Congenital Disorders of Glycosylation
Gene: PIGV

PIGV (phosphatidylinositol glycan anchor biosynthesis class V)
EnsemblGeneIds (GRCh38): ENSG00000060642
EnsemblGeneIds (GRCh37): ENSG00000060642
OMIM: 610274, Gene2Phenotype
PIGV is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bi-allelic variants in this gene are associated with intellectual disability, seizures, hypotonia, and hyperphosphatasia. Other features include facial dysmorphism, variable degrees of brachytelephalangy and congenital anomalies.

More thank 10 unrelated families reported.
Created: 19 Dec 2020, 10:50 a.m. | Last Modified: 19 Dec 2020, 10:50 a.m.

Panel Version: 0.284

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398

Publications

Created: 19 Dec 2020, 10:50 a.m.
Last Modified: 19 Dec 2020, 10:50 a.m.
Panel version: 0.288

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398

OMIM

610274

Clinvar variants

Variants in PIGV

Penetrance

None

Publications

Panels with this gene