Common Variable Immunodeficiency
Gene: CD81EnsemblGeneIds (GRCh38): ENSG00000110651
EnsemblGeneIds (GRCh37): ENSG00000110651
OMIM: 186845, Gene2Phenotype
CD81 is in 6 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
Comment on list classification: On the IUIS CVID phenotype gene list for human inborn errors of immunity (PMID: 32048120).Created: 21 Jul 2020, 2:07 a.m. | Last Modified: 21 Jul 2020, 2:07 a.m.
Panel Version: 0.43
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
PMID:35849269 - Second patient reported with compound heterozygous variants (c.67–1 G > T and p.D137Mfs*10). The major manifestation of this patient was IgA nephropathy with aberrant serum galactose-deficient IgA1 and not recurrent infections.Created: 2 Nov 2023, 1:40 a.m. | Last Modified: 2 Nov 2023, 1:40 a.m.
Panel Version: 1.8
Single individual reported, functional data.Created: 10 Apr 2020, 2:42 a.m. | Last Modified: 10 Apr 2020, 2:42 a.m.
Panel Version: 0.9
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency, common variable, 6, MIM# 613496
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Melbourne Genomics Health Alliance Immunology Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- Immunodeficiency, common variable, 6, MIM# 613496
- OMIM
- 186845
- Clinvar variants
- Variants in CD81
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CD81 were set to 20237408; 35849269
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CD81 were set to 20237408
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cd81 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: cd81 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cd81 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CD81 were changed from to Immunodeficiency, common variable, 6, MIM# 613496
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CD81 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: CD81 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cd81 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CD81 was added gene: CD81 was added to Common Variable Immunodeficiency_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: CD81 was set to Unknown