Choanal atresia
Gene: CHD7Comment when marking as ready: Associated with phenotypes in OMIM and G2P. Numerous variants reported in CHARGE syndrome, 214800Created: 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, 608765Created: 10 Aug 2016, 1:36 p.m.
Variable expression. High evidenceCreated: 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
Promoted to version 1, 11th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for CHD7 were set to CHARGE syndrome, 214800
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
Mode of inheritance for CHD7 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
CHD7 was added to Choanal atresiapanel. Sources: Eligibility statement prior genetic testing
CHD7 was added to Choanal atresiapanel. Sources: Emory Genetics Laboratory
CHD7 was added to Choanal atresiapanel. Sources: Illumina TruGenome Clinical Sequencing Services
CHD7 was added to Choanal atresiapanel. Sources: Radboud University Medical Center, Nijmegen
CHD7 was added to Choanal atresiapanel. Sources: UKGTN