Genes in panel
STRs in panel
Prev Next

Genetic epilepsy syndromes

Gene: ALDH5A1

Green List (high evidence)

ALDH5A1 (aldehyde dehydrogenase 5 family member A1)
EnsemblGeneIds (GRCh38): ENSG00000112294
EnsemblGeneIds (GRCh37): ENSG00000112294
OMIM: 610045, Gene2Phenotype
ALDH5A1 is in 7 panels

4 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AR succinic semialdehyde dehydrogenase deficiency - rare neurological disorder - dev delay, hypotonia, mental retardation, ataxia, seizures, hyperkinetic behaviour, agression and sleep disturbances. Akaboshi et al, 2003 - Mutational spectrum in 48 additional unrelated families of diff geographical origin, detected 27 novel mutations - no clinical information provided.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Succinic semialdehyde dehydrogenase deficiency, 271980

Publications

Sarah Leigh (Genomics England Curator)

Comment on list classification: Based on review by Dr Arianna Tucci (Genomics England Clinical Fellow and Curator)
Created: 16 Jul 2018, 4:01 p.m.

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

epilepsy is part of the phenotype, and eniugh evidence to mark as green
Created: 4 Jul 2018, 9:51 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Succinic semialdehyde dehydrogenase deficiency 271980

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Succinic semialdehyde dehydrogenase deficiency 271980
OMIM
610045
Clinvar variants
Variants in ALDH5A1
Penetrance
None
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to ALDH5A1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to ALDH5A1.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Arianna Tucci: epilepsy is part of the phenot

16 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: aldh5a1 has been classified as Green List (High Evidence).

16 Jul 2018, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ALDH5A1 were set to Succinic semialdehyde dehydrogenase deficiency 271980

16 Jul 2018, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: ALDH5A1 was changed from to BIALLELIC, autosomal or pseudoautosomal

16 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: aldh5a1 has been classified as Green List (High Evidence).

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to ALDH5A1. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

ALDH5A1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

ALDH5A1 was created by Sarah Leigh