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Primary immunodeficiency

Gene: CARD10

Red List (low evidence)

CARD10 (caspase recruitment domain family member 10)
EnsemblGeneIds (GRCh38): ENSG00000100065
EnsemblGeneIds (GRCh37): ENSG00000100065
OMIM: 607209, Gene2Phenotype
CARD10 is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark. Rating Red as at present only a single family has been reported as affected by immunodeficiency with autoimmunity due to a homozygoys variant in this gene (PMID: 32238915)
Created: 4 Jan 2022, 2:38 p.m. | Last Modified: 4 Jan 2022, 2:39 p.m.
Panel Version: 2.500

Zornitza Stark (Australian Genomics)

Red List (low evidence)

A pair of siblings reported with adult onset of recurrent infections, allergies, microcytic anaemia, and Crohn disease. Homozygous missense variant.
Sources: Literature
Created: 4 Dec 2021, 2:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 89 and autoimmunity, MIM# 619632

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Immunodeficiency 89 and autoimmunity, OMIM:619632
OMIM
607209
Clinvar variants
Variants in CARD10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: card10 has been classified as Red List (Low Evidence).

4 Jan 2022, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CARD10 were changed from Immunodeficiency 89 and autoimmunity, MIM# 619632 to Immunodeficiency 89 and autoimmunity, OMIM:619632

4 Dec 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: CARD10 was added gene: CARD10 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: CARD10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CARD10 were set to 32238915 Phenotypes for gene: CARD10 were set to Immunodeficiency 89 and autoimmunity, MIM# 619632 Review for gene: CARD10 was set to RED