1. Panels
  2. DDG2P
  3. PIGQ
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

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 5 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category for the disease SEVERE EARLY-ONSET EPILEPSY is limited. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:24463883).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SEVERE EARLY-ONSET EPILEPSY

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 3.12

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: According to Joanna Peas-Welch (OMIM), Multiple congenital anomalies-hypotonia-seizures syndrome-4 (MCAHS4) will replace Epileptic encephalopathy, early infantile, 77, 618548 as the name for this phenotype (12/11/2020).
Created: 17 Nov 2020, 10:08 a.m. | Last Modified: 17 Nov 2020, 10:08 a.m.
Panel Version: 2.12
Created: 17 Nov 2020, 10:08 a.m.
Last Modified: 17 Nov 2020, 10:08 a.m.
Panel version: 2.12

Rebecca Foulger (Genomics England curator)

I don't know

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

Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • Multiple congenital anomalies-hypotonia-seizures syndrome-4 OMIM:618548
OMIM
605754
Clinvar variants
Variants in PIGQ
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Nov 2020, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: PIGQ were changed from SEVERE EARLY-ONSET EPILEPSY to Multiple congenital anomalies-hypotonia-seizures syndrome-4 OMIM:618548

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