Early onset or syndromic epilepsy
Gene: ALDH7A1PMID: 32969477 - Al-Shekaili et al 2020 - describe the biochemical characterization of a Aldh7a1-KO mouse model fed low lysine/high pyridoxine or high lysine/low pyridoxine diets and the effects on seizuresCreated: 3 Dec 2020, 11:49 a.m. | Last Modified: 3 Dec 2020, 11:49 a.m.
Panel Version: 2.227
Publications
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
Biochem assay for alpha-aminoadipic semialdehyde may be a pathognomonic marker. Posisble dutch founder mutation (p.(Glu399Gln)), PubMed: 17721876. AR pyridoxine-dependent epilepsy. Mlls et al, 2006 - hom or compound het mutations in 8 unrelated families- Been et al, 2005 Bok et al, 2007 & Salomons et al, 2007 - 7 patients from 4 apparently unrelated families - hom variant E399Q. 123 reported mutations on HGMD pro - many missense, nonesense, splicing, dels/ins. Functioal characterisation has been done - Coulter-Mackie et al, 2012 & Korasick et al, 2017.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
Epilepsy, pyridoxine-dependent, 266100
Publications
Added the 'treatable' tag as seizures caused by variants in this gene are treatable by daily pyridoxine supplementation (OMIM).Created: 10 Dec 2018, 5:17 p.m.
Associated with relevant phenotypes in OMIM and as confirmed Gen2Phen gene. At least 9 variants reported.Created: 9 Apr 2018, 1:46 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy, pyridoxine-dependent 266100
Source Wessex and West Midlands GLH was added to ALDH7A1.
Source NHS GMS was added to ALDH7A1.
Sarah Leigh: Associated with relevant pheno
Tag treatable tag was added to gene: ALDH7A1.
Phenotypes for gene: ALDH7A1 were changed from to Epilepsy, pyridoxine-dependent 266100
NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to ALDH7A1. Panel: Genetic Epilepsy Syndromes
Victorian Clinical Genetics Services was added to ALDH7A1. Panel: Genetic Epilepsy Syndromes
Mode of inheritance for ALDH7A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for ALDH7A1 were set to 16491085; 17068770; 17721876
Publications for ALDH7A1 were set to 16491085; 17068770
This gene has been classified as Green List (High Evidence).
ALDH7A1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert
ALDH7A1 was created by Sarah Leigh