Neurotransmitter disorders
Gene: ALDH5A1
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: 1.8
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 1 Apr 2021, 3:03 p.m. | Last Modified: 1 Apr 2021, 3:03 p.m.
Panel Version: 1.8
Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare autosomal recessive neurologic disorder in which an enzyme defect in the GABA degradation pathway causes a consecutive elevation of gamma-hydroxybutyric acid (GHB) and GABA. The clinical features include developmental delay, hypotonia, mental retardation, ataxia, seizures, hyperkinetic behavior, aggression, and sleep disturbances. Over 50 unrelated families reported.
Sources: Expert listCreated: 23 Aug 2020, 2:54 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 Q2_21_rating was removed from gene: ALDH5A1.
Gene: aldh5a1 has been classified as Green List (High Evidence).
Tag Q2_21_rating tag was added to gene: ALDH5A1.
Gene: aldh5a1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: ALDH5A1 were changed from Succinic semialdehyde dehydrogenase deficiency, MIM# 271980 to Succinic semialdehyde dehydrogenase deficiency OMIM:271980; succinic semialdehyde dehydrogenase deficiency MONDO:0010083
gene: ALDH5A1 was added gene: ALDH5A1 was added to Neurotransmitter disorders. Sources: Expert list Mode of inheritance for gene: ALDH5A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH5A1 were set to 9683595; 14635103; 32402538 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