Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Epileptic encephalopathy

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 14 panels

1 review

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

14 Dec 2017, Gel status: 3

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Dec 2017, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

ATP6V0A2 was added to Epileptic encephalopathy panel. Sources: Literature

14 Dec 2017, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

ATP6V0A2 was created by Sarah Leigh