 Zornitza Stark Gene: rpl27 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1428 RPL27 Zornitza Stark Classified gene: RPL27 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1428 RPL27 Zornitza Stark Gene: rpl27 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1427 RPL27 Zornitza Stark reviewed gene: RPL27: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anemia 16, MIM# 617408; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1427 RPL35 Zornitza Stark Marked gene: RPL35 as ready
Genomic newborn screening: BabyScreen+ v0.1427 RPL35 Zornitza Stark Gene: rpl35 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1427 RPL35 Zornitza Stark Classified gene: RPL35 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1427 RPL35 Zornitza Stark Gene: rpl35 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1426 RPL35 Zornitza Stark reviewed gene: RPL35: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anemia 19, MIM# 618312; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1426 RPL5 Zornitza Stark Tag treatable tag was added to gene: RPL5.
Tag haematological tag was added to gene: RPL5.
Genomic newborn screening: BabyScreen+ v0.1426 RPL5 Zornitza Stark Marked gene: RPL5 as ready
Genomic newborn screening: BabyScreen+ v0.1426 RPL5 Zornitza Stark Gene: rpl5 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1426 RPL5 Zornitza Stark reviewed gene: RPL5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anaemia 6, MIM# 612561; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v1.26 MBD4 Krithika Murali changed review comment from: Associated with AML, myelodysplastic syndrome, pancytopenia, polyposis. D/W Meg Wall - suitable for bone marrow failure gene list as Green gene.

PMID: 30049810 - 34 yo F initially presented with pancytopenia, subsequent diagnosis of AML with myelodysplasia-related changes was made on bone marrow examination

PMID:35381620 (reviewed by Dr Chern Lim): A 37-year-old man presented with symptomatic anaemia and pancytopenia, a diagnosis of myelodysplastic syndrome with ring sideroblasts and multilineage dysplasia (MDS-RS-MLD) was made on bone marrow biopsy, patient has a homozygous missense variant in the germline.

PMID:35460607: Biallelic loss-of-function germline variants in four families with five individuals with adenomatous colorectal polyposis, acute myeloid leukemia, and uveal melanoma. Presentation also included myelodysplastic syndrome in an individual which is associated with low blood counts.
Sources: Literature, Expert Review; to: Associated with AML, myelodysplastic syndrome, pancytopenia, polyposis. D/W Meg Wall - suitable for bone marrow failure gene list as Green gene.

PMID: 30049810 - 34 yo F initially presented with pancytopenia, subsequent diagnosis of AML with myelodysplasia-related changes was made on bone marrow examination

PMID:35381620 (reviewed by Dr Chern Lim): A 37-year-old man presented with symptomatic anaemia and pancytopenia, a diagnosis of myelodysplastic syndrome with ring sideroblasts and multilineage dysplasia (MDS-RS-MLD) was made on bone marrow biopsy, patient has a homozygous missense variant in the germline.

PMID:35460607: Biallelic loss-of-function germline variants in four families with five individuals with adenomatous colorectal polyposis, acute myeloid leukemia, and uveal melanoma. Presentation also included myelodysplastic syndrome in an individual.

Sources: Literature, Expert Review
Bone Marrow Failure v1.26 MBD4 Krithika Murali changed review comment from: Associated with AML, myelodysplastic syndrome, pancytopenia, polyposis. D/W Meg Wall - suitable for bone marrow failure gene list as Green gene.

PMID: 30049810 - 34 yo F initially presented with pancytopenia, subsequent diagnosis of AML with myelodysplasia-related changes was made on bone marrow examination

PMID:35381620 (reviewed by Dr Chern Lim): A 37-year-old man presented with symptomatic anaemia and pancytopenia, a diagnosis of myelodysplastic syndrome with ring sideroblasts and multilineage dysplasia (MDS-RS-MLD) was made on bone marrow biopsy, patient has a homozygous missense variant in the germline.

PMID:35460607: Biallelic loss-of-function germline variants in four families with five individuals with adenomatous colorectal polyposis, acute myeloid leukemia, and uveal melanoma. Presentation also included myelodysplastic syndrome in an individual which is associated with low blood counts.
Sources: Literature, Expert Review; to: Associated with AML, myelodysplastic syndrome, pancytopenia, polyposis. D/W Meg Wall - suitable for bone marrow failure gene list as Green gene.

PMID: 30049810 - 34 yo F initially presented with pancytopenia, subsequent diagnosis of AML with myelodysplasia-related changes was made on bone marrow examination

PMID:35381620 (reviewed by Dr Chern Lim): A 37-year-old man presented with symptomatic anaemia and pancytopenia, a diagnosis of myelodysplastic syndrome with ring sideroblasts and multilineage dysplasia (MDS-RS-MLD) was made on bone marrow biopsy, patient has a homozygous missense variant in the germline.

PMID:35460607: Biallelic loss-of-function germline variants in four families with five individuals with adenomatous colorectal polyposis, acute myeloid leukemia, and uveal melanoma. Presentation also included myelodysplastic syndrome in an individual which is associated with low blood counts.
Sources: Literature, Expert Review
Bone Marrow Failure v1.26 MBD4 Krithika Murali gene: MBD4 was added
gene: MBD4 was added to Bone Marrow Failure. Sources: Literature,Expert Review
Mode of inheritance for gene: MBD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MBD4 were set to PMID: 30049810; PMID:35460607; PMID:35381620
Phenotypes for gene: MBD4 were set to Tumor predisposition syndrome 2 - MIM#619975; Adenomatous colorectal polyposis, myelodysplastic syndrome, acute myeloid leukemia, and uveal melanoma
Review for gene: MBD4 was set to GREEN
Added comment: Associated with AML, myelodysplastic syndrome, pancytopenia, polyposis. D/W Meg Wall - suitable for bone marrow failure gene list as Green gene.

PMID: 30049810 - 34 yo F initially presented with pancytopenia, subsequent diagnosis of AML with myelodysplasia-related changes was made on bone marrow examination

PMID:35381620 (reviewed by Dr Chern Lim): A 37-year-old man presented with symptomatic anaemia and pancytopenia, a diagnosis of myelodysplastic syndrome with ring sideroblasts and multilineage dysplasia (MDS-RS-MLD) was made on bone marrow biopsy, patient has a homozygous missense variant in the germline.

PMID:35460607: Biallelic loss-of-function germline variants in four families with five individuals with adenomatous colorectal polyposis, acute myeloid leukemia, and uveal melanoma. Presentation also included myelodysplastic syndrome in an individual which is associated with low blood counts.
Sources: Literature, Expert Review
Genomic newborn screening: BabyScreen+ v0.1426 SLC35A2 Zornitza Stark Tag for review was removed from gene: SLC35A2.
Tag treatable tag was added to gene: SLC35A2.
Genomic newborn screening: BabyScreen+ v0.1426 SLC30A10 Zornitza Stark Tag for review was removed from gene: SLC30A10.
Genomic newborn screening: BabyScreen+ v0.1426 SLC25A13 Zornitza Stark Tag for review was removed from gene: SLC25A13.
Tag treatable tag was added to gene: SLC25A13.
Genomic newborn screening: BabyScreen+ v0.1426 KARS Zornitza Stark Classified gene: KARS as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1426 KARS Zornitza Stark Gene: kars has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1425 KARS Zornitza Stark Tag for review was removed from gene: KARS.
Genomic newborn screening: BabyScreen+ v0.1425 KARS Zornitza Stark changed review comment from: Variants in this gene are associated with either isolated or complex deafness with leukoencephalopathy.

The deafness tends to be congenital/pre-lingual. For review, likely meets criteria though some individuals will have leukoencephalopathy which does not have a specific treatment.; to: Variants in this gene are associated with either isolated or complex deafness with leukoencephalopathy.

The deafness tends to be congenital/pre-lingual. For review, likely meets criteria though some individuals will have leukoencephalopathy which does not have a specific treatment.

Reviewed: significant uncertainty regarding outcome, exclude.
Genomic newborn screening: BabyScreen+ v0.1425 KARS Zornitza Stark edited their review of gene: KARS: Changed rating: RED
Genomic newborn screening: BabyScreen+ v0.1425 GUSB Zornitza Stark Tag for review was removed from gene: GUSB.
Genomic newborn screening: BabyScreen+ v0.1425 RYR1 Zornitza Stark Tag for review was removed from gene: RYR1.
Genomic newborn screening: BabyScreen+ v0.1425 RYR1 Zornitza Stark changed review comment from: Well established association with susceptibility to malignant hyperthermia.

However, variants in this gene also cause a range of muscular phenotypes, for which there is no specific treatment.

Association with malignant hyperthermia is rated 'strongly actionable' in children by ClinGen.

MH susceptibility (MHS) is a pharmacogenetic skeletal muscle disorder where exposure to certain volatile anesthetics (i.e., desflurane, enflurane, halothane, isoflurane, sevoflurane), either alone or with a depolarizing muscle relaxant (succinylcholine), may trigger uncontrolled skeletal muscle hypermetabolism. An MH episode may begin with hypercapnia, rapidly rising end-tidal CO2, and tachycardia followed by hyperthermia. Additional symptoms may include acidosis, muscle rigidity, compartment syndrome, rhabdomyolysis and subsequent increased creatine kinase, hyperkalemia with a risk for cardiac arrhythmia or even arrest, and myoglobinuria with a risk for renal failure.

There is mounting evidence that some individuals with MHS may also develop episodes triggered by non-anesthetic conditions such as heat and/or exercise. These non-anesthetic-induced episodes, often called MH-like syndrome, may manifest as exertional rhabdomyolysis (ER).

Surgical management recommendations include preparation of the anesthesia workstation to reduce or prevent exposure to triggering anesthetics (e.g., remove vaporizers from machine and replace all disposables), vigilant monitoring for signs and symptoms of MH during perioperative period, and close observation and monitoring postoperatively.

MHS patients should carry identification of their susceptibility and inform those responsible for their care of their MH status.

Do not use the following MH triggering drugs for MHS patients: inhaled general anesthetics (desflurane, enflurane, halothane, isoflurane, sevoflurane) and depolarizing muscle relaxants (succinylcholine).

For review.; to: Well established association with susceptibility to malignant hyperthermia.

However, variants in this gene also cause a range of muscular phenotypes, for which there is no specific treatment.

Association with malignant hyperthermia is rated 'strongly actionable' in children by ClinGen.

MH susceptibility (MHS) is a pharmacogenetic skeletal muscle disorder where exposure to certain volatile anesthetics (i.e., desflurane, enflurane, halothane, isoflurane, sevoflurane), either alone or with a depolarizing muscle relaxant (succinylcholine), may trigger uncontrolled skeletal muscle hypermetabolism. An MH episode may begin with hypercapnia, rapidly rising end-tidal CO2, and tachycardia followed by hyperthermia. Additional symptoms may include acidosis, muscle rigidity, compartment syndrome, rhabdomyolysis and subsequent increased creatine kinase, hyperkalemia with a risk for cardiac arrhythmia or even arrest, and myoglobinuria with a risk for renal failure.

There is mounting evidence that some individuals with MHS may also develop episodes triggered by non-anesthetic conditions such as heat and/or exercise. These non-anesthetic-induced episodes, often called MH-like syndrome, may manifest as exertional rhabdomyolysis (ER).

Surgical management recommendations include preparation of the anesthesia workstation to reduce or prevent exposure to triggering anesthetics (e.g., remove vaporizers from machine and replace all disposables), vigilant monitoring for signs and symptoms of MH during perioperative period, and close observation and monitoring postoperatively.

MHS patients should carry identification of their susceptibility and inform those responsible for their care of their MH status.

Do not use the following MH triggering drugs for MHS patients: inhaled general anesthetics (desflurane, enflurane, halothane, isoflurane, sevoflurane) and depolarizing muscle relaxants (succinylcholine).
Genomic newborn screening: BabyScreen+ v0.1425 CACNA1S Zornitza Stark Tag for review was removed from gene: CACNA1S.
Genomic newborn screening: BabyScreen+ v0.1425 ADA2 Zornitza Stark Tag for review was removed from gene: ADA2.
Tag treatable tag was added to gene: ADA2.
Tag immunological tag was added to gene: ADA2.
Genomic newborn screening: BabyScreen+ v0.1425 DMD Zornitza Stark changed review comment from: Well established gene-disease association. Milder phenotypes such as BMD and DCM are also associated with variants in this gene. Females typically at risk for cardiac disease only.

Onset in early childhood.

Treatment: Eteplirsen, Casimersen and Golodirsen for exon skipping 51, 45 and 53, respectively. Vitolarsen has also been approved for exon 53 skipping.

Pilots are underway to assess NBS for DMD, including one planned in NSW. Most programs are based on raised CK levels.

For review.; to: Well established gene-disease association. Milder phenotypes such as BMD and DCM are also associated with variants in this gene. Females typically at risk for cardiac disease only.

Onset in early childhood.

Treatment: Eteplirsen, Casimersen and Golodirsen for exon skipping 51, 45 and 53, respectively. Vitolarsen has also been approved for exon 53 skipping.

Pilots are underway to assess NBS for DMD, including one planned in NSW. Most programs are based on raised CK levels.

For review. Discuss with neurology. Should we only report variants that are likely to benefit from treatment?
Genomic newborn screening: BabyScreen+ v0.1425 SPRED1 Seb Lunke Marked gene: SPRED1 as ready
Genomic newborn screening: BabyScreen+ v0.1425 SPRED1 Seb Lunke Gene: spred1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1425 SPRED1 Seb Lunke Phenotypes for gene: SPRED1 were changed from Legius syndrome to Legius syndrome, MIM# 611431
Genomic newborn screening: BabyScreen+ v0.1424 SPRED1 Seb Lunke Classified gene: SPRED1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1424 SPRED1 Seb Lunke Gene: spred1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1423 SPRED1 Seb Lunke reviewed gene: SPRED1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Legius syndrome, MIM# 611431; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1423 DMD Zornitza Stark Marked gene: DMD as ready
Genomic newborn screening: BabyScreen+ v0.1423 DMD Zornitza Stark Gene: dmd has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1423 DMD Zornitza Stark Phenotypes for gene: DMD were changed from Becker muscular dystrophy; Duchenne muscular dystrophy, MIM# 310200; Duchenne muscular dystrophy; Cardiomyopathy, dilated to Duchenne muscular dystrophy MIM#310200
Genomic newborn screening: BabyScreen+ v0.1422 DMD Zornitza Stark Publications for gene: DMD were set to
Genomic newborn screening: BabyScreen+ v0.1421 DMD Zornitza Stark Classified gene: DMD as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1421 DMD Zornitza Stark Gene: dmd has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1420 DMD Zornitza Stark Tag neurological tag was added to gene: DMD.
Genomic newborn screening: BabyScreen+ v0.1420 DMD Zornitza Stark reviewed gene: DMD: Rating: GREEN; Mode of pathogenicity: None; Publications: 36278620, 36152336, 35562557, 35307847; Phenotypes: Duchenne muscular dystrophy MIM#310200; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1420 SLC39A14 Zornitza Stark Tag treatable tag was added to gene: SLC39A14.
Tag metabolic tag was added to gene: SLC39A14.
Genomic newborn screening: BabyScreen+ v0.1420 SLC30A10 Zornitza Stark Tag treatable tag was added to gene: SLC30A10.
Tag metabolic tag was added to gene: SLC30A10.
Genomic newborn screening: BabyScreen+ v0.1420 SLC35A2 Zornitza Stark Tag metabolic tag was added to gene: SLC35A2.
Genomic newborn screening: BabyScreen+ v0.1420 SLC35C1 Zornitza Stark Tag metabolic tag was added to gene: SLC35C1.
Genomic newborn screening: BabyScreen+ v0.1420 SLC39A7 Zornitza Stark Tag for review was removed from gene: SLC39A7.
Tag treatable tag was added to gene: SLC39A7.
Tag immunological tag was added to gene: SLC39A7.
Genomic newborn screening: BabyScreen+ v0.1420 SLC39A7 Zornitza Stark reviewed gene: SLC39A7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinaemia 9, autosomal recessive, MIM# 619693; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1420 SLC2A1 Zornitza Stark Tag treatable tag was added to gene: SLC2A1.
Tag neurological tag was added to gene: SLC2A1.
Genomic newborn screening: BabyScreen+ v0.1420 SLC2A1 Zornitza Stark reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: GLUT1 deficiency syndrome 1, infantile onset, severe, MIM#606777, Dystonia 9, MIM#601042, GLUT1 deficiency syndrome 2, childhood onset, MIM#612126; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1420 DMD Seb Lunke Tag for review tag was added to gene: DMD.
Genomic newborn screening: BabyScreen+ v0.1420 SPR Seb Lunke Marked gene: SPR as ready
Genomic newborn screening: BabyScreen+ v0.1420 SPR Seb Lunke Gene: spr has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1420 SPR Seb Lunke Phenotypes for gene: SPR were changed from Sepiapterin reductase deficiency to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716
Genomic newborn screening: BabyScreen+ v0.1419 SPR Seb Lunke reviewed gene: SPR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1419 SLC37A4 Zornitza Stark Tag treatable tag was added to gene: SLC37A4.
Tag metabolic tag was added to gene: SLC37A4.
Genomic newborn screening: BabyScreen+ v0.1419 SLC39A4 Zornitza Stark Tag treatable tag was added to gene: SLC39A4.
Tag metabolic tag was added to gene: SLC39A4.
Genomic newborn screening: BabyScreen+ v0.1419 SLC39A8 Zornitza Stark Tag treatable tag was added to gene: SLC39A8.
Tag metabolic tag was added to gene: SLC39A8.
Genomic newborn screening: BabyScreen+ v0.1419 SLC3A1 Zornitza Stark Mode of inheritance for gene: SLC3A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1418 SPINK5 Seb Lunke Marked gene: SPINK5 as ready
Genomic newborn screening: BabyScreen+ v0.1418 SPINK5 Seb Lunke Gene: spink5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1418 SPINK5 Seb Lunke Phenotypes for gene: SPINK5 were changed from Netherton syndrome 1; Netherton syndrome to Netherton syndrome MIM# 256500
Genomic newborn screening: BabyScreen+ v0.1417 SLC3A1 Zornitza Stark Tag for review tag was added to gene: SLC3A1.
Tag treatable tag was added to gene: SLC3A1.
Tag renal tag was added to gene: SLC3A1.
Genomic newborn screening: BabyScreen+ v0.1417 SPINK5 Seb Lunke Classified gene: SPINK5 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1417 SPINK5 Seb Lunke Gene: spink5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1416 SPINK5 Seb Lunke reviewed gene: SPINK5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Netherton syndrome MIM# 256500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1416 SLC3A1 Zornitza Stark reviewed gene: SLC3A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cystinuria, MIM# 220100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1416 SPEG Seb Lunke Marked gene: SPEG as ready
Genomic newborn screening: BabyScreen+ v0.1416 SPEG Seb Lunke Gene: speg has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1416 SPEG Seb Lunke Classified gene: SPEG as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1416 SPEG Seb Lunke Gene: speg has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1415 SPEG Seb Lunke reviewed gene: SPEG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Centronuclear myopathy 5, MIM# 615959; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1415 SP110 Seb Lunke Marked gene: SP110 as ready
Genomic newborn screening: BabyScreen+ v0.1415 SP110 Seb Lunke Gene: sp110 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1415 SP110 Seb Lunke Phenotypes for gene: SP110 were changed from Hepatic venoocclusive disease with immunodeficiency to Hepatic veno-occlusive disease with immunodeficiency MIM#235550
Genomic newborn screening: BabyScreen+ v0.1414 SP110 Seb Lunke reviewed gene: SP110: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hepatic veno-occlusive disease with immunodeficiency MIM#235550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1414 SOX9 Seb Lunke Marked gene: SOX9 as ready
Genomic newborn screening: BabyScreen+ v0.1414 SOX9 Seb Lunke Gene: sox9 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1414 SOX9 Seb Lunke Phenotypes for gene: SOX9 were changed from Campomelic dysplasia to Campomelic dysplasia, MIM# 114290
Genomic newborn screening: BabyScreen+ v0.1413 SOX9 Seb Lunke Classified gene: SOX9 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1413 SOX9 Seb Lunke Gene: sox9 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1412 SOX9 Seb Lunke reviewed gene: SOX9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Campomelic dysplasia, MIM# 114290; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1412 SOX10 Seb Lunke Marked gene: SOX10 as ready
Genomic newborn screening: BabyScreen+ v0.1412 SOX10 Seb Lunke Gene: sox10 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1412 SOX10 Seb Lunke Classified gene: SOX10 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1412 SOX10 Seb Lunke Gene: sox10 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1411 SOX10 Seb Lunke reviewed gene: SOX10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1411 SNAP25 Seb Lunke Marked gene: SNAP25 as ready
Genomic newborn screening: BabyScreen+ v0.1411 SNAP25 Seb Lunke Gene: snap25 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1411 SNAP25 Seb Lunke Tag for review tag was added to gene: SNAP25.
Genomic newborn screening: BabyScreen+ v0.1411 SNAP25 Seb Lunke Phenotypes for gene: SNAP25 were changed from Myasthenic syndrome, congenital, 18, MIM# 616330 to Neurodevelopmental disorder, MONDO:0700092, SNAP25-related
Genomic newborn screening: BabyScreen+ v0.1410 SNAP25 Seb Lunke Publications for gene: SNAP25 were set to
Genomic newborn screening: BabyScreen+ v0.1409 SNAP25 Seb Lunke Classified gene: SNAP25 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1409 SNAP25 Seb Lunke Gene: snap25 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1408 SNAP25 Seb Lunke reviewed gene: SNAP25: Rating: RED; Mode of pathogenicity: None; Publications: 20301347; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, SNAP25-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1408 SMPX Seb Lunke Marked gene: SMPX as ready
Genomic newborn screening: BabyScreen+ v0.1408 SMPX Seb Lunke Gene: smpx has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1408 SMPX Seb Lunke changed review comment from: Established gene-disease association.

Childhood onset, neuro-muscular disorder

Treatment: no specific treatment available

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

Childhood onset, deafness

Treatment: no specific treatment available

Non-genetic confirmatory test: not assessed
Genomic newborn screening: BabyScreen+ v0.1408 SMPX Seb Lunke Phenotypes for gene: SMPX were changed from Deafness, X-linked to Deafness, X-linked 4, MIM# 300066
Genomic newborn screening: BabyScreen+ v0.1407 SMPX Seb Lunke Classified gene: SMPX as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1407 SMPX Seb Lunke Gene: smpx has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1406 SMPX Seb Lunke reviewed gene: SMPX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, X-linked 4, MIM# 300066 Myopathy, distal, 7, adult-onset, X-linked, MIM# 301075; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1406 SMPD1 Seb Lunke Marked gene: SMPD1 as ready
Genomic newborn screening: BabyScreen+ v0.1406 SMPD1 Seb Lunke Gene: smpd1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1406 SMPD1 Seb Lunke Phenotypes for gene: SMPD1 were changed from Niemann-Pick disease, type B; Niemann-Pick disease, type A to Niemann-Pick disease, type A, MIM# 257200; Niemann-Pick disease, type B, MIM# 607616
Genomic newborn screening: BabyScreen+ v0.1405 SMPD1 Seb Lunke Publications for gene: SMPD1 were set to
Genomic newborn screening: BabyScreen+ v0.1404 SMPD1 Seb Lunke reviewed gene: SMPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301544; Phenotypes: Niemann-Pick disease, type A, MIM# 257200, Niemann-Pick disease, type B, MIM# 607616; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1404 SMC1A Seb Lunke Marked gene: SMC1A as ready
Genomic newborn screening: BabyScreen+ v0.1404 SMC1A Seb Lunke Gene: smc1a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1404 SMC1A Seb Lunke Phenotypes for gene: SMC1A were changed from Cornelia de Lange syndrome to Cornelia de Lange syndrome 2, MIM# 300590; Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM# 301044
Genomic newborn screening: BabyScreen+ v0.1403 SMC1A Seb Lunke Mode of inheritance for gene: SMC1A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1402 SMC1A Seb Lunke Classified gene: SMC1A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1402 SMC1A Seb Lunke Gene: smc1a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1401 SMC1A Seb Lunke reviewed gene: SMC1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cornelia de Lange syndrome 2, MIM# 300590, Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM# 301044; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1401 SLC46A1 Zornitza Stark Tag treatable tag was added to gene: SLC46A1.
Tag metabolic tag was added to gene: SLC46A1.
Genomic newborn screening: BabyScreen+ v0.1401 SMAD3 Zornitza Stark Tag cardiac tag was added to gene: SMAD3.
Genomic newborn screening: BabyScreen+ v0.1401 SMARCAL1 Zornitza Stark Tag immunological tag was added to gene: SMARCAL1.
Diamond Blackfan anaemia v1.6 RPS15 Zornitza Stark Marked gene: RPS15 as ready
Diamond Blackfan anaemia v1.6 RPS15 Zornitza Stark Gene: rps15 has been classified as Red List (Low Evidence).
Diamond Blackfan anaemia v1.6 RPS15 Zornitza Stark gene: RPS15 was added
gene: RPS15 was added to Diamond Blackfan anaemia. Sources: Expert Review
Mode of inheritance for gene: RPS15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPS15 were set to 19061985
Phenotypes for gene: RPS15 were set to Diamond-Blackfan anaemia, MONDO:0015253, RPS15-related
Review for gene: RPS15 was set to RED
Added comment: Single individual reported in 2008, no reports since.
Sources: Expert Review
Mendeliome v1.554 RPS15 Zornitza Stark Marked gene: RPS15 as ready
Mendeliome v1.554 RPS15 Zornitza Stark Gene: rps15 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1401 RPS15 Zornitza Stark Phenotypes for gene: RPS15 were changed from Diamond-Blackfan anaemia to Diamond-Blackfan anaemia, MONDO:0015253, RPS15-related
Mendeliome v1.554 RPS15 Zornitza Stark Phenotypes for gene: RPS15 were changed from Diamond-Blackfan anaemia to Diamond-Blackfan anaemia, MONDO:0015253, RPS15-related
Mendeliome v1.553 RPS15 Zornitza Stark gene: RPS15 was added
gene: RPS15 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: RPS15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPS15 were set to 19061985
Phenotypes for gene: RPS15 were set to Diamond-Blackfan anaemia
Review for gene: RPS15 was set to RED
Added comment: Single individual reported in 2008, no reports since.
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1400 RPS15 Zornitza Stark Marked gene: RPS15 as ready
Genomic newborn screening: BabyScreen+ v0.1400 RPS15 Zornitza Stark Gene: rps15 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1400 RPS15 Zornitza Stark Phenotypes for gene: RPS15 were changed from Diamond-Blackfan anemia to Diamond-Blackfan anaemia
Genomic newborn screening: BabyScreen+ v0.1399 RPS15 Zornitza Stark Publications for gene: RPS15 were set to
Genomic newborn screening: BabyScreen+ v0.1398 RPS15 Zornitza Stark Classified gene: RPS15 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1398 RPS15 Zornitza Stark Gene: rps15 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1397 RPS15 Zornitza Stark changed review comment from: Single individual reported.; to: Single individual reported in 2008, no reports since.
Genomic newborn screening: BabyScreen+ v0.1397 RPS15 Zornitza Stark reviewed gene: RPS15: Rating: RED; Mode of pathogenicity: None; Publications: 19061985; Phenotypes: Diamond-Blackfan anaemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1397 RPS15A Zornitza Stark Marked gene: RPS15A as ready
Genomic newborn screening: BabyScreen+ v0.1397 RPS15A Zornitza Stark Gene: rps15a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1397 RPS15A Zornitza Stark Classified gene: RPS15A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1397 RPS15A Zornitza Stark Gene: rps15a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1396 RPS15A Zornitza Stark Tag for review tag was added to gene: RPS15A.
Tag treatable tag was added to gene: RPS15A.
Tag haematological tag was added to gene: RPS15A.
Genomic newborn screening: BabyScreen+ v0.1396 RPS15A Zornitza Stark reviewed gene: RPS15A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anaemia 20, MIM# 618313; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1396 RPS17 Zornitza Stark Marked gene: RPS17 as ready
Genomic newborn screening: BabyScreen+ v0.1396 RPS17 Zornitza Stark Gene: rps17 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1396 RPS17 Zornitza Stark Tag treatable tag was added to gene: RPS17.
Tag haematological tag was added to gene: RPS17.
Genomic newborn screening: BabyScreen+ v0.1396 RPS17 Zornitza Stark edited their review of gene: RPS17: Changed phenotypes: Diamond-Blackfan anaemia 4, MIM# 612527
Genomic newborn screening: BabyScreen+ v0.1396 RPS17 Zornitza Stark reviewed gene: RPS17: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1396 RPS19 Zornitza Stark Marked gene: RPS19 as ready
Genomic newborn screening: BabyScreen+ v0.1396 RPS19 Zornitza Stark Gene: rps19 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1396 RPS19 Zornitza Stark Tag treatable tag was added to gene: RPS19.
Tag haematological tag was added to gene: RPS19.
Genomic newborn screening: BabyScreen+ v0.1396 RPS19 Zornitza Stark edited their review of gene: RPS19: Changed phenotypes: Diamond-Blackfan anaemia 1, MIM# 105650
Genomic newborn screening: BabyScreen+ v0.1396 RPS19 Zornitza Stark reviewed gene: RPS19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1396 RPS24 Zornitza Stark Marked gene: RPS24 as ready
Genomic newborn screening: BabyScreen+ v0.1396 RPS24 Zornitza Stark Gene: rps24 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1396 RPS24 Zornitza Stark Tag treatable tag was added to gene: RPS24.
Tag haematological tag was added to gene: RPS24.
Genomic newborn screening: BabyScreen+ v0.1396 RPS24 Zornitza Stark edited their review of gene: RPS24: Changed phenotypes: Diamond-blackfan anaemia 3, MIM# 610629
Genomic newborn screening: BabyScreen+ v0.1396 RPS24 Zornitza Stark reviewed gene: RPS24: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1396 RPS26 Zornitza Stark Marked gene: RPS26 as ready
Genomic newborn screening: BabyScreen+ v0.1396 RPS26 Zornitza Stark Gene: rps26 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1396 RPS26 Zornitza Stark Tag treatable tag was added to gene: RPS26.
Tag haematological tag was added to gene: RPS26.
Genomic newborn screening: BabyScreen+ v0.1396 RPS26 Zornitza Stark reviewed gene: RPS26: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anaemia 10, MIM# 613309; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1396 SMARCAL1 Seb Lunke Marked gene: SMARCAL1 as ready
Genomic newborn screening: BabyScreen+ v0.1396 SMARCAL1 Seb Lunke Gene: smarcal1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1396 SMARCAL1 Seb Lunke Phenotypes for gene: SMARCAL1 were changed from Schimke immunoosseous dysplasia to Schimke immune-osseous dysplasia MIM# 242900
Genomic newborn screening: BabyScreen+ v0.1395 SMARCAL1 Seb Lunke Classified gene: SMARCAL1 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1395 SMARCAL1 Seb Lunke Gene: smarcal1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1394 SMARCAL1 Seb Lunke Tag for review tag was added to gene: SMARCAL1.
Genomic newborn screening: BabyScreen+ v0.1394 SMARCAL1 Seb Lunke reviewed gene: SMARCAL1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Schimke immune-osseous dysplasia MIM# 242900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1394 SMAD4 Seb Lunke Marked gene: SMAD4 as ready
Genomic newborn screening: BabyScreen+ v0.1394 SMAD4 Seb Lunke Gene: smad4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1394 SMAD4 Seb Lunke Phenotypes for gene: SMAD4 were changed from Juvenile polyposis syndrome to Polyposis, juvenile intestinal, MIM# 174900; Myhre syndrome, MIM# 139210
Genomic newborn screening: BabyScreen+ v0.1393 SMAD4 Seb Lunke Publications for gene: SMAD4 were set to
Genomic newborn screening: BabyScreen+ v0.1392 SMAD4 Seb Lunke Classified gene: SMAD4 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1392 SMAD4 Seb Lunke Gene: smad4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1391 SMAD4 Seb Lunke reviewed gene: SMAD4: Rating: RED; Mode of pathogenicity: None; Publications: 20301642; Phenotypes: Polyposis, juvenile intestinal, MIM# 174900, Myhre syndrome, MIM# 139210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1391 SMAD3 Seb Lunke Marked gene: SMAD3 as ready
Genomic newborn screening: BabyScreen+ v0.1391 SMAD3 Seb Lunke Gene: smad3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1391 SMAD3 Seb Lunke Phenotypes for gene: SMAD3 were changed from Loeys-Dietz syndrome to Loeys-Dietz syndrome 3, MIM# 613795
Genomic newborn screening: BabyScreen+ v0.1390 SMAD3 Seb Lunke Publications for gene: SMAD3 were set to
Genomic newborn screening: BabyScreen+ v0.1389 SMAD3 Seb Lunke Tag for review tag was added to gene: SMAD3.
Genomic newborn screening: BabyScreen+ v0.1389 SMAD3 Seb Lunke reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301312; Phenotypes: Loeys-Dietz syndrome 3, MIM# 613795; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1389 SLC4A1 Zornitza Stark Tag treatable tag was added to gene: SLC4A1.
Tag renal tag was added to gene: SLC4A1.
Genomic newborn screening: BabyScreen+ v0.1389 SLC52A2 Zornitza Stark Tag treatable tag was added to gene: SLC52A2.
Tag metabolic tag was added to gene: SLC52A2.
Genomic newborn screening: BabyScreen+ v0.1389 SLC52A3 Zornitza Stark Tag treatable tag was added to gene: SLC52A3.
Tag metabolic tag was added to gene: SLC52A3.
Genomic newborn screening: BabyScreen+ v0.1389 SLC5A1 Zornitza Stark Tag treatable tag was added to gene: SLC5A1.
Tag gastrointestinal tag was added to gene: SLC5A1.
Genomic newborn screening: BabyScreen+ v0.1389 SLC5A5 Zornitza Stark Tag treatable tag was added to gene: SLC5A5.
Tag endocrine tag was added to gene: SLC5A5.
Genomic newborn screening: BabyScreen+ v0.1389 SLC5A5 Zornitza Stark reviewed gene: SLC5A5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.1389 SLC6A8 Zornitza Stark Marked gene: SLC6A8 as ready
Genomic newborn screening: BabyScreen+ v0.1389 SLC6A8 Zornitza Stark Gene: slc6a8 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1389 SLC6A8 Zornitza Stark Publications for gene: SLC6A8 were set to
Genomic newborn screening: BabyScreen+ v0.1388 SLC6A8 Zornitza Stark Classified gene: SLC6A8 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1388 SLC6A8 Zornitza Stark Gene: slc6a8 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1387 SLC6A8 Zornitza Stark Tag for review tag was added to gene: SLC6A8.
Tag metabolic tag was added to gene: SLC6A8.
Genomic newborn screening: BabyScreen+ v0.1387 SLC6A8 Zornitza Stark reviewed gene: SLC6A8: Rating: AMBER; Mode of pathogenicity: None; Publications: 24953403; Phenotypes: Cerebral creatine deficiency syndrome 1, MIM# 300352; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.1387 SLC7A7 Zornitza Stark Tag treatable tag was added to gene: SLC7A7.
Tag metabolic tag was added to gene: SLC7A7.
Genomic newborn screening: BabyScreen+ v0.1387 SLC7A9 Zornitza Stark Mode of inheritance for gene: SLC7A9 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1386 SLC7A9 Zornitza Stark Tag for review tag was added to gene: SLC7A9.
Genomic newborn screening: BabyScreen+ v0.1386 SLC7A9 Zornitza Stark reviewed gene: SLC7A9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cystinuria, MIM# 220100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1386 SLX4 Zornitza Stark Tag treatable tag was added to gene: SLX4.
Tag haematological tag was added to gene: SLX4.
Genomic newborn screening: BabyScreen+ v0.1386 RPS27 Zornitza Stark Marked gene: RPS27 as ready
Genomic newborn screening: BabyScreen+ v0.1386 RPS27 Zornitza Stark Gene: rps27 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1386 RPS27 Zornitza Stark Classified gene: RPS27 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1386 RPS27 Zornitza Stark Gene: rps27 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1385 RPS27 Zornitza Stark Tag for review tag was added to gene: RPS27.
Tag treatable tag was added to gene: RPS27.
Tag haematological tag was added to gene: RPS27.
Genomic newborn screening: BabyScreen+ v0.1385 RPS27 Zornitza Stark reviewed gene: RPS27: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anemia 17, MIM# 617409; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1385 RPS28 Zornitza Stark Marked gene: RPS28 as ready
Genomic newborn screening: BabyScreen+ v0.1385 RPS28 Zornitza Stark Gene: rps28 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1385 RPS28 Zornitza Stark Classified gene: RPS28 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1385 RPS28 Zornitza Stark Gene: rps28 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1384 RPS28 Zornitza Stark Tag for review tag was added to gene: RPS28.
Tag treatable tag was added to gene: RPS28.
Tag haematological tag was added to gene: RPS28.
Genomic newborn screening: BabyScreen+ v0.1384 RPS28 Zornitza Stark changed review comment from: Congenital onset.

DBA is a treatable disorder: corticosteroids, red blood cell transfusion, BMT.; to: Two individuals reported in 2014, none since.

Congenital onset.

