Hypogonadotropic hypogonadism
Gene: KLBComment on list classification: Promoted from Red to Green based on expert review (Rachel Jones (GSTT))Created: 5 May 2020, 3:27 p.m. | Last Modified: 5 May 2020, 3:27 p.m.
Panel Version: 1.28
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 FGFR1Created: 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
Suggested by Dr Trevor Cole, Wessex & West Midlands Genomic Laboratory Hub.
Sources: Expert listCreated: 12 Feb 2019, 5:53 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Congenital hypogonadotropic hypogonadism
Publications
Gene: klb has been classified as Green List (High Evidence).
gene: KLB was added gene: KLB was added to Hypogonadotropic hypogonadism. Sources: Expert list Mode of inheritance for gene: KLB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KLB were set to 28754744 Phenotypes for gene: KLB were set to Congenital hypogonadotropic hypogonadism Review for gene: KLB was set to AMBER