Ataxia - paediatric
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)
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.Created: 12 Sep 2020, 1:48 a.m. | Last Modified: 12 Sep 2020, 1:48 a.m.
Panel Version: 0.226
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
- Royal Melbourne Hospital
- Phenotypes
-
- Succinic semialdehyde dehydrogenase deficiency, MIM# 271980
- 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
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ALDH5A1 were changed from Succinate-semialdehyde dehydrogenase deficiency to Succinic semialdehyde dehydrogenase deficiency, MIM# 271980
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: aldh5a1 has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ALDH5A1 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ALDH5A1 was added gene: ALDH5A1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ALDH5A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDH5A1 were set to Succinate-semialdehyde dehydrogenase deficiency