Hand and foot malformations
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.
Created: 19 Dec 2020, 10:53 a.m. | Last Modified: 19 Dec 2020, 10:53 a.m.

Panel Version: 0.5709

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 19 Dec 2020, 10:53 a.m.
Last Modified: 19 Dec 2020, 10:53 a.m.
Panel version: Imported from Mendeliome panel version 0.5709

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert list
Expert Review Green
Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Hyperphosphatasia with mental retardation syndrome 1 239300

OMIM

610274

Clinvar variants

Variants in PIGV

Penetrance

None

Panels with this gene

History Filter Activity

22 Sep 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: PIGV was added gene: PIGV was added to Hand and foot malformation. Sources: Expert Review Green,Expert list Mode of inheritance for gene: PIGV was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PIGV were set to Hyperphosphatasia with mental retardation syndrome 1 239300

Hand and foot malformations Gene: PIGV