DBA is a treatable disorder: corticosteroids, red blood cell transfusion, BMT.
Genomic newborn screening: BabyScreen+ v0.1384 RPS28 Zornitza Stark edited their review of gene: RPS28: Changed rating: RED; Changed phenotypes: Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1384 RPS28 Zornitza Stark commented on gene: RPS28
Genomic newborn screening: BabyScreen+ v0.1384 RPS29 Zornitza Stark Marked gene: RPS29 as ready
Genomic newborn screening: BabyScreen+ v0.1384 RPS29 Zornitza Stark Gene: rps29 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1384 RPS29 Zornitza Stark Classified gene: RPS29 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1384 RPS29 Zornitza Stark Gene: rps29 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1383 RPS29 Zornitza Stark Tag for review tag was added to gene: RPS29.
Tag treatable tag was added to gene: RPS29.
Tag haematological tag was added to gene: RPS29.
Genomic newborn screening: BabyScreen+ v0.1383 RPS29 Zornitza Stark reviewed gene: RPS29: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anemia 13, MIM# 615909; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1383 RPS6KA3 Zornitza Stark Marked gene: RPS6KA3 as ready
Genomic newborn screening: BabyScreen+ v0.1383 RPS6KA3 Zornitza Stark Gene: rps6ka3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1383 RPS6KA3 Zornitza Stark Phenotypes for gene: RPS6KA3 were changed from Coffin-Lowry syndrome to Coffin-Lowry syndrome MIM# 303600
Genomic newborn screening: BabyScreen+ v0.1382 RPS6KA3 Zornitza Stark Classified gene: RPS6KA3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1382 RPS6KA3 Zornitza Stark Gene: rps6ka3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1381 RPS6KA3 Zornitza Stark reviewed gene: RPS6KA3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Coffin-Lowry syndrome MIM# 303600; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1381 RRM2B Zornitza Stark Marked gene: RRM2B as ready
Genomic newborn screening: BabyScreen+ v0.1381 RRM2B Zornitza Stark Gene: rrm2b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1381 RRM2B Zornitza Stark Phenotypes for gene: RRM2B were changed from Mitochondrial DNA depletion syndrome to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075; Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction, MIM# 268315
Genomic newborn screening: BabyScreen+ v0.1380 RRM2B Zornitza Stark Classified gene: RRM2B as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1380 RRM2B Zornitza Stark Gene: rrm2b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1379 RRM2B Zornitza Stark reviewed gene: RRM2B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075, Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075, Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction, MIM# 268315; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1379 RS1 Zornitza Stark Marked gene: RS1 as ready
Genomic newborn screening: BabyScreen+ v0.1379 RS1 Zornitza Stark Gene: rs1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1379 RS1 Zornitza Stark Phenotypes for gene: RS1 were changed from Retinoschisis, X linked to Retinoschisis, MIM#312700
Genomic newborn screening: BabyScreen+ v0.1378 RS1 Zornitza Stark Classified gene: RS1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1378 RS1 Zornitza Stark Gene: rs1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1377 RS1 Zornitza Stark reviewed gene: RS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinoschisis, MIM#312700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1377 RSPH4A Zornitza Stark Marked gene: RSPH4A as ready
Genomic newborn screening: BabyScreen+ v0.1377 RSPH4A Zornitza Stark Gene: rsph4a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1377 RSPH4A Zornitza Stark Phenotypes for gene: RSPH4A were changed from Ciliary dyskinesia, primary to Ciliary dyskinesia, primary, 11 (MIM#612649)
Genomic newborn screening: BabyScreen+ v0.1376 RSPH4A Zornitza Stark Classified gene: RSPH4A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1376 RSPH4A Zornitza Stark Gene: rsph4a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1375 RSPH4A Zornitza Stark reviewed gene: RSPH4A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 11 (MIM#612649); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1375 RSPH9 Zornitza Stark Marked gene: RSPH9 as ready
Genomic newborn screening: BabyScreen+ v0.1375 RSPH9 Zornitza Stark Gene: rsph9 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1375 RSPH9 Zornitza Stark Phenotypes for gene: RSPH9 were changed from Ciliary dyskinesia, primary to Ciliary dyskinesia, primary, 12 (MIM#612650)
Genomic newborn screening: BabyScreen+ v0.1374 RSPH9 Zornitza Stark Classified gene: RSPH9 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1374 RSPH9 Zornitza Stark Gene: rsph9 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1373 RSPH9 Zornitza Stark reviewed gene: RSPH9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 12 (MIM#612650); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1373 RUNX2 Zornitza Stark Marked gene: RUNX2 as ready
Genomic newborn screening: BabyScreen+ v0.1373 RUNX2 Zornitza Stark Gene: runx2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1373 RUNX2 Zornitza Stark Phenotypes for gene: RUNX2 were changed from Cleidocranial dysostosis to Cleidocranial dysplasia MIM#119600; Cleidocranial dysplasia, forme fruste, dental anomalies only MIM#119600; Cleidocranial dysplasia, forme fruste, with brachydactyly MIM#119600; Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly MIM#156510
Genomic newborn screening: BabyScreen+ v0.1372 RUNX2 Zornitza Stark Classified gene: RUNX2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1372 RUNX2 Zornitza Stark Gene: runx2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1371 RUNX2 Zornitza Stark reviewed gene: RUNX2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cleidocranial dysplasia MIM#119600, Cleidocranial dysplasia, forme fruste, dental anomalies only MIM#119600, Cleidocranial dysplasia, forme fruste, with brachydactyly MIM#119600, Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly MIM#156510; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1371 CACNA1S Zornitza Stark Marked gene: CACNA1S as ready
Genomic newborn screening: BabyScreen+ v0.1371 CACNA1S Zornitza Stark Gene: cacna1s has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1371 CACNA1S Zornitza Stark Phenotypes for gene: CACNA1S were changed from Malignant hyperthermia to Malignant hyperthermia susceptibility 5, MIM# 601887
Genomic newborn screening: BabyScreen+ v0.1370 CACNA1S Zornitza Stark Classified gene: CACNA1S as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1370 CACNA1S Zornitza Stark Gene: cacna1s has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1369 CACNA1S Zornitza Stark Tag for review tag was added to gene: CACNA1S.
Tag pharmacogenomic tag was added to gene: CACNA1S.
Genomic newborn screening: BabyScreen+ v0.1369 CACNA1S Zornitza Stark reviewed gene: CACNA1S: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Malignant hyperthermia susceptibility 5, MIM# 601887; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1369 RYR1 Zornitza Stark Marked gene: RYR1 as ready
Genomic newborn screening: BabyScreen+ v0.1369 RYR1 Zornitza Stark Gene: ryr1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1369 RYR1 Zornitza Stark Phenotypes for gene: RYR1 were changed from Malignant hyperthermia, multiminicore disease MIM#180901 to {Malignant hyperthermia susceptibility 1} MIM#145600
Genomic newborn screening: BabyScreen+ v0.1368 RYR1 Zornitza Stark Mode of inheritance for gene: RYR1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1367 RYR1 Zornitza Stark Tag for review tag was added to gene: RYR1.
Tag pharmacogenomic tag was added to gene: RYR1.
Genomic newborn screening: BabyScreen+ v0.1367 RYR1 Zornitza Stark reviewed gene: RYR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Malignant hyperthermia susceptibility 1} MIM#145600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1367 RYR2 Zornitza Stark Marked gene: RYR2 as ready
Genomic newborn screening: BabyScreen+ v0.1367 RYR2 Zornitza Stark Gene: ryr2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1367 RYR2 Zornitza Stark Tag for review tag was added to gene: RYR2.
Tag cardiac tag was added to gene: RYR2.
Tag treatable tag was added to gene: RYR2.
Genomic newborn screening: BabyScreen+ v0.1367 RYR2 Zornitza Stark reviewed gene: RYR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ventricular tachycardia, catecholaminergic polymorphic, 1, MIM# 604772; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1367 INSR Zornitza Stark Marked gene: INSR as ready
Genomic newborn screening: BabyScreen+ v0.1367 INSR Zornitza Stark Gene: insr has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1367 INSR Zornitza Stark Phenotypes for gene: INSR were changed from Leprechaunism to Hyperinsulinemic hypoglycemia, familial, 5, MIM# 609968; Leprechaunism, MIM# 246200; Rabson-Mendenhall syndrome, MIM# 262190
Genomic newborn screening: BabyScreen+ v0.1366 INSR Zornitza Stark Mode of inheritance for gene: INSR was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1365 INSR Zornitza Stark Classified gene: INSR as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1365 INSR Zornitza Stark Gene: insr has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1364 INSR Zornitza Stark reviewed gene: INSR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperinsulinemic hypoglycemia, familial, 5, MIM# 609968, Leprechaunism, MIM# 246200, Rabson-Mendenhall syndrome, MIM# 262190; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1364 SLX4 Seb Lunke Marked gene: SLX4 as ready
Genomic newborn screening: BabyScreen+ v0.1364 SLX4 Seb Lunke Gene: slx4 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1364 SLX4 Seb Lunke reviewed gene: SLX4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anaemia, complementation group P, MIM# 613951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.149 TOR1AIP1 Zornitza Stark Marked gene: TOR1AIP1 as ready
Cardiomyopathy_Paediatric v0.149 TOR1AIP1 Zornitza Stark Gene: tor1aip1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.149 TOR1AIP1 Zornitza Stark Classified gene: TOR1AIP1 as Green List (high evidence)
Cardiomyopathy_Paediatric v0.149 TOR1AIP1 Zornitza Stark Gene: tor1aip1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.148 TOR1AIP1 Zornitza Stark gene: TOR1AIP1 was added
gene: TOR1AIP1 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: TOR1AIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOR1AIP1 were set to 24856141; 27342937; 32055997; 25425325
Phenotypes for gene: TOR1AIP1 were set to Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072; Autosomal recessive limb-girdle muscular dystrophy type 2Y, MONDO:0014900
Review for gene: TOR1AIP1 was set to GREEN
Added comment: At least 15 affected individuals from 10 families with biallelic variants in this gene. Of these, 7 individuals (5 families) reported in PMID:30723199 harbour the same founder variant presenting a very similar phenotype, and are therefore considered collectively here.

Muscular dystrophy is the prominent feature of the disease presentation observed in at least one case individual each family, but specifically proximal limb-girdle dystrophy was recorded in 4 unrelated kindreds. Additional common features also include joint contractures (4 fam), dilated cardiomyopathy (4 fam), developmental delay (4 fam), and cataracts (3 fam).

Age of onset for cardiomyopathy was variable ranging from childhood to adulthood.
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.1364 SLCO2A1 Seb Lunke Marked gene: SLCO2A1 as ready
Genomic newborn screening: BabyScreen+ v0.1364 SLCO2A1 Seb Lunke Gene: slco2a1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1364 SLCO2A1 Seb Lunke Classified gene: SLCO2A1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1364 SLCO2A1 Seb Lunke Gene: slco2a1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1363 SLCO2A1 Seb Lunke reviewed gene: SLCO2A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM# 167100, Hypertrophic osteoarthropathy, primary, autosomal recessive 2, MIM# 614441; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.147 SPRED2 Zornitza Stark Marked gene: SPRED2 as ready
Cardiomyopathy_Paediatric v0.147 SPRED2 Zornitza Stark Gene: spred2 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.147 SPRED2 Zornitza Stark Classified gene: SPRED2 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v0.147 SPRED2 Zornitza Stark Gene: spred2 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.146 SPRED2 Zornitza Stark gene: SPRED2 was added
gene: SPRED2 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: SPRED2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPRED2 were set to 34626534
Phenotypes for gene: SPRED2 were set to Noonan syndrome 14, MIM# 619745
Review for gene: SPRED2 was set to AMBER
Added comment: Four individuals from three families reported with bi-allelic variants and a Noonan-like phenotype. One individual has HCM, and another asymmetrical interventricular septal hypertrophy.
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.1363 SLC9A6 Seb Lunke Marked gene: SLC9A6 as ready
Genomic newborn screening: BabyScreen+ v0.1363 SLC9A6 Seb Lunke Gene: slc9a6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1363 SLC9A6 Seb Lunke Phenotypes for gene: SLC9A6 were changed from Christianson syndrome to Mental retardation, X-linked syndromic, Christianson type, MIM# 300243
Genomic newborn screening: BabyScreen+ v0.1362 SLC9A6 Seb Lunke Classified gene: SLC9A6 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1362 SLC9A6 Seb Lunke Gene: slc9a6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1361 SLC9A6 Seb Lunke reviewed gene: SLC9A6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, X-linked syndromic, Christianson type, MIM# 300243; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cardiomyopathy_Paediatric v0.145 GSN Zornitza Stark Marked gene: GSN as ready
Cardiomyopathy_Paediatric v0.145 GSN Zornitza Stark Gene: gsn has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v0.145 GSN Zornitza Stark gene: GSN was added
gene: GSN was added to Cardiomyopathy_Paediatric. Sources: Expert list
Mode of inheritance for gene: GSN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GSN were set to 26339870
Phenotypes for gene: GSN were set to Amyloidosis, Finnish type, MIM# 105120
Review for gene: GSN was set to RED
Added comment: PMID: 26339870 found that 12/227 patients had cardiomyopathy and previous case reports and publications show that cardiomyopathy is only present in some cases and the age of diagnosis (or when pacemakers were implants into patients) is typically >50 years. Cardiomyopathy does not appear to be a presenting feature in childhood.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1361 SLC7A9 Seb Lunke Marked gene: SLC7A9 as ready
Genomic newborn screening: BabyScreen+ v0.1361 SLC7A9 Seb Lunke Added comment: Comment when marking as ready: Established gene-disease association.

Childhood onset, multi-system disorder

Treatment: no specific treatment available

Non-genetic confirmatory test: not assessed
Genomic newborn screening: BabyScreen+ v0.1361 SLC7A9 Seb Lunke Gene: slc7a9 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1361 SLC7A9 Seb Lunke Phenotypes for gene: SLC7A9 were changed from Cystinuria to Cystinuria, MIM# 220100
Genomic newborn screening: BabyScreen+ v0.1360 SLC7A9 Seb Lunke Classified gene: SLC7A9 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1360 SLC7A9 Seb Lunke Gene: slc7a9 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1359 SLC7A9 Seb Lunke reviewed gene: SLC7A9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cystinuria, MIM# 220100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1359 SLC7A7 Seb Lunke Deleted their comment
Genomic newborn screening: BabyScreen+ v0.1359 SLC7A7 Seb Lunke edited their review of gene: SLC7A7: Added comment: Established gene-disease association.

Childhood onset, multi-system disorder

Treatment: protein restriction, carnitine, citrulline, lysine supplementation, sodium benzoate

Non-genetic confirmatory test: 24-hour urinary excretion of cationic amino acids; Changed publications: 20301535
Genomic newborn screening: BabyScreen+ v0.1359 SLC7A7 Seb Lunke Marked gene: SLC7A7 as ready
Genomic newborn screening: BabyScreen+ v0.1359 SLC7A7 Seb Lunke Gene: slc7a7 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1359 SLC7A7 Seb Lunke Publications for gene: SLC7A7 were set to
Genomic newborn screening: BabyScreen+ v0.1358 SLC7A7 Seb Lunke Phenotypes for gene: SLC7A7 were changed from Lysinuric protein intolerance to Lysinuric protein intolerance, MIM# 222700
Genomic newborn screening: BabyScreen+ v0.1357 SLC7A7 Seb Lunke reviewed gene: SLC7A7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lysinuric protein intolerance, MIM# 222700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1357 SLC6A8 Seb Lunke Phenotypes for gene: SLC6A8 were changed from Creatine deficiency syndrome, X-linked to Cerebral creatine deficiency syndrome 1, MIM# 300352
Genomic newborn screening: BabyScreen+ v0.1356 SLC6A8 Seb Lunke Classified gene: SLC6A8 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1356 SLC6A8 Seb Lunke Gene: slc6a8 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1355 SLC6A8 Seb Lunke reviewed gene: SLC6A8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral creatine deficiency syndrome 1, MIM# 300352; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1355 SLC6A5 Seb Lunke Marked gene: SLC6A5 as ready
Genomic newborn screening: BabyScreen+ v0.1355 SLC6A5 Seb Lunke Gene: slc6a5 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1355 SLC6A5 Seb Lunke Classified gene: SLC6A5 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1355 SLC6A5 Seb Lunke Gene: slc6a5 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1354 SLC6A5 Seb Lunke Tag for review tag was added to gene: SLC6A5.
Genomic newborn screening: BabyScreen+ v0.1354 SLC6A5 Seb Lunke reviewed gene: SLC6A5: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301437; Phenotypes: Hyperekplexia 3, MIM# 614618; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1354 SLC6A19 Seb Lunke Marked gene: SLC6A19 as ready
Genomic newborn screening: BabyScreen+ v0.1354 SLC6A19 Seb Lunke Gene: slc6a19 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1354 SLC6A19 Seb Lunke Classified gene: SLC6A19 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1354 SLC6A19 Seb Lunke Gene: slc6a19 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1353 SLC6A19 Seb Lunke reviewed gene: SLC6A19: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hartnup disorder, MIM# 234500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1353 SLC5A5 Seb Lunke Marked gene: SLC5A5 as ready
Genomic newborn screening: BabyScreen+ v0.1353 SLC5A5 Seb Lunke Gene: slc5a5 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1353 SLC5A5 Seb Lunke Phenotypes for gene: SLC5A5 were changed from Thyroid dyshormonogenesis 1 to Thyroid dyshormonogenesis 1, MIM# 274400
Genomic newborn screening: BabyScreen+ v0.1352 SLC5A5 Seb Lunke Publications for gene: SLC5A5 were set to
Genomic newborn screening: BabyScreen+ v0.1351 SLC5A5 Seb Lunke reviewed gene: SLC5A5: Rating: ; Mode of pathogenicity: None; Publications: 33272083; Phenotypes: Thyroid dyshormonogenesis 1, MIM# 274400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1351 SLC5A1 Seb Lunke Marked gene: SLC5A1 as ready
Genomic newborn screening: BabyScreen+ v0.1351 SLC5A1 Seb Lunke Gene: slc5a1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1351 SLC5A1 Seb Lunke reviewed gene: SLC5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glucose/galactose malabsorption, MIM# 606824; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1351 SLC52A3 Seb Lunke Marked gene: SLC52A3 as ready
Genomic newborn screening: BabyScreen+ v0.1351 SLC52A3 Seb Lunke Gene: slc52a3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1351 SLC52A3 Seb Lunke Phenotypes for gene: SLC52A3 were changed from Brown-Vialetto-Van Laere syndrome 1, MIM# 211530; Fazio-Londe disease, MIM#211500 to Brown-Vialetto-Van Laere syndrome 1, MIM# 211530
Genomic newborn screening: BabyScreen+ v0.1350 SLC52A3 Seb Lunke reviewed gene: SLC52A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brown-Vialetto-Van Laere syndrome 1, MIM# 211530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1350 SLC52A2 Seb Lunke Marked gene: SLC52A2 as ready
Genomic newborn screening: BabyScreen+ v0.1350 SLC52A2 Seb Lunke Gene: slc52a2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1350 SLC52A2 Seb Lunke reviewed gene: SLC52A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brown-Vialetto-Van Laere syndrome 2, MIM# 614707; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1350 SLC4A11 Seb Lunke Marked gene: SLC4A11 as ready
Genomic newborn screening: BabyScreen+ v0.1350 SLC4A11 Seb Lunke Gene: slc4a11 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1350 SLC4A11 Seb Lunke Mode of inheritance for gene: SLC4A11 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1349 SLC4A11 Seb Lunke Phenotypes for gene: SLC4A11 were changed from Corneal endothelial dystrophy to Corneal endothelial dystrophy and perceptive deafness, MIM# 217400
Genomic newborn screening: BabyScreen+ v0.1348 SLC4A11 Seb Lunke Classified gene: SLC4A11 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1348 SLC4A11 Seb Lunke Gene: slc4a11 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1347 SLC4A11 Seb Lunke reviewed gene: SLC4A11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Corneal endothelial dystrophy and perceptive deafness, MIM# 217400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1347 INS Zornitza Stark Marked gene: INS as ready
Genomic newborn screening: BabyScreen+ v0.1347 INS Zornitza Stark Gene: ins has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1347 INS Zornitza Stark Phenotypes for gene: INS were changed from Diabetes mellitus, permanent neonatal MIM# 618858Permanent neonatal diabetes mellitus-4 (PNDM4) is characterized by chronic hyperglycemia due to severe nonautoimmune insulin deficiency diagnosed in the first months of life to Diabetes mellitus, insulin-dependent, 2, MIM# 125852; Diabetes mellitus, permanent neonatal 4, MIM# 618858; Maturity-onset diabetes of the young, type 10, MIM# 613370
Genomic newborn screening: BabyScreen+ v0.1346 INS Zornitza Stark Mode of inheritance for gene: INS was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1345 INS Zornitza Stark Tag for review tag was added to gene: INS.
Tag treatable tag was added to gene: INS.
Tag endocrine tag was added to gene: INS.
Genomic newborn screening: BabyScreen+ v0.1345 INS Zornitza Stark edited their review of gene: INS: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.1345 INS Zornitza Stark reviewed gene: INS: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes mellitus, insulin-dependent, 2, MIM# 125852, Diabetes mellitus, permanent neonatal 4, MIM# 618858, Maturity-onset diabetes of the young, type 10, MIM# 613370; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1345 HBB Zornitza Stark Marked gene: HBB as ready
Genomic newborn screening: BabyScreen+ v0.1345 HBB Zornitza Stark Gene: hbb has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1345 HBB Zornitza Stark Phenotypes for gene: HBB were changed from Beta-thalassemia to Sickle cell anaemia, MIM# 603903; Thalassaemia, beta, MIM# 613985
Genomic newborn screening: BabyScreen+ v0.1344 HBB Zornitza Stark Tag for review tag was added to gene: HBB.
Tag treatable tag was added to gene: HBB.
Tag haematological tag was added to gene: HBB.
Genomic newborn screening: BabyScreen+ v0.1344 HBB Zornitza Stark reviewed gene: HBB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sickle cell anaemia, MIM# 603903, Thalassaemia, beta, MIM# 613985; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1344 HBA2 Zornitza Stark Marked gene: HBA2 as ready
Genomic newborn screening: BabyScreen+ v0.1344 HBA2 Zornitza Stark Gene: hba2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1344 HBA2 Zornitza Stark Tag for review tag was added to gene: HBA2.
Tag treatable tag was added to gene: HBA2.
Tag haematological tag was added to gene: HBA2.
Genomic newborn screening: BabyScreen+ v0.1344 HBA2 Zornitza Stark reviewed gene: HBA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thalassemia, alpha-, MIM# 604131; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1344 HBA1 Zornitza Stark Marked gene: HBA1 as ready
Genomic newborn screening: BabyScreen+ v0.1344 HBA1 Zornitza Stark Gene: hba1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1344 HBA1 Zornitza Stark Tag for review tag was added to gene: HBA1.
Tag haematological tag was added to gene: HBA1.
Genomic newborn screening: BabyScreen+ v0.1344 HBA1 Zornitza Stark reviewed gene: HBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thalassemias, alpha- , MIM#604131; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1344 SLC4A1 Seb Lunke Marked gene: SLC4A1 as ready
Genomic newborn screening: BabyScreen+ v0.1344 SLC4A1 Seb Lunke Gene: slc4a1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1344 SLC4A1 Seb Lunke Tag for review tag was added to gene: SLC4A1.
Genomic newborn screening: BabyScreen+ v0.1344 SLC4A1 Seb Lunke Phenotypes for gene: SLC4A1 were changed from Spherocytosis to Distal renal tubular acidosis 4 with haemolytic anaemia MIM# 611590
Genomic newborn screening: BabyScreen+ v0.1343 SLC4A1 Seb Lunke Publications for gene: SLC4A1 were set to
Genomic newborn screening: BabyScreen+ v0.1342 SLC4A1 Seb Lunke Mode of inheritance for gene: SLC4A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1341 SLC4A1 Seb Lunke changed review comment from: Established gene-disease association.

Childhood onset, metabolic condition

Treatment: oral alkali replacement therapy, potassium chloride

Non-genetic confirmatory test: serum bicarbonate, chloride, potassium, urinary pH and anion gap; to: Established gene-disease association.

Childhood onset, metabolic condition

Treatment: oral alkali replacement therapy, potassium chloride. Not clear if treatment equally applicable to dominant and recessive forms of disease

Non-genetic confirmatory test: serum bicarbonate, chloride, potassium, urinary pH and anion gap
Genomic newborn screening: BabyScreen+ v0.1341 SLC4A1 Seb Lunke reviewed gene: SLC4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31600044; Phenotypes: Distal renal tubular acidosis 4 with haemolytic anaemia MIM# 611590; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1341 SLC46A1 Seb Lunke Marked gene: SLC46A1 as ready
Genomic newborn screening: BabyScreen+ v0.1341 SLC46A1 Seb Lunke Gene: slc46a1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1341 SLC46A1 Seb Lunke Phenotypes for gene: SLC46A1 were changed from Folate malabsorption, hereditary, MIM# to Folate malabsorption, hereditary, MIM# 229050
Genomic newborn screening: BabyScreen+ v0.1340 SLC46A1 Seb Lunke changed review comment from: Established gene-disease association.

Childhood onset, metabolic disorders

Treatment: 5-formyltetrahydrofolate (5-formylTHF, folinic acid, Leucovorin) or the active isomer of 5-formylTHF (Isovorin or Fusilev) Parenteral (intramuscular) or high-dose oral

Non-genetic confirmatory test: CSF and serum folate levels; to: Established gene-disease association.

Childhood onset, metabolic disorder

Treatment: 5-formyltetrahydrofolate (5-formylTHF, folinic acid, Leucovorin) or the active isomer of 5-formylTHF (Isovorin or Fusilev) Parenteral (intramuscular) or high-dose oral

Non-genetic confirmatory test: CSF and serum folate levels
Genomic newborn screening: BabyScreen+ v0.1340 SLC46A1 Seb Lunke changed review comment from: Established gene-disease association.

Childhood onset,

Treatment: 5-formyltetrahydrofolate (5-formylTHF, folinic acid, Leucovorin) or the active isomer of 5-formylTHF (Isovorin or Fusilev) Parenteral (intramuscular) or high-dose oral

Non-genetic confirmatory test: CSF and serum folate levels; to: Established gene-disease association.

Childhood onset, metabolic disorders

Treatment: 5-formyltetrahydrofolate (5-formylTHF, folinic acid, Leucovorin) or the active isomer of 5-formylTHF (Isovorin or Fusilev) Parenteral (intramuscular) or high-dose oral

Non-genetic confirmatory test: CSF and serum folate levels
Genomic newborn screening: BabyScreen+ v0.1340 SLC46A1 Seb Lunke reviewed gene: SLC46A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301716; Phenotypes: Folate malabsorption, hereditary, MIM# 229050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1340 SLC45A2 Seb Lunke Marked gene: SLC45A2 as ready
Genomic newborn screening: BabyScreen+ v0.1340 SLC45A2 Seb Lunke Gene: slc45a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1340 SLC45A2 Seb Lunke Phenotypes for gene: SLC45A2 were changed from Oculocutaneous albinism, type IV to Albinism, oculocutaneous, type IV, MIM# 606574
Genomic newborn screening: BabyScreen+ v0.1339 SLC45A2 Seb Lunke Classified gene: SLC45A2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1339 SLC45A2 Seb Lunke Gene: slc45a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1338 SLC45A2 Seb Lunke reviewed gene: SLC45A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Albinism, oculocutaneous, type IV, MIM# 606574; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1338 SLC3A1 Seb Lunke Marked gene: SLC3A1 as ready
Genomic newborn screening: BabyScreen+ v0.1338 SLC3A1 Seb Lunke Gene: slc3a1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1338 SLC3A1 Seb Lunke Phenotypes for gene: SLC3A1 were changed from Cystinuria to Cystinuria, MIM# 220100
Genomic newborn screening: BabyScreen+ v0.1337 SLC3A1 Seb Lunke Classified gene: SLC3A1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1337 SLC3A1 Seb Lunke Gene: slc3a1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1336 SLC3A1 Seb Lunke reviewed gene: SLC3A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cystinuria, MIM# 220100; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.1336 SLC39A8 Seb Lunke Marked gene: SLC39A8 as ready
Genomic newborn screening: BabyScreen+ v0.1336 SLC39A8 Seb Lunke Gene: slc39a8 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1336 SLC39A8 Seb Lunke Publications for gene: SLC39A8 were set to
Genomic newborn screening: BabyScreen+ v0.1335 SLC39A8 Seb Lunke reviewed gene: SLC39A8: Rating: GREEN; Mode of pathogenicity: None; Publications: 28722865; Phenotypes: Congenital disorder of glycosylation, type IIn , MIM#16721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1335 SLC39A4 Seb Lunke Marked gene: SLC39A4 as ready
Genomic newborn screening: BabyScreen+ v0.1335 SLC39A4 Seb Lunke Gene: slc39a4 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1335 SLC39A4 Seb Lunke Phenotypes for gene: SLC39A4 were changed from Acrodermatitis enteropathica to Acrodermatitis enteropathica, MIM# 201100
Genomic newborn screening: BabyScreen+ v0.1334 SLC39A4 Seb Lunke Publications for gene: SLC39A4 were set to
Genomic newborn screening: BabyScreen+ v0.1333 SLC39A4 Seb Lunke reviewed gene: SLC39A4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Acrodermatitis enteropathica, MIM# 201100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1333 SLC37A4 Seb Lunke Marked gene: SLC37A4 as ready
Genomic newborn screening: BabyScreen+ v0.1333 SLC37A4 Seb Lunke Gene: slc37a4 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1333 SLC37A4 Seb Lunke Phenotypes for gene: SLC37A4 were changed from Glycogen storage disease Ib, MIM#232220 to Glycogen storage disease Ib, MIM# 232220; Glycogen storage disease Ic, MIM# 232240; Congenital disorder of glycosylation, type IIw, MIM# 619525
Genomic newborn screening: BabyScreen+ v0.1332 SLC37A4 Seb Lunke Mode of inheritance for gene: SLC37A4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1331 SLC37A4 Seb Lunke Deleted their comment
Genomic newborn screening: BabyScreen+ v0.1331 SLC37A4 Seb Lunke edited their review of gene: SLC37A4: Added comment: Established gene-disease association.

Childhood onset, metabolic disorder

Treatment: corn starch, nighttime intragastric continuous glucose infusion, allopurinol, statin, granulocyte-colony stimulating factor (G-CSF), empagliflozin

Non-genetic confirmatory test: no; Changed phenotypes: Glycogen storage disease Ib, MIM# 232220, Glycogen storage disease Ic, MIM# 232240, Congenital disorder of glycosylation, type IIw, MIM# 619525
Genomic newborn screening: BabyScreen+ v0.1331 SLC37A4 Seb Lunke reviewed gene: SLC37A4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease Ib, MIM# 232220, Glycogen storage disease Ic M232240; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1331 SLC35D1 Seb Lunke Marked gene: SLC35D1 as ready
Genomic newborn screening: BabyScreen+ v0.1331 SLC35D1 Seb Lunke Gene: slc35d1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1331 SLC35D1 Seb Lunke Phenotypes for gene: SLC35D1 were changed from Schneckenbecken dysplasia to Schneckenbecken dysplasia 269250, MONDO:0010013
Genomic newborn screening: BabyScreen+ v0.1330 SLC35D1 Seb Lunke Classified gene: SLC35D1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1330 SLC35D1 Seb Lunke Gene: slc35d1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1329 SLC35D1 Seb Lunke reviewed gene: SLC35D1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Schneckenbecken dysplasia 269250, MONDO:0010013; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.1329 SLC34A2 Seb Lunke Marked gene: SLC34A2 as ready
Genomic newborn screening: BabyScreen+ v0.1329 SLC34A2 Seb Lunke Gene: slc34a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1329 SLC34A2 Seb Lunke Phenotypes for gene: SLC34A2 were changed from Pulmonary alveolar microlithiasis to Pulmonary alveolar microlithiasis, MIM# 265100
Genomic newborn screening: BabyScreen+ v0.1328 SLC34A2 Seb Lunke Classified gene: SLC34A2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1328 SLC34A2 Seb Lunke Gene: slc34a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1327 SLC34A2 Seb Lunke reviewed gene: SLC34A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pulmonary alveolar microlithiasis, MIM# 265100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1327 SLC2A10 Seb Lunke Marked gene: SLC2A10 as ready
Genomic newborn screening: BabyScreen+ v0.1327 SLC2A10 Seb Lunke Gene: slc2a10 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1327 SLC2A10 Seb Lunke Phenotypes for gene: SLC2A10 were changed from Arterial tortuosity syndrome to Arterial tortuosity syndrome MIM#208050
Genomic newborn screening: BabyScreen+ v0.1326 SLC2A10 Seb Lunke Classified gene: SLC2A10 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1326 SLC2A10 Seb Lunke Gene: slc2a10 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1325 SLC2A10 Seb Lunke reviewed gene: SLC2A10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Arterial tortuosity syndrome MIM#208050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1325 SLC2A1 Seb Lunke Marked gene: SLC2A1 as ready
Genomic newborn screening: BabyScreen+ v0.1325 SLC2A1 Seb Lunke Gene: slc2a1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1325 SLC2A1 Seb Lunke Added comment: Comment on mode of inheritance: Review if bi-allelic form is indeed relevant for NBS
Genomic newborn screening: BabyScreen+ v0.1325 SLC2A1 Seb Lunke Mode of inheritance for gene: SLC2A1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1324 SLC2A1 Seb Lunke Mode of inheritance for gene: SLC2A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1323 SLC2A1 Seb Lunke reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: GLUT1 deficiency syndrome 1, infantile onset, severe, MIM#606777, Dystonia 9, MIM#601042, GLUT1 deficiency syndrome 2, childhood onset, MIM#612126; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1323 SLC27A4 Seb Lunke Marked gene: SLC27A4 as ready
Genomic newborn screening: BabyScreen+ v0.1323 SLC27A4 Seb Lunke Gene: slc27a4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1323 SLC27A4 Seb Lunke Phenotypes for gene: SLC27A4 were changed from Ichthyosis prematurity syndrome to Ichthyosis prematurity syndrome, MIM#608649
Genomic newborn screening: BabyScreen+ v0.1322 SLC27A4 Seb Lunke Publications for gene: SLC27A4 were set to
Genomic newborn screening: BabyScreen+ v0.1321 SLC27A4 Seb Lunke Classified gene: SLC27A4 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1321 SLC27A4 Seb Lunke Gene: slc27a4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1320 SLC27A4 Seb Lunke reviewed gene: SLC27A4: Rating: RED; Mode of pathogenicity: None; Publications: 20301593; Phenotypes: Ichthyosis prematurity syndrome, MIM#608649; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1320 SLC26A4 Seb Lunke Marked gene: SLC26A4 as ready
Genomic newborn screening: BabyScreen+ v0.1320 SLC26A4 Seb Lunke Gene: slc26a4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1320 SLC26A4 Seb Lunke Phenotypes for gene: SLC26A4 were changed from Pendred syndrome to Pendred syndrome, MIM #274600
Genomic newborn screening: BabyScreen+ v0.1319 SLC26A4 Seb Lunke Publications for gene: SLC26A4 were set to
Genomic newborn screening: BabyScreen+ v0.1318 SLC26A4 Seb Lunke Classified gene: SLC26A4 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1318 SLC26A4 Seb Lunke Gene: slc26a4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1317 SLC26A4 Seb Lunke Tag for review tag was added to gene: SLC26A4.
Genomic newborn screening: BabyScreen+ v0.1317 SLC26A4 Seb Lunke reviewed gene: SLC26A4: Rating: RED; Mode of pathogenicity: None; Publications: 20301640; Phenotypes: Pendred syndrome, MIM#274600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1317 SLC39A7 Seb Lunke Marked gene: SLC39A7 as ready
Genomic newborn screening: BabyScreen+ v0.1317 SLC39A7 Seb Lunke Gene: slc39a7 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1317 SLC39A7 Seb Lunke Tag for review tag was added to gene: SLC39A7.
Genomic newborn screening: BabyScreen+ v0.1317 SLC39A7 Seb Lunke Classified gene: SLC39A7 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1317 SLC39A7 Seb Lunke Gene: slc39a7 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1316 SLC39A7 Seb Lunke gene: SLC39A7 was added
gene: SLC39A7 was added to gNBS. Sources: Literature
Mode of inheritance for gene: SLC39A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A7 were set to 30718914
Phenotypes for gene: SLC39A7 were set to Agammaglobulinaemia 9, autosomal recessive, MIM# 619693
Added comment: Established gene-disease association.

Childhood onset, primary immunodeficiency

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

Non-genetic confirmatory test: immunoglobulin levels, T and B Lymphocyte and Natural Killer Cell Profile
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.1315 SLC35C1 Seb Lunke Marked gene: SLC35C1 as ready
Genomic newborn screening: BabyScreen+ v0.1315 SLC35C1 Seb Lunke Gene: slc35c1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1315 SLC35C1 Seb Lunke Phenotypes for gene: SLC35C1 were changed from Congenital disorder of glycosylation 2c to Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953
Genomic newborn screening: BabyScreen+ v0.1314 SLC35C1 Seb Lunke Publications for gene: SLC35C1 were set to
Genomic newborn screening: BabyScreen+ v0.1313 SLC35C1 Seb Lunke Classified gene: SLC35C1 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1313 SLC35C1 Seb Lunke Gene: slc35c1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1312 SLC35C1 Seb Lunke Tag for review tag was added to gene: SLC35C1.
Genomic newborn screening: BabyScreen+ v0.1312 SLC35C1 Seb Lunke reviewed gene: SLC35C1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29702557; Phenotypes: Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1312 SLC35A2 Seb Lunke Marked gene: SLC35A2 as ready
Genomic newborn screening: BabyScreen+ v0.1312 SLC35A2 Seb Lunke Gene: slc35a2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1312 SLC35A2 Seb Lunke Phenotypes for gene: SLC35A2 were changed from Early-onset epileptic encephalopathy to Congenital disorder of glycosylation, type IIm, MIM #300896
Genomic newborn screening: BabyScreen+ v0.1311 SLC35A2 Seb Lunke Publications for gene: SLC35A2 were set to
Genomic newborn screening: BabyScreen+ v0.1310 SLC35A2 Seb Lunke Classified gene: SLC35A2 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1310 SLC35A2 Seb Lunke Gene: slc35a2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1309 SLC35A2 Seb Lunke Tag for review tag was added to gene: SLC35A2.
Genomic newborn screening: BabyScreen+ v0.1309 SLC35A2 Seb Lunke reviewed gene: SLC35A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32103184; Phenotypes: Congenital disorder of glycosylation, type IIm, MIM #300896; 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+ v0.1309 SLC30A10 Seb Lunke Marked gene: SLC30A10 as ready
Genomic newborn screening: BabyScreen+ v0.1309 SLC30A10 Seb Lunke Gene: slc30a10 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1309 SLC30A10 Seb Lunke Classified gene: SLC30A10 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1309 SLC30A10 Seb Lunke Gene: slc30a10 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1308 SLC30A10 Seb Lunke gene: SLC30A10 was added
gene: SLC30A10 was added to gNBS. Sources: Literature
for review tags were added to gene: SLC30A10.
Mode of inheritance for gene: SLC30A10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC30A10 were set to 31089831
Phenotypes for gene: SLC30A10 were set to Hypermanganesemia with dystonia 1, MIM# 613280
Review for gene: SLC30A10 was set to GREEN
Added comment: Established gene-disease association.

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

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

Non-genetic confirmatory test: Mn level
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.1307 SLC39A14 Seb Lunke Marked gene: SLC39A14 as ready
Genomic newborn screening: BabyScreen+ v0.1307 SLC39A14 Seb Lunke Gene: slc39a14 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1307 SLC39A14 Seb Lunke Tag for review tag was added to gene: SLC39A14.
Genomic newborn screening: BabyScreen+ v0.1307 SLC39A14 Seb Lunke Classified gene: SLC39A14 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1307 SLC39A14 Seb Lunke Gene: slc39a14 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1306 SLC39A14 Seb Lunke gene: SLC39A14 was added
gene: SLC39A14 was added to gNBS. Sources: Literature
Mode of inheritance for gene: SLC39A14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A14 were set to 31089831
Phenotypes for gene: SLC39A14 were set to Hypermanganesemia with dystonia 2, MIM# 617013
Review for gene: SLC39A14 was set to AMBER
Added comment: Established gene-disease association.

