Predominantly Antibody Deficiency
Gene: CD81
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
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
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
Publications for gene: CD81 were set to 20237408; 35849269
Publications for gene: CD81 were set to 20237408; 35849269
Publications for gene: CD81 were set to 20237408
Gene: cd81 has been classified as Green List (High Evidence).
Gene: cd81 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: CD81 were changed from to Immunodeficiency, common variable, 6, MIM# 613496
Publications for gene: CD81 were set to
Mode of inheritance for gene: CD81 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Gene: cd81 has been classified as Amber List (Moderate Evidence).
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