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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 9 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
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
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
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.
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