DDG2P
Gene: PIGP

PIGP (phosphatidylinositol glycan anchor biosynthesis class P)
EnsemblGeneIds (GRCh38): ENSG00000185808
EnsemblGeneIds (GRCh37): ENSG00000185808
OMIM: 605938, Gene2Phenotype
PIGP is in 4 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease PIGP-associated multiple congenital anomalies-hypotonia-seizures syndrome is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure (PMID: 37125481;31139695;28334793;32042915).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.

Panel Version: 4.10

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
PIGP-associated multiple congenital anomalies-hypotonia-seizures syndrome

Publications

Created: 26 Sep 2024, 8:30 p.m.
Last Modified: 26 Sep 2024, 8:30 p.m.
Panel version: 4.10

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

PIGP-associated multiple congenital anomalies-hypotonia-seizures syndrome

OMIM

605938

Clinvar variants

Variants in PIGP

Penetrance

None

Publications

Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: PIGP was added gene: PIGP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PIGP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGP were set to 28334793; 31139695; 32042915; 37125481 Phenotypes for gene: PIGP were set to PIGP-associated multiple congenital anomalies-hypotonia-seizures syndrome

DDG2P Gene: PIGP