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  2. Disorders of immune dysregulation
  3. CARD10
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Disorders of immune dysregulation

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 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; 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: Expert list
Created: 1 Dec 2021, 3:12 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 89 and autoimmunity, MIM# 619632

Publications

Created: 1 Dec 2021, 3:12 a.m.

Panel version: 0.100

Details

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

History Filter Activity

1 Dec 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Dec 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CARD10 was added gene: CARD10 was added to Disorders of immune dysregulation. Sources: Expert list 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