Early onset or syndromic epilepsy
Gene: ALDH5A1
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
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
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.
epilepsy is part of the phenotype, and eniugh evidence to mark as greenCreated: 4 Jul 2018, 9:51 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Succinic semialdehyde dehydrogenase deficiency 271980
Publications for gene: ALDH5A1 were set to
Phenotypes for gene: ALDH5A1 were changed from Succinic semialdehyde dehydrogenase deficiency 271980 to Succinic semialdehyde dehydrogenase deficiency OMIM:271980; succinic semialdehyde dehydrogenase deficiency MONDO:0010083
Source Wessex and West Midlands GLH was added to ALDH5A1.
Source NHS GMS was added to ALDH5A1.
Arianna Tucci: epilepsy is part of the phenot
Gene: aldh5a1 has been classified as Green List (High Evidence).
Phenotypes for gene: ALDH5A1 were set to Succinic semialdehyde dehydrogenase deficiency 271980
Mode of inheritance for gene: ALDH5A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: aldh5a1 has been classified as Green List (High Evidence).
Expert Review Amber was added to ALDH5A1. Panel: Genetic Epilepsy Syndromes
ALDH5A1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
ALDH5A1 was created by Sarah Leigh