Predominantly Antibody Deficiency

Gene: CD81

Green List (high evidence)

CD81 (CD81 molecule)
EnsemblGeneIds (GRCh38): ENSG00000110651
EnsemblGeneIds (GRCh37): ENSG00000110651
OMIM: 186845, Gene2Phenotype
CD81 is in 6 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England)

Green List (high evidence)

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: 1 Nov 2023, 10:55 p.m. | Last Modified: 1 Nov 2023, 10:55 p.m.
Panel Version: 1.1330

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency, common variable, 6, OMIM:613496

Publications

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)

Green List (high evidence)

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, 1:36 a.m. | Last Modified: 2 Nov 2023, 1:36 a.m.
Panel Version: 0.127
Single individual reported, functional data.
Created: 10 Apr 2020, 2:26 a.m. | Last Modified: 10 Apr 2020, 2:26 a.m.
Panel Version: 0.31

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

2 Nov 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CD81 were set to 20237408; 35849269

2 Nov 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CD81 were set to 20237408; 35849269

2 Nov 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CD81 were set to 20237408

2 Nov 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cd81 has been classified as Green List (High Evidence).

10 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cd81 has been classified as Amber List (Moderate Evidence).

10 Apr 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CD81 were changed from to Immunodeficiency, common variable, 6, MIM# 613496

10 Apr 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CD81 were set to

10 Apr 2020, Gel status: 2

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

10 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cd81 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

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 Predominantly antibody deficiency_MelbourneGenomics_AustralianGenomics_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