Familial Hirschsprung Disease
Gene: BACE2EnsemblGeneIds (GRCh38): ENSG00000182240
EnsemblGeneIds (GRCh37): ENSG00000182240
OMIM: 605668, Gene2Phenotype
BACE2 is in 1 panel
2 reviews
Rebecca Foulger (Genomics England curator)
Comment when marking as ready: Marked as ready (awaiting publication): August 28th 2017.Created: 28 Aug 2017, 10:21 a.m.
Comment on list classification: Updated rating from Grey to Red: Gene added by Merce GARCIA-BARCELO (HK University). The publication will be submitted shortly [email correspondance]. Kept rating as Red and added 'watchlist' tag to revise rating when paper is published.Created: 16 Aug 2017, 7:40 a.m.
Merce Garcia-Barcelo (The University of Hong kong)
Data not yet publishedCreated: 16 Aug 2017, 7:38 a.m.
Phenotypes
HSCR
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- HSCR
- Tags
- OMIM
- 605668
- Clinvar variants
- Variants in BACE2
- 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.
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for BACE2 was changed to Unknown
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for BACE2 was changed to Unknown
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Merce Garcia-Barcelo (The University of Hong kong)BACE2 was added to Familial Hirschsprung Diseasepanel. Sources: Other
Created
Merce Garcia-Barcelo (The University of Hong kong)BACE2 was created by Merce