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| Hypogonadotropic hypogonadism (GMS) v1.30 | KLB |
Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. This gene is not associated with a phenotype in OMIM or Gene2Phenotype. This gene is Green on the Hypogonadotropic hypogonadism (Version 1.29) panel and have the following review: "Rachel Jones (GSTT) Green List (high evidence) Publication by Pitteloud et al: "Genetic screening of 334 CHH patients identified seven heterozygous loss‐of‐function KLB mutations in 13 patients (4%). Most patients with KLB mutations (9/13) exhibited metabolic defects. In mice, lack of Klb led to delayed puberty, altered estrous cyclicity, and subfertility due to a hypothalamic defect associated with inability of GnRH neurons to release GnRH in response to FGF21." They also included functional analysis and showed decreased activity in response to FGF21 and FGF8 KLB is an obligate coreceptor for FGF21 alongside FGFR1 Created: 10 Mar 2020, 10:55 a.m. | Last Modified: 10 Mar 2020, 10:55 a.m. Panel Version: 1.27 Mode of inheritance MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes hypogonadotrophic hypogonadism Publications PMID: 28754744 Created: 10 Mar 2020, 10:55 a.m. Last Modified: 10 Mar 2020, 10:55 a.m. Panel version: 1.27" There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. |
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| Hypogonadotropic hypogonadism (GMS) v0.10 | FGF8 | Ivone Leong Classified gene: FGF8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.10 | FGF8 | Ivone Leong Gene: fgf8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.7 | FGF8 | Simon Thomas reviewed gene: FGF8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.6 | FGF8 | Ivone Leong Source Wessex and West Midlands GLH was added to FGF8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.5 | FGF8 | Martina Owens reviewed gene: FGF8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.4 | FGF8 | Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 6 (OMIM 612702) for gene: FGF8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.3 | FGF8 |
Ivone Leong gene: FGF8 was added gene: FGF8 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS Mode of inheritance for gene: FGF8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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