Early onset or syndromic epilepsy
Gene: SLC13A5
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 EIEE25. Thevenon et al, 2004 - 8 patients, 3 unrelated families - 1 family consanguineous and of Algerian origin. In 7 patients from 3 unrelated families identified a hom or compound het missense variant. No functional studies done. Hardies et al, 2015 - 8 patients from 4 unrelated families of European descent - 7 different biallelic variants identified, 5 missense, 2 truncating and 2 reported previously. In vitro functional expression studies in HEK293T cells showed that all mutant proteins lost citrate transport activity even though some missense mutations were correctly expressed at the plasma membrane. More variants idenitifed on HGMD Pro - including Schossig et al, 2017 - 10 indivdiuals from 5 families all with bialleleic SLC13A5 variants.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
Epileptic encephalopathy, early infantile, 615905
Publications
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: All reviewers agree, and mode of inheritance and loss of function mechanism confirmed on G2P/OMIM.Created: 29 Jan 2016, 2:51 p.m.
Source Wessex and West Midlands GLH was added to SLC13A5.
Source NHS GMS was added to SLC13A5.
Ellen McDonagh: Comment when marking as ready:
NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to SLC13A5. Panel: Genetic Epilepsy Syndromes
Victorian Clinical Genetics Services was added to SLC13A5. Panel: Genetic Epilepsy Syndromes
SLC13A5 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review,Expert Review Green
SLC13A5 was created by Sarah Leigh