Early onset or syndromic epilepsy

Gene: ALDH5A1

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

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

• 14635103

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.

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