Familial Hirschsprung Disease
Gene: MBTPS2EnsemblGeneIds (GRCh38): ENSG00000012174
EnsemblGeneIds (GRCh37): ENSG00000012174
OMIM: 300294, Gene2Phenotype
MBTPS2 is in 12 panels
2 reviews
Erwin Brosens (Erasmus MC)
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
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.
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Rebecca Foulger (Genomics England curator)MBTPS2 was added to Familial Hirschsprung Diseasepanel. Sources: Other
Created
Rebecca Foulger (Genomics England curator)MBTPS2 was created by rfoulger