Childhood onset, multi-system disorder

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

Non-genetic confirmatory test: Mn level
Sources: Literature
Mendeliome v1.552 CLDN5 Suliman Khan reviewed gene: CLDN5: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 36477332; Phenotypes: seizures, developmental delay, microcephaly, brain calcifications; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v1.172 CLDN5 Suliman Khan gene: CLDN5 was added
gene: CLDN5 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: CLDN5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CLDN5 were set to PMID: 36477332
Phenotypes for gene: CLDN5 were set to seizures; developmental delay; microcephaly; brain calcifications
Penetrance for gene: CLDN5 were set to Complete
Mode of pathogenicity for gene: CLDN5 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: CLDN5 was set to GREEN
Added comment: PMID: 36477332 identified de novo heterozygous missense variants in CLDN5 in fifteen unrelated patients who presented with a shared constellation of features including developmental delay, seizures (primarily infantile onset focal epilepsy), microcephaly and a recognizable pattern of pontine atrophy and brain calcifications.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5127 CLDN5 Suliman Khan gene: CLDN5 was added
gene: CLDN5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: CLDN5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CLDN5 were set to PMID: 36477332
Phenotypes for gene: CLDN5 were set to seizures; developmental delay; microcephaly; brain calcifications
Penetrance for gene: CLDN5 were set to Complete
Mode of pathogenicity for gene: CLDN5 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: CLDN5 was set to GREEN
Added comment: PMID: 36477332 identified de novo heterozygous missense variants in CLDN5 in fifteen unrelated patients who presented with a shared constellation of features including developmental delay, seizures (primarily infantile onset focal epilepsy), microcephaly and a recognizable pattern of pontine atrophy and brain calcifications.
Sources: Literature
Genetic Epilepsy v0.1817 CLDN5 Suliman Khan gene: CLDN5 was added
gene: CLDN5 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CLDN5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CLDN5 were set to PMID: 36477332
Phenotypes for gene: CLDN5 were set to seizures; developmental delay; microcephaly; brain calcifications
Penetrance for gene: CLDN5 were set to Complete
Mode of pathogenicity for gene: CLDN5 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: CLDN5 was set to GREEN
Added comment: PMID: 36477332 identified de novo heterozygous missense variants in CLDN5 in fifteen unrelated patients who presented with a shared constellation of features including developmental delay, seizures (primarily infantile onset focal epilepsy), microcephaly and a recognizable pattern of pontine atrophy and brain calcifications.
Sources: Literature
Brain Calcification v1.18 CLDN5 Suliman Khan reviewed gene: CLDN5: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 36477332; Phenotypes: seizures, developmental delay, microcephaly, brain calcifications; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5127 BUB1B Zornitza Stark Marked gene: BUB1B as ready
Intellectual disability syndromic and non-syndromic v0.5127 BUB1B Zornitza Stark Gene: bub1b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5127 BUB1B Zornitza Stark Phenotypes for gene: BUB1B were changed from to Mosaic variegated aneuploidy syndrome 1, MIM# 257300
Intellectual disability syndromic and non-syndromic v0.5126 BUB1B Zornitza Stark Publications for gene: BUB1B were set to
Intellectual disability syndromic and non-syndromic v0.5125 BUB1B Zornitza Stark Mode of inheritance for gene: BUB1B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5124 BUB1B Zornitza Stark reviewed gene: BUB1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mosaic variegated aneuploidy syndrome 1, MIM# 257300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5124 BUB1B Liyan Song reviewed gene: BUB1B: Rating: AMBER; Mode of pathogenicity: None; Publications: 21190457, 15475955, 15098245; Phenotypes: Mosaic variegated aneuploidy syndrome 1, MIM: #257300, Premature chromatid separation trait, MIM: #176430; Mode of inheritance: Other
Genomic newborn screening: BabyScreen+ v0.1305 GLA Zornitza Stark commented on gene: GLA: For review: screen only for males or include both?
Genomic newborn screening: BabyScreen+ v0.1305 GLA Zornitza Stark Marked gene: GLA as ready
Genomic newborn screening: BabyScreen+ v0.1305 GLA Zornitza Stark Gene: gla has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1305 GLA Zornitza Stark Phenotypes for gene: GLA were changed from Fabry disease to Fabry disease (MIM# 301500)
Genomic newborn screening: BabyScreen+ v0.1304 GLA Zornitza Stark Publications for gene: GLA were set to
Genomic newborn screening: BabyScreen+ v0.1303 GLA Zornitza Stark Tag treatable tag was added to gene: GLA.
Tag metabolic tag was added to gene: GLA.
Genomic newborn screening: BabyScreen+ v0.1303 GLA Zornitza Stark reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fabry disease (MIM# 301500); 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+ v0.1303 GGCX Zornitza Stark reviewed gene: GGCX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Vitamin K-dependent clotting factors, combined deficiency of, 1 MIM# 277450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1303 GGCX Zornitza Stark Marked gene: GGCX as ready
Genomic newborn screening: BabyScreen+ v0.1303 GGCX Zornitza Stark Gene: ggcx has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1303 GGCX Zornitza Stark Publications for gene: GGCX were set to
Genomic newborn screening: BabyScreen+ v0.1302 GGCX Zornitza Stark Tag treatable tag was added to gene: GGCX.
Tag haematological tag was added to gene: GGCX.
Genomic newborn screening: BabyScreen+ v0.1302 GNPTG Zornitza Stark Marked gene: GNPTG as ready
Genomic newborn screening: BabyScreen+ v0.1302 GNPTG Zornitza Stark Gene: gnptg has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1302 GNPTG Zornitza Stark Phenotypes for gene: GNPTG were changed from Mucolipidosis III gamma to Mucolipidosis III gamma, MIM# 252605
Genomic newborn screening: BabyScreen+ v0.1301 GNPTG Zornitza Stark Publications for gene: GNPTG were set to
Genomic newborn screening: BabyScreen+ v0.1300 GNPTG Zornitza Stark Classified gene: GNPTG as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1300 GNPTG Zornitza Stark Gene: gnptg has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1299 GNPTG Zornitza Stark reviewed gene: GNPTG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucolipidosis III gamma, MIM# 252605; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1299 GLUD1 Zornitza Stark Tag treatable tag was added to gene: GLUD1.
Tag endocrine tag was added to gene: GLUD1.
Genomic newborn screening: BabyScreen+ v0.1299 GLUD1 Zornitza Stark Marked gene: GLUD1 as ready
Genomic newborn screening: BabyScreen+ v0.1299 GLUD1 Zornitza Stark Gene: glud1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1299 GLUD1 Zornitza Stark Publications for gene: GLUD1 were set to
Genomic newborn screening: BabyScreen+ v0.1298 HCFC1 Zornitza Stark Marked gene: HCFC1 as ready
Genomic newborn screening: BabyScreen+ v0.1298 HCFC1 Zornitza Stark Gene: hcfc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1298 HCFC1 Zornitza Stark Publications for gene: HCFC1 were set to
Genomic newborn screening: BabyScreen+ v0.1297 HCFC1 Zornitza Stark Mode of inheritance for gene: HCFC1 was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1296 HCFC1 Zornitza Stark Classified gene: HCFC1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1296 HCFC1 Zornitza Stark Gene: hcfc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1295 HNF1A Zornitza Stark Marked gene: HNF1A as ready
Genomic newborn screening: BabyScreen+ v0.1295 HNF1A Zornitza Stark Gene: hnf1a has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1295 HNF1A Zornitza Stark Classified gene: HNF1A as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1295 HNF1A Zornitza Stark Gene: hnf1a has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1294 HNF1A Zornitza Stark Tag treatable tag was added to gene: HNF1A.
Tag endocrine tag was added to gene: HNF1A.
Genomic newborn screening: BabyScreen+ v0.1294 HNF1A Zornitza Stark reviewed gene: HNF1A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: MODY, type III , MIM#600496; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1294 HNF4A Zornitza Stark Marked gene: HNF4A as ready
Genomic newborn screening: BabyScreen+ v0.1294 HNF4A Zornitza Stark Gene: hnf4a has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1294 HNF4A Zornitza Stark Phenotypes for gene: HNF4A were changed from Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, MIM# 616026; Hypoglycaemia, hyperinsulinaemic, MIM#125850 to Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, MIM# 616026; Hypoglycaemia, hyperinsulinaemic, MIM#125850; MODY, type I, OMIM # 125850
Genomic newborn screening: BabyScreen+ v0.1293 HNF4A Zornitza Stark Classified gene: HNF4A as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1293 HNF4A Zornitza Stark Gene: hnf4a has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1292 HNF4A Zornitza Stark Tag for review tag was added to gene: HNF4A.
Tag endocrine tag was added to gene: HNF4A.
Genomic newborn screening: BabyScreen+ v0.1292 HNF4A Zornitza Stark reviewed gene: HNF4A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM #616026, MODY, type I, OMIM # 125850; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1292 HOMER2 Zornitza Stark Marked gene: HOMER2 as ready
Genomic newborn screening: BabyScreen+ v0.1292 HOMER2 Zornitza Stark Gene: homer2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1292 HOMER2 Zornitza Stark Phenotypes for gene: HOMER2 were changed from Autosomal dominant non syndromic deafness to Deafness, autosomal dominant 68, MIM# 616707
Genomic newborn screening: BabyScreen+ v0.1291 HOMER2 Zornitza Stark Classified gene: HOMER2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1291 HOMER2 Zornitza Stark Gene: homer2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1290 HOMER2 Zornitza Stark reviewed gene: HOMER2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 68, MIM# 616707; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1290 HPS1 Zornitza Stark Marked gene: HPS1 as ready
Genomic newborn screening: BabyScreen+ v0.1290 HPS1 Zornitza Stark Gene: hps1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1290 HPS1 Zornitza Stark Phenotypes for gene: HPS1 were changed from Hermansky-Pudlak syndrome 1 to Hermansky-Pudlak syndrome 1, MIM# 203300
Genomic newborn screening: BabyScreen+ v0.1289 HPS1 Zornitza Stark Classified gene: HPS1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1289 HPS1 Zornitza Stark Gene: hps1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1288 HPS1 Zornitza Stark reviewed gene: HPS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hermansky-Pudlak syndrome 1, MIM# 203300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1288 HPS3 Zornitza Stark Marked gene: HPS3 as ready
Genomic newborn screening: BabyScreen+ v0.1288 HPS3 Zornitza Stark Gene: hps3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1288 HPS3 Zornitza Stark Phenotypes for gene: HPS3 were changed from Hermansky-Pudlak syndrome 3 to Hermansky-Pudlak syndrome 3, MIM# 614072
Genomic newborn screening: BabyScreen+ v0.1287 HPS3 Zornitza Stark Classified gene: HPS3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1287 HPS3 Zornitza Stark Gene: hps3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1286 HPS3 Zornitza Stark reviewed gene: HPS3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hermansky-Pudlak syndrome 3, MIM# 614072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1286 HPS4 Zornitza Stark Marked gene: HPS4 as ready
Genomic newborn screening: BabyScreen+ v0.1286 HPS4 Zornitza Stark Gene: hps4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1286 HPS4 Zornitza Stark Phenotypes for gene: HPS4 were changed from Hermansky-Pudlak syndrome 4 to Hermansky-Pudlak syndrome 4, MIM# 614073
Genomic newborn screening: BabyScreen+ v0.1285 HPS4 Zornitza Stark Classified gene: HPS4 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1285 HPS4 Zornitza Stark Gene: hps4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1284 HPS4 Zornitza Stark reviewed gene: HPS4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hermansky-Pudlak syndrome 4, MIM# 614073; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.552 AMT Xinyu Zhang reviewed gene: AMT: Rating: GREEN; Mode of pathogenicity: None; Publications: 35646099, 25231368, 27362913; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1284 HPS5 Zornitza Stark Marked gene: HPS5 as ready
Genomic newborn screening: BabyScreen+ v0.1284 HPS5 Zornitza Stark Gene: hps5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1284 HPS5 Zornitza Stark Phenotypes for gene: HPS5 were changed from Hermansky-Pudlak syndrome 5 to Hermansky-Pudlak syndrome 5 (MIM#614074)
Genomic newborn screening: BabyScreen+ v0.1283 HPS5 Zornitza Stark Classified gene: HPS5 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1283 HPS5 Zornitza Stark Gene: hps5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1282 HPS5 Zornitza Stark reviewed gene: HPS5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hermansky-Pudlak syndrome 5 (MIM#614074); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1282 PIGA Zornitza Stark Marked gene: PIGA as ready
Genomic newborn screening: BabyScreen+ v0.1282 PIGA Zornitza Stark Gene: piga has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1282 PIGA Zornitza Stark Classified gene: PIGA as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1282 PIGA Zornitza Stark Gene: piga has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1281 PIGA Zornitza Stark reviewed gene: PIGA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with epilepsy and haemochromatosis, MIM# 301072; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1281 HSD17B10 Zornitza Stark Marked gene: HSD17B10 as ready
Genomic newborn screening: BabyScreen+ v0.1281 HSD17B10 Zornitza Stark Gene: hsd17b10 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1281 HSD17B10 Zornitza Stark Phenotypes for gene: HSD17B10 were changed from 17-beta-hydroxysteroid dehydrogenase X deficiency to HSD10 mitochondrial disease, MIM# 300438
Genomic newborn screening: BabyScreen+ v0.1280 HSD17B10 Zornitza Stark Publications for gene: HSD17B10 were set to
Genomic newborn screening: BabyScreen+ v0.1279 HSD17B10 Zornitza Stark Classified gene: HSD17B10 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1279 HSD17B10 Zornitza Stark Gene: hsd17b10 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1278 HSD17B10 Zornitza Stark reviewed gene: HSD17B10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: HSD10 mitochondrial disease, MIM# 300438; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1278 HPRT1 Zornitza Stark Marked gene: HPRT1 as ready
Genomic newborn screening: BabyScreen+ v0.1278 HPRT1 Zornitza Stark Gene: hprt1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1278 HPRT1 Zornitza Stark Phenotypes for gene: HPRT1 were changed from Lesch-Nyhan syndrome 1 to Lesch-Nyhan syndrome, MIM# 300322
Genomic newborn screening: BabyScreen+ v0.1277 HPRT1 Zornitza Stark Publications for gene: HPRT1 were set to
Genomic newborn screening: BabyScreen+ v0.1276 HPRT1 Zornitza Stark Tag for review tag was added to gene: HPRT1.
Genomic newborn screening: BabyScreen+ v0.1276 HPRT1 Zornitza Stark Classified gene: HPRT1 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1276 HPRT1 Zornitza Stark Gene: hprt1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1275 HPRT1 Zornitza Stark changed review comment from: Uncertain if these are symptomatic treatments.; to: Uncertain if these are essentially symptomatic treatments.
Genomic newborn screening: BabyScreen+ v0.1275 HPRT1 Zornitza Stark commented on gene: HPRT1: Uncertain if these are symptomatic treatments.
Genomic newborn screening: BabyScreen+ v0.1275 HPRT1 Zornitza Stark reviewed gene: HPRT1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Lesch-Nyhan syndrome, MIM# 300322; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1275 HGD Zornitza Stark Marked gene: HGD as ready
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
Intellectual disability syndromic and non-syndromic v0.5124 KIF26A Zornitza Stark Phenotypes for gene: KIF26A were changed from Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156 to Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156
Intellectual disability syndromic and non-syndromic v0.5124 KIF26A Zornitza Stark Phenotypes for gene: KIF26A were changed from Cerebral malformation MONDO:0016054, KIF26-related to Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156
Intellectual disability syndromic and non-syndromic v0.5123 KIF26A Zornitza Stark edited their review of gene: KIF26A: Changed phenotypes: Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156
Mendeliome v1.552 KIF26A Zornitza Stark Phenotypes for gene: KIF26A were changed from Cerebral malformation MONDO:0016054, KIF26-related to Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156
Mendeliome v1.551 KIF26A Zornitza Stark edited their review of gene: KIF26A: Changed phenotypes: Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156
Polymicrogyria and Schizencephaly v0.183 KIF26A Zornitza Stark Phenotypes for gene: KIF26A were changed from Cerebral malformation MONDO:0016054, KIF26-related to Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156
Polymicrogyria and Schizencephaly v0.182 KIF26A Zornitza Stark edited their review of gene: KIF26A: Changed phenotypes: Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156
Mendeliome v1.551 ZFP36L1 Zornitza Stark Phenotypes for gene: ZFP36L1 were changed from to Oocyte maturation defect 13, MIM# 620154
Mendeliome v1.550 ZFP36L1 Zornitza Stark Publications for gene: ZFP36L1 were set to
Mendeliome v1.549 ZFP36L1 Zornitza Stark Mode of inheritance for gene: ZFP36L1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.548 ZFP36L1 Zornitza Stark reviewed gene: ZFP36L1: Rating: RED; Mode of pathogenicity: None; Publications: 34611029, 22367205; Phenotypes: Oocyte maturation defect 13, MIM# 620154; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v1.172 BUB1B Liyan Song reviewed gene: BUB1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 21190457, 15475955, 15098245; Phenotypes: Mosaic variegated aneuploidy syndrome 1, MIM: #257300, Premature chromatid separation trait, MIM: #176430; Mode of inheritance: Other
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
Cholestasis v0.239 HSD3B7 Zornitza Stark Marked gene: HSD3B7 as ready
Cholestasis v0.239 HSD3B7 Zornitza Stark Gene: hsd3b7 has been classified as Green List (High Evidence).
Cholestasis v0.239 HSD3B7 Zornitza Stark Phenotypes for gene: HSD3B7 were changed from to Bile acid synthesis defect, congenital, 1 MIM#607765
Cholestasis v0.238 HSD3B7 Zornitza Stark Mode of inheritance for gene: HSD3B7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.237 HSD3B7 Zornitza Stark Tag treatable tag was added to gene: HSD3B7.
Cholestasis v0.237 HSD3B7 Zornitza Stark reviewed gene: HSD3B7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bile acid synthesis defect, congenital, 1 MIM#607765; 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
Mendeliome v1.548 HSPG2 Zornitza Stark Phenotypes for gene: HSPG2 were changed from Dyssegmental dysplasia, Silverman-Handmaker type; Schwartz-Jampel syndrome, type 1 to Schwartz-Jampel syndrome, type 1, MIM# 255800; MONDO:0009717; Dyssegmental dysplasia, Silverman-Handmaker type, MIM# 224410; MONDO:0009140
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
Inflammatory bowel disease v0.84 NLRC4 Peter McNaughton gene: NLRC4 was added
gene: NLRC4 was added to Inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: NLRC4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NLRC4 were set to PMID: 25217960
Phenotypes for gene: NLRC4 were set to Infantile onset enterocolitis and autoinflammation
Mode of pathogenicity for gene: NLRC4 was set to Other
Review for gene: NLRC4 was set to AMBER
Added comment: Infant presenting at 1 week of life with secretory diarrhea and fever with p.Val341Ala variant. Cellular model demonstrating gain of function
Sources: Literature
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
Mendeliome v1.547 IL2RB Zornitza Stark Tag immunological was removed from gene: IL2RB.
Disorders of immune dysregulation v0.163 IL2RB Zornitza Stark Tag treatable tag was added to gene: IL2RB.
Disorders of immune dysregulation v0.163 IL2RB Zornitza Stark changed review comment from: Five families reported.
Sources: Expert list; to: Five families reported.

Affected individuals present in infancy with features of both abnormal activation of certain immune signaling pathways, resulting in lymphoid proliferation, dermatitis, enteropathy, and hypergammaglobulinemia, as well as features of immunodeficiency, such as recurrent infections and increased susceptibility to viral infections, especially CMV. Laboratory studies show increased NK cells that show impaired differentiation, as well as abnormal T cell populations or responses. Some patients may die in childhood; hematopoietic bone marrow transplantation is curative.

Sources: Expert list
Mendeliome v1.547 IL2RB Zornitza Stark Tag treatable tag was added to gene: IL2RB.
Tag immunological tag was added to gene: IL2RB.
Mendeliome v1.547 IL2RB Zornitza Stark changed review comment from: Five families reported.
Sources: Expert list; to: Five families reported.

Affected individuals present in infancy with features of both abnormal activation of certain immune signaling pathways, resulting in lymphoid proliferation, dermatitis, enteropathy, and hypergammaglobulinemia, as well as features of immunodeficiency, such as recurrent infections and increased susceptibility to viral infections, especially CMV. Laboratory studies show increased NK cells that show impaired differentiation, as well as abnormal T cell populations or responses. Some patients may die in childhood; hematopoietic bone marrow transplantation is curative.

Sources: Expert list
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
Intellectual disability syndromic and non-syndromic v0.5123 CACNA2D1 Zornitza Stark Phenotypes for gene: CACNA2D1 were changed from Developmental and epileptic encephalopathy disorder MONDO:0100062 CACNA2D1-related to Developmental and epileptic encephalopathy 110, MIM# 620149
Intellectual disability syndromic and non-syndromic v0.5122 CACNA2D1 Zornitza Stark reviewed gene: CACNA2D1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 110, MIM# 620149; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1817 CACNA2D1 Zornitza Stark Phenotypes for gene: CACNA2D1 were changed from Developmental and epileptic encephalopathy disorder MONDO:0100062 CACNA2D1-related to Developmental and epileptic encephalopathy 110, MIM# 620149
Mendeliome v1.547 CACNA2D1 Zornitza Stark Phenotypes for gene: CACNA2D1 were changed from Developmental and epileptic encephalopathy disorder MONDO:0100062 CACNA2D1-related to Developmental and epileptic encephalopathy 110, MIM# 620149
Intellectual disability syndromic and non-syndromic v0.5122 FZR1 Zornitza Stark Marked gene: FZR1 as ready
Intellectual disability syndromic and non-syndromic v0.5122 FZR1 Zornitza Stark Gene: fzr1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5122 FZR1 Zornitza Stark Classified gene: FZR1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5122 FZR1 Zornitza Stark Gene: fzr1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5121 FZR1 Zornitza Stark gene: FZR1 was added
gene: FZR1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review
Mode of inheritance for gene: FZR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FZR1 were set to 34788397
Phenotypes for gene: FZR1 were set to Developmental and epileptic encephalopathy 109, MIM# 620145
Review for gene: FZR1 was set to GREEN
Added comment: Four unrelated individuals reported with de novo missense variants in this gene. Affected individuals had developmental delay before and concurrent with the onset of seizures. Features included impaired intellectual development with poor speech, ataxic gait, coordination problems, and behavioral abnormalities. Drosophila model supports gene-disease association.
Sources: Expert Review
Genetic Epilepsy v0.1816 FZR1 Zornitza Stark Phenotypes for gene: FZR1 were changed from Developmental and epileptic encephalopathy, FZR1-related, MONDO:0100062 to Developmental and epileptic encephalopathy 109, MIM# 620145
Genetic Epilepsy v0.1815 FZR1 Zornitza Stark reviewed gene: FZR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 109, MIM# 620145; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.546 FZR1 Zornitza Stark Phenotypes for gene: FZR1 were changed from Developmental and epileptic encephalopathy, FZR1-related, MONDO:0100062 to Developmental and epileptic encephalopathy 109, MIM# 620145
Mendeliome v1.545 FZR1 Zornitza Stark reviewed gene: FZR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 109, MIM# 620145; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
Cardiomyopathy_Adult_SuperPanel v1.53 Zornitza Stark List of related panels changed from Cardiomyopathy; HP:0001638 to Cardiomyopathy; HP:0001638; Abnormality of the myocardium; HP:0001637
Cardiomyopathy_Adult_SuperPanel v1.52 Zornitza Stark HPO terms changed from Cardiomyopathy, HP:0001638 to Cardiomyopathy, HP:0001638; Abnormality of the myocardium, HP:0001637
Arrhythmia_SuperPanel v3.11 Zornitza Stark List of related panels changed from to Arrhythmia; HP:0011675
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
Renal Tubulopathies and related disorders v1.0 SLC9A3R1 Zornitza Stark Marked gene: SLC9A3R1 as ready
Renal Tubulopathies and related disorders v1.0 SLC9A3R1 Zornitza Stark Gene: slc9a3r1 has been classified as Red List (Low Evidence).
Renal Tubulopathies and related disorders v1.0 SLC9A3R1 Zornitza Stark Tag refuted tag was added to gene: SLC9A3R1.
Mendeliome v1.545 SLC9A3R1 Zornitza Stark Tag refuted tag was added to gene: SLC9A3R1.
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.
Lysosomal Storage Disorder v1.9 IDS Zornitza Stark Tag treatable tag was added to gene: IDS.
Lysosomal Storage Disorder v1.9 IDS Zornitza Stark Mode of inheritance for gene: IDS was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Lysosomal Storage Disorder v1.8 IDS Zornitza Stark Mode of inheritance for gene: IDS was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Lysosomal Storage Disorder v1.7 IDS Zornitza Stark edited their review of gene: IDS: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v1.545 IDS Zornitza Stark Mode of inheritance for gene: IDS was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v1.544 IDS Zornitza Stark edited their review of gene: IDS: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Craniosynostosis v1.42 IDS Zornitza Stark Mode of inheritance for gene: IDS was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Craniosynostosis v1.41 IDS Zornitza Stark Tag treatable tag was added to gene: IDS.
Craniosynostosis v1.41 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 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
Hypertrophic cardiomyopathy v0.170 RPS6KB1 Zornitza Stark Marked gene: RPS6KB1 as ready
Hypertrophic cardiomyopathy v0.170 RPS6KB1 Zornitza Stark Gene: rps6kb1 has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy v0.170 RPS6KB1 Zornitza Stark Classified gene: RPS6KB1 as Green List (high evidence)
Hypertrophic cardiomyopathy v0.170 RPS6KB1 Zornitza Stark Gene: rps6kb1 has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy v0.169 RPS6KB1 Zornitza Stark gene: RPS6KB1 was added
gene: RPS6KB1 was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature
Mode of inheritance for gene: RPS6KB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPS6KB1 were set to 34916228
Phenotypes for gene: RPS6KB1 were set to Hypertrophic cardiomyopathy, MONDO:0005045, RPS6KB1-related
Review for gene: RPS6KB1 was set to GREEN
Added comment: Jain et al. 2022 (PMID: 34916228) reported on two unrelated HCM families with the same heterozygous missense RPS6KB1 variant (p.G47W), and subsequently three further unrelated probands with HCM harbouring distinct heterozygous variants (p.Q49K, p.Y62H, respectively). Variants segregated with disease, were predicted pathogenic by silico analyses and were ultrarare or absent in population databases. Functional studies in the HL-1 (mouse cardiomyocytes) cells showed that the patient-specific RPS6KB1 mutant significantly increased cell size and activated rpS6 and ERK1/2 signalling cascades. The relationship between RPS6KB1 and cardiac hypertrophy has also been explored in feline and mice models (PMID: 15226426; 17976640)
Sources: Literature
Mendeliome v1.544 RPS6KB1 Zornitza Stark Marked gene: RPS6KB1 as ready
Mendeliome v1.544 RPS6KB1 Zornitza Stark Gene: rps6kb1 has been classified as Green List (High Evidence).
Mendeliome v1.544 RPS6KB1 Zornitza Stark Phenotypes for gene: RPS6KB1 were changed from Hypertrophic cardiomyopathy to Hypertrophic cardiomyopathy, MONDO:0005045, RPS6KB1-related
Mendeliome v1.543 RPS6KB1 Zornitza Stark Classified gene: RPS6KB1 as Green List (high evidence)
Mendeliome v1.543 RPS6KB1 Zornitza Stark Gene: rps6kb1 has been classified as Green List (High Evidence).
Mendeliome v1.542 TNNC2 Zornitza Stark Marked gene: TNNC2 as ready
Mendeliome v1.542 TNNC2 Zornitza Stark Gene: tnnc2 has been classified as Green List (High Evidence).
Mendeliome v1.542 TNNC2 Zornitza Stark Classified gene: TNNC2 as Green List (high evidence)
Mendeliome v1.542 TNNC2 Zornitza Stark Gene: tnnc2 has been classified as Green List (High Evidence).
Mendeliome v1.541 TNNC2 Zornitza Stark gene: TNNC2 was added
gene: TNNC2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TNNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TNNC2 were set to 33755597
Phenotypes for gene: TNNC2 were set to Congenital myopathy, MONDO:0019952, TNNC2-related
Review for gene: TNNC2 was set to GREEN
Added comment: Two families reported: Family 1: 4 individuals, three generations; missense variant p.(Asp34Tyr) Family 2: de novo variant, missense p.(Met79Ile)

Physiological studies in myofibers isolated from patients’ biopsies revealed a markedly reduced force response of the sarcomeres to [Ca2+]. This pathomechanism was further confirmed in experiments in which contractile dysfunction was evoked by replacing TnC in myofibers from healthy control subjects with recombinant, mutant TnC. Conversely, the contractile dysfunction of myofibers from patients was repaired by replacing endogenous, mutant TnC with recombinant, wild-type TnC.

Borderline Green: sufficient segregation in Fam 1 plus de novo status in Fam 2, plus functional data.
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v0.122 POGLUT1 Zornitza Stark Marked gene: POGLUT1 as ready
Muscular dystrophy and myopathy_Paediatric v0.122 POGLUT1 Zornitza Stark Gene: poglut1 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v0.122 POGLUT1 Zornitza Stark Classified gene: POGLUT1 as Amber List (moderate evidence)
Muscular dystrophy and myopathy_Paediatric v0.122 POGLUT1 Zornitza Stark Gene: poglut1 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v0.121 POGLUT1 Zornitza Stark gene: POGLUT1 was added
gene: POGLUT1 was added to Muscular dystrophy_Paediatric. Sources: Literature
Mode of inheritance for gene: POGLUT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POGLUT1 were set to 33861953
Phenotypes for gene: POGLUT1 were set to Muscular dystrophy, MONDO:0020121, POGLUT1-related
Review for gene: POGLUT1 was set to AMBER
Added comment: in addition to adult-onset LGMD R21 (OMIM# 617232), biallelic variants in POGLUT1 gene have been reported in one patient with congenital muscular dystrophy and in two further patients with onset before 3 years of age. The presenting symptom were hypotonia with lower limb proximal weakness after gait acquisition, and further progression with mild weakness, wasting and contractures of the upper limbs, mild facial weakness, ptosis, and nasal voice. weakness was more severe and had faster progression compared to later onset patients. Muscle biopsies show evidence of α-dystroglycan hypoglycosylation. POGLUT1 activity is critical for the Notch signalling pathway, as JAG2.
Sources: Literature
Genetic Epilepsy v0.1815 ASH1L Zornitza Stark Marked gene: ASH1L as ready
Genetic Epilepsy v0.1815 ASH1L Zornitza Stark Gene: ash1l has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1815 ASH1L Zornitza Stark Classified gene: ASH1L as Green List (high evidence)
Genetic Epilepsy v0.1815 ASH1L Zornitza Stark Gene: ash1l has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1814 ASH1L Zornitza Stark gene: ASH1L was added
gene: ASH1L was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: ASH1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ASH1L were set to 34373061; 25961944; 34782621; 32469098
Phenotypes for gene: ASH1L were set to Mental retardation, autosomal dominant 52, MIM#617796
Review for gene: ASH1L was set to GREEN
Added comment: Liu et al 2021 - twin sisters with mild intellectual disability and seizures. WES identified a de novo nonsense variant in exon 3.
In this paper they look at previously reported variants and others reported in patients presenting with a seizure phenotype -Table 2:
p.Glu2143* - autism spectrum disorder (seizure) - ref 7
p.Arg2391His - Intellectual disability (seizure) - ref 7
p.Arg2421* - intellectual disability/developmental delay (seizure) - ref 7
(Ref 7 - Krumm et al, 2015, Nat Genet, 47:582-88).

Krumm et al, 2015 - cohort of patients with myoclonic atonic seizures (MAE) - table 2 shows that 1 patient idenitifed in this cohort (de novo) and that two additional patients were identified in the Iossifov proband (family 13678 - nonsense - can't see anything re epilepsy phenotype) and de rubeis proband (no mention in this paper that they had epilepsy pheno - PMID 25363760) - all de novo (2 nonsense 1 fs)

Qin et al 2021 - The elevated PFC pyramidal neuronal excitability, increased E/I ratio, and excessive synchronised cortical network activity of Ash1L-deficient mice is linked to seizures, which recapitulates the phenotype of some autistic children carrying ASH1L variants.

Tang et al, 2020 - table 3 candidate variants - ASH1L - de novo variant p.Arg1342* - 7 year old male with seizure onset at 6 months refractory to treatment, also mod- severe ID, ASD and ADHD.

3 definite families where de novo nonsense/fs variants have been reported in individuals with an epilepsy phenotype as well as ASD/ ID in the literature, patients reported in decipher with seizure phenotype and ASHIL variant (2 de novo nonsense, 1 de novo fs reported as pathogenic), and mouse studies support role for ASHIL in epeilepsy phenotype.
Sources: Literature
Severe Combined Immunodeficiency v1.0 JAK3 Zornitza Stark Tag treatable tag was added to gene: JAK3.
Mendeliome v1.540 JAK3 Zornitza Stark Tag treatable tag was added to gene: JAK3.
Regression v0.515 KCTD7 Zornitza Stark Marked gene: KCTD7 as ready
Regression v0.515 KCTD7 Zornitza Stark Gene: kctd7 has been classified as Green List (High Evidence).
Regression v0.515 KCTD7 Zornitza Stark Phenotypes for gene: KCTD7 were changed from to Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726)
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
Regression v0.514 KCTD7 Zornitza Stark Mode of inheritance for gene: KCTD7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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)
Regression v0.513 KCTD7 Zornitza Stark reviewed gene: KCTD7: Rating: GREEN; 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+ v0.1210 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
Combined Immunodeficiency v1.31 CHUK Zornitza Stark Marked gene: CHUK as ready
Combined Immunodeficiency v1.31 CHUK Zornitza Stark Gene: chuk has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.31 CHUK Zornitza Stark Classified gene: CHUK as Amber List (moderate evidence)
Combined Immunodeficiency v1.31 CHUK Zornitza Stark Gene: chuk has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.30 CHUK Zornitza Stark gene: CHUK was added
gene: CHUK was added to Combined Immunodeficiency. Sources: Literature
Mode of inheritance for gene: CHUK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHUK were set to 34533979
Phenotypes for gene: CHUK were set to Combined immunodeficiency, MONDO:0015131, CHUK-related
Review for gene: CHUK was set to AMBER
Added comment: PMID 34533979: single individual reported with homozygous missense variant in this gene and recurrent infections, skeletal abnormalities, absent secondary lymphoid structures, reduced B cell numbers, hypogammaglobulinemia, and lymphocytic infiltration of intestine. Supportive functional data.
Sources: Literature
Mendeliome v1.540 CHUK Zornitza Stark Phenotypes for gene: CHUK were changed from Popliteal pterygium syndrome, Bartsocas-Papas type 2, MIM# 619339; Cocoon syndrome, MIM# 613630; AEC-like syndrome to Combined immunodeficiency, MONDO:0015131, CHUK-related; Popliteal pterygium syndrome, Bartsocas-Papas type 2, MIM# 619339; Cocoon syndrome, MIM# 613630; AEC-like syndrome
Mendeliome v1.539 CHUK Zornitza Stark Publications for gene: CHUK were set to 25691407; 20961246; 10195895; 10195896; 29523099; 28513979
Mendeliome v1.538 CHUK Zornitza Stark edited their review of gene: CHUK: Changed phenotypes: Combined immunodeficiency, MONDO:0015131, CHUK-related, Popliteal pterygium syndrome, Bartsocas-Papas type 2, MIM# 619339, Cocoon syndrome, MIM# 613630, AEC-like syndrome
Mendeliome v1.538 CHUK Zornitza Stark edited their review of gene: CHUK: Added comment: PMID 34533979: single individual reported with homozygous missense variant in this gene and recurrent infections, skeletal abnormalities, absent secondary lymphoid structures, reduced B cell numbers, hypogammaglobulinemia, and lymphocytic infiltration of intestine. Supportive functional data.; Changed publications: 25691407, 20961246, 10195895, 10195896, 29523099, 28513979, 34533979
Susceptibility to Viral Infections v0.108 IRF7 Zornitza Stark Publications for gene: IRF7 were set to 25814066; 15800576
Susceptibility to Viral Infections v0.107 IRF7 Zornitza Stark Classified gene: IRF7 as Green List (high evidence)
Susceptibility to Viral Infections v0.107 IRF7 Zornitza Stark Gene: irf7 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.106 IRF7 Zornitza Stark edited their review of gene: IRF7: Added comment: Additional individuals reported PMIDs 35986347, 35670811: total of 7; Changed rating: GREEN; Changed publications: 25814066, 15800576, 35986347, 35670811
Mendeliome v1.538 IRF7 Zornitza Stark Publications for gene: IRF7 were set to 25814066; 15800576
Mendeliome v1.537 IRF7 Zornitza Stark Classified gene: IRF7 as Green List (high evidence)
Mendeliome v1.537 IRF7 Zornitza Stark Gene: irf7 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.127 IRF7 Zornitza Stark Classified gene: IRF7 as Green List (high evidence)
Defects of intrinsic and innate immunity v0.127 IRF7 Zornitza Stark Gene: irf7 has been classified as Green List (High Evidence).
Mendeliome v1.536 IRF7 Zornitza Stark Classified gene: IRF7 as Green List (high evidence)
Mendeliome v1.536 IRF7 Zornitza Stark Gene: irf7 has been classified as Green List (High Evidence).
Mendeliome v1.535 IRF7 Zornitza Stark edited their review of gene: IRF7: Changed rating: GREEN
Defects of intrinsic and innate immunity v0.126 IRF7 Zornitza Stark edited their review of gene: IRF7: Added comment: Additional individuals reported PMIDs 35986347, 35670811: total of 7; Changed rating: GREEN; Changed publications: 25814066, 15800576, 35986347, 35670811
Mendeliome v1.535 IRF7 Zornitza Stark edited their review of gene: IRF7: Added comment: Additional individuals reported PMIDs 35986347, 35670811: total of 7; Changed publications: 25814066, 15800576, 35986347, 35670811
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
Intellectual disability syndromic and non-syndromic v0.5120 ELP2 Zornitza Stark Marked gene: ELP2 as ready
Intellectual disability syndromic and non-syndromic v0.5120 ELP2 Zornitza Stark Gene: elp2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5120 ELP2 Zornitza Stark Phenotypes for gene: ELP2 were changed from to intellectual disability, autosomal recessive 58 MONDO:0014996
Intellectual disability syndromic and non-syndromic v0.5119 ELP2 Zornitza Stark Publications for gene: ELP2 were set to
Intellectual disability syndromic and non-syndromic v0.5118 ELP2 Zornitza Stark Mode of inheritance for gene: ELP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5117 ELP2 Zornitza Stark reviewed gene: ELP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: intellectual disability, autosomal recessive 58 MONDO:0014996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5117 AMER1 Zornitza Stark Marked gene: AMER1 as ready
Intellectual disability syndromic and non-syndromic v0.5117 AMER1 Zornitza Stark Gene: amer1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5117 AMER1 Zornitza Stark Phenotypes for gene: AMER1 were changed from to Osteopathia striata with cranial sclerosis, OMIM:300373
Intellectual disability syndromic and non-syndromic v0.5116 AMER1 Zornitza Stark Publications for gene: AMER1 were set to
Intellectual disability syndromic and non-syndromic v0.5115 AMER1 Zornitza Stark Mode of inheritance for gene: AMER1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.5114 DLD Zornitza Stark Marked gene: DLD as ready
Intellectual disability syndromic and non-syndromic v0.5114 DLD Zornitza Stark Gene: dld has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5114 DLD Zornitza Stark Phenotypes for gene: DLD were changed from to Dihydrolipoamide dehydrogenase deficiency MIM#246900
Intellectual disability syndromic and non-syndromic v0.5113 DLD Zornitza Stark Publications for gene: DLD were set to
Intellectual disability syndromic and non-syndromic v0.5112 DLD Zornitza Stark Mode of inheritance for gene: DLD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5111 DLD Zornitza Stark reviewed gene: DLD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dihydrolipoamide dehydrogenase deficiency MIM#246900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5111 DHCR24 Zornitza Stark Marked gene: DHCR24 as ready
Intellectual disability syndromic and non-syndromic v0.5111 DHCR24 Zornitza Stark Gene: dhcr24 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5111 DHCR24 Zornitza Stark Phenotypes for gene: DHCR24 were changed from to Desmosterolosis, MIM# 602398
Intellectual disability syndromic and non-syndromic v0.5110 DHCR24 Zornitza Stark Publications for gene: DHCR24 were set to
Intellectual disability syndromic and non-syndromic v0.5109 DHCR24 Zornitza Stark Mode of inheritance for gene: DHCR24 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5108 DOCK8 Zornitza Stark Marked gene: DOCK8 as ready
Intellectual disability syndromic and non-syndromic v0.5108 DOCK8 Zornitza Stark Gene: dock8 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.5108 DOCK8 Zornitza Stark Phenotypes for gene: DOCK8 were changed from to intellectual developmental disorder, autosomal dominant 2, MIM#614113
Intellectual disability syndromic and non-syndromic v0.5107 DOCK8 Zornitza Stark Publications for gene: DOCK8 were set to
Intellectual disability syndromic and non-syndromic v0.5106 DOCK8 Zornitza Stark Mode of inheritance for gene: DOCK8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5105 CDC42 Zornitza Stark Marked gene: CDC42 as ready
Intellectual disability syndromic and non-syndromic v0.5105 CDC42 Zornitza Stark Gene: cdc42 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5105 CDC42 Zornitza Stark Publications for gene: CDC42 were set to
Intellectual disability syndromic and non-syndromic v0.5104 CDC42 Zornitza Stark Phenotypes for gene: CDC42 were changed from to Takenouchi-Kosaki syndrome, MIM#616737
Intellectual disability syndromic and non-syndromic v0.5103 CDC42 Zornitza Stark Mode of inheritance for gene: CDC42 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5102 ALMS1 Zornitza Stark Marked gene: ALMS1 as ready
Intellectual disability syndromic and non-syndromic v0.5102 ALMS1 Zornitza Stark Gene: alms1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5102 ALMS1 Zornitza Stark Phenotypes for gene: ALMS1 were changed from to Alstrom syndrome, MIM# 203800
Intellectual disability syndromic and non-syndromic v0.5101 ALMS1 Zornitza Stark Publications for gene: ALMS1 were set to
Intellectual disability syndromic and non-syndromic v0.5100 ALMS1 Zornitza Stark Mode of inheritance for gene: ALMS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5099 ALMS1 Zornitza Stark reviewed gene: ALMS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alstrom syndrome, MIM# 203800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5099 BLM Zornitza Stark Marked gene: BLM as ready
Intellectual disability syndromic and non-syndromic v0.5099 BLM Zornitza Stark Gene: blm has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.5099 BLM Zornitza Stark Phenotypes for gene: BLM were changed from to Bloom syndrome, MIM# 210900
Intellectual disability syndromic and non-syndromic v0.5098 BLM Zornitza Stark Mode of inheritance for gene: BLM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5097 BLM Zornitza Stark Classified gene: BLM as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.5097 BLM Zornitza Stark Gene: blm has been classified as Red List (Low Evidence).
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).
Intellectual disability syndromic and non-syndromic v0.5096 B3GLCT Zornitza Stark Marked gene: B3GLCT as ready
Intellectual disability syndromic and non-syndromic v0.5096 B3GLCT Zornitza Stark Gene: b3glct has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5096 B3GLCT Zornitza Stark Phenotypes for gene: B3GLCT were changed from to Peters Plus Syndrome (MIM 261540); Peters anomaly; Growth retardation; Brachydactyly; ID
Intellectual disability syndromic and non-syndromic v0.5095 B3GLCT Zornitza Stark Publications for gene: B3GLCT were set to
Intellectual disability syndromic and non-syndromic v0.5094 B3GLCT Zornitza Stark Mode of inheritance for gene: B3GLCT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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).
Intellectual disability syndromic and non-syndromic v0.5093 AP1S1 Zornitza Stark Marked gene: AP1S1 as ready
Intellectual disability syndromic and non-syndromic v0.5093 AP1S1 Zornitza Stark Gene: ap1s1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5093 AP1S1 Zornitza Stark Phenotypes for gene: AP1S1 were changed from to MEDNIK syndrome, MIM# 609313
Intellectual disability syndromic and non-syndromic v0.5092 AP1S1 Zornitza Stark Publications for gene: AP1S1 were set to 30244301; 24754424; 19057675; 23423674
Intellectual disability syndromic and non-syndromic v0.5091 AP1S1 Zornitza Stark Publications for gene: AP1S1 were set to
Intellectual disability syndromic and non-syndromic v0.5090 AP1S1 Zornitza Stark Mode of inheritance for gene: AP1S1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5089 ASAH1 Zornitza Stark Marked gene: ASAH1 as ready
Intellectual disability syndromic and non-syndromic v0.5089 ASAH1 Zornitza Stark Gene: asah1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5089 ASAH1 Zornitza Stark Phenotypes for gene: ASAH1 were changed from to Farber lipogranulomatosis MIM #228000
Intellectual disability syndromic and non-syndromic v0.5088 ASAH1 Zornitza Stark Publications for gene: ASAH1 were set to
Intellectual disability syndromic and non-syndromic v0.5087 ASAH1 Zornitza Stark Mode of inheritance for gene: ASAH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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
Intellectual disability syndromic and non-syndromic v0.5086 DPM1 Zornitza Stark Marked gene: DPM1 as ready
Intellectual disability syndromic and non-syndromic v0.5086 DPM1 Zornitza Stark Gene: dpm1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5086 DPM1 Zornitza Stark Phenotypes for gene: DPM1 were changed from to Congenital disorder of glycosylation, type Ie, MIM# 608799
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
Intellectual disability syndromic and non-syndromic v0.5085 DPM1 Zornitza Stark Publications for gene: DPM1 were set to 10642602; 23856421; 16641202; 15669674; 10642597
Intellectual disability syndromic and non-syndromic v0.5085 DPM1 Zornitza Stark Publications for gene: DPM1 were set to
Intellectual disability syndromic and non-syndromic v0.5084 DPM1 Zornitza Stark Mode of inheritance for gene: DPM1 was changed from Unknown to 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).
Mendeliome v1.535 LIG1 Zornitza Stark Phenotypes for gene: LIG1 were changed from Combined immunodeficiency; Lymphopaenia; Hypogammaglobulinaemia; Recurrent bacterial and viral infections; Growth retardation; Sun sensitivity, radiation sensitivity; Macrocytosis to Immunodeficiency 96, MIM# 619774; Lymphopaenia; Hypogammaglobulinaemia; Recurrent bacterial and viral infections; Growth retardation; Sun sensitivity, radiation sensitivity; Macrocytosis
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
Intellectual disability syndromic and non-syndromic v0.5083 CENPF Zornitza Stark Marked gene: CENPF as ready
Intellectual disability syndromic and non-syndromic v0.5083 CENPF Zornitza Stark Gene: cenpf has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5083 CENPF Zornitza Stark Phenotypes for gene: CENPF were changed from to Stromme syndrome (MIM#243605)
Intellectual disability syndromic and non-syndromic v0.5082 CENPF Zornitza Stark Publications for gene: CENPF were set to
Intellectual disability syndromic and non-syndromic v0.5081 CENPF Zornitza Stark Mode of inheritance for gene: CENPF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.0 NLGN4X Zornitza Stark reviewed gene: NLGN4X: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.5080 NLGN4X Zornitza Stark Classified gene: NLGN4X as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.5080 NLGN4X Zornitza Stark Gene: nlgn4x has been classified as Amber List (Moderate Evidence).
Autism v0.187 NLGN4X Zornitza Stark Marked gene: NLGN4X as ready
Autism v0.187 NLGN4X Zornitza Stark Gene: nlgn4x has been classified as Amber List (Moderate Evidence).
Autism v0.187 NLGN4X Zornitza Stark Classified gene: NLGN4X as Amber List (moderate evidence)
Autism v0.187 NLGN4X Zornitza Stark Gene: nlgn4x has been classified as Amber List (Moderate Evidence).
Autism v0.186 NLGN4X Zornitza Stark reviewed gene: NLGN4X: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked - MIM#300495; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v1.534 NLGN4X Zornitza Stark Marked gene: NLGN4X as ready
Mendeliome v1.534 NLGN4X Zornitza Stark Added comment: Comment when marking as ready: Definitive assessment by ClinGen noted, as well as 'limited' assessments by G2P and Genomics England. Many of the variants are multi-gene deletions; phenotypes are not well delineated, with several individuals not having ID.
Mendeliome v1.534 NLGN4X Zornitza Stark Gene: nlgn4x has been classified as Amber List (Moderate Evidence).
Mendeliome v1.534 NLGN4X Zornitza Stark Publications for gene: NLGN4X were set to 12669065; 18231125; 10071191; 29428674
Mendeliome v1.533 NLGN4X Zornitza Stark Classified gene: NLGN4X as Amber List (moderate evidence)
Mendeliome v1.533 NLGN4X Zornitza Stark Gene: nlgn4x has been classified as Amber List (Moderate Evidence).
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 Downie edited their review of gene: TNFRSF11A: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.1154 TNFRSF11A Lilian Downie 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 Downie 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 Downie 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 Downie 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 Downie edited their review of gene: TNFSF11: Changed rating: RED
Genomic newborn screening: BabyScreen+ v0.1154 TNFSF11 Lilian Downie 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 Downie 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
Autism v0.186 NLGN4X Krithika Murali gene: NLGN4X was added
gene: NLGN4X was added to Autism. Sources: Expert list
Mode of inheritance for gene: NLGN4X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: NLGN4X were set to PMID:26350204; PMID:14963808; PMID:12669065; PMID:23352163; PMID:28263302; PMID:16648374
Phenotypes for gene: NLGN4X were set to Intellectual developmental disorder, X-linked - MIM#300495
Review for gene: NLGN4X was set to GREEN
Added comment: ClinGen ID/Autism GCEP 1/8/2018: Definitive association. Decision was made to lump into X-linked complex neurodevelopmental disorder encompassing autism spectrum disorders, intellectual disability, attention deficit hyperactivity disorder (ADHD), and/or cerebral palsy phenotypes.

