Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: ALDH5A1

Amber List (moderate evidence)

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

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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 list
Created: 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Succinic semialdehyde dehydrogenase deficiency, MIM# 271980
Tags
Q3_21_rating
OMIM
610045
Clinvar variants
Variants in ALDH5A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Dec 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q3_21_rating tag was added to gene: ALDH5A1.

1 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: aldh5a1 has been classified as Amber List (Moderate Evidence).

1 Apr 2021, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ALDH5A1 were set to 14635103

12 Sep 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 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