Ocular coloboma

Gene: CHD7

Green List (high evidence)

CHD7 (chromodomain helicase DNA binding protein 7)
EnsemblGeneIds (GRCh38): ENSG00000171316
EnsemblGeneIds (GRCh37): ENSG00000171316
OMIM: 608892, Gene2Phenotype
CHD7 is in 25 panels

2 reviews

David FitzPatrick (University of Edinburgh)

Green List (high evidence)

This is a very rare cause of isolated coloboma. We have not seen a single mutation in >500 cases screened - it is clearly a cause of coloboma as part of CHARGE syndrome
Created: 2 Feb 2017, 10:14 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • CHARGE syndrome, 214800
OMIM
608892
Clinvar variants
Variants in CHD7
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

6 Feb 2017, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on 6th February 2016 by Alice Gardham

21 Dec 2016, Gel status: 4

Set mode of pathogenicity

Alice Gardham (Genomics England)

Mode of pathogenicity for CHD7 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

16 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

16 Nov 2016, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for CHD7 were set to 16400610

16 Nov 2016, Gel status: 4

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for CHD7 were set to CHARGE syndrome, 214800

16 Nov 2016, Gel status: 4

Upload gene information

Alice Gardham (Genomics England)

CHD7 was added to Ocular colobomapanel. Sources: UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Literature

16 Nov 2016, Gel status: 4

Set Mode of Inheritance

Alice Gardham (Genomics England)

Model of inheritance for gene CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

16 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

11 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

CHD7 was added to Ocular colobomapanel. Sources: UKGTN