Clinvar P/LP SNV's identified through clinical testing entries reviewed:
c.1747C>T (p.Arg583Trp) - dev delay, ASD, ADHD, cardiac defects, dysmorphism
c.625+1G>A - no disease assertion provided (2022 entry)
c.334dup (p.Gln112fs) - no clinical information
c.301C>T (p.Arg101Ter) - 3 entries - x1 ASD susceptibility disease assertion - reported in an individual with BCS1L variant also who had short stature, failure to thrive, rickets, Fanconi syndrome, delayed motor milestones, absent speech, developmental regression, intellectual disability, hypotonia, seizure disorder, gait ataxia, abnormal movements (laughing behavior and tongue protrusion), dysmorphic features, microcephaly, history of seizure disorder.

Decipher - LP c.456C>G; p.Tyr152Ter - Cited in the literature PMID 26350204 - male XY with ID.
Sources: Expert list
Mendeliome v1.532 NLGN4X Krithika Murali reviewed gene: NLGN4X: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:26350204, PMID:14963808, PMID:12669065, PMID:23352163, PMID:28263302, PMID:16648374; Phenotypes: Intellectual developmental disorder, X-linked - MIM#300495; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.5079 NLGN4X Krithika Murali reviewed gene: NLGN4X: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:26350204, PMID:14963808, PMID:12669065, PMID:23352163, PMID:28263302, PMID:16648374; Phenotypes: Intellectual developmental disorder, X-linked - MIM#300495; 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 TNNT1 Lilian Downie 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
Intellectual disability syndromic and non-syndromic v0.5079 CENPF Mark Williams reviewed gene: CENPF: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35488810, 31953238, 26820108; Phenotypes: Stromme syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v1.172 CENPF Mark Williams Deleted their review
Microcephaly v1.172 CENPF Mark Williams reviewed gene: CENPF: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35488810, 31953238, 26820108; Phenotypes: Stromme syndrome, microcephaly, intestinal atresia, intellectual disability, developmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5079 ELP2 Renee Crooks changed review comment from: Phenotype of Intellectual Disability has been observed in the PMIDs listed above in the following forms;
-spastic diplegia
-cortico-cerebullar
-nodular heterotopia
-epilepsy
-severe motor development delay
-short stature
-neuropsychiatric problems
-choreoathetosis
-nystagmus; to: Phenotype of Intellectual Disability has been observed in the PMIDs listed above in the following forms;
-spastic diplegia
-cortico-cerebullar
-nodular heterotopia
-epilepsy
-severe motor development delay
-short stature
-neuropsychiatric problems
-choreoathetosis
-nystagmus

NB - review submit by Renée Crooks ( aka using google account as Lee Ren)
Intellectual disability syndromic and non-syndromic v0.5079 ELP2 Renee Crooks reviewed gene: ELP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33510603: 33976153: 33393008: 34653680: 25847581; Phenotypes: Intellectual Diability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5079 AMER1 Deepak Subramanian reviewed gene: AMER1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19079258, 22987541, 23401208, 28497491, 32879452, 35186393, 20950377, 22043478; Phenotypes: Osteopathia striata with cranial sclerosis, OMIM:300373, Osteopathia striata-cranial sclerosis syndrome, ORPHA:2780, Intellectual disability, HP:0001249; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.5079 DLD Philip Adam Harraka reviewed gene: DLD: Rating: GREEN; Mode of pathogenicity: None; Publications: 34745891, 33092611, 8968745; Phenotypes: Dihydrolipoamide dehydrogenase deficiency, hepatic and neurological disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5079 DHCR24 Nicolle Hua reviewed gene: DHCR24: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 11519011, 24961299, 29175559, 21559050, 12457401, 21671375; Phenotypes: Desmosterolosis, MIM# 602398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5079 DOCK8 Shannon Nicolson reviewed gene: DOCK8: Rating: RED; Mode of pathogenicity: None; Publications: 18060736, 29930340, 29191242, 33455084, 32978894, 25435912; Phenotypes: MIM#614113 intellectual developmental disorder, autosomal dominant 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5079 CDC42 Lorraine Skalicka reviewed gene: CDC42: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29925821, 26708094, 26386261, 29394990; Phenotypes: Takenouchi-Kosaki syndrome, Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5079 ALMS1 Christa Whelan reviewed gene: ALMS1: Rating: RED; Mode of pathogenicity: None; Publications: MIM # 203800, 27142762, 25846608, 18154657, 25296579, 17146208, 17940554, 22043170, 31889847, 2231654, 8418611, 8181924, 8556827, 9663233, 25864795, 8556827, 11941369.; Phenotypes: Alström Syndrome (multisystemic), characterized by progressive cone-rod dystrophy leading to blindness, sensorineural hearing loss, childhood obesity associated with hyperinsulinemia, and type 2 diabetes mellitus, Dilated cardiomyopathy occurs in approximately 70% of patients during infancy or adolescence, Renal failure, pulmonary, hepatic, and urologic dysfunction are often observed, and systemic fibrosis develops with age MIM# 203800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5079 BLM Ken Lee Wan reviewed gene: BLM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.1154 TNNT3 Lilian Downie 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 Downie 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 Downie 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
Intellectual disability syndromic and non-syndromic v0.5079 B3GLCT Jessica Wright reviewed gene: B3GLCT: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301637, 16909395, 17032646, 18199743, 25544610; Phenotypes: Peters Plus Syndrome (MIM 261540), Peters anomaly, Growth retardation, Brachydactyly, ID; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1154 TPM3 Lilian Downie 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
Intellectual disability syndromic and non-syndromic v0.5079 AP1S1 Gemma O'Farrell changed review comment from: Publications support gene-disease association. AP1S1 associated with MENDIK syndrome of which intellectual disability and global developmental delay are part of the phenotype. Functional data available.

OMIM: 603531

AP1S1 variant described in French-Canadian (Quebec) families with MENDIK (founder variant; splice variant, leading to PTC) different AS1P1 variant (insertion) described in Sephardic-Jewish child with mental retardation and a Turkish child with intellectual disability and MENDIK.; to: Publications support gene-disease association. AP1S1 associated with MENDIK syndrome of which intellectual disability and global developmental delay are part of the phenotype. Functional data available.

OMIM: 603531

AP1S1 variant described in French-Canadian (Quebec) families with MENDIK (founder variant; splice variant, leading to PTC) different AS1P1 variant (insertion) described in Sephardic-Jewish child with mental retardation and a Turkish child with intellectual disability and MENDIK.
Intellectual disability syndromic and non-syndromic v0.5079 AP1S1 Gemma O'Farrell reviewed gene: AP1S1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30244301, 24754424, 19057675, 23423674; Phenotypes: MENDIK syndrome, mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis and keratoderma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5079 ASAH1 Jacqueline Montgomery reviewed gene: ASAH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32875576; Phenotypes: Farber lipogranulomatosis MIM #228000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5079 DPM1 Sindhu V changed review comment from: More than 3 unrelated families with consistent phenotype of developmental delay, hypotonia , seizures, (acquired) microcephaly, vision impairment with/without elevated CK and cerebellar signs. Molecular evidence of biallelic involvement with missense, deletion and splice site variants as contributory mechanisms. Quantification of isoform consistent with CDG 1E pattern.; to: More than 3 unrelated families with consistent phenotype of developmental delay, hypotonia , seizures, (acquired) microcephaly, vision impairment with/without elevated CK and cerebellar signs. Molecular evidence of biallelic involvement with missense, deletion and splice site variants as contributory mechanisms. Quantification of isoform consistent with CDG 1E pattern.
Intellectual disability syndromic and non-syndromic v0.5079 DPM1 Sindhu V reviewed gene: DPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 10642602, 23856421, 16641202, 15669674, 10642597; Phenotypes: Acquired microcephaly, developmental delay, epilepsy, strabismus, hypotonia, cortical vision impairment, elevated creatine kinase, growth failure; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5079 BCKDK Zornitza Stark Marked gene: BCKDK as ready
Intellectual disability syndromic and non-syndromic v0.5079 BCKDK Zornitza Stark Gene: bckdk has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5079 BCKDK Zornitza Stark Phenotypes for gene: BCKDK were changed from to Branched-chain ketoacid dehydrogenase kinase deficiency MIM#614923
Intellectual disability syndromic and non-syndromic v0.5078 BCKDK Zornitza Stark Publications for gene: BCKDK were set to
Intellectual disability syndromic and non-syndromic v0.5077 BCKDK Zornitza Stark Mode of inheritance for gene: BCKDK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5076 BCKDK Zornitza Stark changed review comment from: At least 5 unrelated families reported. ID if untreated. Treatment available.; to: At least 5 unrelated families reported. ID/autism/seizures are part of the phenotype.

