Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: BACH2Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not Gene2Phenotype. This gene is Green on "Primary immunodeficiency" (ID: 298, version 2.481). There is enough evidence to support a gene-disease association. This gene has been given a Green rating.Created: 1 Nov 2021, 4:13 p.m. | Last Modified: 1 Nov 2021, 4:13 p.m.
Panel Version: 1.29
Two families and a mouse model.
Sources: Expert listCreated: 25 Aug 2020, 8:05 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Immunodeficiency 60, MIM# 618394; inflammatory bowel disease; recurrent sinopulmonary infections
Publications
Gene: bach2 has been classified as Green List (High Evidence).
Phenotypes for gene: BACH2 were changed from Immunodeficiency 60, MIM# 618394; inflammatory bowel disease; recurrent sinopulmonary infections to Immunodeficiency 60, OMIM:618394; inflammatory bowel disease; recurrent sinopulmonary infections
gene: BACH2 was added gene: BACH2 was added to Infantile enterocolitis & monogenic inflammatory bowel disease. Sources: Expert list Mode of inheritance for gene: BACH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BACH2 were set to 28530713 Phenotypes for gene: BACH2 were set to Immunodeficiency 60, MIM# 618394; inflammatory bowel disease; recurrent sinopulmonary infections Review for gene: BACH2 was set to GREEN