Early onset or syndromic epilepsy

Gene: ATP6V0A2

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 wrinkly skin syndrome and AR cutis laxa type IIIa (ARCLA2A). ARCL2A - spectrum of clinical entities with variable severity of cutis laxa, abnormal growth, dev delay and assoc skeletal abnormal. ARCL2A ia thought to be more of a multi system disorder with cobblestone-like brain dysgenesis manifesing as developmental delay and an epileptic neurodegen synd rather than a purely dermatological disorder. Morova et al, 2008 - 10 patients with cutis laxa and clinical features included epilepsy. Van Maldergem et al, 2008 - 11 patients from 9 families - 5/11 developed refractory seizures. All but 1 patient had variants in ATP6V0A2.

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
Cutis laxa, type IIA,219200; Wrinkly skin syndrome,278250

Publications

• 18157129
• 22773132

Green List (high evidence)

Associated with phenotype in OMIM, not in G2P. At least 4 homozygous variants reported in unrelated cases of Cutis laxa, autosomal recessive, type IIA 219200 (this phenotype includes delayed mental development, mental retardation and seizures). Speech delay reported in Wrinkly skin syndrome 278250

Created: 14 Dec 2017, 3:40 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cutis laxa, autosomal recessive, type IIA 219200; Wrinkly skin syndrome 278250

Publications

• 18157129
• 22773132