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  3. KLB
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Hypogonadotropic hypogonadism

Gene: KLB

Green List (high evidence)
KLB (klotho beta)
EnsemblGeneIds (GRCh38): ENSG00000134962
EnsemblGeneIds (GRCh37): ENSG00000134962
OMIM: 611135, Gene2Phenotype
KLB is in 2 panels

3 reviews

Ivone Leong (Genomics England Curator)

Comment 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
Created: 5 May 2020, 3:27 p.m.
Last Modified: 5 May 2020, 3:27 p.m.
Panel version: 1.28

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

Created: 10 Mar 2020, 10:55 a.m.
Last Modified: 10 Mar 2020, 10:55 a.m.
Panel version: 1.27

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

I don't know

Suggested by Dr Trevor Cole, Wessex & West Midlands Genomic Laboratory Hub.
Sources: Expert list
Created: 12 Feb 2019, 5:53 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital hypogonadotropic hypogonadism

Publications

Created: 12 Feb 2019, 5:53 p.m.

Panel version: 1.24

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Congenital hypogonadotropic hypogonadism
OMIM
611135
Clinvar variants
Variants in KLB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 May 2020, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: klb has been classified as Green List (High Evidence).

12 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

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