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  3. BCL10
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Combined Immunodeficiency

Gene: BCL10

Green List (high evidence)
BCL10 (B-cell CLL/lymphoma 10)
EnsemblGeneIds (GRCh38): ENSG00000142867
EnsemblGeneIds (GRCh37): ENSG00000142867
OMIM: 603517, Gene2Phenotype
BCL10 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two unrelated individuals and two mouse models.
Created: 9 Apr 2020, 1:23 a.m. | Last Modified: 9 Apr 2020, 1:23 a.m.
Panel Version: 0.102

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 37, MIM# 616098

Publications

Created: 9 Apr 2020, 1:23 a.m.
Last Modified: 9 Apr 2020, 1:23 a.m.
Panel version: 0.102

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 37, MIM# 616098
OMIM
603517
Clinvar variants
Variants in BCL10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bcl10 has been classified as Green List (High Evidence).

9 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BCL10 were changed from to Immunodeficiency 37, MIM# 616098

9 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BCL10 were set to

9 Apr 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: BCL10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BCL10 was added gene: BCL10 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: BCL10 was set to Unknown