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  2. Severe Combined Immunodeficiency (absent T absent B cells)
  3. RAG1
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Severe Combined Immunodeficiency (absent T absent B cells)

Gene: RAG1

Green List (high evidence)
RAG1 (recombination activating 1)
EnsemblGeneIds (GRCh38): ENSG00000166349
EnsemblGeneIds (GRCh37): ENSG00000166349
OMIM: 179615, Gene2Phenotype
RAG1 is in 9 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Well established SCID gene.
Created: 11 May 2020, 10:16 a.m. | Last Modified: 11 May 2020, 10:16 a.m.
Panel Version: 0.10
Created: 11 May 2020, 10:16 a.m.
Last Modified: 11 May 2020, 10:16 a.m.
Panel version: 0.10

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 26689875; Reported 2 patients with classic SCID, 1 atypical SCID and one with Omen syndrome

PMID: 26186701: 1 patient with compound het variants in RAG1
Created: 11 May 2020, 12:53 a.m. | Last Modified: 11 May 2020, 12:53 a.m.
Panel Version: 0.7

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Severe combined immunodeficiency, B cell-negative (MIM#601457)

Publications

Created: 11 May 2020, 12:53 a.m.
Last Modified: 11 May 2020, 12:53 a.m.
Panel version: 0.7

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Severe combined immunodeficiency, B cell-negative (MIM#601457)
OMIM
179615
Clinvar variants
Variants in RAG1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rag1 has been classified as Green List (High Evidence).

11 May 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RAG1 were changed from to Severe combined immunodeficiency, B cell-negative (MIM#601457)

11 May 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RAG1 were set to

11 May 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RAG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RAG1 was added gene: RAG1 was added to Severe combined immunodeficiency (absent T, absent B cells)_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: RAG1 was set to Unknown