Combined Immunodeficiency
Gene: RAD50EnsemblGeneIds (GRCh38): ENSG00000113522
EnsemblGeneIds (GRCh37): ENSG00000113522
OMIM: 604040, Gene2Phenotype
RAD50 is in 7 panels
1 review
Peter McNaughton (Queensland Children's Hospital)
In addition to the clinical characteristics of growth retardation, microcephaly, fetal growth restriction and skin manifestations patients develop immune deficiency with variable penetrance characterised by hypogammaglobulinaemia, low naïve T cells and low B cells with low or undetectable κ-deleting recombination excision circles similar to the immune deficiency seen in AT and NBS.
Sources: LiteratureCreated: 16 Oct 2023, 1:19 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypogammaglobulinaemia
Publications
- PMID: 37794136
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Nijmegen breakage syndrome-like disorder, MIM# 613078
- Hypogammaglobulinaemia
- OMIM
- 604040
- Clinvar variants
- Variants in RAD50
- Penetrance
- None
- Publications
-
- PMID: 37794136
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rad50 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: RAD50 were changed from Hypogammaglobulinaemia to Nijmegen breakage syndrome-like disorder, MIM# 613078; Hypogammaglobulinaemia
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rad50 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Peter McNaughton (Queensland Children's Hospital)gene: RAD50 was added gene: RAD50 was added to Combined Immunodeficiency. Sources: Literature Mode of inheritance for gene: RAD50 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAD50 were set to PMID: 37794136 Phenotypes for gene: RAD50 were set to Hypogammaglobulinaemia Review for gene: RAD50 was set to GREEN