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| Aminoacidopathy v1.95 | SLC6A8 |
Sangavi Sivagnanasundram gene: SLC6A8 was added gene: SLC6A8 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SLC6A8 were set to 27604308; 16738945 Phenotypes for gene: SLC6A8 were set to creatine transporter deficiency MONDO:0010305 Review for gene: SLC6A8 was set to GREEN Added comment: Well-established gene disease association with reported individuals having error in creatine transport. Classified Definitive by Aminoacidopathy GCEP on 10/02/2020 - https://search.clinicalgenome.org/CCID:006200 Sources: ClinGen |
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| Aminoacidopathy v1.66 | SLC1A3 |
Sangavi Sivagnanasundram gene: SLC1A3 was added gene: SLC1A3 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SLC1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC1A3 were set to 27829685, 16116111, 29062094, 19139306, 29208948, 29066757, 32754645, 25497598 Phenotypes for gene: SLC1A3 were set to episodic ataxia type 6 MONDO:0012982 Mode of pathogenicity for gene: SLC1A3 was set to Other Review for gene: SLC1A3 was set to GREEN Added comment: Variants reported in 8 unrelated probands with reported errors in glutamate metabolism. Mechanism of disease varies depending on the mutation. The most severe variants (p.M128R, p.P290R, and p.T318A) appear to have gain of function mechanism. Classified as Definitive by ClinGen Aminoacidopathy GCEP on 09/10/2020 https://search.clinicalgenome.org/CCID:006154 Sources: ClinGen |
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| Aminoacidopathy v1.66 | OTC |
Sangavi Sivagnanasundram gene: OTC was added gene: OTC was added to Aminoacidopathy. Sources: Other Mode of inheritance for gene: OTC 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: OTC were set to 26059767 Phenotypes for gene: OTC were set to ornithine carbamoyltransferase deficiency MONDO:0010703 Review for gene: OTC was set to GREEN Added comment: Well established gene-disease association where affected individuals have a deficiency in carbamoyltransferase which affects the urea cycle. Classified as Definitive by ClinGen Aminoacidopathy GCEP on 29/10/2019 https://search.clinicalgenome.org/CCID:005712 Sources: Other |
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| Aminoacidopathy v1.9 | ALDH18A1 |
Sangavi Sivagnanasundram gene: ALDH18A1 was added gene: ALDH18A1 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: ALDH18A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ALDH18A1 were set to 32017139, 26026163, 26320891 Phenotypes for gene: ALDH18A1 were set to P5CS deficiency MONDO:0100126 Added comment: Classified Definitive on 18/05/2021 by ClinGen Aminoacidopathy GCEP - https://search.clinicalgenome.org/CCID:004093 P5CS is an important enzyme in several amino acid pathways. >10 Individuals with abnormal biochemistry and function studies have been conducted. Mechanism of disease is variable LOF depending on the mutation present which results in the spectrum of severity in the phenotype. Dominant negative mutations have a less severe phenotype (AD cutis laxa/hsp) to the severely affected proteins having no activity (AR cutis laxa/hsp) (PMID: 32017139). Sources: ClinGen |
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| Aminoacidopathy v0.40 | MUT | Bryony Thompson Marked gene: MUT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.40 | MUT | Bryony Thompson Gene: mut has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.40 | MUT | Bryony Thompson Publications for gene: MUT were set to 29152456 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.39 | MUT | Bryony Thompson Classified gene: MUT as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.39 | MUT | Bryony Thompson Gene: mut has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.0 | MUT |
Bryony Thompson gene: MUT was added gene: MUT was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MUT were set to 29152456 Phenotypes for gene: MUT were set to methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MONDO:0009612 |
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| Aminoacidopathy v0.0 | TAZ |
Bryony Thompson gene: TAZ was added gene: TAZ was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: TAZ were set to 29152456 Phenotypes for gene: TAZ were set to 3-methylglutaconic aciduria MONDO:0017359 |
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