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Differences in sex development

Gene: CBX2

Red List (low evidence)
CBX2 (chromobox 2)
EnsemblGeneIds (GRCh38): ENSG00000173894
EnsemblGeneIds (GRCh37): ENSG00000173894
OMIM: 602770, Gene2Phenotype
CBX2 is in 1 panel

3 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. Only two variants reported in one compound heterozygous case.
Created: 13 Sep 2016, 7:46 a.m.
Created: 13 Sep 2016, 7:46 a.m.

Panel version: 0.179

John Achermann (UCL Institute of Child Health)

Red List (low evidence)

Very limited number of individuals with CBX2 variants reported. May also affect a CBX.2 isoform so some care needed here to know which is important
Created: 4 Feb 2016, 2:54 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 4 Feb 2016, 2:54 p.m.

Panel version: 0.47

Ellen McDonagh (Genomics England Curator)

Phenotypes from OMIM.
Created: 11 Jan 2016, 10:26 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • Gender Assignment Gene Panel (UKGTN)
  • 46XY sex reversal 5, 613080
OMIM
602770
Clinvar variants
Variants in CBX2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

21 Dec 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 21/12/2016

13 Sep 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 Sep 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 Sep 2016, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for CBX2 were set to 23219007; 19361780

20 May 2016, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene CBX2 were set to Gender Assignment Gene Panel (UKGTN); 46XY sex reversal 5, 613080

20 May 2016, Gel status: 2

Upload gene information

Sarah Leigh (Genomics England Curator)

CBX2 was added to Disorders of sex developmentpanel. Sources: UKGTN,Other,Radboud University Medical Center, Nijmegen

20 May 2016, Gel status: 2

clearsources

Sarah Leigh (Genomics England Curator)

CBX2All sources for gene: CBX2 were removed

20 May 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

CBX2 was added to Disorders of sex developmentpanel. Source: UKGTN

20 May 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

CBX2 was added to Disorders of sex developmentpanel. Source: Radboud University Medical Center, Nijmegen

20 May 2016, Gel status: 0

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene CBX2 was set to BIALLELIC, autosomal or pseudoautosomal

11 Jan 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CBX2 was added to Disorders of sex developmentpanel. Sources: UKGTN,Other

11 Jan 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CBX2 was created by ellenmcdonagh