Familial Hirschsprung Disease

Gene: MBTPS2

Red List (low evidence)

MBTPS2 (membrane bound transcription factor peptidase, site 2)
EnsemblGeneIds (GRCh38): ENSG00000012174
EnsemblGeneIds (GRCh37): ENSG00000012174
OMIM: 300294, Gene2Phenotype
MBTPS2 is in 10 panels

2 reviews

Erwin Brosens (Erasmus MC)

Red List (low evidence)

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: Marked MBTPS2 as ready: August 3rd 2017. Red review plus insufficient evidence for role of MBTPS2 in Hirschsprung disease. Therefore remaining on the panel as red/research gene only.
Created: 3 Aug 2017, 10:30 a.m.
The IFAP/BRESHECK syndrome is an X-linked multiple congenital anomaly disorder. Some patients have additional features, including Hirschsprung disease.
Created: 5 Jun 2017, 2:06 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
IFAP syndrome with or without BRESHECK syndrome, 308205

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Other
Phenotypes
  • IFAP syndrome with or without BRESHECK syndrome, 308205
OMIM
300294
Clinvar variants
Variants in MBTPS2
Penetrance
Complete
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.

3 Aug 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).

5 Jun 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

MBTPS2 was added to Familial Hirschsprung Diseasepanel. Sources: Other

5 Jun 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

MBTPS2 was created by rfoulger