BACH2

BTB domain and CNC homolog 2
OMIM: 605394, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green BACH2 in Infantile enterocolitis & monogenic inflammatory bowel disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.44

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Immunodeficiency 60, OMIM:618394
  • inflammatory bowel disease
  • recurrent sinopulmonary infections
Green BACH2 in COVID-19 research


Level 2: Viral research
Version 1.142

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • Expert Review Green
  • IUIS Classification February 2018
Phenotypes
  • Diseases of Immune Dysregulation
  • BACH2-related immunodeficiency and autoimmunity (BRIDA)
  • hypogammaglobulinaemia
  • infantile onset enterocolitis
  • Lymphocytic colitis, sinopulmonary infections
Green BACH2 in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
Phenotypes
  • Lymphocytic colitis, sinopulmonary infections
  • Diseases of Immune Dysregulation
  • infantile onset enterocolitis
  • hypogammaglobulinaemia
  • BACH2-related immunodeficiency and autoimmunity (BRIDA)
Green BACH2 in Severe Paediatric Disorders


Version 1.184

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Immunodeficiency 60, 618394