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Genetic epilepsy syndromes

Gene: ATP6V0A2

Green List (high evidence)

ATP6V0A2 (ATPase H+ transporting V0 subunit a2)
EnsemblGeneIds (GRCh38): ENSG00000185344
EnsemblGeneIds (GRCh37): ENSG00000185344
OMIM: 611716, Gene2Phenotype
ATP6V0A2 is in 15 panels

3 reviews

Rebecca Foulger (Genomics England curator)

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

Tracy Lester (Genetics laboratory, Oxford UK)

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

Sarah Leigh (Genomics England Curator)

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

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to ATP6V0A2.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to ATP6V0A2.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

ATP6V0A2 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Literature

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

ATP6V0A2 was created by Sarah Leigh