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Intellectual disability

Gene: DIP2B

Amber List (moderate evidence)

DIP2B (disco interacting protein 2 homolog B)
EnsemblGeneIds (GRCh38): ENSG00000066084
EnsemblGeneIds (GRCh37): ENSG00000066084
OMIM: 611379, Gene2Phenotype
DIP2B is in 2 panels

4 reviews

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
MENTAL RETARDATION, FRA12A TYPE

Publications

Ellen McDonagh (Genomics England Curator)

I don't know

Possible DD gene for mental retardation in Gene2Phenotype. Mechanism reported in PMID: 17236128, a CGG repeat expansion within the 5' UTR of the DIP2B gene and methylation status.
Created: 27 Oct 2017, 2:46 p.m.

Publications

Alice Gardham (Genomics England)

Comment on mode of pathogenicity: Nucleotide repeat expansion. Tagged 5.12.16 by Alice Gardham
Created: 5 Dec 2016, 2:22 p.m.

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental retardation, FRA12A type, 136630
  • MENTAL RETARDATION, FRA12A TYPE
Tags
nucleotide-repeat-expansion epigenetics
OMIM
611379
Clinvar variants
Variants in DIP2B
Penetrance
Complete
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

28 Sep 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to DIP2B.

12 Mar 2018, Gel status: 2

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.

29 Nov 2017, Gel status: 2

Added New Source, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Amber was added to DIP2B. Panel: Intellectual disability Publications for gene DIP2B was set to ['17236128']

5 Dec 2016, Gel status: 1

Set mode of pathogenicity

Alice Gardham (Genomics England)

Mode of pathogenicity for DIP2B was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

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: 1

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

DIP2B was added to Intellectual disabilitypanel. Source: Expert Review Red Model of inheritance for gene DIP2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DIP2B was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen