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Inborn errors of metabolism

Gene: RANBP2

Amber List (moderate evidence)

RANBP2 (RAN binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000153201
EnsemblGeneIds (GRCh37): ENSG00000153201
OMIM: 601181, Gene2Phenotype
RANBP2 is in 7 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment 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

Olivia Niblock (Genomics England Curator)

Green List (high evidence)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Acute necrotizing encephalopathy (Other metabolic disorders)
OMIM
601181
Clinvar variants
Variants in RANBP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Aug 2019, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: ranbp2 has been classified as Amber List (Moderate Evidence).

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to RANBP2. Source London North GLH was added to RANBP2.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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)