Congenital disorders of glycosylation
Gene: PGAP2

PGAP2 (post-GPI attachment to proteins 2)
EnsemblGeneIds (GRCh38): ENSG00000148985
EnsemblGeneIds (GRCh37): ENSG00000148985
OMIM: 615187, Gene2Phenotype
PGAP2 is in 8 panels

2 reviews

Sarah Leigh (Genomics England Curator)

GlyGen link updated April 2021: https://www.glygen.org/protein/Q9UHJ9-1#Disease
Created: 8 Apr 2021, 1:27 p.m. | Last Modified: 8 Apr 2021, 1:27 p.m.

Panel Version: 2.66

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 5 variants reported 4 cases.
Created: 19 Dec 2016, 10:41 a.m.

Created: 19 Dec 2016, 10:41 a.m.

Panel version: 2.66

Daniel Ungar (University of York, Department of Biology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 13 Dec 2016, 4:31 p.m.

Panel version: 0.12

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
UKGTN
Radboud University Medical Center, Nijmegen
Literature
Emory Genetics Laboratory

Phenotypes

Hyperphosphatasia with mental retardation syndrome 3 614207
PGAP2-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)

OMIM

615187

Clinvar variants

Variants in PGAP2

Penetrance

Complete

Publications

Panels with this gene