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  3. BACH2
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Infantile enterocolitis & monogenic 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

2 reviews

Ivone Leong (Genomics England Curator)

Comment 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
Created: 1 Nov 2021, 4:13 p.m.
Last Modified: 1 Nov 2021, 4:13 p.m.
Panel version: 1.29

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Two families and a mouse model.
Sources: Expert list
Created: 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

Created: 25 Aug 2020, 8:05 a.m.

Panel version: 1.16

Details

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

History Filter Activity

1 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

1 Nov 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

25 Aug 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

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