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  2. Combined Immunodeficiency
  3. CRACR2A
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Combined Immunodeficiency

Gene: CRACR2A

Red List (low evidence)
CRACR2A (calcium release activated channel regulator 2A)
EnsemblGeneIds (GRCh38): ENSG00000130038
EnsemblGeneIds (GRCh37): ENSG00000130038
OMIM: 614178, Gene2Phenotype
CRACR2A is in 2 panels

1 review

Dean Phelan (Victorian Clinical Genetics Services)

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.

Further search did not identify any additional publications.
Sources: Literature
Created: 7 Jan 2022, 4:22 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
HP:0005387; late onset combined immunodeficiency

Publications

Created: 7 Jan 2022, 4:22 a.m.

Panel version: 1.6

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • primary immunodeficiency disease, MONDO:0003778, CRACR2A-associated
  • late onset combined immunodeficiency
OMIM
614178
Clinvar variants
Variants in CRACR2A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: cracr2a has been classified as Red List (Low Evidence).

7 Jan 2022, Gel status: 1

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: CRACR2A were changed from HP:0005387; late onset combined immunodeficiency to primary immunodeficiency disease, MONDO:0003778, CRACR2A-associated; late onset combined immunodeficiency

7 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: cracr2a has been classified as Red List (Low Evidence).

7 Jan 2022, Gel status: 0

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

Dean Phelan (Victorian Clinical Genetics Services)

gene: CRACR2A was added gene: CRACR2A was added to Combined 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 HP:0005387; late onset combined immunodeficiency Review for gene: CRACR2A was set to RED