Pituitary hormone deficiency
Gene: CHD7As 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 Jan 2019, 12:01 p.m.
Comment on list classification: Promoted from red t gree. CHD7 is confirmed to be associated with Hypogonadotropic hypogonadism in OMIM and Gene2Phenotype. It is a green gene on the IUGR and IGF abnormalities panel (Version 1.25) and Hypogonadotropic hypogonadism panel (Version 1.15). There are >3 unrelated case of patients with Hypogonadotropic hypogonadism with variants in the CHD7 gene in OMIM.Created: 12 Dec 2018, 1:25 p.m.
Ivone Leong: Comment on list classification
Gene: chd7 has been classified as Green List (High Evidence).
Gene: chd7 has been classified as Green List (High Evidence).
gene: CHD7 was added gene: CHD7 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CHD7 were set to CHARGE syndrome (214800); Hypogonadotropic hypogonadism 5 with or without anosmia (612370)