1. Panels
  2. Inflammatory bowel disease
  3. BACH2
STRs in panel
Prev Next
Regions in panel
Prev Next

Inflammatory bowel disease

Gene: BACH2

Green List (high evidence)
BACH2 (BTB domain and CNC homolog 2)
EnsemblGeneIds (GRCh38): ENSG00000112182
EnsemblGeneIds (GRCh37): ENSG00000112182
OMIM: 605394, Gene2Phenotype
BACH2 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two families and a mouse model.
Sources: Expert list
Created: 8 Jan 2020, 6:36 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Immunodeficiency 60, MIM# 618394; inflammatory bowel disease; recurrent sinopulmonary infections

Publications

Created: 8 Jan 2020, 6:36 a.m.

Panel version: 0.1

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Immunodeficiency 60, MIM# 618394
  • inflammatory bowel disease
  • recurrent sinopulmonary infections
OMIM
605394
Clinvar variants
Variants in BACH2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bach2 has been classified as Green List (High Evidence).

8 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bach2 has been classified as Green List (High Evidence).

8 Jan 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BACH2 was added gene: BACH2 was added to Inflammatory bowel disease_VCGS. 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