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Intellectual disability

Gene: RANBP2

Red List (low evidence)

RANBP2 (RAN binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000153201
EnsemblGeneIds (GRCh37): ENSG00000153201
OMIM: 601181, Gene2Phenotype
RANBP2 is in 8 panels

5 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Comment on list classification: Changed from Green to Red there is not enough evidence to support gene-disease association to ID. Rated red due to current information in the literature, external expert review and internal clinical review
Created: 27 Jul 2018, 2:58 p.m.
After clinical review it as agreed that a red rating seems appropriate as any intellectual impairment comes after the encephalopathy induced by infection. Therefore the presentation is not in keeping with the indication for the ID panel.
Created: 27 Jul 2018, 2:55 p.m.
Due to a Red external review from external reviewer, and looking at the info again in the literature I am not sure why this gene was rated as Green based on the evidence, it is a confirmed G2P but is listed as a brain/cognition gene, this is not ID. Past onto internal clinical team for further review and consideration to downgrade rating.
Created: 26 Jul 2018, 11:38 a.m.

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Firstly, this is unlikely to present with intellectual disability but rather neurodegeneration in the context of infectious illness, and secondly, this is generally considered a susceptibility locus rather than a true monogenic condition.
Created: 21 Jun 2018, 9:23 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
ACUTE NECROTIZING ENCEPHALOPATHY 1, SUSCEPTIBILITY TO

Publications

Sarah Leigh (Genomics England Curator)

Comment on list classification: At least 8 cases reported. On OMIM listed as susceptibility to encephalopathy, but literature indicates causal link and as a possible G2P gene. Richard Scott confirmed that it is appropriate for this gene to be green on this panel
Created: 27 Feb 2017, 4:45 p.m.

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

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

History Filter Activity

27 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: ranbp2 has been classified as Red List (Low Evidence).

12 Mar 2018, Gel status: 3

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

27 Feb 2017, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for RANBP2 were set to {Encephalopathy, acute, infection-induced, 3, susceptibility to} 608033

27 Feb 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).

27 Feb 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).

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

RANBP2 was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

RANBP2 was created by ellenmcdonagh