Defects of intrinsic and innate immunity
Gene: RANBP2EnsemblGeneIds (GRCh38): ENSG00000153201
EnsemblGeneIds (GRCh37): ENSG00000153201
OMIM: 601181, Gene2Phenotype
RANBP2 is in 5 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
>3 unrelated cases reported, many with the same variant which was shown to arise independently and not a founder mutation.
Sources: Expert listCreated: 19 Mar 2021, 3:54 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
{Encephalopathy, acute, infection-induced, 3, susceptibility to} MIM#608033
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- {Encephalopathy, acute, infection-induced, 3, susceptibility to} MIM#608033
- OMIM
- 601181
- Clinvar variants
- Variants in RANBP2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ranbp2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ranbp2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: RANBP2 was added gene: RANBP2 was added to Defects of innate immunity. Sources: Expert list Mode of inheritance for gene: RANBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RANBP2 were set to 19118815; 25128471; 25522933; 32048120 Phenotypes for gene: RANBP2 were set to {Encephalopathy, acute, infection-induced, 3, susceptibility to} MIM#608033 Review for gene: RANBP2 was set to GREEN