Congenital Disorders of Glycosylation
Gene: PGAP3

PGAP3 (post-GPI attachment to proteins 3)
EnsemblGeneIds (GRCh38): ENSG00000161395
EnsemblGeneIds (GRCh37): ENSG00000161395
OMIM: 611801, Gene2Phenotype
PGAP3 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bi-allelic variants in this gene are associated with severe DD/ID, lack of speech acquisition, seizures, and dysmorphic facial features. Laboratory studies show increased serum alkaline phosphatase. More than 15 unrelated families reported.
Created: 20 Dec 2020, 2:31 a.m. | Last Modified: 20 Dec 2020, 2:31 a.m.

Panel Version: 0.292

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318

Publications

Created: 20 Dec 2020, 2:31 a.m.
Last Modified: 20 Dec 2020, 2:31 a.m.
Panel version: 0.292

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318

OMIM

611801

Clinvar variants

Variants in PGAP3

Penetrance

None

Publications

Panels with this gene