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DDG2P

Gene: PIGQ

Red List (low evidence)

PIGQ (phosphatidylinositol glycan anchor biosynthesis class Q)
EnsemblGeneIds (GRCh38): ENSG00000007541
EnsemblGeneIds (GRCh37): ENSG00000007541
OMIM: 605754, Gene2Phenotype
PIGQ is in 4 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: possible.
Created: 19 Nov 2018, 11:30 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • SEVERE EARLY-ONSET EPILEPSY
OMIM
605754
Clinvar variants
Variants in PIGQ
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: possibl

19 Nov 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: PIGQ was added gene: PIGQ was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PIGQ was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGQ were set to 24463883 Phenotypes for gene: PIGQ were set to SEVERE EARLY-ONSET EPILEPSY