Cataract
Gene: RAG2
RAG2 (recombination activating 2)
EnsemblGeneIds (GRCh38): ENSG00000175097
EnsemblGeneIds (GRCh37): ENSG00000175097
OMIM: 179616, Gene2Phenotype
RAG2 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000175097
EnsemblGeneIds (GRCh37): ENSG00000175097
OMIM: 179616, Gene2Phenotype
RAG2 is in 10 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
No evidence that cataracts are a feature of the condition.Created: 15 Apr 2020, 3:43 a.m. | Last Modified: 15 Apr 2020, 3:43 a.m.
Panel Version: 0.122
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined cellular and humoral immune defects with granulomas MIM#233650; Omenn syndrome MIM#603554; Severe combined immunodeficiency, B cell-negative MIM#601457
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- OMIM
- 179616
- Clinvar variants
- Variants in RAG2
- Penetrance
- None
- Panels with this gene
History Filter Activity
15 Apr 2020, Gel status: 1
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: rag2 has been classified as Red List (Low Evidence).
15 Apr 2020, Gel status: 1
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: rag2 has been classified as Red List (Low Evidence).
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: RAG2 was added gene: RAG2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RAG2 was set to Unknown