Treatment available: Branched-chain amino acid supplementation: improves psychomotor/cognitive development/IQ; improves behavioural/psychiatric disturbance(s); improves systemic manifestations
Intellectual disability syndromic and non-syndromic v0.5076 BCKDK Zornitza Stark reviewed gene: BCKDK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Branched-chain ketoacid dehydrogenase kinase deficiency MIM#614923; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5076 AHI1 Zornitza Stark Marked gene: AHI1 as ready
Intellectual disability syndromic and non-syndromic v0.5076 AHI1 Zornitza Stark Gene: ahi1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5076 AHI1 Zornitza Stark Phenotypes for gene: AHI1 were changed from to Joubert Syndrome 3 OMIM #608629
Intellectual disability syndromic and non-syndromic v0.5075 AHI1 Zornitza Stark Publications for gene: AHI1 were set to
Intellectual disability syndromic and non-syndromic v0.5074 AHI1 Zornitza Stark Mode of inheritance for gene: AHI1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5073 CEP41 Zornitza Stark Marked gene: CEP41 as ready
Intellectual disability syndromic and non-syndromic v0.5073 CEP41 Zornitza Stark Gene: cep41 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5073 CEP41 Zornitza Stark Phenotypes for gene: CEP41 were changed from to Joubert syndrome 15, MIM# 614464
Intellectual disability syndromic and non-syndromic v0.5072 CEP41 Zornitza Stark Publications for gene: CEP41 were set to
Intellectual disability syndromic and non-syndromic v0.5071 CEP41 Zornitza Stark Mode of inheritance for gene: CEP41 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5070 DAG1 Zornitza Stark Marked gene: DAG1 as ready
Intellectual disability syndromic and non-syndromic v0.5070 DAG1 Zornitza Stark Gene: dag1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5070 DAG1 Zornitza Stark Phenotypes for gene: DAG1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9
Intellectual disability syndromic and non-syndromic v0.5069 DAG1 Zornitza Stark Publications for gene: DAG1 were set to
Intellectual disability syndromic and non-syndromic v0.5068 DAG1 Zornitza Stark Mode of inheritance for gene: DAG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5067 DAG1 Zornitza Stark reviewed gene: DAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5067 BCKDK Savige Judy reviewed gene: BCKDK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:16875466, PMID: 22956686; Phenotypes: Intellectual disability, autism, epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.5067 AHI1 Caleb Cartagena reviewed gene: AHI1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 15322546, 16453322, 21937992; Phenotypes: Joubert Syndrome 3 OMIM #608629; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5067 CEP41 Mitchell O'Brien reviewed gene: CEP41: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22246503; Phenotypes: Joubert syndrome 15, MIM# 614464; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5067 DAG1 Nicholas Clark reviewed gene: DAG1: Rating: AMBER; Mode of pathogenicity: None; Publications: (PMID: 25934851, 29337005, 24052401, 21388311, 25503980, 30450679, 12140559, 21388311); Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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
Renal Tubulopathies and related disorders v1.0 AP2S1 Zornitza Stark Marked gene: AP2S1 as ready
Renal Tubulopathies and related disorders v1.0 AP2S1 Zornitza Stark Gene: ap2s1 has been classified as Green List (High Evidence).
Renal Tubulopathies and related disorders v1.0 AMMECR1 Zornitza Stark Marked gene: AMMECR1 as ready
Renal Tubulopathies and related disorders v1.0 AMMECR1 Zornitza Stark Gene: ammecr1 has been classified as Green List (High Evidence).
Renal Tubulopathies and related disorders v1.0 ALPL Zornitza Stark Marked gene: ALPL as ready
Renal Tubulopathies and related disorders v1.0 ALPL Zornitza Stark Gene: alpl has been classified as Green List (High Evidence).
Renal Tubulopathies and related disorders v1.0 AIRE Zornitza Stark Marked gene: AIRE as ready
Renal Tubulopathies and related disorders v1.0 AIRE Zornitza Stark Gene: aire has been classified as Green List (High Evidence).
Renal Tubulopathies and related disorders v1.0 AGXT Zornitza Stark Marked gene: AGXT as ready
Renal Tubulopathies and related disorders v1.0 AGXT Zornitza Stark Gene: agxt has been classified as Green List (High Evidence).
Renal Tubulopathies and related disorders v1.0 Zornitza Stark promoted panel to version 1.0
Proteinuria v0.214 WT1 Chirag Patel reviewed gene: WT1: Rating: GREEN; Mode of pathogenicity: None; Publications: Denys-Drash syndrome, MIM# 194080, Frasier syndrome, MIM#136680, Wilms tumor, type 1, MIM#194070, Nephrotic syndrome, type 4, MIM#256370; Phenotypes: Denys-Drash syndrome, MIM# 194080, Frasier syndrome, MIM#136680, Wilms tumor, type 1, MIM#194070, Nephrotic syndrome, type 4, MIM#256370; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Kidneyome_SuperPanel v7.288 Chirag Patel Changed child panels to: Renal Ciliopathies and Nephronophthisis; Renal Tubulointerstitial Disease; Haematuria_Alport; Proteinuria; Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic; Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic; Renal Macrocystic Disease; Atypical Haemolytic Uraemic Syndrome_MPGN; Renal Amyloidosis; Renal Tubulopathies and related disorders
Panel types changed to Superpanel; Victorian Clinical Genetics Services; KidGen; Royal Melbourne Hospital; Genetic Health Queensland
Renal Tubulopathies and related disorders v0.18 Chirag Patel Panel status changed from internal to public
Renal Tubulopathies and related disorders v0.17 SLC3A1 Chirag Patel reviewed gene: SLC3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25964309; Phenotypes: Cystinuria, MIM# 220100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Renal Tubulopathies and related disorders v0.17 SLC6A19 Chirag Patel reviewed gene: SLC6A19: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 15286788; Phenotypes: Hartnup disorder, MIM# 234500, Hyperglycinuria, MIM# 138500, Iminoglycinuria, MIM# 242600; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Renal Tubulopathies and related disorders v0.17 SLC4A4 Chirag Patel reviewed gene: SLC4A4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29914390, 10545938, 11274232, 35260236, 33439394; Phenotypes: Renal tubular acidosis, proximal, with ocular abnormalities MIM#604278, hemiplegic migraine; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Tubulopathies and related disorders v0.17 SLC36A2 Chirag Patel Classified gene: SLC36A2 as Green List (high evidence)
Renal Tubulopathies and related disorders v0.17 SLC36A2 Chirag Patel Gene: slc36a2 has been classified as Green List (High Evidence).
Renal Tubulopathies and related disorders v0.16 SLC36A2 Chirag Patel reviewed gene: SLC36A2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19033659, 26141664, 27604308; Phenotypes: Hyperglycinuria MIM#138500, Iminoglycinuria, digenic MIM#242600, Disorders of amino acid transport; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Renal Tubulopathies and related disorders v0.16 SLC1A1 Chirag Patel reviewed gene: SLC1A1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 21123949; Phenotypes: Dicarboxylic aminoaciduria, MIM# 222730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Tubulopathies and related disorders v0.16 SLC2A2 Chirag Patel reviewed gene: SLC2A2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30950137, 22145468; Phenotypes: Fanconi-Bickel syndrome, MIM #227810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Tubulopathies and related disorders v0.16 SLC7A9 Chirag Patel reviewed gene: SLC7A9: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 10471498; Phenotypes: Cystinuria, MIM# 220100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Renal Tubulopathies and related disorders v0.16 SCN4A Chirag Patel reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 8385748, 11591859; Phenotypes: Hyperkalemic periodic paralysis, type 2, MIM# 170500, Hypokalemic periodic paralysis, type 2, MIM# 613345; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal Tubulopathies and related disorders v0.16 GLA Chirag Patel reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28613767, 33673160; Phenotypes: Fabry disease (MIM# 301500); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Renal Tubulopathies and related disorders v0.15 CACNA1S Chirag Patel reviewed gene: CACNA1S: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11591859; Phenotypes: Hypokalemic periodic paralysis, type 1, MIM# 170400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal Tubulopathies and related disorders v0.15 CA2 Chirag Patel reviewed gene: CA2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34624559, 33555497, 12566520, 7627193; Phenotypes: Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5067 BOLA3 Zornitza Stark Marked gene: BOLA3 as ready
Intellectual disability syndromic and non-syndromic v0.5067 BOLA3 Zornitza Stark Gene: bola3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5067 BOLA3 Zornitza Stark Phenotypes for gene: BOLA3 were changed from to Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia (MMDS2, OMIM #614299)
Regression v0.513 BOLA3 Zornitza Stark gene: BOLA3 was added
gene: BOLA3 was added to Regression. Sources: Literature
Mode of inheritance for gene: BOLA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BOLA3 were set to 24334290; 29654549; 21944046; 22562699; 26741492; 24334290
Phenotypes for gene: BOLA3 were set to Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia (MMDS2, OMIM #614299)
Review for gene: BOLA3 was set to GREEN
Added comment: At least 5 unrelated families reported. Clinical course is characterised by regression.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5066 BOLA3 Zornitza Stark Publications for gene: BOLA3 were set to
Intellectual disability syndromic and non-syndromic v0.5065 BOLA3 Zornitza Stark Mode of inheritance for gene: BOLA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5064 BOLA3 Zornitza Stark reviewed gene: BOLA3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia (MMDS2, OMIM #614299); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5064 BOLA3 Layla Zhu reviewed gene: BOLA3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24334290, PMID: 29654549, PMID: 21944046, PMID: 22562699, PMID: 26741492, PMID: 24334290; Phenotypes: multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia (MMDS2, OMIM #614299); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Tubulopathies and related disorders v0.4 SLC9A3R1 Zornitza Stark gene: SLC9A3R1 was added
gene: SLC9A3R1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Red
Mode of inheritance for gene: SLC9A3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC9A3R1 were set to 18784102
Phenotypes for gene: SLC9A3R1 were set to Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287
Renal Tubulopathies and related disorders v0.4 SLC26A1 Zornitza Stark gene: SLC26A1 was added
gene: SLC26A1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Red
Mode of inheritance for gene: SLC26A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC26A1 were set to 27125215; 20160351; 30383413; 27210743
Phenotypes for gene: SLC26A1 were set to Nephrolithiasis, calcium oxalate, MIM#167030
Renal Tubulopathies and related disorders v0.4 EGFR Zornitza Stark gene: EGFR was added
gene: EGFR was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Red
Mode of inheritance for gene: EGFR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EGFR were set to 24691054
Phenotypes for gene: EGFR were set to Inflammatory skin and bowel disease, neonatal, 2; OMIM # 616069
Renal Tubulopathies and related disorders v0.4 EGF Zornitza Stark gene: EGF was added
gene: EGF was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Red
Mode of inheritance for gene: EGF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EGF were set to 17671655
Phenotypes for gene: EGF were set to Hypomagnesemia 4, renal, MIM#611718
Renal Tubulopathies and related disorders v0.4 ATP6V1C2 Zornitza Stark gene: ATP6V1C2 was added
gene: ATP6V1C2 was added to Renal Tubulopathies and related disorders. Sources: Literature,Expert Review Red
Mode of inheritance for gene: ATP6V1C2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP6V1C2 were set to 31959358
Phenotypes for gene: ATP6V1C2 were set to Distal renal tubular acidosis
Renal Tubulopathies and related disorders v0.4 SLC36A2 Zornitza Stark gene: SLC36A2 was added
gene: SLC36A2 was added to Renal Tubulopathies and related disorders. Sources: Literature,Victorian Clinical Genetics Services,Expert Review Amber
Mode of inheritance for gene: SLC36A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC36A2 were set to 26141664; 19033659; 27604308
Phenotypes for gene: SLC36A2 were set to Iminoglycinuria, digenic MIM#242600; Hyperglycinuria MIM#138500; Disorders of amino acid transport
Renal Tubulopathies and related disorders v0.4 SLC1A1 Zornitza Stark gene: SLC1A1 was added
gene: SLC1A1 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Amber
Mode of inheritance for gene: SLC1A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC1A1 were set to 21123949
Phenotypes for gene: SLC1A1 were set to Dicarboxylic aminoaciduria, MIM# 222730
Renal Tubulopathies and related disorders v0.4 NDUFAF6 Zornitza Stark gene: NDUFAF6 was added
gene: NDUFAF6 was added to Renal Tubulopathies and related disorders. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: NDUFAF6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF6 were set to 27466185
Phenotypes for gene: NDUFAF6 were set to Fanconi renotubular syndrome 5, MIM# 618913
Renal Tubulopathies and related disorders v0.4 KL Zornitza Stark gene: KL was added
gene: KL was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Amber
Mode of inheritance for gene: KL was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: KL were set to 17710231; 31013726; 9363890
Phenotypes for gene: KL were set to Hyperphosphatemia; Tumoral calcinosis, hyperphosphatemic, familial, 3 MIM#617994
Renal Tubulopathies and related disorders v0.4 FXYD2 Zornitza Stark gene: FXYD2 was added
gene: FXYD2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Amber
Mode of inheritance for gene: FXYD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FXYD2 were set to 17980699; 18448590; 12763862; 25765846; 27014088; 11062458
Phenotypes for gene: FXYD2 were set to Renal hypomagnesemia 2 MONDO:0007937
Renal Tubulopathies and related disorders v0.4 EHHADH Zornitza Stark gene: EHHADH was added
gene: EHHADH was added to Renal Tubulopathies and related disorders. Sources: Expert Review Amber,KidGen_Tubulopathies v38.1.0
Mode of inheritance for gene: EHHADH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EHHADH were set to 24401050
Phenotypes for gene: EHHADH were set to Fanconi renotubular syndrome 3, MIM#615605
Renal Tubulopathies and related disorders v0.4 CLCNKA Zornitza Stark gene: CLCNKA was added
gene: CLCNKA was added to Renal Tubulopathies and related disorders. Sources: Expert Review Amber,KidGen_Tubulopathies v38.1.0
Mode of inheritance for gene: CLCNKA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLCNKA were set to 18310267; 15044642
Phenotypes for gene: CLCNKA were set to Bartter syndrome, type 4b, digenic; OMIM #613090
Renal Tubulopathies and related disorders v0.4 ADCY10 Zornitza Stark gene: ADCY10 was added
gene: ADCY10 was added to Renal Tubulopathies and related disorders. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: ADCY10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ADCY10 were set to 11932268
Phenotypes for gene: ADCY10 were set to Hypercalciuria, absorptive, susceptibility to, MIM#143870
Renal Tubulopathies and related disorders v0.4 XDH Zornitza Stark gene: XDH was added
gene: XDH was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: XDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XDH were set to 32071838
Phenotypes for gene: XDH were set to Xanthinuria, type I (MIM#278300)
Renal Tubulopathies and related disorders v0.4 WNK4 Zornitza Stark gene: WNK4 was added
gene: WNK4 was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: WNK4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WNK4 were set to 31044551; 22266938
Phenotypes for gene: WNK4 were set to Pseudohypoaldosteronism, type IIB, MIM# 614491
Renal Tubulopathies and related disorders v0.4 WNK1 Zornitza Stark gene: WNK1 was added
gene: WNK1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: WNK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WNK1 were set to 11498583; 32790646
Phenotypes for gene: WNK1 were set to Pseudohypoaldosteronism 2C (PHA2C), MIM#614492
Renal Tubulopathies and related disorders v0.4 WDR72 Zornitza Stark gene: WDR72 was added
gene: WDR72 was added to Renal Tubulopathies and related disorders. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: WDR72 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR72 were set to 30028803; 30779877
Phenotypes for gene: WDR72 were set to Amelogenesis imperfecta, type IIA3, MIM# 613211; Distal RTA
Renal Tubulopathies and related disorders v0.4 VPS33B Zornitza Stark gene: VPS33B was added
gene: VPS33B was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green
Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS33B were set to 31777725; 31240160; 24415890; 15052268
Phenotypes for gene: VPS33B were set to Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085)
Renal Tubulopathies and related disorders v0.4 VIPAS39 Zornitza Stark gene: VIPAS39 was added
gene: VIPAS39 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green
Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VIPAS39 were set to 20190753; 35151346
Phenotypes for gene: VIPAS39 were set to Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404
Renal Tubulopathies and related disorders v0.4 VDR Zornitza Stark gene: VDR was added
gene: VDR was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: VDR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VDR were set to 17970811; 9005998; 2849209
Phenotypes for gene: VDR were set to Rickets, vitamin D-resistant, type IIA, MIM# 277440
Renal Tubulopathies and related disorders v0.4 UMOD Zornitza Stark gene: UMOD was added
gene: UMOD was added to Renal Tubulopathies and related disorders. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: UMOD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UMOD were set to 12471200; 12629136
Phenotypes for gene: UMOD were set to Hyperuricemic nephropathy, familial juvenile 1, MIM# 162000
Renal Tubulopathies and related disorders v0.4 TRPM6 Zornitza Stark gene: TRPM6 was added
gene: TRPM6 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green
Mode of inheritance for gene: TRPM6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRPM6 were set to 21669885
Phenotypes for gene: TRPM6 were set to Hypomagnesaemia 1, intestinal (MIM#602014)
Renal Tubulopathies and related disorders v0.4 TBCE Zornitza Stark gene: TBCE was added
gene: TBCE was added to Renal Tubulopathies and related disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBCE were set to 27666369
Phenotypes for gene: TBCE were set to Hypoparathyroidism-retardation-dysmorphism syndrome, OMIM #241410
Renal Tubulopathies and related disorders v0.4 STX16 Zornitza Stark gene: STX16 was added
gene: STX16 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: STX16 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: STX16 were set to 27338644; 15579741; 14561710; 24438374
Phenotypes for gene: STX16 were set to Pseudohypoparathyroidism, type IB, MIM#603233
Renal Tubulopathies and related disorders v0.4 STRADA Zornitza Stark gene: STRADA was added
gene: STRADA was added to Renal Tubulopathies and related disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: STRADA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STRADA were set to 30311510, 28688840, 27170158, 17522105
Phenotypes for gene: STRADA were set to Polyhydramnios, megalencephaly, and symptomatic epilepsy; OMIM #611087
Renal Tubulopathies and related disorders v0.4 SLC7A9 Zornitza Stark gene: SLC7A9 was added
gene: SLC7A9 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SLC7A9 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC7A9 were set to 10471498
Phenotypes for gene: SLC7A9 were set to Cystinuria, MIM# 220100
Renal Tubulopathies and related disorders v0.4 SLC7A7 Zornitza Stark gene: SLC7A7 was added
gene: SLC7A7 was added to Renal Tubulopathies and related disorders. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green
Mode of inheritance for gene: SLC7A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC7A7 were set to 10080182; 18716612
Phenotypes for gene: SLC7A7 were set to Lysinuric protein intolerance, MIM# 222700
Renal Tubulopathies and related disorders v0.4 SLC6A20 Zornitza Stark gene: SLC6A20 was added
gene: SLC6A20 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: SLC6A20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC6A20 were set to 24816252; 19033659
Phenotypes for gene: SLC6A20 were set to Hyperglycinuria, MIM# 138500
Renal Tubulopathies and related disorders v0.4 SLC6A19 Zornitza Stark gene: SLC6A19 was added
gene: SLC6A19 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert list,Expert Review Green
Mode of inheritance for gene: SLC6A19 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC6A19 were set to 15286788
Phenotypes for gene: SLC6A19 were set to Hyperglycinuria, MIM# 138500; Hartnup disorder, MIM# 234500; Iminoglycinuria, MIM# 242600
Renal Tubulopathies and related disorders v0.4 SLC5A2 Zornitza Stark gene: SLC5A2 was added
gene: SLC5A2 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: SLC5A2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: SLC5A2 were set to 21165652; 12436245; 26376857
Phenotypes for gene: SLC5A2 were set to Renal glucosuria, MIM# 233100
Renal Tubulopathies and related disorders v0.4 SLC4A4 Zornitza Stark gene: SLC4A4 was added
gene: SLC4A4 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green
Mode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC4A4 were set to 29914390; 10545938; 11274232; 35260236; 33439394
Phenotypes for gene: SLC4A4 were set to Hemiplegic migraine; Renal tubular acidosis, proximal, with ocular abnormalities, MIM# 604278
Renal Tubulopathies and related disorders v0.4 SLC4A1 Zornitza Stark gene: SLC4A1 was added
gene: SLC4A1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green
Mode of inheritance for gene: SLC4A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC4A1 were set to 10926824; 9312167; 9854053; 9600966
Phenotypes for gene: SLC4A1 were set to Distal renal tubular acidosis 4 with haemolytic anaemia, MIM# 611590; MONDO:0012700; MONDO:0008368; Distal renal tubular acidosis 1, MIM# 179800
Renal Tubulopathies and related disorders v0.4 SLC3A1 Zornitza Stark gene: SLC3A1 was added
gene: SLC3A1 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SLC3A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC3A1 were set to 25964309
Phenotypes for gene: SLC3A1 were set to Cystinuria, MIM# 220100
Renal Tubulopathies and related disorders v0.4 SLC34A3 Zornitza Stark gene: SLC34A3 was added
gene: SLC34A3 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: SLC34A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC34A3 were set to 32524022
Phenotypes for gene: SLC34A3 were set to Hypophosphataemic rickets with hypercalciuria, (MIM#241530)
Renal Tubulopathies and related disorders v0.4 SLC34A1 Zornitza Stark gene: SLC34A1 was added
gene: SLC34A1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: SLC34A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC34A1 were set to 33099630; 32216560; 31188746; 30943683; 26047794; 33516786; 30778725; 12324554; 32866123
Phenotypes for gene: SLC34A1 were set to Nephrolithiasis/osteoporosis, hypophosphatemic, 1 612286; Hypercalcaemia, infantile, 2 MIM#616963
Renal Tubulopathies and related disorders v0.4 SLC2A9 Zornitza Stark gene: SLC2A9 was added
gene: SLC2A9 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green
Mode of inheritance for gene: SLC2A9 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: SLC2A9 were set to 19926891; 25966807; 21256783; 19026395; 21810765
Phenotypes for gene: SLC2A9 were set to Hypouricaemia, renal, 2, MIM# 612076
Renal Tubulopathies and related disorders v0.4 SLC2A2 Zornitza Stark gene: SLC2A2 was added
gene: SLC2A2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green
Mode of inheritance for gene: SLC2A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC2A2 were set to 22145468; 30950137
Phenotypes for gene: SLC2A2 were set to Fanconi-Bickel syndrome, MIM# 227810
Renal Tubulopathies and related disorders v0.4 SLC22A12 Zornitza Stark gene: SLC22A12 was added
gene: SLC22A12 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SLC22A12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC22A12 were set to 34756726; 34412930; 26821810; 34829836; 14655203
Phenotypes for gene: SLC22A12 were set to Hypouricemia, renal, MIM# 220150, MONDO:0020728
Renal Tubulopathies and related disorders v0.4 SLC12A3 Zornitza Stark gene: SLC12A3 was added
gene: SLC12A3 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SLC12A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC12A3 were set to 8528245; 11102542
Phenotypes for gene: SLC12A3 were set to Gitelman syndrome, MIM# 263800
Renal Tubulopathies and related disorders v0.4 SLC12A1 Zornitza Stark gene: SLC12A1 was added
gene: SLC12A1 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: SLC12A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC12A1 were set to 8640224, 9355073, 28095294
Phenotypes for gene: SLC12A1 were set to Bartter syndrome, type 1, OMIM #601678
Renal Tubulopathies and related disorders v0.4 SCNN1G Zornitza Stark gene: SCNN1G was added
gene: SCNN1G was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: SCNN1G was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SCNN1G were set to 22207244; 31655555; 28484659; 30801930
Phenotypes for gene: SCNN1G were set to Pseudohypoaldosteronism, type I, MIM# 264350; Liddle syndrome 2, MIM# 618114
Renal Tubulopathies and related disorders v0.4 SCNN1B Zornitza Stark gene: SCNN1B was added
gene: SCNN1B was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: SCNN1B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SCNN1B were set to 8589714
Phenotypes for gene: SCNN1B were set to Pseudohypoaldosteronism, type I, MIM# 264350; Liddle syndrome 1, MIM# 177200
Renal Tubulopathies and related disorders v0.4 SCNN1A Zornitza Stark gene: SCNN1A was added
gene: SCNN1A was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: SCNN1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SCNN1A were set to 28710092; 31301676
Phenotypes for gene: SCNN1A were set to Bronchiectasis with or without elevated sweat chloride 2 613021 AD; Pseudohypoaldosteronism, type I 264350 AR.; ?Liddle syndrome 3 618126 AD
Renal Tubulopathies and related disorders v0.4 SCN4A Zornitza Stark gene: SCN4A was added
gene: SCN4A was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SCN4A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SCN4A were set to 34671263; 11591859; 8385748
Phenotypes for gene: SCN4A were set to Myotonia congenita, atypical, acetazolamide-responsive , MIM#608390; Myasthenic syndrome, congenital, 16, MIM# 614198; Hypokalemic periodic paralysis, type 2, MIM# 613345; Paramyotonia congenita , MIM#168300; Hyperkalemic periodic paralysis, type 2, MIM# 170500
Renal Tubulopathies and related disorders v0.4 SARS2 Zornitza Stark gene: SARS2 was added
gene: SARS2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green
Mode of inheritance for gene: SARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SARS2 were set to 35790048; 28236339; 36041817; 34570399
Phenotypes for gene: SARS2 were set to neurodevelopmental disorder MONDO#070009, SARS1-related
Renal Tubulopathies and related disorders v0.4 RRM2B Zornitza Stark gene: RRM2B was added
gene: RRM2B was added to Renal Tubulopathies and related disorders. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green
Mode of inheritance for gene: RRM2B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RRM2B were set to 32827185; 24741716
Phenotypes for gene: RRM2B were set to Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction, MIM# 268315; Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075
Renal Tubulopathies and related disorders v0.4 RMND1 Zornitza Stark gene: RMND1 was added
gene: RMND1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green
Mode of inheritance for gene: RMND1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RMND1 were set to 18835491; 23022099; 25604853; 23022098; 26395190
Phenotypes for gene: RMND1 were set to Combined oxidative phosphorylation deficiency 11 MIM#614922
Renal Tubulopathies and related disorders v0.4 RET Zornitza Stark gene: RET was added
gene: RET was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RET were set to 8099202; 7906866
Phenotypes for gene: RET were set to Multiple endocrine neoplasia IIB, MIM# 162300; Multiple endocrine neoplasia IIA, MIM# 171400
Renal Tubulopathies and related disorders v0.4 PTH1R Zornitza Stark gene: PTH1R was added
gene: PTH1R was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: PTH1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PTH1R were set to 7701349; 17164305; 8855805; 15525660; 19061984
Phenotypes for gene: PTH1R were set to Metaphyseal chondrodysplasia, Murk Jansen type MIM#156400; Failure of tooth eruption, primary MIM#125350; Eiken syndrome MIM#600002; Chondrodysplasia, Blomstrand type MIM#215045
Renal Tubulopathies and related disorders v0.4 PTH Zornitza Stark gene: PTH was added
gene: PTH was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: PTH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PTH were set to 2212001, 1302009, 10523031, 35165722, 32421798
Phenotypes for gene: PTH were set to Hypoparathyroidism, familial isolated 1, MIM# 146200
Renal Tubulopathies and related disorders v0.4 PHEX Zornitza Stark gene: PHEX was added
gene: PHEX was added to Renal Tubulopathies and related disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: PHEX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: PHEX were set to 31065622
Phenotypes for gene: PHEX were set to Hypophosphatemic rickets, X-linked dominant; OMIM #307800
Renal Tubulopathies and related disorders v0.4 PDE3A Zornitza Stark gene: PDE3A was added
gene: PDE3A was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: PDE3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDE3A were set to 25961942
Phenotypes for gene: PDE3A were set to Hypertension and brachydactyly syndrome, MIM# 112410
Renal Tubulopathies and related disorders v0.4 PCBD1 Zornitza Stark gene: PCBD1 was added
gene: PCBD1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green
Mode of inheritance for gene: PCBD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCBD1 were set to 24848070; 24204001
Phenotypes for gene: PCBD1 were set to Hyperphenylalaninemia, BH4-deficient, D, MIM# 264070
Renal Tubulopathies and related disorders v0.4 OCRL Zornitza Stark gene: OCRL was added
gene: OCRL was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: OCRL were set to 19773212, 27625797
Phenotypes for gene: OCRL were set to Dent disease 2, MIM #300555; Lowe syndrome, MIM# 309000
Renal Tubulopathies and related disorders v0.4 NR3C2 Zornitza Stark gene: NR3C2 was added
gene: NR3C2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: NR3C2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NR3C2 were set to 11134129; 11344206; 9662404; 16972228; 12788847
Phenotypes for gene: NR3C2 were set to Pseudohypoaldosteronism type I, autosomal dominant, MIM# 177735; MONDO:0008329
Renal Tubulopathies and related disorders v0.4 NR3C1 Zornitza Stark gene: NR3C1 was added
gene: NR3C1 was added to Renal Tubulopathies and related disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: NR3C1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NR3C1 were set to 12754700, 1704018, 8445027, 31995340
Phenotypes for gene: NR3C1 were set to Glucocorticoid resistance, OMIM # 615962
Renal Tubulopathies and related disorders v0.4 MUT Zornitza Stark gene: MUT was added
gene: MUT was added to Renal Tubulopathies and related disorders. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green
Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MUT were set to 1977311; 11528502; 12948746
Phenotypes for gene: MUT were set to Methylmalonic aciduria, mut(0) type, MIM# 251000
Renal Tubulopathies and related disorders v0.4 MOCOS Zornitza Stark gene: MOCOS was added
gene: MOCOS was added to Renal Tubulopathies and related disorders. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: MOCOS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MOCOS were set to 17368066; 34356852; 11302742; 32073534; 14624414; 27919260; 25967871; 30758870
Phenotypes for gene: MOCOS were set to Xanthinuria type II, MIM#603592
Renal Tubulopathies and related disorders v0.4 MEN1 Zornitza Stark gene: MEN1 was added
gene: MEN1 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MEN1 were set to 31797261, 14985373
Phenotypes for gene: MEN1 were set to Multiple endocrine neoplasia 1 MIM#131100
Renal Tubulopathies and related disorders v0.4 MAGED2 Zornitza Stark gene: MAGED2 was added
gene: MAGED2 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: MAGED2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: MAGED2 were set to 34895150; 35668994; 27120771
Phenotypes for gene: MAGED2 were set to Bartter syndrome, type 5, antenatal, transient, MIM# 300971
Renal Tubulopathies and related disorders v0.4 LCAT Zornitza Stark gene: LCAT was added
gene: LCAT was added to Renal Tubulopathies and related disorders. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green
Mode of inheritance for gene: LCAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LCAT were set to 6624548; 30720493
Phenotypes for gene: LCAT were set to Lecithin:Cholesterol Acyltransferase Deficiency, MIM# 245900; Fish-Eye disease, MIM# 136120
Renal Tubulopathies and related disorders v0.4 KLHL3 Zornitza Stark gene: KLHL3 was added
gene: KLHL3 was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: KLHL3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KLHL3 were set to 24821705; 34022862; 22406640; 22266938; 32462939
Phenotypes for gene: KLHL3 were set to Pseudohypoaldosteronism, type IID, MIM# 614495
Renal Tubulopathies and related disorders v0.4 KCNJ5 Zornitza Stark gene: KCNJ5 was added
gene: KCNJ5 was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: KCNJ5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNJ5 were set to 24574546; 22203740; 24420545; 21311022
Phenotypes for gene: KCNJ5 were set to Hyperaldosteronism, familial, type III, MIM# 613677
Renal Tubulopathies and related disorders v0.4 KCNJ16 Zornitza Stark gene: KCNJ16 was added
gene: KCNJ16 was added to Renal Tubulopathies and related disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: KCNJ16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KCNJ16 were set to 33811157; 33840812
Phenotypes for gene: KCNJ16 were set to deafness; Renal tubulopathy; Inherited renal tubular disease, MONDO:0015962, KCNJ16-related
Renal Tubulopathies and related disorders v0.4 KCNJ10 Zornitza Stark gene: KCNJ10 was added
gene: KCNJ10 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green
Mode of inheritance for gene: KCNJ10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KCNJ10 were set to 21849804; 19420365; 19289823; 11466414
Phenotypes for gene: KCNJ10 were set to SESAME syndrome, MIM# 612780
Renal Tubulopathies and related disorders v0.4 KCNJ1 Zornitza Stark gene: KCNJ1 was added
gene: KCNJ1 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: KCNJ1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KCNJ1 were set to 19096086; 12086641; 8841184; 9580661; 12122007; 7635463
Phenotypes for gene: KCNJ1 were set to Bartter syndrome, type 2, MIM#241200
Renal Tubulopathies and related disorders v0.4 KCNA1 Zornitza Stark gene: KCNA1 was added
gene: KCNA1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green
Mode of inheritance for gene: KCNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNA1 were set to 32316562; 11026449
Phenotypes for gene: KCNA1 were set to Epilepsy, MONDO:0005027, KCNA1-related; Episodic ataxia/myokymia syndrome, MIM# 160120
Renal Tubulopathies and related disorders v0.4 HSD3B2 Zornitza Stark gene: HSD3B2 was added
gene: HSD3B2 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: HSD3B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSD3B2 were set to 1363812, 18252794
Phenotypes for gene: HSD3B2 were set to Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM# 201810
Renal Tubulopathies and related disorders v0.4 HSD11B2 Zornitza Stark gene: HSD11B2 was added
gene: HSD11B2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: HSD11B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSD11B2 were set to 7670488; 17314322; 9683587
Phenotypes for gene: HSD11B2 were set to MONDO:0009025; Apparent mineralocorticoid excess, MIM# 218030
Renal Tubulopathies and related disorders v0.4 HPRT1 Zornitza Stark gene: HPRT1 was added
gene: HPRT1 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: HPRT1 were set to 20176575
Phenotypes for gene: HPRT1 were set to HPRT-related gout (MIM# 300323); Lesch-Nyhan syndrome (MIM# 300322)
Renal Tubulopathies and related disorders v0.4 HOGA1 Zornitza Stark gene: HOGA1 was added
gene: HOGA1 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: HOGA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HOGA1 were set to 21896830; 20797690; 22391140
Phenotypes for gene: HOGA1 were set to Hyperoxaluria, primary, type III MIM#613616
Renal Tubulopathies and related disorders v0.4 HNF4A Zornitza Stark gene: HNF4A was added
gene: HNF4A was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green
Mode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNF4A were set to 31875549; 30005691; 28458902; 24285859; 22802087
Phenotypes for gene: HNF4A were set to MODY, type I, OMIM # 125850; Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM #616026
Renal Tubulopathies and related disorders v0.4 HNF1B Zornitza Stark gene: HNF1B was added
gene: HNF1B was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNF1B were set to 27234911
Phenotypes for gene: HNF1B were set to Renal cysts and diabetes syndrome, MIM#137920
Renal Tubulopathies and related disorders v0.4 GRHPR Zornitza Stark gene: GRHPR was added
gene: GRHPR was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: GRHPR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRHPR were set to 11030416; 24116921; 10484776
Phenotypes for gene: GRHPR were set to Hyperoxaluria, primary, type II, MIM# 260000; MONDO:0009824
Renal Tubulopathies and related disorders v0.4 GNAS Zornitza Stark gene: GNAS was added
gene: GNAS was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: GNAS were set to 15331575
Phenotypes for gene: GNAS were set to Pseudohypoparathyroidism Ic (612462) AD; Pituitary adenoma 3, multiple types, somatic (617686); Pseudohypoparathyroidism Ia (103580) AD; Pseudohypoparathyroidism Ib (603233) AD; Osseous heteroplasia, progressive (166350) AD; Pseudopseudohypoparathyroidism (612463)
Renal Tubulopathies and related disorders v0.4 GNA11 Zornitza Stark gene: GNA11 was added
gene: GNA11 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: GNA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNA11 were set to 27334330; 23802536; 23802516; 26818911; 24823460
Phenotypes for gene: GNA11 were set to Hypocalciuric hypercalcemia, type II MIM#145981; Hypocalcemia, autosomal dominant 2 MIM#615361
Renal Tubulopathies and related disorders v0.4 GLA Zornitza Stark gene: GLA was added
gene: GLA was added to Renal Tubulopathies and related disorders. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: GLA were set to 8878432; 30681346; 31613176
Phenotypes for gene: GLA were set to Fabry disease (MIM# 301500)
Renal Tubulopathies and related disorders v0.4 GCM2 Zornitza Stark gene: GCM2 was added
gene: GCM2 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
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
Renal Tubulopathies and related disorders v0.4 GATM Zornitza Stark gene: GATM was added
gene: GATM was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green
Mode of inheritance for gene: GATM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GATM were set to 29654216
Phenotypes for gene: GATM were set to Fanconi renotubular syndrome 1, MIM# 134600
Renal Tubulopathies and related disorders v0.4 GATA3 Zornitza Stark gene: GATA3 was added
gene: GATA3 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GATA3 were set to 10935639, 11389161, 21120445, 26316437, 25771973, 27387476, 30396722
Phenotypes for gene: GATA3 were set to Hypoparathyroidism, sensorineural deafness, and renal dysplasia, OMIM #146255
Renal Tubulopathies and related disorders v0.4 GALNT3 Zornitza Stark gene: GALNT3 was added
gene: GALNT3 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: GALNT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALNT3 were set to 20358599; 32125652; 15133511
Phenotypes for gene: GALNT3 were set to Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900
Renal Tubulopathies and related disorders v0.4 FOXI1 Zornitza Stark gene: FOXI1 was added
gene: FOXI1 was added to Renal Tubulopathies and related disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: FOXI1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FOXI1 were set to 12642503; 29242249; 9843211
Phenotypes for gene: FOXI1 were set to autosomal recessive distal renal tubular acidosis MONDO:0018440
Renal Tubulopathies and related disorders v0.4 FGF23 Zornitza Stark gene: FGF23 was added
gene: FGF23 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: FGF23 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: FGF23 were set to 25378588; 34444516; 16151858; 16030159; 15590700; 11062477; 14966565
Phenotypes for gene: FGF23 were set to autosomal dominant hypophosphatemic rickets MONDO:0008660; familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0100251
Renal Tubulopathies and related disorders v0.4 FAM20C Zornitza Stark gene: FAM20C was added
gene: FAM20C was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM20C were set to 32833257; 19250384; 20825432; 33676444; 32299476
Phenotypes for gene: FAM20C were set to MONDO:0009821; Raine syndrome, MIM# 259775
Renal Tubulopathies and related disorders v0.4 FAM20A Zornitza Stark gene: FAM20A was added
gene: FAM20A was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: FAM20A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM20A were set to 24196488; 23697977; 23434854; 23468644; 25827751; 24756937; 21549343; 24259279; 21990045; 26502894
Phenotypes for gene: FAM20A were set to Amelogenesis imperfecta, type IG (enamel-renal syndrome) MIM#204690
Renal Tubulopathies and related disorders v0.4 FAM111A Zornitza Stark gene: FAM111A was added
gene: FAM111A was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green
Mode of inheritance for gene: FAM111A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FAM111A were set to 33010201; 32996714; 23684011; 32765931
Phenotypes for gene: FAM111A were set to autosomal dominant Kenny-Caffey syndrome MONDO:0007478
Renal Tubulopathies and related disorders v0.4 FAH Zornitza Stark gene: FAH was added
gene: FAH was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAH were set to 8318997; 8364576; 8253378; 1401056; 25681080
Phenotypes for gene: FAH were set to Tyrosinemia type I MONDO:0010161
Renal Tubulopathies and related disorders v0.4 ENPP1 Zornitza Stark gene: ENPP1 was added
gene: ENPP1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: ENPP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ENPP1 were set to 15605415; 20016754; 12881724; 20137772; 20137773; 33005041; 35220637; 28964717; 24075184; 26617416; 32598042
Phenotypes for gene: ENPP1 were set to Arterial calcification, generalized, of infancy, 1, MIM# 208000; Cole disease, MIM# 615522; Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312
Renal Tubulopathies and related disorders v0.4 DMP1 Zornitza Stark gene: DMP1 was added
gene: DMP1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: DMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DMP1 were set to 32920683; 17033621; 17033625
Phenotypes for gene: DMP1 were set to Hypophosphatemic rickets MIM#241520
Renal Tubulopathies and related disorders v0.4 CYP2R1 Zornitza Stark gene: CYP2R1 was added
gene: CYP2R1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: CYP2R1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP2R1 were set to 28548312; 15128933
Phenotypes for gene: CYP2R1 were set to Rickets due to defect in vitamin D 25-hydroxylation deficiency MIM#600081
Renal Tubulopathies and related disorders v0.4 CYP27B1 Zornitza Stark gene: CYP27B1 was added
gene: CYP27B1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: CYP27B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP27B1 were set to 27473561; 34492747; 12050193; 9486994; 33823104; 9415400
Phenotypes for gene: CYP27B1 were set to Vitamin D-dependent rickets, type I MIM#264700
Renal Tubulopathies and related disorders v0.4 CYP24A1 Zornitza Stark gene: CYP24A1 was added
gene: CYP24A1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: CYP24A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP24A1 were set to 21675912; 33186763; 32743688; 33516786; 32866123; 22047572
Phenotypes for gene: CYP24A1 were set to Hypercalcaemia, infantile, 1, MIM# 143880; MONDO:0020739
Renal Tubulopathies and related disorders v0.4 CYP21A2 Zornitza Stark gene: CYP21A2 was added
gene: CYP21A2 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: CYP21A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP21A2 were set to 11397897; 12930931; 12915679
Phenotypes for gene: CYP21A2 were set to Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910; Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910
Renal Tubulopathies and related disorders v0.4 CYP17A1 Zornitza Stark gene: CYP17A1 was added
gene: CYP17A1 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: CYP17A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP17A1 were set to 2843762, 14671162, 2026124
Phenotypes for gene: CYP17A1 were set to 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110
Renal Tubulopathies and related disorders v0.4 CYP11B2 Zornitza Stark gene: CYP11B2 was added
gene: CYP11B2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: CYP11B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP11B2 were set to 9360501; 9814506; 12788848; 8439335; 8772616; 15240589
Phenotypes for gene: CYP11B2 were set to Hypoaldosteronism, congenital, due to CMO I deficiency (MIM#203400) or due to CMO II deficiency (MIM#610600)
Renal Tubulopathies and related disorders v0.4 CYP11B1 Zornitza Stark gene: CYP11B1 was added
gene: CYP11B1 was added to Renal Tubulopathies and related disorders. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: CYP11B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CYP11B1 were set to 29703198; 1731223
Phenotypes for gene: CYP11B1 were set to Aldosteronism, glucocorticoid-remediable, MIM# 103900
Renal Tubulopathies and related disorders v0.4 CUL3 Zornitza Stark gene: CUL3 was added
gene: CUL3 was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: CUL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CUL3 were set to 22266938
Phenotypes for gene: CUL3 were set to Pseudohypoaldosteronism, type IIE, MIM# 614496
Renal Tubulopathies and related disorders v0.4 CTNS Zornitza Stark gene: CTNS was added
gene: CTNS was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTNS were set to 20301574, 9537412, 31068690
Phenotypes for gene: CTNS were set to Cystinosis, nephropathic MIM#219800
Renal Tubulopathies and related disorders v0.4 CPT2 Zornitza Stark gene: CPT2 was added
gene: CPT2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green
Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPT2 were set to 11477613; 12410208; 8358442; 8651281
Phenotypes for gene: CPT2 were set to CPT II deficiency, lethal neonatal 608836; CPT II deficiency, infantile 600649; CPT II deficiency, myopathic, stress-induced 255110
Renal Tubulopathies and related disorders v0.4 CNNM2 Zornitza Stark gene: CNNM2 was added
gene: CNNM2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green
Mode of inheritance for gene: CNNM2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: CNNM2 were set to 35170241; 34604137
Phenotypes for gene: CNNM2 were set to Hypomagnesemia 6, renal MIM#613882; Hypomagnesemia, seizures, and mental retardation MIM#616418
Renal Tubulopathies and related disorders v0.4 CLDN19 Zornitza Stark gene: CLDN19 was added
gene: CLDN19 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green
Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLDN19 were set to 22422540; 27530400; 17033971
Phenotypes for gene: CLDN19 were set to Hypomagnesaemia 5, renal, with ocular involvement, MIM#248190
Renal Tubulopathies and related disorders v0.4 CLDN16 Zornitza Stark gene: CLDN16 was added
gene: CLDN16 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green
Mode of inheritance for gene: CLDN16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLDN16 were set to 16501001; 32869508; 10878661; 26426912
Phenotypes for gene: CLDN16 were set to amelogenesis imperfecta MONDO#0019507, CLDN16-related; Hypomagnesemia 3, renal MIM#248250
Renal Tubulopathies and related disorders v0.4 CLDN10 Zornitza Stark gene: CLDN10 was added
gene: CLDN10 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green
Mode of inheritance for gene: CLDN10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLDN10 were set to 28686597
Phenotypes for gene: CLDN10 were set to HELIX syndrome, MIM#617671
Renal Tubulopathies and related disorders v0.4 CLCNKB Zornitza Stark gene: CLCNKB was added
gene: CLCNKB was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CLCNKB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLCNKB were set to 18310267; 15044642; 9326936
Phenotypes for gene: CLCNKB were set to Bartter syndrome, type 3, MIM# 607364; Bartter syndrome, type 4b, digenic, MIM# 613090
Renal Tubulopathies and related disorders v0.4 CLCN5 Zornitza Stark gene: CLCN5 was added
gene: CLCN5 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CLCN5 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: CLCN5 were set to 28580211; 8559248, 9596078
Phenotypes for gene: CLCN5 were set to Dent disease, MIM#300009; Nephrolithiasis, type I, MIM#310468; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, MIM#308990; Hypophosphatemic rickets, MIM#300554
Renal Tubulopathies and related disorders v0.4 CLCN2 Zornitza Stark gene: CLCN2 was added
gene: CLCN2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: CLCN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CLCN2 were set to 29403012; 29403011
Phenotypes for gene: CLCN2 were set to Hyperaldosteronism, familial, type II 605635
Renal Tubulopathies and related disorders v0.4 CDKN1B Zornitza Stark gene: CDKN1B was added
gene: CDKN1B was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: CDKN1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDKN1B were set to 24819502, 17030811, 23555276
Phenotypes for gene: CDKN1B were set to Multiple endocrine neoplasia type 4, MEN4, OMIM #610755
Renal Tubulopathies and related disorders v0.4 CDC73 Zornitza Stark gene: CDC73 was added
gene: CDC73 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: CDC73 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDC73 were set to 12434154
Phenotypes for gene: CDC73 were set to Hyperparathyroidism-jaw tumour syndrome, MIM# 145001; Hyperparathyroidism, familial primary, MIM# 145000
Renal Tubulopathies and related disorders v0.4 CASR Zornitza Stark gene: CASR was added
gene: CASR was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CASR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CASR were set to 30760291; 8813042; 27234911
Phenotypes for gene: CASR were set to Hypocalcemia, autosomal dominant, with Bartter syndrome, MIM#601198; Hypocalciuric hypercalcemia, type I, MIM# 145980
Renal Tubulopathies and related disorders v0.4 CACNA1S Zornitza Stark gene: CACNA1S was added
gene: CACNA1S was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: CACNA1S was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1S were set to 11591859; 28012042
Phenotypes for gene: CACNA1S were set to Hypokalemic periodic paralysis, type 1, MIM# 170400
Renal Tubulopathies and related disorders v0.4 CACNA1H Zornitza Stark gene: CACNA1H was added
gene: CACNA1H was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: CACNA1H was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1H were set to 25907736; 31126930; 27729216
Phenotypes for gene: CACNA1H were set to MONDO:0014875; Hyperaldosteronism, familial, type IV MIM#617027
Renal Tubulopathies and related disorders v0.4 CACNA1D Zornitza Stark gene: CACNA1D was added
gene: CACNA1D was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: CACNA1D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1D were set to 23913001; 32336187; 30698561
Phenotypes for gene: CACNA1D were set to MONDO:0014200; Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474
Renal Tubulopathies and related disorders v0.4 CA2 Zornitza Stark gene: CA2 was added
gene: CA2 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CA2 were set to 34624559; 12566520; 33555497; 7627193
Phenotypes for gene: CA2 were set to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730
Renal Tubulopathies and related disorders v0.4 BSND Zornitza Stark gene: BSND was added
gene: BSND was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: BSND was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BSND were set to 21269598; 30174009; 11687798; 12574213; 27234911
Phenotypes for gene: BSND were set to Bartter syndrome, type 4a, MIM# 602522
Renal Tubulopathies and related disorders v0.4 BCS1L Zornitza Stark gene: BCS1L was added
gene: BCS1L was added to Renal Tubulopathies and related disorders. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green
Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCS1L were set to 26563427; 17314340; 24172246
Phenotypes for gene: BCS1L were set to Mitochondrial complex III deficiency, nuclear type MIM#112400; Bjornstad syndrome MIM#262000; GRACILE syndrome, MIM#603358
Renal Tubulopathies and related disorders v0.4 AVPR2 Zornitza Stark gene: AVPR2 was added
gene: AVPR2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green
Mode of inheritance for gene: AVPR2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: AVPR2 were set to 9127330; 1356229; 20301356; 27156763; 15872203
Phenotypes for gene: AVPR2 were set to Nephrogenic syndrome of inappropriate antidiuresis 300539; Diabetes insipidus, nephrogenic 304800
Renal Tubulopathies and related disorders v0.4 ATP6V1B1 Zornitza Stark gene: ATP6V1B1 was added
gene: ATP6V1B1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green
Mode of inheritance for gene: ATP6V1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP6V1B1 were set to 12414817; 9916796; 18798332; 16611712
Phenotypes for gene: ATP6V1B1 were set to Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300
Renal Tubulopathies and related disorders v0.4 ATP6V0A4 Zornitza Stark gene: ATP6V0A4 was added
gene: ATP6V0A4 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: ATP6V0A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP6V0A4 were set to 10973252; 12414817
Phenotypes for gene: ATP6V0A4 were set to Renal tubular acidosis, distal, autosomal recessive, MIM#602722
Renal Tubulopathies and related disorders v0.4 ATP1A1 Zornitza Stark gene: ATP1A1 was added
gene: ATP1A1 was added to Renal Tubulopathies and related disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: ATP1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP1A1 were set to 30388404
Phenotypes for gene: ATP1A1 were set to Charcot-Marie-Tooth disease, axonal, type 2DD, OMIM #618036; Hypomagnesemia, seizures, and mental retardation 2, OMIM #618314
Renal Tubulopathies and related disorders v0.4 AQP2 Zornitza Stark gene: AQP2 was added
gene: AQP2 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: AQP2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: AQP2 were set to 7537761; 11536078; 9649557; 20301356; 27156763; 7524315
Phenotypes for gene: AQP2 were set to Diabetes insipidus, nephrogenic MIM#125800
Renal Tubulopathies and related disorders v0.4 APRT Zornitza Stark gene: APRT was added
gene: APRT was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: APRT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APRT were set to 1353080; 2227934; 3680503; 7915931
Phenotypes for gene: APRT were set to Adenine phosphoribosyltransferase deficiency, MIM#614723
Renal Tubulopathies and related disorders v0.4 AP2S1 Zornitza Stark gene: AP2S1 was added
gene: AP2S1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: AP2S1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AP2S1 were set to 33729479; 3204769; 23222959; 29479578; 33168530; 31723423
Phenotypes for gene: AP2S1 were set to Hypocalciuric hypercalcaemia, type III, MIM# 600740; MONDO:0010926
Renal Tubulopathies and related disorders v0.4 AMMECR1 Zornitza Stark gene: AMMECR1 was added
gene: AMMECR1 was added to Renal Tubulopathies and related disorders. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: AMMECR1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: AMMECR1 were set to 28089922; 27811305; 29193635
Phenotypes for gene: AMMECR1 were set to Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, MIM# 300990
Renal Tubulopathies and related disorders v0.4 ALPL Zornitza Stark gene: ALPL was added
gene: ALPL was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: ALPL was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: ALPL were set to 23688511; 19500388
Phenotypes for gene: ALPL were set to Hypophosphatasia, childhood, OMIM #241510; Odontohypophosphatasia, OMIM #146300; Hypophosphatasia, adult, OMIM # 146300; Hypophosphatasia, infantile, OMIM #241500
Renal Tubulopathies and related disorders v0.4 AIRE Zornitza Stark gene: AIRE was added
gene: AIRE was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: AIRE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AIRE were set to 35521792
Phenotypes for gene: AIRE were set to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM #240300
Renal Tubulopathies and related disorders v0.4 AGXT Zornitza Stark gene: AGXT was added
gene: AGXT was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGXT were set to 10453743; 2039493; 1703535; 19479957
Phenotypes for gene: AGXT were set to MONDO:0009823; Hyperoxaluria, primary, type 1, MIM# 259900
Mendeliome v1.532 TIMMDC1 Zornitza Stark Classified gene: TIMMDC1 as Green List (high evidence)
Mendeliome v1.532 TIMMDC1 Zornitza Stark Gene: timmdc1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.850 TIMMDC1 Zornitza Stark Classified gene: TIMMDC1 as Green List (high evidence)
Mitochondrial disease v0.850 TIMMDC1 Zornitza Stark Gene: timmdc1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5064 CBS Zornitza Stark Marked gene: CBS as ready
Intellectual disability syndromic and non-syndromic v0.5064 CBS Zornitza Stark Gene: cbs has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5064 CBS Zornitza Stark Phenotypes for gene: CBS were changed from to Homocystinuria (MIM# 236200)
Intellectual disability syndromic and non-syndromic v0.5063 CBS Zornitza Stark Mode of inheritance for gene: CBS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5062 CBS Zornitza Stark reviewed gene: CBS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Homocystinuria (MIM# 236200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v1.26 DCLRE1B Zornitza Stark Marked gene: DCLRE1B as ready
Bone Marrow Failure v1.26 DCLRE1B Zornitza Stark Gene: dclre1b has been classified as Green List (High Evidence).
Bone Marrow Failure v1.26 DCLRE1B Zornitza Stark Phenotypes for gene: DCLRE1B were changed from Dyskeratosis congenita, autosomal recessive 8 to Dyskeratosis congenita, autosomal recessive 8, MIM# 620133
Bone Marrow Failure v1.25 DCLRE1B Zornitza Stark Classified gene: DCLRE1B as Green List (high evidence)
Bone Marrow Failure v1.25 DCLRE1B Zornitza Stark Gene: dclre1b has been classified as Green List (High Evidence).
Mendeliome v1.531 MPC2 Zornitza Stark Marked gene: MPC2 as ready
Mendeliome v1.531 MPC2 Zornitza Stark Gene: mpc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.531 MPC2 Zornitza Stark Classified gene: MPC2 as Amber List (moderate evidence)
Mendeliome v1.531 MPC2 Zornitza Stark Gene: mpc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.530 MPC2 Zornitza Stark gene: MPC2 was added
gene: MPC2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPC2 were set to 36417180
Phenotypes for gene: MPC2 were set to mitochondrial pyruvate carrier deficiency, MONDO:0013877, MPC2-related
Review for gene: MPC2 was set to AMBER
Added comment: Four patients from two unrelated consanguineous families reported with homozygous variants (missense and stop-loss). Siblings from family 1 were diagnosed prenatally with diffuse subcutaneous oedema, cardiomegaly, corpus callosum agenesis, ventriculomegaly and hypoplasia of the cerebellum. Siblings from family 2 had slightly different presentations, which included anoxo-ischemic encephalopathy, isolated dyspnea, neonatal respiratory distress, neonatal jaundice, hypotonia, visual impairment, microcephaly; both siblings had severe delayed psychomotor development. Immunoblot analysis of protein expression in lysates from patient-derived fibroblasts demonstrated reduced MPC1 and MPC2 protein levels.
Sources: Literature
Mitochondrial disease v0.849 MPC2 Zornitza Stark Marked gene: MPC2 as ready
Mitochondrial disease v0.849 MPC2 Zornitza Stark Gene: mpc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.529 Zornitza Stark removed gene:NPC1 from the panel
Intellectual disability syndromic and non-syndromic v0.5062 BOLA3 Layla Zhu Deleted their review
Intellectual disability syndromic and non-syndromic v0.5062 BOLA3 Layla Zhu reviewed gene: BOLA3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29654549; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.849 MPC2 Zornitza Stark Classified gene: MPC2 as Amber List (moderate evidence)
Mitochondrial disease v0.849 MPC2 Zornitza Stark Gene: mpc2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1813 ARF3 Zornitza Stark Phenotypes for gene: ARF3 were changed from Global developmental delay; Intellectual disability; Seizures; Morphological abnormality of the central nervous system to Neurodevelopmental disorder (MONDO:0700092), ARF3-related; Global developmental delay; Intellectual disability; Seizures; Morphological abnormality of the central nervous system
Genetic Epilepsy v0.1812 ARF3 Zornitza Stark Publications for gene: ARF3 were set to 34346499
Genetic Epilepsy v0.1811 ARF3 Zornitza Stark Classified gene: ARF3 as Green List (high evidence)
Genetic Epilepsy v0.1811 ARF3 Zornitza Stark Gene: arf3 has been classified as Green List (High Evidence).
Mendeliome v1.528 ARF3 Zornitza Stark Publications for gene: ARF3 were set to 34346499
Mendeliome v1.527 ARF3 Zornitza Stark Classified gene: ARF3 as Green List (high evidence)
Mendeliome v1.527 ARF3 Zornitza Stark Gene: arf3 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v1.75 EMILIN1 Zornitza Stark Marked gene: EMILIN1 as ready
Aortopathy_Connective Tissue Disorders v1.75 EMILIN1 Zornitza Stark Gene: emilin1 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v1.75 EMILIN1 Zornitza Stark Publications for gene: EMILIN1 were set to PMID: 36351433
Aortopathy_Connective Tissue Disorders v1.74 EMILIN1 Zornitza Stark reviewed gene: EMILIN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31978608, 26462740; Phenotypes: Neuronopathy, distal hereditary motor, type X, MIM# 620080, Peripheral neuropathy, aortic aneurysm; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Aortopathy_Connective Tissue Disorders v1.74 EMILIN1 Zornitza Stark Classified gene: EMILIN1 as Green List (high evidence)
Aortopathy_Connective Tissue Disorders v1.74 EMILIN1 Zornitza Stark Gene: emilin1 has been classified as Green List (High Evidence).
Mendeliome v1.526 TIMMDC1 Paul De Fazio reviewed gene: TIMMDC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36349561, 33278652; Phenotypes: Mitochondrial complex I deficiency, nuclear type 31 MIM#618251; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mitochondrial disease v0.848 TIMMDC1 Paul De Fazio changed review comment from: PMID:36349561 report the same homozygous missense variant p.(Arg137His) was identified in 4 fetuses from 2 families terminated for corpus callosum defects. Autopsies showed global hypotrophy and similar facial dysmorphism with coarse face, microcephaly, and microlissencephaly or gyration delay. All 4 fetuses were diagnosed with complete agenesis of CC. Immunoblot analyses of muscle homogenates revealed a strong reduction in the abundance of the TIMMDC1 protein. There was decreased abundance of complex I subunits in muscle tissue.

PMID:33278652 reported two siblings from a Dutch family presenting in infancy with hypotonia and respiratory insufficiency and a rapidly progressive and fatal disease course. A muscle biopsy demonstrated complex I deficiency in brother 2. Each was compound het for the NMD-predicted variant p.(Arg129*) and the previously reported recurrent deep intronic variant c.596+2146A>G.

In total, 3 variants in 6 families with mitochondrial complex I deficiency have been reported.; to: PMID:36349561 report the same homozygous missense variant p.(Arg137His) was identified in 4 fetuses from 2 families terminated for corpus callosum defects. Autopsies showed global hypotrophy and similar facial dysmorphism with coarse face, microcephaly, and microlissencephaly or gyration delay. All 4 fetuses were diagnosed with complete agenesis of CC. Immunoblot analyses of muscle homogenates revealed a strong reduction in the abundance of the TIMMDC1 protein. There was decreased abundance of complex I subunits in muscle tissue.

PMID:33278652 reported two siblings from a Dutch family presenting in infancy with hypotonia and respiratory insufficiency and a rapidly progressive and fatal disease course. A muscle biopsy demonstrated complex I deficiency in brother 2. Each was compound het for the NMD-predicted variant p.(Arg129*) and the previously reported recurrent deep intronic variant c.596+2146A>G.

In total, 3 variants in 6 families with mitochondrial complex I deficiency have been reported. A deep intronic variant shown to affect splicing is recurrent.
Regression v0.512 EPRS Zornitza Stark Marked gene: EPRS as ready
Regression v0.512 EPRS Zornitza Stark Gene: eprs has been classified as Green List (High Evidence).
Mitochondrial disease v0.848 TIMMDC1 Paul De Fazio reviewed gene: TIMMDC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36349561, 33278652; Phenotypes: Mitochondrial complex I deficiency, nuclear type 31 MIM#618251; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Regression v0.512 EPRS Zornitza Stark Classified gene: EPRS as Green List (high evidence)
Regression v0.512 EPRS Zornitza Stark Gene: eprs has been classified as Green List (High Evidence).
Mendeliome v1.526 LEMD2 Seb Lunke Phenotypes for gene: LEMD2 were changed from Marbach-Rustad progeroid syndrome, OMIM# 619322; progeroid disorder to Marbach-Rustad progeroid syndrome, OMIM# 619322; arrhythmogenic right ventricular cardiomyopathy, MONDO:0016587; Cataract 46, juvenile-onset, OMIM# 212500
Mendeliome v1.525 LEMD2 Seb Lunke Publications for gene: LEMD2 were set to PMID: 30905398
Intellectual disability syndromic and non-syndromic v0.5062 EPRS Zornitza Stark Marked gene: EPRS as ready
Intellectual disability syndromic and non-syndromic v0.5062 EPRS Zornitza Stark Gene: eprs has been classified as Green List (High Evidence).
Mendeliome v1.524 LEMD2 Seb Lunke Mode of inheritance for gene: LEMD2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.523 LEMD2 Seb Lunke reviewed gene: LEMD2: Rating: AMBER; Mode of pathogenicity: None; Publications: 31061923, 26788539, 30905398, 36377660; Phenotypes: Marbach-Rustad progeroid syndrome, OMIM# 619322, arrhythmogenic right ventricular cardiomyopathy, MONDO:0016587, Cataract 46, juvenile-onset, OMIM# 212500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arrhythmogenic Cardiomyopathy v0.66 LEMD2 Seb Lunke Marked gene: LEMD2 as ready
Arrhythmogenic Cardiomyopathy v0.66 LEMD2 Seb Lunke Gene: lemd2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.5062 TCEAL1 Zornitza Stark Marked gene: TCEAL1 as ready
Intellectual disability syndromic and non-syndromic v0.5062 TCEAL1 Zornitza Stark Gene: tceal1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5062 TCEAL1 Zornitza Stark Phenotypes for gene: TCEAL1 were changed from hypotonia; abnormal gait; developmental delay; intellectual disability; autism; dysmorphic facial features. to Neurodevelopmental disorder, MONDO:0700092, TCEAL1-related; hypotonia; abnormal gait; developmental delay; intellectual disability; autism; dysmorphic facial features
Intellectual disability syndromic and non-syndromic v0.5061 TCEAL1 Zornitza Stark Classified gene: TCEAL1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5061 TCEAL1 Zornitza Stark Gene: tceal1 has been classified as Green List (High Evidence).
Regression v0.511 TCEAL1 Zornitza Stark Marked gene: TCEAL1 as ready
Regression v0.511 TCEAL1 Zornitza Stark Gene: tceal1 has been classified as Amber List (Moderate Evidence).
Regression v0.511 TCEAL1 Zornitza Stark Phenotypes for gene: TCEAL1 were changed from hypotonia, abnormal gait, developmental delay, intellectual disability, autism, dysmorphic facial features. to Neurodevelopmental disorder, MONDO:0700092, TCEAL1-related; hypotonia; abnormal gait; developmental delay; intellectual disability; autism; dysmorphic facial features
Regression v0.510 TCEAL1 Zornitza Stark Classified gene: TCEAL1 as Amber List (moderate evidence)
Regression v0.510 TCEAL1 Zornitza Stark Gene: tceal1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1810 TCEAL1 Zornitza Stark Marked gene: TCEAL1 as ready
Genetic Epilepsy v0.1810 TCEAL1 Zornitza Stark Gene: tceal1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1810 TCEAL1 Zornitza Stark Classified gene: TCEAL1 as Amber List (moderate evidence)
Genetic Epilepsy v0.1810 TCEAL1 Zornitza Stark Gene: tceal1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.523 NUP54 Zornitza Stark Marked gene: NUP54 as ready
Mendeliome v1.523 NUP54 Zornitza Stark Gene: nup54 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.523 NUP54 Zornitza Stark Phenotypes for gene: NUP54 were changed from Early onset dystonia; progressive neurological deterioration; ataxia; dysarthria; dysphagia; hypotonia to Striatonigral degeneration, MONDO:0003122, NUP54-related; Early onset dystonia; progressive neurological deterioration; ataxia; dysarthria; dysphagia; hypotonia
Mendeliome v1.522 NUP54 Zornitza Stark Mode of pathogenicity for gene: NUP54 was changed from None to None
Regression v0.509 TCEAL1 Melanie Marty edited their review of gene: TCEAL1: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, TCEAL1-related, hypotonia, abnormal gait, developmental delay, intellectual disability, autism, dysmorphic facial features
Regression v0.509 TCEAL1 Melanie Marty edited their review of gene: TCEAL1: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, TCEAL1-related, hypotonia, abnormal gait, developmental delay, intellectual disability, autism, dysmorphic facial features.; Set current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.5060 CBS Lloyd Pereira changed review comment from: Listed in OMIM with a strong disease association (MIM #236200 homocysteinuria).

