Early onset or syndromic epilepsy

Gene: SLC13A5

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 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

• 24995870

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• Thevenon et al (2014) AJHG 95, 113_120

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• Thevenon et al (2014) AJHG 95, 113_120

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• Thevenon et al (2014) AJHG 95, 113_120

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• Thevenon et al (2014) AJHG 95, 113 120

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.