Genes in panel
Regions in panel
Prev Next

Intellectual disability

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 16 panels

4 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Associated with seizures and ID in addition to cutaneous phenotype.
Created: 18 Dec 2017, 1:24 p.m.

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 and mental retardation). Speech delay reported in Wrinkly skin syndrome 278250
Created: 15 Dec 2017, 9:38 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Caroline Wright (Sanger)

Red List (low evidence)

Lu Raymond (university of cambridge )

Red List (low evidence)

History Filter Activity

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

4 Jan 2018, Gel status: 4

Added New Source, Set mode of inheritance, Set publications

Sarah Leigh (Genomics England Curator)

Expert Review Green was added to ATP6V0A2. Panel: Intellectual disability Model of inheritance for gene ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene ATP6V0A2 was set to [' 18157129', ' 22773132']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ATP6V0A2 was added to Intellectual disabilitypanel. Source: Expert Review Red

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ATP6V0A2 was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen