Disorders of sex development
Gene: CHD7
As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 29 Apr 2019, 9:46 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 14 variants reported.Created: 28 Nov 2016, 10:51 a.m.
Comment on phenotypes: Also associated with Hypogonadotropic hypogonadism 5 with or without anosmia, 612370 and Scoliosis, idiopathic 3, 608765Created: 28 Nov 2016, 10:44 a.m.
Promoted to V1 21/12/2016
This gene has been classified as Green List (High Evidence).
Phenotypes for CHD7 were set to CHARGE syndrome, 214800
Phenotypes for gene CHD7 were set to Hypogonadotropic hypogonadism 5 with or without anosmia, 612370; CHARGE syndrome, 214800; Scoliosis, idiopathic 3, 608765
Phenotypes for gene CHD7 were set to Hypogonadotropic hypogonadism 5 with or without anosmia, 612370 CHARGE syndrome, 214800 Scoliosis, idiopathic 3, 608765
CHD7 was created by sleigh
CHD7 was added to Disorders of sex developmentpanel. Sources: OMIM,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services