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Epileptic encephalopathy

Gene: RANBP2

Green List (high evidence)

RANBP2 (RAN binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000153201
EnsemblGeneIds (GRCh37): ENSG00000153201
OMIM: 601181, Gene2Phenotype
RANBP2 is in 6 panels

2 reviews

Andrea Haworth (ACGS, Congenica)

The condition associated with RANBP2 is reported in gene reviews and other publications as monoallelic with incomplete penetrance
https://www.ncbi.nlm.nih.gov/books/NBK258641/
PMID: 25522933
PMID: 19118815
Created: 30 Sep 2017, 8:57 a.m.

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on publications: publications suggested by Andrea Haworth (ACGS, Congenica) as evidence for autosomal incomplete penetrance
Created: 9 Oct 2017, 10:42 a.m.
Comment on "Treatable" tag: Early diagnosis could allow potentially beneficial measures, such as ensuring up-to-date immunization status (eg, against influenza), though full protection against all inciting agents would not be possible
Created: 20 Mar 2017, 11:22 a.m.
Inclusion of this as a green gene on this panel is appropriate, based on the review in the Undiagnosed metabolic disorders panel and the views of clinical expert, Dr Arianna Tucci, UCL.
Created: 20 Mar 2017, 11:21 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
{Encephalopathy, acute, infection-induced, 3, susceptibility to} 608033

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • {Encephalopathy, acute, infection-induced, 3, susceptibility to} 608033
Tags
treatable
OMIM
601181
Clinvar variants
Variants in RANBP2
Penetrance
Incomplete
Publications
Panels with this gene

History Filter Activity

9 Oct 2017, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for RANBP2 were set to 25522933;19118815

20 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Mar 2017, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

RANBP2 was added to Epileptic encephalopathypanel. Sources: Expert Review

20 Mar 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

RANBP2 was created by sleigh