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Primary immunodeficiency

Gene: CRACR2A

No list

CRACR2A (calcium release activated channel regulator 2A)
EnsemblGeneIds (GRCh38): ENSG00000130038
EnsemblGeneIds (GRCh37): ENSG00000130038
OMIM: 614178, Gene2Phenotype
CRACR2A is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

Red List (low evidence)

PMID:34908525 - one patient compound het (missense and PTC) with late onset combined immunodeficiency (current chest infections, panhypogammaglobulinemia and CD4+T cell lymphopenia). Functional studies showed defective JNK phosphorylation, defective SOCE and impaired cytokine production.
Sources: Literature
Created: 3 Feb 2022, 9:05 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
late onset combined immunodeficiency

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • late onset combined immunodeficiency
OMIM
614178
Clinvar variants
Variants in CRACR2A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Feb 2022, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: CRACR2A was added gene: CRACR2A was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: CRACR2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CRACR2A were set to PMID:34908525 Phenotypes for gene: CRACR2A were set to late onset combined immunodeficiency Review for gene: CRACR2A was set to RED