Ataxia and cerebellar anomalies - narrow panel
Gene: ALDH5A1
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 5 Feb 2023, 5:18 p.m. | Last Modified: 5 Feb 2023, 5:18 p.m.
Panel Version: 3.30
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 7 variants reported in numerous cases, together with supportive functional evidence and mouse model.Created: 1 Apr 2021, 3:06 p.m. | Last Modified: 1 Apr 2021, 3:06 p.m.
Panel Version: 2.59
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 1 Apr 2021, 3:02 p.m. | Last Modified: 1 Apr 2021, 3:02 p.m.
Panel Version: 2.59
Over 50 unrelated families reported. Ataxia is part of the phenotype, which also includes developmental delay, hypotonia, intellectual disability, seizures, hyperkinetic behaviour, aggression, and sleep disturbances.
Sources: Expert listCreated: 12 Sep 2020, 1:51 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Succinic semialdehyde dehydrogenase deficiency, MIM# 271980
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q3_21_rating was removed from gene: ALDH5A1.
Source Expert Review Green was added to ALDH5A1. Source NHS GMS was added to ALDH5A1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q3_21_rating tag was added to gene: ALDH5A1.
Gene: aldh5a1 has been classified as Amber List (Moderate Evidence).
Publications for gene: ALDH5A1 were set to 14635103
gene: ALDH5A1 was added gene: ALDH5A1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: ALDH5A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH5A1 were set to 14635103 Phenotypes for gene: ALDH5A1 were set to Succinic semialdehyde dehydrogenase deficiency, MIM# 271980 Review for gene: ALDH5A1 was set to GREEN gene: ALDH5A1 was marked as current diagnostic