Multiple experimental and clinical studies demonstrate link between CBS and homocysteinuria (see below):

Multiple LOF variants classified as pathogenic or likely pathogenic in ClinVar and reported in the literature in multiple homozygote and compound heterozygote individuals affected with homocystinuria, e.g. c.19dup p.(Gln7fs) (PMID: 25218699; 12124992) and c.919G>A p.(Gly307Ser) (PMID: 7506602, 7581402, 8744616, 9889017, 23733603).

Multiple CBS variants reported in CBS deficiency (PMID: 12124992).

ClinGen classify as definitive for Homocysteinuria. Clingen states- Twenty-one unique variants were curated (missense, nonsense, frameshift, and splice site) in 15 probands from 8 publications, and three of these probands each had two affected siblings in whom CBS variants were identified (PMID 1301198, 10408774, 7762555, 12815602, 16307898, 25455305, 26667307, 29508359). Gene-disease relationship is supported by the biochemical function of CBS, which is consistent with the biochemical features in patients with homocystinuria (including elevated plasma total homocysteine and methionine) (PMID 13654400, 15890029), functional studies in yeast, bacteria, and cultured cells, including chaperone studies in fibroblasts from patients with homocystinuria (PMID 9590298, 25331909), as well as the biochemical and clinical features of mouse models (PMID 18987302) and enzyme replacement studies in mice (PMID 29398487).

Recent review reports on role of CBS in down syndrome (PMID: 31955501). However, caveat that multiple genes are associated with down syndrome. Not a strong body of research available linking CBS variants and down syndrome.; to: Listed in OMIM with a strong disease association (MIM #236200 homocysteinuria).

Multiple experimental and clinical studies demonstrate link between CBS and homocysteinuria (see below):

Multiple LOF variants classified as pathogenic or likely pathogenic in ClinVar and reported in the literature in multiple homozygote and compound heterozygote individuals affected with homocystinuria, e.g. c.19dup p.(Gln7fs) (PMID: 25218699; 12124992) and c.919G>A p.(Gly307Ser) (PMID: 7506602, 7581402, 8744616, 9889017, 23733603).

Multiple CBS variants reported in CBS deficiency (PMID: 12124992).

ClinGen classify as definitive for Homocysteinuria. Clingen states- Twenty-one unique variants were curated (missense, nonsense, frameshift, and splice site) in 15 probands from 8 publications, and three of these probands each had two affected siblings in whom CBS variants were identified (PMID 1301198, 10408774, 7762555, 12815602, 16307898, 25455305, 26667307, 29508359). Gene-disease relationship is supported by the biochemical function of CBS, which is consistent with the biochemical features in patients with homocystinuria (including elevated plasma total homocysteine and methionine) (PMID 13654400, 15890029), functional studies in yeast, bacteria, and cultured cells, including chaperone studies in fibroblasts from patients with homocystinuria (PMID 9590298, 25331909), as well as the biochemical and clinical features of mouse models (PMID 18987302) and enzyme replacement studies in mice (PMID 29398487).

Recent review reports on role of CBS in down syndrome (PMID: 31955501). However, caveat that multiple genes are associated with down syndrome. Not a strong body of research available linking CBS variants and down syndrome.
Mendeliome v1.521 UQCRH Zornitza Stark Classified gene: UQCRH as Amber List (moderate evidence)
Mendeliome v1.521 UQCRH Zornitza Stark Gene: uqcrh has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v1.24 DCLRE1B Manny Jacobs gene: DCLRE1B was added
gene: DCLRE1B was added to Bone Marrow Failure. Sources: Literature
Mode of inheritance for gene: DCLRE1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCLRE1B were set to 10699141; 20479256; 35007328
Phenotypes for gene: DCLRE1B were set to Dyskeratosis congenita, autosomal recessive 8
Review for gene: DCLRE1B was set to GREEN
Added comment: PMID 35007328
3 unrelated individuals with progressive bone marrow failure in early childhood. Other variable features reported: growth restriction, mild microcephaly (-2.5 SD), facial dysmorphism, and speech delay or learning difficulties, one patient with mucocutaneous features. Two individuals developed esophageal strictures and the third developed inflammatory ulcerative colitis.
2 patients chet for truncating/missense variant
1 patient hom for missense variant
Patient cell lines demonstrated telomere fragility and instability and an increase in spontaneous radial chromosomes, chromosome breaks and sister chromatid exchanges, as well as reduced cell survival. CRISPR introduction of one WT allele in one patient complemented DNA repair defects.

PMID: 20479256
One individual with Hoyeraal-Hreidarsson syndrome reported with shortened transcript in DCLRE1B of the patient’s cells; not seen in controls or other HH patients. Shortened transcript identified caused by intra-exonic splice of exon 4 leading to out-of-frame deletion causing premature stop codon (denoted splice variant “Apollo-Δ”) No molecular origin of splice variant could be identified and only linked to HH is by this one reported patient and the known DCLRE1B (SNM1B) role in telomere protection.
Sources: Literature
Mendeliome v1.520 FEM1C Zornitza Stark Marked gene: FEM1C as ready
Mendeliome v1.520 FEM1C Zornitza Stark Gene: fem1c has been classified as Green List (High Evidence).
Mendeliome v1.520 FEM1C Zornitza Stark Classified gene: FEM1C as Green List (high evidence)
Mendeliome v1.520 FEM1C Zornitza Stark Gene: fem1c has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5060 TCEAL1 Melanie Marty edited their review of gene: TCEAL1: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, TCEAL1-related, hypotonia, abnormal gait, developmental delay, intellectual disability, autism, dysmorphic facial features
Intellectual disability syndromic and non-syndromic v0.5060 CBS Lloyd Pereira reviewed gene: CBS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Homocysteinuria B6-responsive and nonresponsive types, Thrombosis hyperhomocysteinemic.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1809 TCEAL1 Melanie Marty edited their review of gene: TCEAL1: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, TCEAL1-related, hypotonia, abnormal gait, developmental delay, intellectual disability, autism, dysmorphic facial features
Genetic Epilepsy v0.1809 TCEAL1 Melanie Marty gene: TCEAL1 was added
gene: TCEAL1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: TCEAL1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: TCEAL1 were set to PMID: 36368327
Phenotypes for gene: TCEAL1 were set to Neurodevelopmental disorder, MONDO:0700092, TCEAL1-related hypotonia, abnormal gait, developmental delay, intellectual disability, autism, dysmorphic facial features.
Review for gene: TCEAL1 was set to AMBER
Added comment: 7 individuals (males and females) with de novo variants involving TCEAL1 with an X-linked
dominant neurodevelopmental syndrome. Individuals had hypotonia, abnormal gait, developmental delay/intellectual disability especially affecting expressive language, autistic-like behavior, and mildly dysmorphic facial features. Additional features included strabismus, refractive errors, variable nystagmus, gastroesophageal reflux, constipation, dysmotility, recurrent infections, seizures, and structural brain anomalies.

1 additional male individual with a maternally inherited missense variant (unaffected mother), which was considered a VUS. This individual had hypertonia and spasticity without syndromic features.

4 PTCs, 2 CNVs, 2 missense reported.

Only 2 individuals had seizures = amber for this panel at this stage.
Sources: Literature
Mendeliome v1.519 DCLRE1B Zornitza Stark Phenotypes for gene: DCLRE1B were changed from Dyskeratosis congenita and Hoyeraal-Hreidarsson (HH) syndrome to Dyskeratosis congenita, autosomal recessive 8, MIM# 620133
Mendeliome v1.518 DCLRE1B Zornitza Stark Publications for gene: DCLRE1B were set to 20479256; 21647296
Arrhythmogenic Cardiomyopathy v0.66 LEMD2 Seb Lunke Classified gene: LEMD2 as Amber List (moderate evidence)
Arrhythmogenic Cardiomyopathy v0.66 LEMD2 Seb Lunke Gene: lemd2 has been classified as Amber List (Moderate Evidence).
Arrhythmogenic Cardiomyopathy v0.65 LEMD2 Seb Lunke gene: LEMD2 was added
gene: LEMD2 was added to Arrhythmogenic Cardiomyopathy. Sources: Literature
founder tags were added to gene: LEMD2.
Mode of inheritance for gene: LEMD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LEMD2 were set to 31061923; 26788539; 30905398; 36377660
Phenotypes for gene: LEMD2 were set to arrhythmogenic right ventricular cardiomyopathy, MONDO:0016587
Penetrance for gene: LEMD2 were set to Incomplete
Review for gene: LEMD2 was set to AMBER
Added comment: Hom c38T>G LEMD2 variant associated with cataracts in 5 large Hutterite families, carriers at increased risk of sudden death associated with Arrhythmic dilated Cardiomyopathy. (pmid: 31061923, 26788539). Founder mutation, incomplete penetrance of cardiac phenotype likely.

Later, a separate de-novo variant, c.1436C>T, has been described in two unrelated patients with an early progeroid appearance. No cataract or other ocular phenotypes were observed despite multiple ophthalmological examinations. Cardiac phenotypes do not appear to have been assessed. (pmid: 30905398)

Most recently, Lemd2 knock-in mice for the c38T>G variants showed severe cardiomyopathy and premature death, which was rescued by AAV-Lemd2 vector induced overexpression. No indication of arrhythmia, cataract not assessed. (pmid: 36377660).

It appears the cardiac and cataract phenotypes remain to be linked to the founder variant only, while no additional evidence for the progeroid phenotype is available at this time.
Sources: Literature
Cataract v0.348 LEMD2 Seb Lunke Marked gene: LEMD2 as ready
Cataract v0.348 LEMD2 Seb Lunke Gene: lemd2 has been classified as Amber List (Moderate Evidence).
Regression v0.509 EPRS Lucy Spencer gene: EPRS was added
gene: EPRS was added to Regression. Sources: Literature
Mode of inheritance for gene: EPRS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPRS were set to 36411955, 29576217
Phenotypes for gene: EPRS were set to Leukodystrophy, hypomyelinating, 15, MIM#617951
Review for gene: EPRS was set to GREEN
Added comment: 5 patients across 2 papers, with delayed development (3/5) and/or regression, ataxia, dystonia, hypomyelinating leukodystrophy or periventricular white matter abnormality, 2 with epilepsy, 3 with optic atrophy, 2 with deafness, 3 with microcephaly, 1 noted to have some facial dysmorphism.
Sources: Literature
Cataract v0.348 LEMD2 Seb Lunke Classified gene: LEMD2 as Amber List (moderate evidence)
Cataract v0.348 LEMD2 Seb Lunke Gene: lemd2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.517 DCLRE1B Zornitza Stark Mode of inheritance for gene: DCLRE1B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.516 DCLRE1B Zornitza Stark Classified gene: DCLRE1B as Green List (high evidence)
Mendeliome v1.516 DCLRE1B Zornitza Stark Gene: dclre1b has been classified as Green List (High Evidence).
Mendeliome v1.515 DCLRE1B Zornitza Stark edited their review of gene: DCLRE1B: Added comment: Three additional families reported.; Changed rating: GREEN; Changed publications: 20479256, 21647296, 35007328
Cataract v0.347 LEMD2 Seb Lunke gene: LEMD2 was added
gene: LEMD2 was added to Cataract. Sources: Literature
founder tags were added to gene: LEMD2.
Mode of inheritance for gene: LEMD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LEMD2 were set to 31061923; 26788539; 30905398; 36377660
Phenotypes for gene: LEMD2 were set to Cataract 46, juvenile-onset, OMIM# 212500
Review for gene: LEMD2 was set to AMBER
Added comment: Hom c38T>G LEMD2 variant associated with cataracts in 5 large Hutterite families, carriers at increased risk of sudden death associated with Arrhythmic dilated Cardiomyopathy. (pmid: 31061923, 26788539). Founder mutation, incomplete penetrance of cardiac phenotype likely.

Later, a separate de-novo variant, c.1436C>T, has been described in two unrelated patients with an early progeroid appearance. No cataract or other ocular phenotypes were observed despite multiple ophthalmological examinations. Cardiac phenotypes do not appear to have been assessed. (pmid: 30905398)

Most recently, Lemd2 knock-in mice for the c38T>G variants showed severe cardiomyopathy and premature death, which was rescued by AAV-Lemd2 vector induced overexpression. No indication of arrhythmia, cataract not assessed. (pmid: 36377660).

It appears the cardiac and cataract phenotypes remain to be linked to the founder variant only, while no additional evidence for the progeroid phenotype is available at this time.
Sources: Literature
Regression v0.509 TCEAL1 Melanie Marty changed review comment from: 7 individuals (males and females) with de novo variants involving TCEAL1 with an X-linked
dominant neurodevelopmental syndrome. Individuals had hypotonia, abnormal gait, developmental delay/intellectual disability especially affecting expressive language, autistic-like behavior, and mildly dysmorphic facial features. Additional features included strabismus, refractive errors, variable nystagmus, gastroesophageal reflux, constipation, dysmotility, recurrent infections, seizures, and structural brain anomalies.

1 additional male individual with a maternally inherited missense variant (unaffected mother), which was considered a VUS. This individual had hypertonia and spasticity without syndromic features.

4 PTCs, 2 CNVs, 2 missense reported.

Only 2 individuals with regression = amber at this stage.
Sources: Literature; to: 7 individuals (males and females) with de novo variants involving TCEAL1 with an X-linked
dominant neurodevelopmental syndrome. Individuals had hypotonia, abnormal gait, developmental delay/intellectual disability especially affecting expressive language, autistic-like behavior, and mildly dysmorphic facial features. Additional features included strabismus, refractive errors, variable nystagmus, gastroesophageal reflux, constipation, dysmotility, recurrent infections, seizures, and structural brain anomalies.

1 additional male individual with a maternally inherited missense variant (unaffected mother), which was considered a VUS. This individual had hypertonia and spasticity without syndromic features.

4 PTCs, 2 CNVs, 2 missense reported.

Only 2 individuals with regression = amber for this panel at this stage.
Sources: Literature
Mendeliome v1.515 NUP54 Zornitza Stark Mode of pathogenicity for gene: NUP54 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None
Regression v0.509 TCEAL1 Melanie Marty gene: TCEAL1 was added
gene: TCEAL1 was added to Regression. Sources: Literature
Mode of inheritance for gene: TCEAL1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: TCEAL1 were set to PMID: 36368327
Phenotypes for gene: TCEAL1 were set to hypotonia, abnormal gait, developmental delay, intellectual disability, autism, dysmorphic facial features.
Review for gene: TCEAL1 was set to AMBER
Added comment: 7 individuals (males and females) with de novo variants involving TCEAL1 with an X-linked
dominant neurodevelopmental syndrome. Individuals had hypotonia, abnormal gait, developmental delay/intellectual disability especially affecting expressive language, autistic-like behavior, and mildly dysmorphic facial features. Additional features included strabismus, refractive errors, variable nystagmus, gastroesophageal reflux, constipation, dysmotility, recurrent infections, seizures, and structural brain anomalies.

1 additional male individual with a maternally inherited missense variant (unaffected mother), which was considered a VUS. This individual had hypertonia and spasticity without syndromic features.

4 PTCs, 2 CNVs, 2 missense reported.

Only 2 individuals with regression = amber at this stage.
Sources: Literature
Mendeliome v1.514 NUP54 Zornitza Stark Classified gene: NUP54 as Amber List (moderate evidence)
Mendeliome v1.514 NUP54 Zornitza Stark Gene: nup54 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.5060 GABRA3 Zornitza Stark Marked gene: GABRA3 as ready
Intellectual disability syndromic and non-syndromic v0.5060 GABRA3 Zornitza Stark Gene: gabra3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5060 GABRA3 Zornitza Stark Phenotypes for gene: GABRA3 were changed from Epilepsy, intellectual disability, dysmorphic features, to Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features, MIM# 301091
Mendeliome v1.513 NUP54 Hazel Phillimore gene: NUP54 was added
gene: NUP54 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NUP54 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP54 were set to PMID: 36333996
Phenotypes for gene: NUP54 were set to Early onset dystonia; progressive neurological deterioration; ataxia; dysarthria; dysphagia; hypotonia
Mode of pathogenicity for gene: NUP54 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: NUP54 was set to AMBER
Added comment: From PMID: 36333996.; Harrer, P. et al. (2022) Ann Neurol. doi: 10.1002/ana.26544.

Three patients from unrelated families with dystonia and/or Leigh(-like) syndromes, with biallelic variants in NUP54, in the C-terminal protein region that interacts with NUP62. Onset was between 12 months and 5 years. All had progressive neurological deterioration with dystonia, ataxia, dysarthria, dysphagia, hypotonia.

Patient / Family A (consanguineous) was homozygous for c.1073T>G p.(Ile358Ser).

Patient / Family B was compound heterozygous for c.1073T>G p.(Ile358Ser) and c.1126A>G p.(Lys376Glu).

Patient / Family C was compound heterozygosity for c.1410_1412del p.(Gln471del) and two missense variants c.1414G>A, p.(Glu472Lys); c.1420C>T, p.(Leu474Phe)

The phenotypes were similar to those of NUP62 including early-onset dystonia with dysphagic choreoathetosis, and T2-hyperintense lesions in striatum.

Brain MRIs showed T2/FLAIR hyperintensities in the dorsal putamina.

Western blots showing reduced expression of NUP54 and its interaction partners NUP62/NUP58 in patient fibroblasts.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5059 GABRA3 Alison Yeung Classified gene: GABRA3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5059 GABRA3 Alison Yeung Gene: gabra3 has been classified as Green List (High Evidence).
Mendeliome v1.513 GABRA3 Zornitza Stark Marked gene: GABRA3 as ready
Mendeliome v1.513 GABRA3 Zornitza Stark Gene: gabra3 has been classified as Green List (High Evidence).
Mendeliome v1.513 GABRA3 Zornitza Stark Phenotypes for gene: GABRA3 were changed from Epilepsy, intellectual disability, dysmorphic features, to Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features, MIM# 301091
Mendeliome v1.512 ARF3 Dean Phelan reviewed gene: ARF3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36369169, 34346499; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), ARF3-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.512 GABRA3 Zornitza Stark Classified gene: GABRA3 as Green List (high evidence)
Mendeliome v1.512 GABRA3 Zornitza Stark Gene: gabra3 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.137 EMILIN1 Karina Sandoval changed review comment from: Bi-allelic EMILIN1 loss-of-function variants causative for an entity combining cutis laxa, arterial tortuosity, aneurysm formation, and bone fragility, and transient osteopenia

4 families - Variants segregated in the all families, carriers
Fam 1. 2 affected, homozygous c.831dup consanguineous
Fam 2. 2 affected homozygous c.151del consanguineous
Fam 3. 1 affected chet
Fam 4. 1 affected homozygous c.1606C>T

Mouse models
All affected individuals presented with generalized arterial tortuosity and fractures; to: Bi-allelic EMILIN1 loss-of-function variants causative for an entity combining cutis laxa, arterial tortuosity, aneurysm formation, and bone fragility, and transient osteopenia

4 families - Variants segregated in the all families, carriers
Fam 1. 2 affected, homozygous c.831dup consanguineous
Fam 2. 2 affected homozygous c.151del consanguineous
Fam 3. 1 affected chet
Fam 4. 1 affected homozygous c.1606C>T

Mouse models
All affected individuals presented with generalized arterial tortuosity and fractures
Mendeliome v1.511 DCLRE1B Manny Jacobs reviewed gene: DCLRE1B: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 10699141, 20479256, 35007328; Phenotypes: Dyskeratosis congenita, autosomal recessive 8; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5058 ARF3 Zornitza Stark Marked gene: ARF3 as ready
Intellectual disability syndromic and non-syndromic v0.5058 ARF3 Zornitza Stark Gene: arf3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5058 ARF3 Zornitza Stark Phenotypes for gene: ARF3 were changed from Neurodevelopmental disorder (MONDO:0700092), ARF3-related; Global developmental delay; Intellectual disability; Seizures; Morphological abnormality of the central nervous system to Neurodevelopmental disorder (MONDO:0700092), ARF3-related; Global developmental delay; Intellectual disability; Seizures; Morphological abnormality of the central nervous system
Aortopathy_Connective Tissue Disorders v1.73 EMILIN1 Karina Sandoval gene: EMILIN1 was added
gene: EMILIN1 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature
Mode of inheritance for gene: EMILIN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: EMILIN1 were set to PMID: 36351433
Phenotypes for gene: EMILIN1 were set to Neuronopathy, distal hereditary motor, type X, MIM# 620080 Aortic aneurysm, MONDO:0005160, EMILIN2-related
Review for gene: EMILIN1 was set to GREEN
Added comment: Bi-allelic EMILIN1 loss-of-function variants causative for an entity combining cutis laxa, arterial tortuosity, aneurysm formation, and bone fragility, and transient osteopenia

4 families - Variants segregated in the all families, carriers
Fam 1. 2 affected, homozygous c.831dup consanguineous
Fam 2. 2 affected homozygous c.151del consanguineous
Fam 3. 1 affected chet
Fam 4. 1 affected homozygous c.1606C>T

Mouse models
All affected individuals presented with generalized arterial tortuosity and fractures
Sources: Literature
Mendeliome v1.511 NPC1 Naomi Baker gene: NPC1 was added
gene: NPC1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPC1 were set to 36417180
Phenotypes for gene: NPC1 were set to mitochondrial pyruvate carrier deficiency, MONDO:0013877, MPC2-related
Review for gene: NPC1 was set to AMBER
Added comment: Four patients from two unrelated consanguineous families reported with homozygous variants (missense and stop-loss). Siblings from family 1 were diagnosed prenatally with diffuse subcutaneous oedema, cardiomegaly, corpus callosum agenesis, ventriculomegaly and hypoplasia of the cerebellum. Siblings from family 2 had slightly different presentations, which included anoxo-ischemic encephalopathy, isolated dyspnea, neonatal respiratory distress, neonatal jaundice, hypotonia, visual impairment, microcephaly; both siblings had severe delayed psychomotor development. Immunoblot analysis of protein expression in lysates from patient-derived fibroblasts demonstrated reduced MPC1 and MPC2 protein levels.
Sources: Literature
Genetic Epilepsy v0.1809 ARF3 Dean Phelan reviewed gene: ARF3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36369169, 34346499; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), ARF3-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5057 ARF3 Zornitza Stark Phenotypes for gene: ARF3 were changed from Global developmental delay; Intellectual disability; Seizures; Morphological abnormality of the central nervous system to Neurodevelopmental disorder (MONDO:0700092), ARF3-related; Global developmental delay; Intellectual disability; Seizures; Morphological abnormality of the central nervous system
Intellectual disability syndromic and non-syndromic v0.5057 EPRS Alison Yeung Classified gene: EPRS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5057 EPRS Alison Yeung Gene: eprs has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5056 ARF3 Zornitza Stark Publications for gene: ARF3 were set to 34346499
Intellectual disability syndromic and non-syndromic v0.5055 ARF3 Zornitza Stark Classified gene: ARF3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5055 ARF3 Zornitza Stark Gene: arf3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5054 ARF3 Zornitza Stark Classified gene: ARF3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5054 ARF3 Zornitza Stark Gene: arf3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.848 MPC2 Naomi Baker gene: MPC2 was added
gene: MPC2 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: MPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPC2 were set to 36417180
Phenotypes for gene: MPC2 were set to mitochondrial pyruvate carrier deficiency, MONDO:0013877, MPC2-related
Review for gene: MPC2 was set to AMBER
Added comment: Four patients from two unrelated consanguineous families reported with homozygous variants (missense and stop-loss). Siblings from family 1 were diagnosed prenatally with diffuse subcutaneous oedema, cardiomegaly, corpus callosum agenesis, ventriculomegaly and hypoplasia of the cerebellum. Siblings from family 2 had slightly different presentations, which included anoxo-ischemic encephalopathy, isolated dyspnea, neonatal respiratory distress, neonatal jaundice, hypotonia, visual impairment, microcephaly; both siblings had severe delayed psychomotor development. Immunoblot analysis of protein expression in lysates from patient-derived fibroblasts demonstrated reduced MPC1 and MPC2 protein levels.
Sources: Literature
Mendeliome v1.511 EMILIN1 Zornitza Stark Publications for gene: EMILIN1 were set to PMID: 31978608; 26462740.
Mendeliome v1.510 EMILIN1 Zornitza Stark Phenotypes for gene: EMILIN1 were changed from Neuronopathy, distal hereditary motor, type X, MIM# 620080 to Neuronopathy, distal hereditary motor, type X, MIM# 620080; Aortic aneurysm, MONDO:0005160, EMILIN2-related
Mendeliome v1.509 EMILIN1 Zornitza Stark Mode of inheritance for gene: EMILIN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.508 EMILIN1 Zornitza Stark Classified gene: EMILIN1 as Green List (high evidence)
Mendeliome v1.508 EMILIN1 Zornitza Stark Gene: emilin1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1809 SHROOM4 Alison Yeung Classified gene: SHROOM4 as Green List (high evidence)
Genetic Epilepsy v0.1809 SHROOM4 Alison Yeung Gene: shroom4 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.127 SHROOM4 Alison Yeung Marked gene: SHROOM4 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.127 SHROOM4 Alison Yeung Gene: shroom4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5053 TCEAL1 Melanie Marty gene: TCEAL1 was added
gene: TCEAL1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: TCEAL1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: TCEAL1 were set to PMID: 36368327
Phenotypes for gene: TCEAL1 were set to hypotonia; abnormal gait; developmental delay; intellectual disability; autism; dysmorphic facial features.
Review for gene: TCEAL1 was set to GREEN
Added comment: 7 individuals (males and females) with de novo variants involving TCEAL1 with an X-linked
dominant neurodevelopmental syndrome. Individuals had hypotonia, abnormal gait, developmental delay/intellectual disability especially affecting expressive language, autistic-like behavior, and mildly dysmorphic facial features. Additional features included strabismus, refractive errors, variable nystagmus, gastroesophageal reflux, constipation, dysmotility, recurrent infections, seizures, and structural brain anomalies.

1 additional male individual with a maternally inherited missense variant (unaffected mother), which was considered a VUS. This individual had hypertonia and spasticity without syndromic features.

4 PTCs, 2 CNVs, 2 missense reported.
Sources: Literature
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.127 SHROOM4 Alison Yeung Classified gene: SHROOM4 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.127 SHROOM4 Alison Yeung Gene: shroom4 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1808 SHROOM4 Alison Yeung gene: SHROOM4 was added
gene: SHROOM4 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: SHROOM4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SHROOM4 were set to 35663265
Phenotypes for gene: SHROOM4 were set to epilepsy, idiopathic generalised, SHROOM4-related, MONDO:0005579
Review for gene: SHROOM4 was set to GREEN
Added comment: Six unrelated cases with idiopathic epilepsy without intellectual disability. SHROOM4 variants were all missense variants and were located around the N-terminal PDZ domain and the C-terminal ASD2 domain
Sources: Literature
Mendeliome v1.507 EMILIN1 Karina Sandoval reviewed gene: EMILIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36351433; Phenotypes: Neuronopathy, distal hereditary motor, type X, MIM# 620080, Peripheral neuropathy, aortic aneurysm; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1807 GABRA3 Zornitza Stark Marked gene: GABRA3 as ready
Genetic Epilepsy v0.1807 GABRA3 Zornitza Stark Gene: gabra3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1807 GABRA3 Zornitza Stark Phenotypes for gene: GABRA3 were changed from Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features, MIM# 301091 to Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features, MIM# 301091
Genetic Epilepsy v0.1807 GABRA3 Zornitza Stark Phenotypes for gene: GABRA3 were changed from Neurodevelopmental disorder, MONDO:0700092, GABRA3-related; Epilepsy, intellectual disability, dysmorphic features, to Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features, MIM# 301091
Genetic Epilepsy v0.1806 GABRA3 Zornitza Stark Phenotypes for gene: GABRA3 were changed from Neurodevelopmental disorder, MONDO:0700092, GABRA3-related; Epilepsy, intellectual disability, dysmorphic features, to Neurodevelopmental disorder, MONDO:0700092, GABRA3-related; Epilepsy, intellectual disability, dysmorphic features,
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.125 SHROOM4 Alison Yeung gene: SHROOM4 was added
gene: SHROOM4 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature
Mode of inheritance for gene: SHROOM4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SHROOM4 were set to 36379543
Phenotypes for gene: SHROOM4 were set to Congenital anomaly of the kidney and urinary tracy (CAKUT), SHROOM4-related, MONDO:0019719
Review for gene: SHROOM4 was set to GREEN
Added comment: Six individuals from four unrelated families with CAKUT. Embryonic mouse and zebrafish expression studies showed Shroom4 expression in the upper and lower urinary tract, the developing cloaca, the heart and the cerebral CNS. KD studies in zebrafish larvae revealed pronephric cysts, anomalies of the cloaca and the heart, decreased eye-to-head ratio and higher mortality compared with controls. These phenotypes could be rescued by co-injection of human wild-type SHROOM4 mRNA and morpholino. Variants included one missense, one splice variant and two CNVs (deletions).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5053 ARF3 Dean Phelan reviewed gene: ARF3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36369169, 34346499; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), ARF3-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1806 GABRA3 Zornitza Stark Phenotypes for gene: GABRA3 were changed from Epilepsy, intellectual disability, dysmorphic features, to Neurodevelopmental disorder, MONDO:0700092, GABRA3-related; Epilepsy, intellectual disability, dysmorphic features,
Hereditary Neuropathy v0.137 EMILIN1 Karina Sandoval reviewed gene: EMILIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36351433; Phenotypes: Neuronopathy, distal hereditary motor, type X, MIM# 620080, Peripheral neuropathy, aortic aneurysm; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.125 SHROOM4 Alison Yeung gene: SHROOM4 was added
gene: SHROOM4 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature
Mode of inheritance for gene: SHROOM4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SHROOM4 were set to 36379543
Phenotypes for gene: SHROOM4 were set to Congenital anomaly of the kidney and urinary tracy (CAKUT), SHROOM4-related, MONDO:0019719
Review for gene: SHROOM4 was set to GREEN
Added comment: Six individuals from four unrelated families with CAKUT. Embryonic mouse and zebrafish expression studies showed Shroom4 expression in the upper and lower urinary tract, the developing cloaca, the heart and the cerebral CNS. KD studies in zebrafish larvae revealed pronephric cysts, anomalies of the cloaca and the heart, decreased eye-to-head ratio and higher mortality compared with controls. These phenotypes could be rescued by co-injection of human wild-type SHROOM4 mRNA and morpholino. Variants included one missense, one splice variant and two CNVs (deletions).
Sources: Literature
Genetic Epilepsy v0.1805 GABRA3 Zornitza Stark Classified gene: GABRA3 as Green List (high evidence)
Genetic Epilepsy v0.1805 GABRA3 Zornitza Stark Gene: gabra3 has been classified as Green List (High Evidence).
Mendeliome v1.507 GABRA3 Sarah Pantaleo gene: GABRA3 was added
gene: GABRA3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GABRA3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: GABRA3 were set to PMID: 29053855
Phenotypes for gene: GABRA3 were set to Epilepsy, intellectual disability, dysmorphic features,
Penetrance for gene: GABRA3 were set to Incomplete
Review for gene: GABRA3 was set to GREEN
Added comment: Six variants in GABRA3 encoding the alpha3-subunit of the GABA(A) receptor.
Five missense variants and one micro duplication were detected in four families and two sporadic cases presenting with a range of epileptic seizure types, a varying degree of intellectual disability and developmental delay, sometimes with dysmorphic features or nystagmus.
The variants co-segregated mostly but not completely with the phenotype in the families, indicating in some cases incomplete penetrance, involvement of other genes, or presence of phenocopies.
Overall, males were more severely affected and there were three asymptomatic female mutation carriers compared to only one male without a clinical phenotype.
Mechanism suggested - three detected missense variants are localised in the extracellular GABA-binding NH2-terminus, one in the M2-M3 linker and one in the M4 transmembrane segment of the alpha3-subunit. Functional studies in Xenopus leaves oocytes revealed a variable but significant reduction of GABA-evoked anion currents for all mutants compared to wild-type receptors. The degree of current reduction correlated partially with the phenotype.
Results reveal that rare loss-of-function variants in GABRA3 increase the risk for a varying combination of epilepsy, intellectual disability/developmental delay and dysmorphic features, presenting in some pedigrees with an X-linked inheritance pattern.
Sources: Literature
Genetic Epilepsy v0.1804 GABRA3 Zornitza Stark Classified gene: GABRA3 as Green List (high evidence)
Genetic Epilepsy v0.1804 GABRA3 Zornitza Stark Gene: gabra3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5053 EPRS Lucy Spencer gene: EPRS was added
gene: EPRS was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: EPRS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPRS were set to 29576217, 36411955
Phenotypes for gene: EPRS were set to Leukodystrophy, hypomyelinating, 15 (MIM#617951)
Review for gene: EPRS was set to GREEN
Added comment: 5 patients across 2 papers, with delayed development (3/5) and/or regression, ataxia, dystonia, hypomyelinating leukodystrophy or periventricular white matter, 2 with epilepsy, 3 with optic atrophy, 2 with deafness, 2 with micrcephaly, 1 noted to have some facial dysmorphism.
Sources: Literature
Fetal anomalies v1.79 KDM2B Ain Roesley Marked gene: KDM2B as ready
Fetal anomalies v1.79 KDM2B Ain Roesley Gene: kdm2b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5053 GABRA3 Sarah Pantaleo gene: GABRA3 was added
gene: GABRA3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: GABRA3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: GABRA3 were set to PMID: 29053855
Phenotypes for gene: GABRA3 were set to Epilepsy, intellectual disability, dysmorphic features,
Penetrance for gene: GABRA3 were set to Incomplete
Review for gene: GABRA3 was set to GREEN
Added comment: Six variants in GABRA3 encoding the alpha3-subunit of the GABA(A) receptor.
Five missense variants and one micro duplication were detected in four families and two sporadic cases presenting with a range of epileptic seizure types, a varying degree of intellectual disability and developmental delay, sometimes with dysmorphic features or nystagmus.
The variants co-segregated mostly but not completely with the phenotype in the families, indicating in some cases incomplete penetrance, involvement of other genes, or presence of phenocopies.
Overall, males were more severely affected and there were three asymptomatic female mutation carriers compared to only one male without a clinical phenotype.
Mechanism suggested - three detected missense variants are localised in the extracellular GABA-binding NH2-terminus, one in the M2-M3 linker and one in the M4 transmembrane segment of the alpha3-subunit. Functional studies in Xenopus leaves oocytes revealed a variable but significant reduction of GABA-evoked anion currents for all mutants compared to wild-type receptors. The degree of current reduction correlated partially with the phenotype.
Results reveal that rare loss-of-function variants in GABRA3 increase the risk for a varying combination of epilepsy, intellectual disability/developmental delay and dysmorphic features, presenting in some pedigrees with an X-linked inheritance pattern.
Sources: Literature
Fetal anomalies v1.79 KDM2B Ain Roesley Classified gene: KDM2B as Green List (high evidence)
Fetal anomalies v1.79 KDM2B Ain Roesley Gene: kdm2b has been classified as Green List (High Evidence).
Mendeliome v1.507 TCEAL1 Zornitza Stark Marked gene: TCEAL1 as ready
Mendeliome v1.507 TCEAL1 Zornitza Stark Gene: tceal1 has been classified as Green List (High Evidence).
Fetal anomalies v1.78 KDM2B Ain Roesley gene: KDM2B was added
gene: KDM2B was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: KDM2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM2B were set to 36322151
Phenotypes for gene: KDM2B were set to neurodevelopmental disorder MONDO#070009, KDM2B-related
Review for gene: KDM2B was set to GREEN
gene: KDM2B was marked as current diagnostic
Added comment: 27 individuals from 22 families were recruited
13 SNV classified LP/P, all de novo except 2 familial cases
5 variants were classified as VUS if more than 1 het is present in gnomAD or does result in a KDM2B-specific episignature (therefore suggesting normal function)

14 families with SNVs and a variety of cardiac anomalies including ASD, VSD, MR, PDA, PFO, Atrial septal aneurysm and Mild mitral insufficiency
Sources: Literature
Mendeliome v1.507 TCEAL1 Zornitza Stark Phenotypes for gene: TCEAL1 were changed from hypotonia, abnormal gait, developmental delay, intellectual disability, autism, dysmorphic facial features. to Neurodevelopmental disorder, MONDO:0700092, TCEAL1-related; hypotonia, abnormal gait, developmental delay, intellectual disability, autism, dysmorphic facial features.
Fetal anomalies v1.77 SHROOM4 Alison Yeung Classified gene: SHROOM4 as Green List (high evidence)
Fetal anomalies v1.77 SHROOM4 Alison Yeung Gene: shroom4 has been classified as Green List (High Evidence).
Fetal anomalies v1.76 SHROOM4 Alison Yeung reviewed gene: SHROOM4: Rating: GREEN; Mode of pathogenicity: None; Publications: 36379543; Phenotypes: Congenital anomaly of the kidney and urinary tracy (CAKUT), SHROOM4-related, MONDO:0019719; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v1.506 TCEAL1 Zornitza Stark Classified gene: TCEAL1 as Green List (high evidence)
Mendeliome v1.506 TCEAL1 Zornitza Stark Gene: tceal1 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.269 KDM2B Ain Roesley Classified gene: KDM2B as Green List (high evidence)
Congenital Heart Defect v0.269 KDM2B Ain Roesley Gene: kdm2b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1803 GABRA3 Sarah Pantaleo gene: GABRA3 was added
gene: GABRA3 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: GABRA3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: GABRA3 were set to PMID: 29053855
Phenotypes for gene: GABRA3 were set to Epilepsy, intellectual disability, dysmorphic features,
Penetrance for gene: GABRA3 were set to Incomplete
Review for gene: GABRA3 was set to GREEN
Added comment: Six variants in GABRA3 encoding the alpha3-subunit of the GABA(A) receptor.
Five missense variants and one micro duplication were detected in four families and two sporadic cases presenting with a range of epileptic seizure types, a varying degree of intellectual disability and developmental delay, sometimes with dysmorphic features or nystagmus.
The variants co-segregated mostly but not completely with the phenotype in the families, indicating in some cases incomplete penetrance, involvement of other genes, or presence of phenocopies.
Overall, males were more severely affected and there were three asymptomatic female mutation carriers compared to only one male without a clinical phenotype.
Mechanism suggested - three detected missense variants are localised in the extracellular GABA-binding NH2-terminus, one in the M2-M3 linker and one in the M4 transmembrane segment of the alpha3-subunit. Functional studies in Xenopus leaves oocytes revealed a variable but significant reduction of GABA-evoked anion currents for all mutants compared to wild-type receptors. The degree of current reduction correlated partially with the phenotype.
Results reveal that rare loss-of-function variants in GABRA3 increase the risk for a varying combination of epilepsy, intellectual disability/developmental delay and dysmorphic features, presenting in some pedigrees with an X-linked inheritance pattern.
Sources: Literature
Congenital Heart Defect v0.269 KDM2B Ain Roesley Classified gene: KDM2B as Green List (high evidence)
Congenital Heart Defect v0.269 KDM2B Ain Roesley Gene: kdm2b has been classified as Green List (High Evidence).
Mendeliome v1.505 TCEAL1 Melanie Marty changed review comment from: 7 individuals (males and females) with de novo variants involving TCEAL1 with an X-linked
dominant neurodevelopmental syndrome. Individuals had hypotonia, abnormal gait, developmental delay/intellectual disability especially affecting expressive language, autistic-like behavior, and mildly dysmorphic facial features. Additional features included strabismus, refractive errors, variable nystagmus, gastroesophageal reflux, constipation, dysmotility, recurrent infections, seizures, and structural brain anomalies.

1 additional male individual with a maternally inherited missense variant (unaffected mother), which was considered a VUS. This individual had hypertonia and spasticity without syndromic features.

