Congenital disorders of glycosylation
Gene: ATP6AP1

ATP6AP1 (ATPase H+ transporting accessory protein 1)
EnsemblGeneIds (GRCh38): ENSG00000071553
EnsemblGeneIds (GRCh37): ENSG00000071553
OMIM: 300197, Gene2Phenotype
ATP6AP1 is in 7 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. Four variants reported in six unrelated families
Created: 19 Dec 2016, 3:23 p.m.

Created: 19 Dec 2016, 3:23 p.m.

Panel version: 0.151

Daniel Ungar (University of York, Department of Biology)

Green List (high evidence)

multiple glycan processing pathways affected
Created: 14 Dec 2016, 2:43 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Publications

27231034

Created: 14 Dec 2016, 2:43 p.m.

Panel version: 0.19

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Green
UKGTN
Radboud University Medical Center, Nijmegen

Phenotypes

Immunodeficiency 47 300972

OMIM

300197

Clinvar variants

Variants in ATP6AP1

Penetrance

Complete

Publications

27231034

Panels with this gene