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| Aminoacidopathy v1.98 | TYR | Zornitza Stark Marked gene: TYR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.98 | TYR | Zornitza Stark Gene: tyr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.98 | TYR | Zornitza Stark Classified gene: TYR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.98 | TYR | Zornitza Stark Gene: tyr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.95 | TYR |
Sangavi Sivagnanasundram gene: TYR was added gene: TYR was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: TYR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TYR were set to 2511845; 32411182; 31199599; 29052256 Phenotypes for gene: TYR were set to oculocutaneous albinism type 1 MONDO:0018135 Review for gene: TYR was set to GREEN Added comment: TYR encodes tyrosinase which vital in melanin synthesis. Reported individuals have an error in tyrosinase metabolism thus affecting melanin synthesis. >5 probands have been reported with errors in tyrosinase metabolism. Classified Definitive by Aminoacidopathy GCEP on 28/08/2020 - https://search.clinicalgenome.org/CCID:006490 Sources: ClinGen |
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| Aminoacidopathy v1.95 | TH |
Sangavi Sivagnanasundram gene: TH was added gene: TH was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TH were set to 30383639; 29225908; 22264700; 12891655 Phenotypes for gene: TH were set to tyrosine hydroxylase deficiency MONDO:0100064 Review for gene: TH was set to GREEN Added comment: >10 unrelated probands reported with an inborn error in tyrosine metabolism. Classified Definitive by Aminoacidopathy GCEP on 22/03/2019 - https://search.clinicalgenome.org/CCID:006363 Sources: ClinGen |
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| Aminoacidopathy v1.95 | TAT |
Sangavi Sivagnanasundram gene: TAT was added gene: TAT was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAT were set to 9544843; 16917729 Phenotypes for gene: TAT were set to tyrosinemia type II MONDO:0010160 Review for gene: TAT was set to GREEN Added comment: Well reported gene-disease association with affected individuals having reports of a deficiency in hepatic tyrosine aminotransferase (TAT). Classified Definitive by Aminoacidopathy GCEP on 29/06/2020 - https://search.clinicalgenome.org/CCID:006320 Sources: ClinGen |
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| Aminoacidopathy v1.59 | HPD |
Sangavi Sivagnanasundram gene: HPD was added gene: HPD was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: HPD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: HPD were set to 10942115, 11073718, 28649543, 11073718, 31342835 Phenotypes for gene: HPD were set to tyrosinemia type III MONDO:0010162; hawkinsinuria MONDO:0007700 Review for gene: HPD was set to GREEN Added comment: Tyrosinemia type III - AR and Hawkinsinuria - AD ClinGen classified limited evidence for the AD gene-disease association on 17/11/2023 and definitive for AR gene-disease association on 29/06/2020. Established gene-disease association. Reported individuals reported with inborn errors of amino acid metabolism. Sources: ClinGen |
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| Aminoacidopathy v1.59 | HIBADH |
Sangavi Sivagnanasundram gene: HIBADH was added gene: HIBADH was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: HIBADH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HIBADH were set to 34176136; 35174513 Phenotypes for gene: HIBADH were set to 3-hydroxyisobutyric aciduria MONDO:0009371 Review for gene: HIBADH was set to RED Added comment: Classified Limited by ClinGen Aminoacidopathy GCEP on 24/03/2023 - https://search.clinicalgenome.org/CCID:005058 Reported in 3 probands however there is lack of clinical evidence to show that hydroxyisobutyrate dehydrogenase deficiency leads to their clinical phenotype. Sources: ClinGen |
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| Aminoacidopathy v1.18 | FAH |
Sangavi Sivagnanasundram gene: FAH was added gene: FAH was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAH were set to 20301688; 8318997; 7550234; 7942842; 2378356; 9095403; 26829318 Phenotypes for gene: FAH were set to tyrosinemia type I MONDO:0010161 Review for gene: FAH was set to GREEN Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 29/06/2020 - https://search.clinicalgenome.org/CCID:004804 Typically present in young infants with abnormal liver function as FAH is mainly expressed in the liver. Well established gene-disease association with multiple reported individuals having abnormal biochemical function of FAH. LoF is the mechanism of disease. Gene Reviews reports many founder variants in different population. Sources: ClinGen |
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| Aminoacidopathy v1.9 | AGA |
Sangavi Sivagnanasundram gene: AGA was added gene: AGA was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGA were set to 8252036, 20301412 Phenotypes for gene: AGA were set to Canavan disease MONDO:0010079 Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 08/10/2020 - https://search.clinicalgenome.org/CCID:004188 Canavan disease is most prevalent in the AJ population however has been reported in other individuals as well. The most common variants in AJ population are p.Glu285Ala and p.Tyr231Ter (PMID:8252036). The most common variant reported in the non-Jewish population is p.Ala305Glu (PMID:20301412). All variants have been reported as pathogenic on ClinVar with at least 2/4 stars. Variants have been reported in >10 individuals with elevated N-acetylaspartic acid (NAA) levels and LoF is the mechanism of disease. Sources: ClinGen |
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| Aminoacidopathy v0.0 | HIBCH |
Bryony Thompson gene: HIBCH was added gene: HIBCH was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HIBCH were set to 29152456 Phenotypes for gene: HIBCH were set to 3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO:0009603 |
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| Aminoacidopathy v0.0 | ACAD8 |
Bryony Thompson gene: ACAD8 was added gene: ACAD8 was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: ACAD8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACAD8 were set to 29152456 Phenotypes for gene: ACAD8 were set to isobutyryl-CoA dehydrogenase deficiency MONDO:0012648 |
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| Aminoacidopathy v0.0 | ACADSB |
Bryony Thompson gene: ACADSB was added gene: ACADSB was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: ACADSB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACADSB were set to 29152456 Phenotypes for gene: ACADSB were set to 2-methylbutyryl-CoA dehydrogenase deficiency MONDO:0012392 |
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