Miscellaneous Metabolic Disorders
Gene: ALDH5A1EnsemblGeneIds (GRCh38): ENSG00000112294
EnsemblGeneIds (GRCh37): ENSG00000112294
OMIM: 610045, Gene2Phenotype
ALDH5A1 is in 15 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
Inborn error of gamma-aminobutyric acid metabolism. Well-established gene-disease association (see OMIM entry).
Sources: NHS GMSCreated: 25 Jan 2021, 12:28 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Succinic semialdehyde dehydrogenase deficiency MIM#271980; disorder of neurotransmitter metabolism
Publications
Variants in this GENE are reported as part of current diagnostic practice
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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.Created: 23 Aug 2020, 2:51 a.m. | Last Modified: 23 Aug 2020, 2:51 a.m.
Panel Version: 0.3876
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Succinic semialdehyde dehydrogenase deficiency, MIM# 271980
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Succinic semialdehyde dehydrogenase deficiency MIM#271980
- disorder of neurotransmitter metabolism
- OMIM
- 610045
- Clinvar variants
- Variants in ALDH5A1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Paroxysmal Dyskinesia
- Miscellaneous Metabolic Disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Neurotransmitter Defects
- Regression
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Prepair 500+
- Ataxia - paediatric
- Autism
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: aldh5a1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: aldh5a1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ALDH5A1 was added gene: ALDH5A1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: ALDH5A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH5A1 were set to 9683595; 14635103; 32887777 Phenotypes for gene: ALDH5A1 were set to Succinic semialdehyde dehydrogenase deficiency MIM#271980; disorder of neurotransmitter metabolism Review for gene: ALDH5A1 was set to GREEN gene: ALDH5A1 was marked as current diagnostic