Pituitary hormone deficiency
Gene: PROKR2As 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, 12:05 p.m.
Comment on list classification: Promoted from red to green. PROKR2 is confirmed to be associated with Hypogonadotropic hypogonadism 3 with or without anosmia in OMIM but not in Gene2Phenotype. It is also a green gene in the IUGR and IGF abnormalities (Version 1.25) panel and Hypogonadotropic hypogonadism panel (Version 1.15). There are >3 unrelated cases of patients with growth/pituitary hormone deficiency who have variants in this gene.Created: 12 Dec 2018, 11:21 a.m.
Ivone Leong: Comment on list classification
Gene: prokr2 has been classified as Green List (High Evidence).
Gene: prokr2 has been classified as Green List (High Evidence).
Publications for gene: PROKR2 were set to
gene: PROKR2 was added gene: PROKR2 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: PROKR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PROKR2 were set to Hypogonadotropic hypogonadism 3 with or without anosmia (244200)