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Mendeliome

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.
Created: 30 Apr 2022, 7:48 a.m. | Last Modified: 30 Apr 2022, 7:48 a.m.
Panel Version: 0.13481

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Immunodeficiency 60 and autoimmunity, MIM# 618394

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 60 and autoimmunity, MIM# 618394
OMIM
605394
Clinvar variants
Variants in BACH2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Apr 2022, 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).

30 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BACH2 were changed from to Immunodeficiency 60 and autoimmunity, MIM# 618394

30 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BACH2 were set to

30 Apr 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: BACH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BACH2 was added gene: BACH2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: BACH2 was set to Unknown