RAG2

recombination activating 2
OMIM: 179616, ClinGen, DECIPHER

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Red RAG2 in Cataract


Level 2: Ophthalmological disorders
Version 1.0

1 review Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services

Green RAG2 in Inflammatory bowel disease


Level 2: Gastroenterological disorders
Version 1.0

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green RAG2 in Mendeliome


Version 2.0

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Recombinase activating gene 2 deficiency MONDO:0000573

Green RAG2 in Combined Immunodeficiency


Level 2: Immunological disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Recombinase activating gene 2 deficiency MONDO:0000573

Green RAG2 in Severe Combined Immunodeficiency


Level 2: Immunological disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Expert Review Green
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Recombinase activating gene 2 deficiency MONDO:0000573

Green RAG2 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Severe combined immunodeficiency, B cell-negative, 601457 (3)

Green RAG2 in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Omenn syndrome

Green RAG2 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Severe combined immunodeficiency, B cell-negative, 601457 (3)

Green RAG2 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
  • BEginNGS
Phenotypes
  • Recombinase activating gene 2 deficiency MONDO:0000573
Tags
  • treatable
  • immunological

Green RAG2 in Prepair 500+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Combined cellular and humoral immune defects with granulomas (MIM#233650)
  • Omenn syndrome (MIM#603554)
  • Severe combined immunodeficiency, B cell-negative (MIM#601457)