Familial Hirschsprung Disease

Gene: PIGV

Red List (low evidence)

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

2 reviews

Rebecca Foulger (Genomics England curator)

Comment on list classification: Kept rating as Red based on Erwin's expert review. Hirschsprung's disease is a variable feature of MIM:239300 and further information is needed on the Horn et al. variants before including on a diagnostic panel. Added 'watchlist' tag to be informed of additional cases.
Created: 18 Oct 2017, 9:01 a.m.
Horn et al 2014 (PMID:24129430) investigated 16 individuals diagnosed with hyperphosphatasia-mental retardation syndrome (HPMRS) from Germany, Croatia and Pakistani-origin. Homozygous or compound heterozygous variants in PIGV were found in 9 affected individuals from 8 familie- the most frequent variant was c.1022C>A with
c.176T>G, c.53G>A, c.905T>C, and c.1405C>T also being identified. In 5 of the 9 patients, Hirschsprung disease was diagnosed.
Created: 3 Aug 2017, 2:57 p.m.
Horn et al (PMID:21739589) report a patient (patient 1) with Hyperphosphatasia-mental retardation syndrome and Hirschsprung disease. The patient had compound heterozygous variants c.467G>A and c.1022C>A.
Created: 3 Aug 2017, 2:45 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperphosphatasia-mental retardation syndrome (MIM:239300) and Hirschsprung disease

Publications

Erwin Brosens (Erasmus MC)

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Hyperphosphatasia with mental retardation syndrome 1, MIM:239300 and Hirschsprung disease
Tags
watchlist
OMIM
610274
Clinvar variants
Variants in PIGV
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

18 Oct 2017, Gel status: 1

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

18th October 2017: Revised and approved to Version 1.0 after expert and curator review. An expert list from Mr. Simon Kenny and Professor Robert Hofstra's groups (Alder Hey - Erasmus MC) formed the basis of the original panel. The expert list was then expanded based on a review of literature. Many of the literature genes remain red on the V1.0 panel as they were identified through association studies and/or they represent susceptibility/risk factors for Hirschsprung's disease (HSCR). Sumita Chhabra (Alder Hey) and Erwin Brosens (Erasmus) provided extensive feedback for genes on the panel, together with reviews from Merce Garcia-Barcelo.

18 Oct 2017, Gel status: 1

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Red List (Low Evidence).

18 Oct 2017, Gel status: 0

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for PIGV were set to Hyperphosphatasia with mental retardation syndrome 1, MIM:239300 and Hirschsprung disease

3 Aug 2017, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for PIGV were set to 21739589; 24129430

5 Jun 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

PIGV was created by rfoulger

5 Jun 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

PIGV was added to Familial Hirschsprung Diseasepanel. Sources: Other