Likely inborn error of metabolism - targeted testing not possible
Gene: RANBP2Comment on list classification: Demoted RANBP2 from Green to Amber following review by Zornitza Stark and agreement from Helen Brittain (Genomics England clinical team). Recent papers report patients with symptoms (including seizures) after a viral illness (PMID:30796099, PMID:28336122, PMID:25128471). However, listed as a susceptibility locus in OMIM, and papers report incomplete penetrance: variant present in asymptomatic maternal grandmother in PMID:30796099 and in the father in PMID:28336122. Therefore further information (e.g. on penetrance) is required for a clear gene:disease association.Created: 1 Aug 2019, 10:30 a.m. | Last Modified: 1 Aug 2019, 10:30 a.m.
Panel Version: 1.71
At least 8 cases reported. On OMIM listed as susceptibility to encephalopathy, but literature indicates causal link and as a possible G2P gene.Created: 23 Feb 2017, 5:15 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Acute necrotizing encephalopathy (Other metabolic disorders)
Publications
Gene: ranbp2 has been classified as Amber List (Moderate Evidence).
Source NHS GMS was added to RANBP2. Source London North GLH was added to RANBP2.
Ellen McDonagh: Comment on mode of pathogenici
gene: RANBP2 was added gene: RANBP2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: RANBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RANBP2 were set to 27604308 Phenotypes for gene: RANBP2 were set to Acute necrotizing encephalopathy (Other metabolic disorders)