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Osteogenesis imperfecta

Gene: ATP6V0A2

Red List (low evidence)

ATP6V0A2 (ATPase H+ transporting V0 subunit a2)
EnsemblGeneIds (GRCh38): ENSG00000185344
EnsemblGeneIds (GRCh37): ENSG00000185344
OMIM: 611716, Gene2Phenotype
ATP6V0A2 is in 16 panels

2 reviews

Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

Red List (low evidence)

Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)

Red List (low evidence)

There is no evidence to support a causal role of this gene in this particular disease
Created: 6 Oct 2015, 11:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

cutis laxa


History Filter Activity

23 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ATP6V0A2 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory