Epileptic encephalopathy
Gene: RANBP2The 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: 19118815Created: 30 Sep 2017, 8:57 a.m.
Comment on publications: publications suggested by Andrea Haworth (ACGS, Congenica) as evidence for autosomal incomplete penetranceCreated: 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 possibleCreated: 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
Publications for RANBP2 were set to 25522933;19118815
This gene has been classified as Green List (High Evidence).
RANBP2 was added to Epileptic encephalopathypanel. Sources: Expert Review
RANBP2 was created by sleigh