4 PTCs, 2 CNVs, 2 missense reported.
Sources: Literature; to: 7 individuals (males and females) with de novo variants involving TCEAL1 with an X-linked
dominant neurodevelopmental syndrome. Individuals had hypotonia, abnormal gait, developmental delay/intellectual disability especially affecting expressive language, autistic-like behavior, and mildly dysmorphic facial features. Additional features included strabismus, refractive errors, variable nystagmus, gastroesophageal reflux, constipation, dysmotility, recurrent infections, seizures, and structural brain anomalies.

1 additional male individual with a maternally inherited missense variant (unaffected mother), which was considered a VUS. This individual had hypertonia and spasticity without syndromic features.

4 PTCs, 2 CNVs, 2 missense reported.
Sources: Literature
Mendeliome v1.505 SHROOM4 Alison Yeung Classified gene: SHROOM4 as Green List (high evidence)
Mendeliome v1.505 SHROOM4 Alison Yeung Gene: shroom4 has been classified as Green List (High Evidence).
Mendeliome v1.504 TCEAL1 Melanie Marty changed review comment from: 7 individuals (males and females) with de novo variants involving TCEAL1 with an X-linked
dominant neurodevelopmental syndrome. Individuals had hypotonia, abnormal gait, developmental delay/intellectual disability especially affecting expressive language, autistic-like behavior, and mildly dysmorphic facial features. Additional features included strabismus, refractive errors, variable nystagmus, gastroesophageal reflux, constipation, dysmotility, recurrent infections, seizures, and structural brain anomalies.

1 additional male individual with a maternally inherited missense variant (unaffected mother), which was considered a VUS. This individual had hypertonia and spasticity without syndromic features.

4 PTCs, 2 CNVs, 2 missense reported.
Sources: Literature; to: 7 individuals (males and females) with de novo variants involving TCEAL1 with an X-linked
dominant neurodevelopmental syndrome. Individuals had hypotonia, abnormal gait, developmental delay/intellectual disability especially affecting expressive language, autistic-like behavior, and mildly dysmorphic facial features. Additional features included strabismus, refractive errors, variable nystagmus, gastroesophageal reflux, constipation, dysmotility, recurrent infections, seizures, and structural brain anomalies.

1 additional male individual with a maternally inherited missense variant (unaffected mother), which was considered a VUS. This individual had hypertonia and spasticity without syndromic features.

4 PTCs, 2 CNVs, 2 missense reported.
Sources: Literature
Congenital Heart Defect v0.268 KDM2B Ain Roesley Marked gene: KDM2B as ready
Congenital Heart Defect v0.268 KDM2B Ain Roesley Gene: kdm2b has been classified as Red List (Low Evidence).
Mendeliome v1.504 TCEAL1 Melanie Marty changed review comment from: 7 individuals (males and females) with de novo variants involving TCEAL1. Individuals had hypotonia, abnormal gait, developmental delay/intellectual disability especially affecting expressive language, autistic-like behavior, and mildly dysmorphic facial features. Additional features included strabismus, refractive errors, variable nystagmus, gastroesophageal reflux, constipation, dysmotility, recurrent infections, seizures, and structural brain anomalies.

1 additional male individual with a maternally inherited missense variant (unaffected mother), which was considered a VUS. This individual had hypertonia and spasticity without syndromic features.

4 PTCs, 2 CNVs, 2 missense reported.
Sources: Literature; to: 7 individuals (males and females) with de novo variants involving TCEAL1 with an X-linked
dominant neurodevelopmental syndrome. Individuals had hypotonia, abnormal gait, developmental delay/intellectual disability especially affecting expressive language, autistic-like behavior, and mildly dysmorphic facial features. Additional features included strabismus, refractive errors, variable nystagmus, gastroesophageal reflux, constipation, dysmotility, recurrent infections, seizures, and structural brain anomalies.

1 additional male individual with a maternally inherited missense variant (unaffected mother), which was considered a VUS. This individual had hypertonia and spasticity without syndromic features.

4 PTCs, 2 CNVs, 2 missense reported.
Sources: Literature
Congenital Heart Defect v0.268 KDM2B Ain Roesley gene: KDM2B was added
gene: KDM2B was added to Congenital Heart Defect. Sources: Literature
Mode of inheritance for gene: KDM2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM2B were set to 36322151
Phenotypes for gene: KDM2B were set to neurodevelopmental disorder MONDO#070009, KDM2B-related
Review for gene: KDM2B was set to GREEN
gene: KDM2B was marked as current diagnostic
Added comment: 27 individuals from 22 families were recruited
13 SNV classified LP/P, all de novo except 2 familial cases
5 variants were classified as VUS if more than 1 het is present in gnomAD or does result in a KDM2B-specific episignature (therefore suggesting normal function)

14 families with SNVs and a variety of cardiac anomalies including ASD, VSD, MR, PDA, PFO, Atrial septal aneurysm and Mild mitral insufficiency
Sources: Literature
Mitochondrial disease v0.848 UQCRH Zornitza Stark Classified gene: UQCRH as Amber List (moderate evidence)
Mitochondrial disease v0.848 UQCRH Zornitza Stark Gene: uqcrh has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.847 UQCRH Zornitza Stark Marked gene: UQCRH as ready
Mitochondrial disease v0.847 UQCRH Zornitza Stark Gene: uqcrh has been classified as Amber List (Moderate Evidence).
Mendeliome v1.504 SHROOM4 Alison Yeung reviewed gene: SHROOM4: Rating: GREEN; Mode of pathogenicity: None; Publications: 36379543, 35663265; Phenotypes: Congenital anomaly of the kidney and urinary tracy (CAKUT), SHROOM4-related, MONDO:0019719, epilepsy, idiopathic generalised, SHROOM4-related, MONDO:0005579; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v1.504 UQCRH Chern Lim gene: UQCRH was added
gene: UQCRH was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: UQCRH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UQCRH were set to 34750991
Phenotypes for gene: UQCRH were set to Mitochondrial complex III deficiency, nuclear type 11, MIM#620137
Review for gene: UQCRH was set to AMBER
gene: UQCRH was marked as current diagnostic
Added comment: PMID: 34750991:
- Two affected cousins, presented with recurrent episodes of severe lactic acidosis, hyperammonaemia, hypoglycaemia and encephalopathy.
- Both have a 2.2 kb homozygous deletion of exons 2 and 3 of UQCRH, predicted to culminate in an in-frame deletion exons 2 and 3 of the four-exon UQCRH gene, resulting in a shortened product.
- Mouse model with the equivalent homozygous Uqcrh deletion (Uqcrh-/-) also presented with lactic acidosis and hyperammonaemia, but had a more severe, non-episodic phenotype, resulting in failure to thrive and early death.
- Patient fibroblasts and Uqcrh-/- mouse tissues showed a CIII defect.
- Expression of wild-type UQCRH in patient fibroblasts ameliorates the CIII defect.
Sources: Literature
Mitochondrial disease v0.847 UQCRH Zornitza Stark Classified gene: UQCRH as Amber List (moderate evidence)
Mitochondrial disease v0.847 UQCRH Zornitza Stark Gene: uqcrh has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.5053 FEM1C Zornitza Stark Marked gene: FEM1C as ready
Intellectual disability syndromic and non-syndromic v0.5053 FEM1C Zornitza Stark Gene: fem1c has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5053 FEM1C Zornitza Stark Classified gene: FEM1C as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5053 FEM1C Zornitza Stark Gene: fem1c has been classified as Green List (High Evidence).
Mendeliome v1.504 FEM1C Paul De Fazio gene: FEM1C was added
gene: FEM1C was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FEM1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FEM1C were set to 36336956; 28135719; 33398170; 33398168
Phenotypes for gene: FEM1C were set to Neurodevelopmental disorder, FEM1C-related MONDO:0700092
Review for gene: FEM1C was set to GREEN
gene: FEM1C was marked as current diagnostic
Added comment: PMID:36336956 describes a 9-year-old boy with severe DD, lack of speech, pyramidal signs, and limb ataxia who had a de novo missense variant Asp126His in FEM1C ascertained by WES. The equivalent variant introduced into the nematode C.elegans resulted in disabled locomotion caused by synaptic abnormalities and not muscle dysfunction.

An alternate change Asp126Val was reported in the DDD study de novo in a patient with uncharacterised developmental delay (PMID:28135719).

The Asp126 residue (but not either of the variants above specifically) was shown to be functionally important by in vitro studies (PMID:33398170;33398168). The residue is highly conserved and located in a region of missense constraint.

Borderline green, 2 patients and an animal model. Note all evidence points to the Asp126 residue being of specific importance.
Sources: Literature
Periventricular Grey Matter Heterotopia v1.1 ARF1 Daniel Flanagan reviewed gene: ARF1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36345169; Phenotypes: Periventricular nodular heterotopia 8 (MIM#618185); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.504 TCEAL1 Melanie Marty gene: TCEAL1 was added
gene: TCEAL1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TCEAL1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: TCEAL1 were set to PMID: 36368327
Phenotypes for gene: TCEAL1 were set to hypotonia, abnormal gait, developmental delay, intellectual disability, autism, dysmorphic facial features.
Review for gene: TCEAL1 was set to GREEN
Added comment: 7 individuals (males and females) with de novo variants involving TCEAL1. Individuals had hypotonia, abnormal gait, developmental delay/intellectual disability especially affecting expressive language, autistic-like behavior, and mildly dysmorphic facial features. Additional features included strabismus, refractive errors, variable nystagmus, gastroesophageal reflux, constipation, dysmotility, recurrent infections, seizures, and structural brain anomalies.

1 additional male individual with a maternally inherited missense variant (unaffected mother), which was considered a VUS. This individual had hypertonia and spasticity without syndromic features.

4 PTCs, 2 CNVs, 2 missense reported.
Sources: Literature
Mitochondrial disease v0.846 UQCRH Chern Lim gene: UQCRH was added
gene: UQCRH was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: UQCRH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UQCRH were set to 34750991
Phenotypes for gene: UQCRH were set to Mitochondrial complex III deficiency, nuclear type 11, MIM#620137
Review for gene: UQCRH was set to AMBER
gene: UQCRH was marked as current diagnostic
Added comment: PMID: 34750991:
- Two affected cousins, presented with recurrent episodes of severe lactic acidosis, hyperammonaemia, hypoglycaemia and encephalopathy.
- Both have a 2.2 kb homozygous deletion of exons 2 and 3 of UQCRH, predicted to culminate in an in-frame deletion exons 2 and 3 of the four-exon UQCRH gene, resulting in a shortened product.
- Mouse model with the equivalent homozygous Uqcrh deletion (Uqcrh-/-) also presented with lactic acidosis and hyperammonaemia, but had a more severe, non-episodic phenotype, resulting in failure to thrive and early death.
- Patient fibroblasts and Uqcrh-/- mouse tissues showed a CIII defect.
- Expression of wild-type UQCRH in patient fibroblasts ameliorates the CIII defect.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5052 FEM1C Paul De Fazio gene: FEM1C was added
gene: FEM1C was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: FEM1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FEM1C were set to 36336956; 28135719; 33398170; 33398168
Phenotypes for gene: FEM1C were set to Neurodevelopmental disorder, FEM1C-related MONDO:0700092
Review for gene: FEM1C was set to GREEN
gene: FEM1C was marked as current diagnostic
Added comment: PMID:36336956 describes a 9-year-old boy with severe DD, lack of speech, pyramidal signs, and limb ataxia who had a de novo missense variant Asp126His in FEM1C ascertained by WES. The equivalent variant introduced into the nematode C.elegans resulted in disabled locomotion caused by synaptic abnormalities and not muscle dysfunction.

An alternate change Asp126Val was reported in the DDD study de novo in a patient with uncharacterised developmental delay (PMID:28135719).

The Asp126 residue (but not either of the variants above specifically) was shown to be functionally important by in vitro studies (PMID:33398170;33398168). The residue is highly conserved and located in a region of missense constraint.

Borderline green, 2 patients and an animal model. Note all evidence points to the Asp126 residue being of specific importance.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5052 KDM2B Ain Roesley Classified gene: KDM2B as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5052 KDM2B Ain Roesley Gene: kdm2b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5051 KDM2B Ain Roesley Marked gene: KDM2B as ready
Intellectual disability syndromic and non-syndromic v0.5051 KDM2B Ain Roesley Gene: kdm2b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5051 KDM2B Ain Roesley Classified gene: KDM2B as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5051 KDM2B Ain Roesley Gene: kdm2b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5050 KDM2B Ain Roesley gene: KDM2B was added
gene: KDM2B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: KDM2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM2B were set to 36322151
Phenotypes for gene: KDM2B were set to neurodevelopmental disorder MONDO#070009, KDM2B-related
Review for gene: KDM2B was set to GREEN
gene: KDM2B was marked as current diagnostic
Added comment: 27 individuals from 22 families were recruited
13 SNV classified LP/P, all de novo except 2 familial cases
5 variants were classified as VUS if more than 1 het is present in gnomAD or does result in a KDM2B-specific episignature (therefore suggesting normal function)
Sources: Literature
Mendeliome v1.504 KDM2B Ain Roesley changed review comment from: 27 individuals from 22 families were recruited
12 SNV classified LP/P, all de novo except 2 familial cases
5 variants were classified as VUS if more than 1 het is present in gnomAD or does result in a KDM2B-specific episignature (therefore suggesting normal function)
Sources: Literature; to: 27 individuals from 22 families were recruited
13 SNV classified LP/P, all de novo except 2 familial cases
5 variants were classified as VUS if more than 1 het is present in gnomAD or does result in a KDM2B-specific episignature (therefore suggesting normal function)
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5049 MAN2A2 Zornitza Stark Marked gene: MAN2A2 as ready
Intellectual disability syndromic and non-syndromic v0.5049 MAN2A2 Zornitza Stark Gene: man2a2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.5049 MAN2A2 Zornitza Stark gene: MAN2A2 was added
gene: MAN2A2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: MAN2A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAN2A2 were set to 36357165
Phenotypes for gene: MAN2A2 were set to Congenital disorder of glycosylation, MONDO:0015286, MAN2A2-reated
Review for gene: MAN2A2 was set to RED
Added comment: Single consanguineous family reported with homozygous truncating variant in two brothers with ID. Supportive biochemical data only
Sources: Literature
Mendeliome v1.504 KDM2B Ain Roesley Marked gene: KDM2B as ready
Mendeliome v1.504 KDM2B Ain Roesley Gene: kdm2b has been classified as Green List (High Evidence).
Mendeliome v1.504 KDM2B Ain Roesley Classified gene: KDM2B as Green List (high evidence)
Mendeliome v1.504 KDM2B Ain Roesley Gene: kdm2b has been classified as Green List (High Evidence).
Mendeliome v1.503 MAN2A2 Zornitza Stark Marked gene: MAN2A2 as ready
Mendeliome v1.503 MAN2A2 Zornitza Stark Gene: man2a2 has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v1.29 MAN2A2 Zornitza Stark Marked gene: MAN2A2 as ready
Congenital Disorders of Glycosylation v1.29 MAN2A2 Zornitza Stark Gene: man2a2 has been classified as Red List (Low Evidence).
Mendeliome v1.503 KDM2B Ain Roesley gene: KDM2B was added
gene: KDM2B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KDM2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM2B were set to 36322151
Phenotypes for gene: KDM2B were set to neurodevelopmental disorder MONDO#070009, KDM2B-related
Review for gene: KDM2B was set to GREEN
gene: KDM2B was marked as current diagnostic
Added comment: 27 individuals from 22 families were recruited
12 SNV classified LP/P, all de novo except 2 familial cases
5 variants were classified as VUS if more than 1 het is present in gnomAD or does result in a KDM2B-specific episignature (therefore suggesting normal function)
Sources: Literature
Mendeliome v1.502 MAN2A2 Zornitza Stark gene: MAN2A2 was added
gene: MAN2A2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MAN2A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAN2A2 were set to 36357165
Phenotypes for gene: MAN2A2 were set to Congenital disorder of glycosylation, MONDO:0015286, MAN2A2-reated
Review for gene: MAN2A2 was set to RED
Added comment: Single consanguineous family reported with homozygous truncating variant in two brothers with ID. Supportive biochemical data only.
Sources: Literature
Congenital Disorders of Glycosylation v1.29 MAN2A2 Zornitza Stark gene: MAN2A2 was added
gene: MAN2A2 was added to Congenital Disorders of Glycosylation. Sources: Literature
Mode of inheritance for gene: MAN2A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAN2A2 were set to 36357165
Phenotypes for gene: MAN2A2 were set to Congenital disorder of glycosylation, MONDO:0015286, MAN2A2-reated
Review for gene: MAN2A2 was set to RED
Added comment: Single consanguineous family reported with homozygous truncating variant in two brothers with ID. Supportive biochemical data only.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5048 CDK10 Zornitza Stark Marked gene: CDK10 as ready
Intellectual disability syndromic and non-syndromic v0.5048 CDK10 Zornitza Stark Gene: cdk10 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5048 CDK10 Zornitza Stark Phenotypes for gene: CDK10 were changed from to Al Kaissi syndrome MIM#617694
Intellectual disability syndromic and non-syndromic v0.5047 CDK10 Zornitza Stark Publications for gene: CDK10 were set to
Intellectual disability syndromic and non-syndromic v0.5046 CDK10 Zornitza Stark Mode of inheritance for gene: CDK10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5045 CDK10 Zornitza Stark reviewed gene: CDK10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Al Kaissi syndrome MIM#617694; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5045 EXOSC3 Zornitza Stark Marked gene: EXOSC3 as ready
Intellectual disability syndromic and non-syndromic v0.5045 EXOSC3 Zornitza Stark Gene: exosc3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5045 EXOSC3 Zornitza Stark Phenotypes for gene: EXOSC3 were changed from to Pontocerebellar hypoplasia, type 1B, MIM# 614678
Intellectual disability syndromic and non-syndromic v0.5044 EXOSC3 Zornitza Stark Publications for gene: EXOSC3 were set to
Intellectual disability syndromic and non-syndromic v0.5043 EXOSC3 Zornitza Stark Mode of inheritance for gene: EXOSC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5042 EXOSC3 Zornitza Stark reviewed gene: EXOSC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 1B, MIM# 614678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5042 ARPC4 Zornitza Stark Marked gene: ARPC4 as ready
Intellectual disability syndromic and non-syndromic v0.5042 ARPC4 Zornitza Stark Gene: arpc4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5042 ARPC4 Zornitza Stark Classified gene: ARPC4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5042 ARPC4 Zornitza Stark Gene: arpc4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5041 ARPC4 Zornitza Stark gene: ARPC4 was added
gene: ARPC4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ARPC4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARPC4 were set to 35047857
Phenotypes for gene: ARPC4 were set to Developmental delay, language impairment, and ocular abnormalities, MIM# 620141
Review for gene: ARPC4 was set to GREEN
Added comment: 7 affected individuals from 6 families (gonadal mosaicism was confirmed in the mother of the 2 affected siblings) with a recurrent missense variant (NM_005718.4:c.472C>T; p.R158C). 6/7 affected individuals had microcephaly. The variant was associated with a decreased amount of F-actin in cells from two affected individuals.
Sources: Literature
Microcephaly v1.172 ARPC4 Zornitza Stark edited their review of gene: ARPC4: Changed phenotypes: Developmental delay, language impairment, and ocular abnormalities, MIM# 620141
Mendeliome v1.501 ARPC4 Zornitza Stark Phenotypes for gene: ARPC4 were changed from Neurodevelopmental disorder, ARPC4-related MONDO#0700092 to Developmental delay, language impairment, and ocular abnormalities, MIM# 620141
Mendeliome v1.500 ARPC4 Zornitza Stark edited their review of gene: ARPC4: Changed phenotypes: Developmental delay, language impairment, and ocular abnormalities, MIM# 620141
Rhabdomyolysis and Metabolic Myopathy v0.91 MLIP Zornitza Stark Phenotypes for gene: MLIP were changed from MLIP-related myopathy with rhabdomyolysis to Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MIM# 620138
Rhabdomyolysis and Metabolic Myopathy v0.90 MLIP Zornitza Stark reviewed gene: MLIP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MIM# 620138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.500 MLIP Zornitza Stark Phenotypes for gene: MLIP were changed from MLIP-related myopathy with rhabdomyolysis to Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MIM# 620138
Mendeliome v1.499 MLIP Zornitza Stark reviewed gene: MLIP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MIM# 620138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Tubulopathies and related disorders v0.1 Chirag Patel Panel types changed to Victorian Clinical Genetics Services; KidGen; Genetic Health Queensland; Royal Melbourne Hospital
Renal Tubulopathies and related disorders v0.0 Chirag Patel Added panel Renal Tubulopathies and related disorders
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.123 AGTR1 Chirag Patel Classified gene: AGTR1 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.123 AGTR1 Chirag Patel Gene: agtr1 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.122 REN Chirag Patel Classified gene: REN as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.122 REN Chirag Patel Gene: ren has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.122 AGTR1 Chirag Patel Classified gene: AGTR1 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.122 AGTR1 Chirag Patel Gene: agtr1 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.121 AGTR1 Chirag Patel gene: AGTR1 was added
gene: AGTR1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Expert list
Mode of inheritance for gene: AGTR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGTR1 were set to PMID: 16116425
Phenotypes for gene: AGTR1 were set to Renal tubular dysgenesis, MIM# 267430
Review for gene: AGTR1 was set to GREEN
Added comment: Three unrelated families reported.

Autosomal recessive renal tubular dysgenesis is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios. Absence or paucity of differentiated proximal tubules is the histopathologic hallmark of the disorder and may be associated with skull ossification defects.
Sources: Expert list
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.120 REN Chirag Patel gene: REN was added
gene: REN was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Expert list
Mode of inheritance for gene: REN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: REN were set to PMID: 16116425
Phenotypes for gene: REN were set to Renal tubular dysgenesis, MIM# 267430
Review for gene: REN was set to GREEN
Added comment: Well established gene disease association.

Autosomal recessive renal tubular dysgenesis is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios. Absence or paucity of differentiated proximal tubules is the histopathologic hallmark of the disorder and may be associated with skull ossification defects.
Sources: Expert list
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.120 AGT Chirag Patel Classified gene: AGT as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.120 AGT Chirag Patel Gene: agt has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.119 AGT Chirag Patel gene: AGT was added
gene: AGT was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Expert list
Mode of inheritance for gene: AGT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGT were set to PMID: 16116425, 34234805, 33163725
Phenotypes for gene: AGT were set to Renal tubular dysgenesis, MIM# 267430
Review for gene: AGT was set to GREEN
Added comment: Well established gene-disease association, more than 10 unrelated families reported.

Autosomal recessive renal tubular dysgenesis is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios. Absence or paucity of differentiated proximal tubules is the histopathologic hallmark of the disorder and may be associated with skull ossification defects.
Sources: Expert list
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.118 ACE Chirag Patel Classified gene: ACE as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.118 ACE Chirag Patel Gene: ace has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.117 ACE Chirag Patel gene: ACE was added
gene: ACE was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Expert list
Mode of inheritance for gene: ACE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACE were set to PMID: 16116425, 22095942
Phenotypes for gene: ACE were set to Renal tubular dysgenesis, MIM# 267430
Review for gene: ACE was set to GREEN
Added comment: Autosomal recessive renal tubular dysgenesis is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios. Absence or paucity of differentiated proximal tubules is the histopathologic hallmark of the disorder and may be associated with skull ossification defects. More than 60 families reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.5040 EXOSC3 Michelle Dang changed review comment from: Association with global developmental delay, hypotonia, hyperreflexia, cerebellar (+/- pontine) atrophy with variable severity. Assessment of cognitive function/IQ limited by motor and speech impairments. Severe forms associated with early deaths during infancy periods. Intellectual impairment/psychomotor retardation (to varying degrees) reported in all cases across varying degrees of severity (23284067). Zanni et al (23975261) identified 2 individuals with compound heterozygous mutations resulting in intellectual impairment and early onset spasticity. Wan et al (22544365) described global developmental delay in addition to cerebellar features and spinal motor degeneration.; to: Association with global developmental delay, hypotonia, hyperreflexia, cerebellar (+/- pontine) atrophy with variable severity. Assessment of cognitive function/IQ limited by motor and speech impairments. Severe forms associated with early deaths during infancy periods.
Intellectual impairment/psychomotor retardation (to varying degrees) reported in all cases across varying degrees of severity (23284067). Zanni et al (23975261) identified 2 individuals with compound heterozygous mutations resulting in intellectual impairment and early onset spasticity. Wan et al (22544365) described global developmental delay in addition to cerebellar features and spinal motor degeneration, with functional effects of the mutation reproduced with knocked down endogenous expression of exosc3 in zebrafish embryos and subsequent rescue of the phenotype by co-injection with wild-type zebrafish exosc3 mRNA.
Intellectual disability syndromic and non-syndromic v0.5040 EXOSC3 Michelle Dang changed review comment from: Association with global developmental delay, hypotonia, hyperreflexia, cerebellar (+/- pontine) atrophy with variable severity. Assessment of cognitive function/IQ limited by motor and speech impairments. Severe forms associated with early deaths during infancy periods. Intellectual impairment/psychomotor retardation (to varying degrees) reported in all cases across various severity (23284067). Zanni et al (23975261) identified 2 individuals with compound heterozygous mutations resulting in intellectual impairment and early onset spasticity. Wan et al (22544365) described global developmental delay in addition to cerebellar features and spinal motor degeneration.; to: Association with global developmental delay, hypotonia, hyperreflexia, cerebellar (+/- pontine) atrophy with variable severity. Assessment of cognitive function/IQ limited by motor and speech impairments. Severe forms associated with early deaths during infancy periods. Intellectual impairment/psychomotor retardation (to varying degrees) reported in all cases across varying degrees of severity (23284067). Zanni et al (23975261) identified 2 individuals with compound heterozygous mutations resulting in intellectual impairment and early onset spasticity. Wan et al (22544365) described global developmental delay in addition to cerebellar features and spinal motor degeneration.
Intellectual disability syndromic and non-syndromic v0.5040 EXOSC3 Michelle Dang Deleted their comment
Intellectual disability syndromic and non-syndromic v0.5040 EXOSC3 Michelle Dang edited their review of gene: EXOSC3: Added comment: Association with global developmental delay, hypotonia, hyperreflexia, cerebellar (+/- pontine) atrophy with variable severity. Assessment of cognitive function/IQ limited by motor and speech impairments. Severe forms associated with early deaths during infancy periods. Intellectual impairment/psychomotor retardation (to varying degrees) reported in all cases across various severity (23284067). Zanni et al (23975261) identified 2 individuals with compound heterozygous mutations resulting in intellectual impairment and early onset spasticity. Wan et al (22544365) described global developmental delay in addition to cerebellar features and spinal motor degeneration.; Changed phenotypes: Cerebellar atrophy, Developmental delay, Lower motor neuron degeneration, Upper motor neuron features, Spasticity/hyperreflexia (+/-)
Intellectual disability syndromic and non-syndromic v0.5040 EXOSC3 Michelle Dang changed review comment from: Association with global developmental delay, hypotonia, hyperreflexia, cerebellar (+/- pontine) atrophy. Variable severity. Assessment of cognitive function/IQ limited by motor and speech impairments. Severe forms associated with early deaths during infancy periods. Intellectual impairment (to varying degrees) reported in all cases across various severity.; to: Association with global developmental delay, hypotonia, hyperreflexia, cerebellar (+/- pontine) atrophy with variable severity. Assessment of cognitive function/IQ limited by motor and speech impairments. Severe forms associated with early deaths during infancy periods. Intellectual impairment/psychomotor retardation (to varying degrees) reported in all cases across various severity (23284067). Zanni et al (23975261) identified 2 individuals with compound heterozygous mutations resulting in intellectual impairment and early onset spasticity. Wan et al (22544365) described global developmental delay in addition to cerebellar features and spinal motor degeneration.
Intellectual disability syndromic and non-syndromic v0.5040 EXOSC3 Michelle Dang reviewed gene: EXOSC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22544365, 23975261, 25149867, 23284067; Phenotypes: 23284067, 25149867; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v1.57 EXOSC3 Michelle Dang reviewed gene: EXOSC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22544365, 23975261, 25149867, 24524299; Phenotypes: 24524299, 23284067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5040 CDK10 Lyndon Gallacher reviewed gene: CDK10: Rating: ; Mode of pathogenicity: None; Publications: 28886341; Phenotypes: Severe growth retardation, spine malformation, facial dysmorphisms, developmental delay, intellectual disability; 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
Intellectual disability syndromic and non-syndromic v0.5040 DOCK8 Chirag Patel Classified gene: DOCK8 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.5040 DOCK8 Chirag Patel Gene: dock8 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.5039 DOCK8 Chirag Patel reviewed gene: DOCK8: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29930340; Phenotypes: ; Mode of inheritance: None
Angelman Rett like syndromes v1.6 HECTD4 Zornitza Stark Marked gene: HECTD4 as ready
Angelman Rett like syndromes v1.6 HECTD4 Zornitza Stark Gene: hectd4 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v1.6 HECTD4 Zornitza Stark Classified gene: HECTD4 as Green List (high evidence)
Angelman Rett like syndromes v1.6 HECTD4 Zornitza Stark Gene: hectd4 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v1.5 HECTD4 Zornitza Stark gene: HECTD4 was added
gene: HECTD4 was added to Angelman Rett like syndromes. Sources: Literature
Mode of inheritance for gene: HECTD4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HECTD4 were set to Neurodevelopmental disorder, MONDO:0700092, HECTD4-related
Review for gene: HECTD4 was set to GREEN
Added comment: 7 patients/5 families with syndromic neurodevelopmental, seizure, and movement disorders and neurobehavioral phenotypes. WES found bi-allelic variants in HECTD4. The RNA studies in some patients with LoF variants provided evidence for the LoF effect.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5039 HECTD4 Zornitza Stark Phenotypes for gene: HECTD4 were changed from Neurodevelopmental disorder, MONDO:0700092, HECTD4-related to Neurodevelopmental disorder, MONDO:0700092, HECTD4-related
Intellectual disability syndromic and non-syndromic v0.5039 HECTD4 Zornitza Stark Marked gene: HECTD4 as ready
Intellectual disability syndromic and non-syndromic v0.5039 HECTD4 Zornitza Stark Gene: hectd4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5039 HECTD4 Zornitza Stark Phenotypes for gene: HECTD4 were changed from Neurodevelopmental disorder overlapping Angelman syndrome, no OMIM# to Neurodevelopmental disorder, MONDO:0700092, HECTD4-related
Intellectual disability syndromic and non-syndromic v0.5038 HECTD4 Zornitza Stark reviewed gene: HECTD4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, HECTD4-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Angelman Rett like syndromes v1.4 UBE3C Zornitza Stark Marked gene: UBE3C as ready
Angelman Rett like syndromes v1.4 UBE3C Zornitza Stark Gene: ube3c has been classified as Green List (High Evidence).
Angelman Rett like syndromes v1.4 UBE3C Zornitza Stark Classified gene: UBE3C as Green List (high evidence)
Angelman Rett like syndromes v1.4 UBE3C Zornitza Stark Gene: ube3c has been classified as Green List (High Evidence).
Angelman Rett like syndromes v1.3 UBE3C Zornitza Stark gene: UBE3C was added
gene: UBE3C was added to Angelman Rett like syndromes. Sources: Literature
Mode of inheritance for gene: UBE3C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UBE3C were set to Neurodevelopmental disorder, MONDO:0700092, UBE3C-related
Review for gene: UBE3C was set to GREEN
Added comment: 3 patients/2 families with syndromic neurodevelopmental, seizure, and movement disorders and neurobehavioral phenotypes. WES found bi-allelic variants in UBE3C. The RNA studies in some patients with LoF variants provided evidence for the LoF effect.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5038 UBE3C Zornitza Stark Marked gene: UBE3C as ready
Intellectual disability syndromic and non-syndromic v0.5038 UBE3C Zornitza Stark Gene: ube3c has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5038 UBE3C Zornitza Stark Phenotypes for gene: UBE3C were changed from Neurodevelopmental disorder overlapping Angelman syndrome, no OMIM# to Neurodevelopmental disorder, MONDO:0700092, UBE3C-related
Intellectual disability syndromic and non-syndromic v0.5037 UBE3C Zornitza Stark reviewed gene: UBE3C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, UBE3C-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.499 UBE3C Zornitza Stark Marked gene: UBE3C as ready
Mendeliome v1.499 UBE3C Zornitza Stark Gene: ube3c has been classified as Green List (High Evidence).
Mendeliome v1.499 UBE3C Zornitza Stark Phenotypes for gene: UBE3C were changed from Neurodevelopmental disorder overlapping Angelman syndrome, no OMIM# to Neurodevelopmental disorder, MONDO:0700092, UBE3C-related
Mendeliome v1.498 UBE3C Zornitza Stark reviewed gene: UBE3C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, UBE3C-related; 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
Intellectual disability syndromic and non-syndromic v0.5037 KIF26A Zornitza Stark Marked gene: KIF26A as ready
Intellectual disability syndromic and non-syndromic v0.5037 KIF26A Zornitza Stark Gene: kif26a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5037 KIF26A Zornitza Stark Phenotypes for gene: KIF26A were changed from Congenital brain malformations, no OMIM # to Cerebral malformation MONDO:0016054, KIF26-related
Intellectual disability syndromic and non-syndromic v0.5036 KIF26A Zornitza Stark reviewed gene: KIF26A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral malformation MONDO:0016054, KIF26-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.182 KIF26A Zornitza Stark Marked gene: KIF26A as ready
Polymicrogyria and Schizencephaly v0.182 KIF26A Zornitza Stark Gene: kif26a has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.182 KIF26A Zornitza Stark Phenotypes for gene: KIF26A were changed from Congenital brain malformations, no OMIM # to Cerebral malformation MONDO:0016054, KIF26-related
Polymicrogyria and Schizencephaly v0.181 KIF26A Zornitza Stark reviewed gene: KIF26A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral malformation MONDO:0016054, KIF26-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.498 KIF26A Zornitza Stark Marked gene: KIF26A as ready
Mendeliome v1.498 KIF26A Zornitza Stark Gene: kif26a has been classified as Green List (High Evidence).
Mendeliome v1.498 KIF26A Zornitza Stark Phenotypes for gene: KIF26A were changed from Congenital brain malformations, no OMIM # to Cerebral malformation MONDO:0016054, KIF26-related
Mendeliome v1.497 KIF26A Zornitza Stark reviewed gene: KIF26A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral malformation MONDO:0016054, KIF26-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Metal Metabolism Disorders v0.31 BMP6 Zornitza Stark Phenotypes for gene: BMP6 were changed from Iron overload, mild to moderate to {Iron overload, susceptibility to} 620121
Metal Metabolism Disorders v0.30 BMP6 Zornitza Stark edited their review of gene: BMP6: Changed phenotypes: {Iron overload, susceptibility to} 620121
Mendeliome v1.497 BMP6 Zornitza Stark Phenotypes for gene: BMP6 were changed from Iron overload, mild to moderate to {Iron overload, susceptibility to} 620121
Mendeliome v1.496 BMP6 Zornitza Stark edited their review of gene: BMP6: Changed phenotypes: {Iron overload, susceptibility to} 620121
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 Downie 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 Downie 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 Downie 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 Downie 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 Downie 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
Intellectual disability syndromic and non-syndromic v0.5036 UBE3C Chirag Patel Classified gene: UBE3C as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5036 UBE3C Chirag Patel Gene: ube3c has been classified as Green List (High Evidence).
Mendeliome v1.496 UBE3C Chirag Patel Classified gene: UBE3C as Green List (high evidence)
Mendeliome v1.496 UBE3C Chirag Patel Gene: ube3c has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5035 UBE3C Chirag Patel gene: UBE3C was added
gene: UBE3C was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: UBE3C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBE3C were set to PMID: 36401616
Phenotypes for gene: UBE3C were set to Neurodevelopmental disorder overlapping Angelman syndrome, no OMIM#
Review for gene: UBE3C was set to GREEN
Added comment: 3 patients/2 families with syndromic neurodevelopmental, seizure, and movement disorders and neurobehavioral phenotypes. WES found bi-allelic variants in UBE3C. The RNA studies in some patients with LoF variants provided evidence for the LoF effect.
Sources: Literature
Mendeliome v1.495 UBE3C Chirag Patel gene: UBE3C was added
gene: UBE3C was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: UBE3C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBE3C were set to PMID: 36401616
Phenotypes for gene: UBE3C were set to Neurodevelopmental disorder overlapping Angelman syndrome, no OMIM#
Review for gene: UBE3C was set to GREEN
Added comment: 3 patients/2 families with syndromic neurodevelopmental, seizure, and movement disorders and neurobehavioral phenotypes. WES found bi-allelic variants in UBE3C. The RNA studies in some patients with LoF variants provided evidence for the LoF effect.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5034 HECTD4 Chirag Patel Classified gene: HECTD4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5034 HECTD4 Chirag Patel Gene: hectd4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5033 HECTD4 Chirag Patel gene: HECTD4 was added
gene: HECTD4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: HECTD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HECTD4 were set to PMID: 36401616
Phenotypes for gene: HECTD4 were set to Neurodevelopmental disorder overlapping Angelman syndrome, no OMIM#
Review for gene: HECTD4 was set to GREEN
Added comment: 7 patients/5 families with syndromic neurodevelopmental, seizure, and movement disorders and neurobehavioral phenotypes. WES found bi-allelic variants in HECTD4. The RNA studies in some patients with LoF variants provided evidence for the LoF effect.
Sources: Literature
Mendeliome v1.494 HECTD4 Chirag Patel Classified gene: HECTD4 as Green List (high evidence)
Mendeliome v1.494 HECTD4 Chirag Patel Gene: hectd4 has been classified as Green List (High Evidence).
Mendeliome v1.493 HECTD4 Chirag Patel gene: HECTD4 was added
gene: HECTD4 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: HECTD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HECTD4 were set to PMID: 36401616
Phenotypes for gene: HECTD4 were set to Neurodevelopmental disorder overlapping Angelman syndrome, no OMIM#
Review for gene: HECTD4 was set to GREEN
Added comment: 7 patients/5 families with syndromic neurodevelopmental, seizure, and movement disorders and neurobehavioral phenotypes. WES found bi-allelic variants in HECTD4. The RNA studies in some patients with LoF variants provided evidence for the LoF effect.
Sources: Literature
Mendeliome v1.492 KIF26A Chirag Patel Classified gene: KIF26A as Green List (high evidence)
Mendeliome v1.492 KIF26A Chirag Patel Gene: kif26a has been classified as Green List (High Evidence).
Mendeliome v1.491 KIF26A Chirag Patel gene: KIF26A was added
gene: KIF26A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KIF26A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF26A were set to PMID: 36228617
Phenotypes for gene: KIF26A were set to Congenital brain malformations, no OMIM #
Review for gene: KIF26A was set to GREEN
Added comment: 5 unrelated patients with biallelic loss-of-function variants in KIF26A (found through WES), exhibiting a spectrum of congenital brain malformations (schizencephaly, corpus callosum anomalies, polymicrgyria, and ventriculomegaly). Combining mice and human iPSC-derived organoid models, they discovered that loss of KIF26A causes excitatory neuron-specific defects in radial migration, localization, dendritic and axonal growth, and apoptosis, offering a convincing explanation of the disease etiology in patients. Single-cell RNA sequencing in KIF26A knockout organoids revealed transcriptional changes in MAPK, MYC, and E2F pathways.
Sources: Literature
Polymicrogyria and Schizencephaly v0.181 KIF26A Chirag Patel Classified gene: KIF26A as Green List (high evidence)
Polymicrogyria and Schizencephaly v0.181 KIF26A Chirag Patel Gene: kif26a has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.180 KIF26A Chirag Patel gene: KIF26A was added
gene: KIF26A was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: KIF26A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF26A were set to PMID: 36228617
Phenotypes for gene: KIF26A were set to Congenital brain malformations, no OMIM #
Review for gene: KIF26A was set to GREEN
Added comment: 5 unrelated patients with biallelic loss-of-function variants in KIF26A (found through WES), exhibiting a spectrum of congenital brain malformations (schizencephaly, corpus callosum anomalies, polymicrgyria, and ventriculomegaly). Combining mice and human iPSC-derived organoid models, they discovered that loss of KIF26A causes excitatory neuron-specific defects in radial migration, localization, dendritic and axonal growth, and apoptosis, offering a convincing explanation of the disease etiology in patients. Single-cell RNA sequencing in KIF26A knockout organoids revealed transcriptional changes in MAPK, MYC, and E2F pathways.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5032 KIF26A Chirag Patel Classified gene: KIF26A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5032 KIF26A Chirag Patel Gene: kif26a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5031 KIF26A Chirag Patel gene: KIF26A was added
gene: KIF26A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: KIF26A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF26A were set to PMID: 36228617
Phenotypes for gene: KIF26A were set to Congenital brain malformations, no OMIM #
Review for gene: KIF26A was set to GREEN
Added comment: 5 unrelated patients with biallelic loss-of-function variants in KIF26A (found through WES), exhibiting a spectrum of congenital brain malformations (schizencephaly, corpus callosum anomalies, polymicrgyria, and ventriculomegaly). Combining mice and human iPSC-derived organoid models, they discovered that loss of KIF26A causes excitatory neuron-specific defects in radial migration, localization, dendritic and axonal growth, and apoptosis, offering a convincing explanation of the disease etiology in patients. Single-cell RNA sequencing in KIF26A knockout organoids revealed transcriptional changes in MAPK, MYC, and E2F pathways.
Sources: Literature
Hypophosphataemia or rickets v0.38 Bryony Thompson Panel status changed from public to retired
Hypertension and Aldosterone disorders v1.12 Chirag Patel Panel name changed from Renal Hypertension and Disorders of Aldosterone Metabolism to Hypertension and Aldosterone disorders
Panel types changed to Victorian Clinical Genetics Services; KidGen; Rare Disease; Genetic Health Queensland
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).
Mitochondrial disease v0.846 TAMM41 Zornitza Stark Phenotypes for gene: TAMM41 were changed from Combined oxidative phosphorylation deficiency-56 (COXPD56), MIM#620139; hypotonia; developmental delay; myopathy; ptosis to Combined oxidative phosphorylation deficiency-56 (COXPD56), MIM#620139; hypotonia; developmental delay; myopathy; ptosis
Mitochondrial disease v0.845 TAMM41 Zornitza Stark Phenotypes for gene: TAMM41 were changed from inborn mitochondrial metabolism disorder MONDO:0004069; hypotonia; developmental delay; myopathy; ptosis to Combined oxidative phosphorylation deficiency-56 (COXPD56), MIM#620139; hypotonia; developmental delay; myopathy; ptosis
Mitochondrial disease v0.844 TAMM41 Zornitza Stark reviewed gene: TAMM41: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency-56 (COXPD56), MIM#620139; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.490 TAMM41 Zornitza Stark Phenotypes for gene: TAMM41 were changed from inborn mitochondrial metabolism disorder MONDO:0004069; hypotonia; developmental delay; myopathy; ptosis to Combined oxidative phosphorylation deficiency-56 (COXPD56), MIM#620139; hypotonia; developmental delay; myopathy; ptosis
Mendeliome v1.489 TAMM41 Zornitza Stark reviewed gene: TAMM41: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency-56 (COXPD56), MIM#620139; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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
Mendeliome v1.489 PIGN Zornitza Stark edited their review of gene: PIGN: Added comment: Large cohort study of 21 new and review of 40 previously published cases in PMID 36322149

