Familial Hirschsprung DiseaseGene: PIGV
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
Hyperphosphatasia-mental retardation syndrome (MIM:239300) and Hirschsprung disease
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.
This gene has been classified as Red List (Low Evidence).
Phenotypes for PIGV were set to Hyperphosphatasia with mental retardation syndrome 1, MIM:239300 and Hirschsprung disease
Publications for PIGV were set to 21739589; 24129430
PIGV was created by rfoulger
PIGV was added to Familial Hirschsprung Diseasepanel. Sources: Other