Choanal atresia

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 23 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotypes in OMIM and G2P. Numerous variants reported in CHARGE syndrome, 214800
Created: 10 Aug 2016, 1:37 p.m.
Comment on phenotypes: Variants also reported in Hypogonadotropic hypogonadism 5 with or without anosmia, 612370 and may be associated with Scoliosis, idiopathic 3, 608765
Created: 10 Aug 2016, 1:36 p.m.

Jill Clayton-Smith (Manchester Centre For Genomic Medicine)

Green List (high evidence)

Variable expression. High evidence
Created: 13 Oct 2015, 11:05 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
choanal atresia; congenital heart disease; coloboma; renal malformations; genital anomalies; facial palsy, abnormal ear helix; poor growth, hearing loss, limb defects

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

11 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1, 11th August 2016

10 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

10 Aug 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for CHD7 were set to CHARGE syndrome, 214800

10 Aug 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for CHD7 were set to CHARGE syndrome, 214800; Hypogonadotropic hypogonadism 5 with or without anosmia, 612370{Scoliosis, idiopathic 3}, 608765; CHARGE Syndrome; CHARGE syndrome

10 Aug 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for CHD7 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

12 Aug 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

CHD7 was added to Choanal atresiapanel. Sources: Eligibility statement prior genetic testing

28 Apr 2015, Gel status: 4

Added New Source

GEL ()

CHD7 was added to Choanal atresiapanel. Sources: Emory Genetics Laboratory

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

CHD7 was added to Choanal atresiapanel. Sources: Illumina TruGenome Clinical Sequencing Services

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

CHD7 was added to Choanal atresiapanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

CHD7 was added to Choanal atresiapanel. Sources: UKGTN