Pituitary hormone deficiencyGene: GHRHR
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 Jan 2019, 12:02 p.m.
GHRHR is associated wtih isolated growth hormone deficiency in OMIM only. It is a green gene on the IUGR and IGF abnormalities panel (Version 1.25). There are >3 unrelated cases of patients with growth hormone deficiency who have GHRHR variants.
Created: 10 Dec 2018, 1:29 p.m.
Ivone Leong: GHRHR is associated wtih isola
Gene: ghrhr has been classified as Green List (High Evidence).
Mode of inheritance for gene: GHRHR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: GHRHR was added gene: GHRHR was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Literature Mode of inheritance for gene: GHRHR was set to Unknown Phenotypes for gene: GHRHR were set to Growth hormone deficiency, isolated, type IV (618157)