Neurotransmitter disorders

Gene: ALDH5A1

No list

ALDH5A1 (aldehyde dehydrogenase 5 family member A1)
EnsemblGeneIds (GRCh38): ENSG00000112294
EnsemblGeneIds (GRCh37): ENSG00000112294
OMIM: 610045, Gene2Phenotype
ALDH5A1 is in 10 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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 list
Created: 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

History Filter Activity

23 Aug 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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