Biallelic-truncating variants were detected in 16 patients-10 with Fryns syndrome, 1 with MCAHS1, 2 with Fryns syndrome/MCAHS1, and 3 with neurologic phenotype. There was an increased risk of prenatal or neonatal death within this group (6 deaths were in utero or within 2 months of life; 6 pregnancies were terminated). Incidence of polyhydramnios, congenital anomalies (eg, diaphragmatic hernia), and dysmorphism was significantly increased. Biallelic missense or mixed genotype were reported in the remaining 45 cases-32 showed a neurologic phenotype and 12 had MCAHS1. No cases of diaphragmatic hernia or abdominal wall defects were seen in this group except patient 1 in which we found the missense variant p.Ser893Arg to result in functionally null alleles, suggesting the possibility of an undescribed functionally important region in the final exon.; Changed publications: 36322149; Changed phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563, Fryns syndrome
Mendeliome v1.489 PIGN Zornitza Stark Phenotypes for gene: PIGN were changed from Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563 to Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563; Fryns syndrome
Mendeliome v1.488 SPTAN1 Zornitza Stark Publications for gene: SPTAN1 were set to 20493457; 22258530; 32811770; 33578420; 31332438
Mendeliome v1.487 SPTAN1 Zornitza Stark Mode of inheritance for gene: SPTAN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.486 SPTAN1 Zornitza Stark edited their review of gene: SPTAN1: Added comment: PMID 36331550: further 31 individuals reported with mono-allelic variants. Three phenotypes observed:
1. DEE
2. Isolated DD/ID
3. HSP or ataxia; Changed publications: 20493457, 22258530, 32811770, 35150594, 34526651, 31515523, 36331550
Intellectual disability syndromic and non-syndromic v0.5030 SPTAN1 Zornitza Stark Publications for gene: SPTAN1 were set to 20493457; 22258530; 32811770
Intellectual disability syndromic and non-syndromic v0.5029 SPTAN1 Zornitza Stark edited their review of gene: SPTAN1: Added comment: Another 21 individuals reported in PMID 36331550; some had DEE and others had isolated ID.; Changed publications: 20493457, 22258530, 32811770, 36331550
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.
Renal Macrocystic Disease v0.63 LRP5 Zornitza Stark edited their review of gene: LRP5: Added comment: ClinGen assessment is LIMITED (2020).; Changed phenotypes: Polycystic liver disease 4 with or without kidney cysts, MIM# 617875
Cancer Predisposition_Paediatric v0.128 FBXW7 Zornitza Stark Phenotypes for gene: FBXW7 were changed from Predisposition to cancer to Wilms tumour, hereditary, MONDO:0003321, FBXW7-related
Cancer Predisposition_Paediatric v0.127 FBXW7 Zornitza Stark Classified gene: FBXW7 as Amber List (moderate evidence)
Cancer Predisposition_Paediatric v0.127 FBXW7 Zornitza Stark Gene: fbxw7 has been classified as Amber List (Moderate Evidence).
Cancer Predisposition_Paediatric v0.126 FBXW7 Zornitza Stark reviewed gene: FBXW7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Wilms tumour, hereditary, MONDO:0003321, FBXW7-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polycystic liver disease v1.7 SEC16B Zornitza Stark Marked gene: SEC16B as ready
Polycystic liver disease v1.7 SEC16B Zornitza Stark Gene: sec16b has been classified as Amber List (Moderate Evidence).
Polycystic liver disease v1.7 SEC16B Zornitza Stark Classified gene: SEC16B as Amber List (moderate evidence)
Polycystic liver disease v1.7 SEC16B Zornitza Stark Gene: sec16b has been classified as Amber List (Moderate Evidence).
Polycystic liver disease v1.6 SEC16B Zornitza Stark gene: SEC16B was added
gene: SEC16B was added to Polycystic liver disease. Sources: Expert Review
Mode of inheritance for gene: SEC16B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEC16B were set to 28375157; 28862642; 30652979
Phenotypes for gene: SEC16B were set to Polycystic liver disease (with or without kidney cysts), MONDO:0000447, SEC16B-related
Review for gene: SEC16B was set to AMBER
Added comment: Two unrelated individuals with limited supporting functional data reported. Assessed as LIMITED by ClinGen.
Sources: Expert Review
Mendeliome v1.486 SEC16B Zornitza Stark Marked gene: SEC16B as ready
Mendeliome v1.486 SEC16B Zornitza Stark Gene: sec16b has been classified as Amber List (Moderate Evidence).
Mendeliome v1.486 SEC16B Zornitza Stark Classified gene: SEC16B as Amber List (moderate evidence)
Mendeliome v1.486 SEC16B Zornitza Stark Gene: sec16b has been classified as Amber List (Moderate Evidence).
Mendeliome v1.485 SEC16B Zornitza Stark gene: SEC16B was added
gene: SEC16B was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: SEC16B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEC16B were set to 28375157; 28862642; 30652979
Phenotypes for gene: SEC16B were set to Polycystic liver disease (with or without kidney cysts), MONDO:0000447, SEC16B-related
Review for gene: SEC16B was set to AMBER
Added comment: Two unrelated individuals with limited supporting functional data reported. Assessed as LIMITED by ClinGen.
Sources: Expert Review
Renal Macrocystic Disease v0.63 SEC16B Zornitza Stark Marked gene: SEC16B as ready
Renal Macrocystic Disease v0.63 SEC16B Zornitza Stark Gene: sec16b has been classified as Amber List (Moderate Evidence).
Renal Macrocystic Disease v0.63 SEC16B Zornitza Stark Phenotypes for gene: SEC16B were changed from Polycystic liver disease with or without renal cysts, no OMIM # to Polycystic liver disease (with or without kidney cysts), MONDO:0000447, SEC16B-related
Renal Macrocystic Disease v0.62 SEC16B Zornitza Stark Classified gene: SEC16B as Amber List (moderate evidence)
Renal Macrocystic Disease v0.62 SEC16B Zornitza Stark Gene: sec16b has been classified as Amber List (Moderate Evidence).
Renal Macrocystic Disease v0.61 SEC16B Zornitza Stark reviewed gene: SEC16B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic liver disease (with or without kidney cysts), MONDO:0000447, SEC16B-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal Macrocystic Disease v0.61 ALG8 Zornitza Stark Marked gene: ALG8 as ready
Renal Macrocystic Disease v0.61 ALG8 Zornitza Stark Gene: alg8 has been classified as Green List (High Evidence).
Mendeliome v1.484 ADAMTS9 Zornitza Stark Phenotypes for gene: ADAMTS9 were changed from Nephronophthisis-Related Ciliopathy to Nephropathy-related ciliopathy, MONDO:0022409, ADAMTS9-related
Ciliopathies v1.40 ADAMTS9 Zornitza Stark Phenotypes for gene: ADAMTS9 were changed from Nephronophthisis-Related Ciliopathy to Nephropathy-related ciliopathy, MONDO:0022409, ADAMTS9-related
Renal Ciliopathies and Nephronophthisis v1.17 ADAMTS9 Zornitza Stark Phenotypes for gene: ADAMTS9 were changed from Nephronophthisis-Related Ciliopathy to Nephropathy-related ciliopathy, MONDO:0022409, ADAMTS9-related
Renal Ciliopathies and Nephronophthisis v1.16 DCDC2 Zornitza Stark Publications for gene: DCDC2 were set to 25557784; 31821705; 27469900
Renal Ciliopathies and Nephronophthisis v1.16 DCDC2 Zornitza Stark Publications for gene: DCDC2 were set to 25557784; 31821705
Hypertension and Aldosterone disorders v1.11 HSD3B2 Zornitza Stark Marked gene: HSD3B2 as ready
Hypertension and Aldosterone disorders v1.11 HSD3B2 Zornitza Stark Gene: hsd3b2 has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v1.11 CYP21A2 Zornitza Stark Marked gene: CYP21A2 as ready
Hypertension and Aldosterone disorders v1.11 CYP21A2 Zornitza Stark Gene: cyp21a2 has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v1.11 CYP17A1 Zornitza Stark Marked gene: CYP17A1 as ready
Hypertension and Aldosterone disorders v1.11 CYP17A1 Zornitza Stark Gene: cyp17a1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.144 NDUFB7 Zornitza Stark Marked gene: NDUFB7 as ready
Cardiomyopathy_Paediatric v0.144 NDUFB7 Zornitza Stark Gene: ndufb7 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.144 NDUFB7 Zornitza Stark Classified gene: NDUFB7 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v0.144 NDUFB7 Zornitza Stark Gene: ndufb7 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.143 NDUFB7 Zornitza Stark gene: NDUFB7 was added
gene: NDUFB7 was added to Cardiomyopathy_Paediatric. Sources: Expert Review
Mode of inheritance for gene: NDUFB7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFB7 were set to 33502047; 27626371
Phenotypes for gene: NDUFB7 were set to Mitochondrial complex I deficiency nuclear type 39 (MC1DN39), MIM#620135
Review for gene: NDUFB7 was set to AMBER
Added comment: Single patient with a homozygous variant impacting RNA splicing (c.113-10C>G) with intrauterine growth restriction and anaemia, which displayed postpartum hypertrophic cardiomyopathy, lactic acidosis, encephalopathy, and a severe complex I defect with fatal outcome. Also, a supporting knockout cell line model demonstrating impaired complex I assembly.
Sources: Expert Review
Mitochondrial disease v0.844 NDUFB7 Zornitza Stark reviewed gene: NDUFB7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency nuclear type 39 (MC1DN39), MIM#620135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.483 NDUFB7 Zornitza Stark Phenotypes for gene: NDUFB7 were changed from Congenital lactic acidosis; hypertrophic cardiomyopathy to Mitochondrial complex I deficiency nuclear type 39 (MC1DN39), MIM#620135; Congenital lactic acidosis; hypertrophic cardiomyopathy
Mendeliome v1.482 NDUFB7 Zornitza Stark reviewed gene: NDUFB7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency nuclear type 39 (MC1DN39), MIM#620135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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
Medulloblastoma v0.9 Zornitza Stark removed gene:PHOX2B from the panel
Medulloblastoma v0.8 GPR161 Zornitza Stark Classified gene: GPR161 as Green List (high evidence)
Medulloblastoma v0.8 GPR161 Zornitza Stark Gene: gpr161 has been classified as Green List (High Evidence).
Medulloblastoma v0.7 GPR161 Zornitza Stark gene: GPR161 was added
gene: GPR161 was added to Medulloblastoma. Sources: Expert Review
Mode of inheritance for gene: GPR161 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GPR161 were set to {Medulloblastoma predisposition syndrome} 155255
Review for gene: GPR161 was set to GREEN
Added comment: Sources: Expert Review
Medulloblastoma v0.6 ELP1 Zornitza Stark Classified gene: ELP1 as Green List (high evidence)
Medulloblastoma v0.6 ELP1 Zornitza Stark Gene: elp1 has been classified as Green List (High Evidence).
Medulloblastoma v0.5 ELP1 Zornitza Stark gene: ELP1 was added
gene: ELP1 was added to Medulloblastoma. Sources: Expert Review
Mode of inheritance for gene: ELP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ELP1 were set to {Medulloblastoma} 155255
Review for gene: ELP1 was set to GREEN
Added comment: Sources: Expert Review
Medulloblastoma v0.4 Zornitza Stark removed gene:ALK from the panel
Renal Macrocystic Disease v0.60 LRP5 Chirag Patel reviewed gene: LRP5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Renal Macrocystic Disease v0.60 SEC63 Chirag Patel Classified gene: SEC63 as Green List (high evidence)
Renal Macrocystic Disease v0.60 SEC63 Chirag Patel Gene: sec63 has been classified as Green List (High Evidence).
Renal Macrocystic Disease v0.59 SEC63 Chirag Patel edited their review of gene: SEC63: Added comment: CLINGEN assessed as DEFINITIVE (2020)

SEC63 was FIRST reported in relation to autosomal dominant polycystic liver disease (ADPLD) in 2004 (Davila et al., PMID 15133510). ADPLD due to SEC63 mutations (ADPLD-SEC63) is diagnosed in adults with a family history of liver cysts, under age 40 with any number of liver cysts and individuals over the age of 40 with four or more liver cysts. Women are associated with more severe course of disease, and kidney cysts are present in approximately 28-35% of cases, but in these cases the kidney disease is mild with no association with progression to end stage renal disease (PMID 20408995). At least twenty unique variants (e.g. nonsense, frameshift, splice site, missense) have been reported in humans. Evidence supporting this gene-disease relationship includes case-level data, segregation data, population data and experimental data. Summary of Case Level Data: 12 POINTS. Variants in this gene have been reported in at least 19 probands and in at least four publications (PMID 15133510, PMID 16835903, PMID 20095989, PMID 28375157). Variants in this gene segregated with disease in at least 24 additional family members. More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached. The mechanism for disease is heterozygous loss of function (PMID 15133510, PMID 20095989), with experimental evidence suggesting endoplasmic reticulum stress with induction of the unfolded protein response (UPR) and association with aberrant polycystin 1 (PC1) post-translational modifications leading to cystogenesis (PMID 22864019, PMID 25844898). This gene-disease association is supported by expression studies in cell models, zebrafish models, and mouse models (PMID 21685914, PMID 22864019, PMID 25844898). In summary, SEC63 is definitively associated with AUTOSOMAL DOMINANT POLYCYSTIC LIVER DISEASE. This has been repeatedly demonstrated in both the research and clinical diagnostic settings, and has been upheld over time.; Changed rating: GREEN
Renal Macrocystic Disease v0.59 PRKCSH Chirag Patel Classified gene: PRKCSH as Green List (high evidence)
Renal Macrocystic Disease v0.59 PRKCSH Chirag Patel Gene: prkcsh has been classified as Green List (High Evidence).
Renal Macrocystic Disease v0.58 PRKCSH Chirag Patel reviewed gene: PRKCSH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Renal Macrocystic Disease v0.58 ALG8 Chirag Patel Classified gene: ALG8 as Green List (high evidence)
Renal Macrocystic Disease v0.58 ALG8 Chirag Patel Gene: alg8 has been classified as Green List (High Evidence).
Renal Macrocystic Disease v0.57 ALG8 Chirag Patel Deleted their comment
Renal Macrocystic Disease v0.57 ALG8 Chirag Patel edited their review of gene: ALG8: Added comment: Based on similar ALG genes, the CLINGEN review is discrepant to their review on other similar ALG genes with similar genetic and experimental evidence. Given patients present with PLD with kidney cysts, decision made that evidence is sufficient for PanelApp for classification as GREEN.

CLINGEN assessed as LIMITED (2020)
Monoallelic ALG8 pathogenic variants were first reported in relation to autosomal dominant polycystic liver disease (ADPLD) in 2017 (Besse et al., PMID: 28375157). Of note, biallelic ALG8 pathogenic variants have been associated with congenital disorder of glycosylation, type Ih (CDG-1h; OMIM #608104). Given that ALG8-associated ADPLD and ALG8-associated CDG-1h have different inheritance modes and phenotypic manifestations, we have split the two disease entities. As noted above, here we only curate the association between ALG8 and ADPLD. At least 3 variants (2 nonsense, 1 splice) have been reported in humans. Evidence supporting this gene-disease relationship includes case-level data, population-level data, and experimental data. Variants in this gene have been reported in at least 6 probands in 2 publications (PMID: 28375157; PMID: 32457805). This gene-disease association is supported by in vitro functional assays showing reduced maturation of polycystin 1 in ALG8 null cells. In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship.; Changed rating: GREEN
Renal Macrocystic Disease v0.57 Chirag Patel Panel types changed to Victorian Clinical Genetics Services; KidGen; Rare Disease; Royal Melbourne Hospital; Genetic Health Queensland
Renal Macrocystic Disease v0.56 ALG9 Chirag Patel Classified gene: ALG9 as Green List (high evidence)
Renal Macrocystic Disease v0.56 ALG9 Chirag Patel Gene: alg9 has been classified as Green List (High Evidence).
Renal Macrocystic Disease v0.55 ALG9 Chirag Patel reviewed gene: ALG9: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31395617, 32398770; Phenotypes: Polycystic kidney disease; Mode of inheritance: None
Renal Macrocystic Disease v0.55 SEC16B Chirag Patel gene: SEC16B was added
gene: SEC16B was added to Renal Macrocystic Disease. Sources: Expert Review
Mode of inheritance for gene: SEC16B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEC16B were set to PMID: 28375157, 28862642, 30652979
Phenotypes for gene: SEC16B were set to Polycystic liver disease with or without renal cysts, no OMIM #
Review for gene: SEC16B was set to RED
Added comment: CLINGEN assessed as LIMITED (2020)
No further evidence since for kidney cysts

SEC61B was first reported in relation to autosomal dominant polycystic liver disease in 2017 (Besse et al., PMID:28375157). At least 2 variants (frameshift, start-loss) have been reported in humans. Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in at least 2 probands in 1 publication (PMID:28375157). This gene-disease association is supported by in vitro functional assays. In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship.
Sources: Expert Review
Renal Macrocystic Disease v0.54 ALG8 Chirag Patel gene: ALG8 was added
gene: ALG8 was added to Renal Macrocystic Disease. Sources: Expert Review
Mode of inheritance for gene: ALG8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ALG8 were set to PMID: 28375157, 32457805
Phenotypes for gene: ALG8 were set to Polycystic liver disease 3 with or without kidney cysts, MIM# 617874
Review for gene: ALG8 was set to RED
Added comment: CLINGEN assessed as LIMITED (2020)
No further evidence since then for kidney cysts.

Monoallelic ALG8 pathogenic variants were first reported in relation to autosomal dominant polycystic liver disease (ADPLD) in 2017 (Besse et al., PMID: 28375157). Of note, biallelic ALG8 pathogenic variants have been associated with congenital disorder of glycosylation, type Ih (CDG-1h; OMIM #608104). Given that ALG8-associated ADPLD and ALG8-associated CDG-1h have different inheritance modes and phenotypic manifestations, we have split the two disease entities. As noted above, here we only curate the association between ALG8 and ADPLD. At least 3 variants (2 nonsense, 1 splice) have been reported in humans. Evidence supporting this gene-disease relationship includes case-level data, population-level data, and experimental data. Variants in this gene have been reported in at least 6 probands in 2 publications (PMID: 28375157; PMID: 32457805). This gene-disease association is supported by in vitro functional assays showing reduced maturation of polycystin 1 in ALG8 null cells. In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship.
Sources: Expert Review
Mendeliome v1.482 ADAMTS9 Chirag Patel Classified gene: ADAMTS9 as Amber List (moderate evidence)
Mendeliome v1.482 ADAMTS9 Chirag Patel Gene: adamts9 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.481 ADAMTS9 Chirag Patel reviewed gene: ADAMTS9: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Ciliopathies v1.39 ADAMTS9 Chirag Patel Classified gene: ADAMTS9 as Amber List (moderate evidence)
Ciliopathies v1.39 ADAMTS9 Chirag Patel Gene: adamts9 has been classified as Amber List (Moderate Evidence).
Ciliopathies v1.38 ADAMTS9 Chirag Patel reviewed gene: ADAMTS9: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Renal Ciliopathies and Nephronophthisis v1.15 ADAMTS9 Chirag Patel Classified gene: ADAMTS9 as Amber List (moderate evidence)
Renal Ciliopathies and Nephronophthisis v1.15 ADAMTS9 Chirag Patel Gene: adamts9 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v1.14 ADAMTS9 Chirag Patel reviewed gene: ADAMTS9: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Ciliopathies v1.38 DCDC2 Chirag Patel Classified gene: DCDC2 as Green List (high evidence)
Ciliopathies v1.38 DCDC2 Chirag Patel Gene: dcdc2 has been classified as Green List (High Evidence).
Ciliopathies v1.37 DCDC2 Chirag Patel reviewed gene: DCDC2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27469900, 25557784, 31821705; Phenotypes: Nephronophthisis 19, MIM# 616217, Sclerosing cholangitis, neonatal, MIM# 617394; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v1.14 DCDC2 Chirag Patel Classified gene: DCDC2 as Green List (high evidence)
Renal Ciliopathies and Nephronophthisis v1.14 DCDC2 Chirag Patel Gene: dcdc2 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v1.13 DCDC2 Chirag Patel reviewed gene: DCDC2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27469900, 25557784, 31821705; Phenotypes: Nephronophthisis 19, MIM# 616217, Sclerosing cholangitis, neonatal, MIM# 617394; 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
Hypertension and Aldosterone disorders v1.11 HSD3B2 Chirag Patel Classified gene: HSD3B2 as Green List (high evidence)
Hypertension and Aldosterone disorders v1.11 HSD3B2 Chirag Patel Gene: hsd3b2 has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v1.10 HSD3B2 Chirag Patel gene: HSD3B2 was added
gene: HSD3B2 was added to Renal Hypertension and Disorders of Aldosterone Metabolism. Sources: Expert list
Mode of inheritance for gene: HSD3B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSD3B2 were set to PMID: 1363812, 18252794
Phenotypes for gene: HSD3B2 were set to Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM# 201810
Review for gene: HSD3B2 was set to GREEN
Added comment: Established gene-disease association.
Sources: Expert list
Hypertension and Aldosterone disorders v1.9 CYP21A2 Chirag Patel Classified gene: CYP21A2 as Green List (high evidence)
Hypertension and Aldosterone disorders v1.9 CYP21A2 Chirag Patel Gene: cyp21a2 has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v1.8 CYP21A2 Chirag Patel gene: CYP21A2 was added
gene: CYP21A2 was added to Renal Hypertension and Disorders of Aldosterone Metabolism. Sources: Expert list
Mode of inheritance for gene: CYP21A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP21A2 were set to Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910; Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910
Review for gene: CYP21A2 was set to GREEN
Added comment: Well established gene-disease association. Beware pseudogene and structural variants make NGS data difficult to interpret.
Sources: Expert list
Hypertension and Aldosterone disorders v1.7 CYP17A1 Chirag Patel Classified gene: CYP17A1 as Green List (high evidence)
Hypertension and Aldosterone disorders v1.7 CYP17A1 Chirag Patel Gene: cyp17a1 has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v1.6 CYP17A1 Chirag Patel gene: CYP17A1 was added
gene: CYP17A1 was added to Renal Hypertension and Disorders of Aldosterone Metabolism. Sources: Expert list
Mode of inheritance for gene: CYP17A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP17A1 were set to PMID: 2843762, 14671162, 2026124
Phenotypes for gene: CYP17A1 were set to 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110
Review for gene: CYP17A1 was set to GREEN
Added comment: More than 100 families reported.
Sources: Expert list
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
Additional findings_Paediatric v0.276 KAT6B Zornitza Stark Marked gene: KAT6B as ready
Additional findings_Paediatric v0.276 KAT6B Zornitza Stark Gene: kat6b has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.276 KAT6B Zornitza Stark Phenotypes for gene: KAT6B were changed from Genitopatellar syndrome to SBBYSS syndrome MIM #603736; Genitopatellar syndrome MIM #606170
Additional findings_Paediatric v0.275 KAT6B Zornitza Stark Mode of inheritance for gene: KAT6B was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.274 KAT6B Zornitza Stark reviewed gene: KAT6B: Rating: GREEN; 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
Genetic Epilepsy v0.1803 GPHN Zornitza Stark Publications for gene: GPHN were set to 22040219; 11095995; 26613940; 24561070; 23393157
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
Deafness_IsolatedAndComplex v1.151 KCNJ16 Zornitza Stark Phenotypes for gene: KCNJ16 were changed from Renal tubulopathy; deafness to Inherited renal tubular disease, MONDO:0015962, KCNJ16-related; Renal tubulopathy; deafness
Deafness_IsolatedAndComplex v1.150 KCNJ16 Zornitza Stark edited their review of gene: KCNJ16: Changed phenotypes: Inherited renal tubular disease, MONDO:0015962, KCNJ16-related, Renal tubulopathy, deafness
Mendeliome v1.481 KCNJ16 Zornitza Stark Phenotypes for gene: KCNJ16 were changed from Renal tubulopathy; deafness to Inherited renal tubular disease, MONDO:0015962, KCNJ16-related; Renal tubulopathy; deafness
Mendeliome v1.480 KCNJ16 Zornitza Stark edited their review of gene: KCNJ16: Changed phenotypes: Inherited renal tubular disease, MONDO:0015962, KCNJ16-related, Renal tubulopathy, deafness
Genetic Epilepsy v0.1802 GPHN Achchuthan Shanmugasundram reviewed gene: GPHN: Rating: GREEN; Mode of pathogenicity: None; Publications: 34617111; Phenotypes: developmental and epileptic encephalopathy, MONDO:0100062; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Clefting disorders v0.187 MYCN Achchuthan Shanmugasundram changed review comment from: Comment on classification of this gene: This gene has been added with a RED rating to this panel, as identified from one case and supported by functional studies with mouse model.

Out of the 104 multiplex families with Mendelian non-syndromic cleft lip with or without cleft palate (NSCL/P), a novel pathogenic variant (c.703G>C/ p.A235P) has been identified in MYCN gene from one family. This variant was found in the proband and his affected mother and absent in the unaffected sister, showing co0-segregation with phenotype in this family.

In addition, experimental evidence from conditional knockout mouse model showed that these mice displayed cleft palate, microglossia and micrognathia, resembling the Pierre Robin sequence (PRS) in humans.

This gene has not yet been associated with clefting either in OMIM or in Gene2Phenotype.
Sources: Literature; to: Comment on classification of this gene: This gene has been added with a RED rating to this panel, as identified from one case and supported by functional studies from mouse model.

Out of the 104 multiplex families with Mendelian non-syndromic cleft lip with or without cleft palate (NSCL/P), a novel pathogenic variant (c.703G>C/ p.A235P) has been identified in MYCN gene from one family. This variant was found in the proband and his affected mother and absent in the unaffected sister, showing co0-segregation with phenotype in this family.

In addition, experimental evidence from conditional knockout mouse model showed that these mice displayed cleft palate, microglossia and micrognathia, resembling the Pierre Robin sequence (PRS) in humans.

This gene has not yet been associated with clefting either in OMIM or in Gene2Phenotype.
Sources: Literature
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)
Cerebral amyloid angiopathy v1.1 Bryony Thompson Panel status changed from internal to public
Cerebral amyloid angiopathy v1.0 Bryony Thompson promoted panel to version 1.0
Cerebral amyloid angiopathy v0.16 TTR Bryony Thompson Marked gene: TTR as ready
Cerebral amyloid angiopathy v0.16 TTR Bryony Thompson Gene: ttr has been classified as Green List (High Evidence).
Cerebral amyloid angiopathy v0.16 TTR Bryony Thompson Classified gene: TTR as Green List (high evidence)
Cerebral amyloid angiopathy v0.16 TTR Bryony Thompson Gene: ttr has been classified as Green List (High Evidence).
Cerebral amyloid angiopathy v0.15 TTR Bryony Thompson gene: TTR was added
gene: TTR was added to Cerebral amyloid angiopathy. Sources: Literature
Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TTR were set to 35040071; 8579098; 31257920; 27466465; 28991667; 11422811
Phenotypes for gene: TTR were set to cerebral amyloid angiopathy MONDO:0005620
Mode of pathogenicity for gene: TTR was set to Other
Review for gene: TTR was set to GREEN
gene: TTR was marked as current diagnostic
Added comment: Cerebral amyloid angiopathy has been reported in multiple cases with pathogenic TTR variants
Sources: Literature
Cerebral amyloid angiopathy v0.14 PSEN2 Bryony Thompson Marked gene: PSEN2 as ready
Cerebral amyloid angiopathy v0.14 PSEN2 Bryony Thompson Gene: psen2 has been classified as Amber List (Moderate Evidence).
Cerebral amyloid angiopathy v0.14 PSEN2 Bryony Thompson Classified gene: PSEN2 as Amber List (moderate evidence)
Cerebral amyloid angiopathy v0.14 PSEN2 Bryony Thompson Gene: psen2 has been classified as Amber List (Moderate Evidence).
Cerebral amyloid angiopathy v0.13 PSEN2 Bryony Thompson gene: PSEN2 was added
gene: PSEN2 was added to Cerebral amyloid angiopathy. Sources: Literature
Mode of inheritance for gene: PSEN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PSEN2 were set to 9450781; 26888304
Phenotypes for gene: PSEN2 were set to cerebral amyloid angiopathy MONDO:0005620
Mode of pathogenicity for gene: PSEN2 was set to Other
Review for gene: PSEN2 was set to AMBER
Added comment: Single PSEN2 variant (N141I) segregating with cerebral amyloid angiopathy in a single family (or possibly two families, not clear if the same family is referenced in both publications).
Sources: Literature
Cerebral amyloid angiopathy v0.12 PSEN1 Bryony Thompson Marked gene: PSEN1 as ready
Cerebral amyloid angiopathy v0.12 PSEN1 Bryony Thompson Gene: psen1 has been classified as Green List (High Evidence).
Cerebral amyloid angiopathy v0.12 PSEN1 Bryony Thompson Classified gene: PSEN1 as Green List (high evidence)
Cerebral amyloid angiopathy v0.12 PSEN1 Bryony Thompson Gene: psen1 has been classified as Green List (High Evidence).
Cerebral amyloid angiopathy v0.11 PSEN1 Bryony Thompson gene: PSEN1 was added
gene: PSEN1 was added to Cerebral amyloid angiopathy. Sources: Literature
Mode of inheritance for gene: PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PSEN1 were set to 11701593; 11079548; 34319632
Phenotypes for gene: PSEN1 were set to cerebral amyloid angiopathy MONDO:0005620
Mode of pathogenicity for gene: PSEN1 was set to Other
Review for gene: PSEN1 was set to GREEN
gene: PSEN1 was marked as current diagnostic
Added comment: Greater than 10 families/probands with pathogenic PSEN1 variants leading to amyloid accumulation and cerebral amyloid angiopathy (CAA).
Sources: Literature
Cerebral amyloid angiopathy v0.10 PRNP Bryony Thompson Mode of pathogenicity for gene: PRNP was changed from None to Other
Cerebral amyloid angiopathy v0.9 PRNP Bryony Thompson Classified gene: PRNP as Green List (high evidence)
Cerebral amyloid angiopathy v0.9 PRNP Bryony Thompson Gene: prnp has been classified as Green List (High Evidence).
Cerebral amyloid angiopathy v0.8 PRNP Bryony Thompson gene: PRNP was added
gene: PRNP was added to Cerebral amyloid angiopathy. Sources: Literature
Mode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRNP were set to 8570627; 19225789; 34128081; 19911184; 24224623
Phenotypes for gene: PRNP were set to PrP systemic amyloidosis MONDO:0018339
Review for gene: PRNP was set to GREEN
gene: PRNP was marked as current diagnostic
Added comment: At least five probands/families reported with stopgain variants that lead to truncation of the C-terminus of the protein, which are associated with PrP amyloid in cerebral vessels
Sources: Literature
Cerebral amyloid angiopathy v0.7 ITM2B Bryony Thompson Marked gene: ITM2B as ready
Cerebral amyloid angiopathy v0.7 ITM2B Bryony Thompson Gene: itm2b has been classified as Green List (High Evidence).
Cerebral amyloid angiopathy v0.7 ITM2B Bryony Thompson Classified gene: ITM2B as Green List (high evidence)
Cerebral amyloid angiopathy v0.7 ITM2B Bryony Thompson Gene: itm2b has been classified as Green List (High Evidence).
Cerebral amyloid angiopathy v0.6 ITM2B Bryony Thompson gene: ITM2B was added
gene: ITM2B was added to Cerebral amyloid angiopathy. Sources: Expert list
Mode of inheritance for gene: ITM2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ITM2B were set to 10391242; 10781099; 20385796; 33814452
Phenotypes for gene: ITM2B were set to Cerebral amyloid angiopathy MONDO:0005620
Mode of pathogenicity for gene: ITM2B was set to Other
Review for gene: ITM2B was set to GREEN
gene: ITM2B was marked as current diagnostic
Added comment: At least 4 unrelated families with dementia as a prominent feature of the phenotype and stop loss or protein elongating variants, and a supporting mouse model. Variants that result in the generation of peptide, which is deposited as amyloid fibrils causing neuronal disfunction and dementia.
PMID: 10391242 - familial British dementia (FBD) stop loss variant (c.799T>A p.Ter267Arg) in British kindred with progressive dementia, spasticity, and cerebellar ataxia, with onset at around the fifth decade of life.
PMID: 10781099 - familial Danish dementia protein elongating variant (c.787_796dup p.Ser266fs) identified in a large Danish kindred with a dominant disorder characterised by cataracts, deafness, progressive ataxia, and dementia.
PMID: 33814452 - a Chinese patient with dementia, ataxia, deafness, and paraplegia and a heterozygous stop loss variant (p.*267Leuext*11)
ClinVar: SCV002059726.1 - likely pathogenic stop loss variant (c.800G>T p.Ter267Leu) similar to the FBD variant reported in an individual affected with ABri amyloidosis by Centogene AG
PMID: 20385796 - mouse model of Danish variant demonstrates amyloid deposition in brain (to a lesser extent in the cerebellum), and increased anxiety.
Sources: Expert list
Mendeliome v1.480 MYCN Zornitza Stark reviewed gene: MYCN: Rating: RED; Mode of pathogenicity: None; Publications: 34590686; Phenotypes: cleft lip with or without cleft palate, MONDO:0016034, MYCN-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v0.187 MYCN Zornitza Stark Marked gene: MYCN as ready
Clefting disorders v0.187 MYCN Zornitza Stark Gene: mycn has been classified as Red List (Low Evidence).
Clefting disorders v0.187 MYCN Zornitza Stark Classified gene: MYCN as Red List (low evidence)
Clefting disorders v0.187 MYCN Zornitza Stark Gene: mycn has been classified as Red List (Low Evidence).
Mendeliome v1.480 AFDN Zornitza Stark Marked gene: AFDN as ready
Mendeliome v1.480 AFDN Zornitza Stark Gene: afdn has been classified as Red List (Low Evidence).
Mendeliome v1.480 AFDN Zornitza Stark gene: AFDN was added
gene: AFDN was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: AFDN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AFDN were set to 36384317
Phenotypes for gene: AFDN were set to Cleft lip/palate, MONDO:0016044, AFDN-related
Review for gene: AFDN was set to RED
Added comment: Over-representation of rare AFDN missense variants reported in a cohort of CL/P individuals of African and Brazilian origin. However, almost all of the variants reported have hets in gnomad. The one that is novel has alternative missense at the same aa position.
Sources: Literature
Clefting disorders v0.186 AFDN Zornitza Stark Marked gene: AFDN as ready
Clefting disorders v0.186 AFDN Zornitza Stark Gene: afdn has been classified as Red List (Low Evidence).
Clefting disorders v0.186 AFDN Zornitza Stark gene: AFDN was added
gene: AFDN was added to Clefting disorders. Sources: Literature
Mode of inheritance for gene: AFDN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AFDN were set to 36384317
Phenotypes for gene: AFDN were set to Cleft lip/palate, MONDO:0016044, AFDN-related
Review for gene: AFDN was set to RED
Added comment: Over-representation of rare AFDN missense variants reported in a cohort of CL/P individuals of African and Brazilian origin. However, almost all of the variants reported have hets in gnomad. The one that is novel has alternative missense at the same aa position.
Sources: Literature
Clefting disorders v0.185 MYCN Achchuthan Shanmugasundram gene: MYCN was added
gene: MYCN was added to Clefting disorders. Sources: Literature
Mode of inheritance for gene: MYCN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MYCN were set to 34590686
Phenotypes for gene: MYCN were set to cleft lip with or without cleft palate, MONDO:0016034
Review for gene: MYCN was set to RED
Added comment: Comment on classification of this gene: This gene has been added with a RED rating to this panel, as identified from one case and supported by functional studies with mouse model.

Out of the 104 multiplex families with Mendelian non-syndromic cleft lip with or without cleft palate (NSCL/P), a novel pathogenic variant (c.703G>C/ p.A235P) has been identified in MYCN gene from one family. This variant was found in the proband and his affected mother and absent in the unaffected sister, showing co0-segregation with phenotype in this family.

In addition, experimental evidence from conditional knockout mouse model showed that these mice displayed cleft palate, microglossia and micrognathia, resembling the Pierre Robin sequence (PRS) in humans.

This gene has not yet been associated with clefting either in OMIM or in Gene2Phenotype.
Sources: Literature
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
Mendeliome v1.479 FOXA2 Zornitza Stark Publications for gene: FOXA2 were set to 29329447; 28973288; 11445544
Mendeliome v1.478 FOXA2 Zornitza Stark edited their review of gene: FOXA2: Added comment: PMID 33999151: two further individuals reported.; Changed publications: 29329447, 28973288, 11445544, 33999151
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
Mendeliome v1.478 FOXI1 Zornitza Stark Deleted their review
Mendeliome v1.478 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
Disorders of immune dysregulation v0.163 FOXP3 Zornitza Stark Tag treatable tag was added to gene: FOXP3.
Mendeliome v1.478 FOXP3 Zornitza Stark Tag treatable tag was added to gene: FOXP3.
Congenital Diarrhoea v1.11 FOXP3 Zornitza Stark Tag treatable tag was added to gene: FOXP3.
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