Defects of intrinsic and innate immunity

Gene: RANBP2

Green List (high evidence)

RANBP2 (RAN binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000153201
EnsemblGeneIds (GRCh37): ENSG00000153201
OMIM: 601181, Gene2Phenotype
RANBP2 is in 5 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

>3 unrelated cases reported, many with the same variant which was shown to arise independently and not a founder mutation.
Sources: Expert list
Created: 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

19 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ranbp2 has been classified as Green List (High Evidence).

19 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ranbp2 has been classified as Green List (High Evidence).

19 Mar 2021, Gel status: 1

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