Hypogonadotropic hypogonadism (GMS)
Gene: GNRH1The rating of this gene has been updated to GREEN following NHS Genomic Medicine Service approval.Created: 31 Jan 2023, 5:03 p.m. | Last Modified: 31 Jan 2023, 5:03 p.m.
Panel Version: 2.5
This gene is associated with a relevant phenotype in OMIM but not Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.Created: 29 Mar 2021, 1:09 p.m. | Last Modified: 29 Mar 2021, 1:09 p.m.
Panel Version: 1.33
At least 6 families reported.Created: 18 Jul 2020, 7:21 a.m. | Last Modified: 18 Jul 2020, 7:21 a.m.
Panel Version: 1.8
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypogonadotropic hypogonadism 12 with or without anosmia, MIM# 614841
Publications
Variants in this GENE are reported as part of current diagnostic practice
Rare founder mutationCreated: 22 Mar 2019, 5:03 p.m.
Tag Q2_21_rating was removed from gene: GNRH1.
Source Expert Review Green was added to GNRH1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_21_rating tag was added to gene: GNRH1.
Phenotypes for gene: GNRH1 were changed from Hypogonadotropic hypogonadism 12 with or without anosmia, OMIM:614841 to ?Hypogonadotropic hypogonadism 12 with or without anosmia, OMIM:614841
Phenotypes for gene: GNRH1 were changed from Hypogonadotropic hypogonadism type 12 (OMIM 614841) to Hypogonadotropic hypogonadism 12 with or without anosmia, OMIM:614841
Publications for gene: GNRH1 were set to
Gene: gnrh1 has been classified as Amber List (Moderate Evidence).
Source Wessex and West Midlands GLH was added to GNRH1.
Added phenotypes Hypogonadotropic hypogonadism type 12 (OMIM 614841) for gene: GNRH1
gene: GNRH1 was added gene: GNRH1 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS Mode of inheritance for gene: GNRH1 was set to BIALLELIC, autosomal or pseudoautosomal