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| Aminoacidopathy v1.28 | ALDH18A1 | Zornitza Stark Marked gene: ALDH18A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.28 | ALDH18A1 | Zornitza Stark Gene: aldh18a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.28 | ALDH18A1 | Zornitza Stark Publications for gene: ALDH18A1 were set to 32017139, 26026163, 26320891 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.27 | ALDH18A1 | Zornitza Stark Classified gene: ALDH18A1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.27 | ALDH18A1 | Zornitza Stark Gene: aldh18a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.9 | ALDH18A1 | Sangavi Sivagnanasundram edited their review of gene: ALDH18A1: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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