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  3. KLB
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Differences of Sex Development

Gene: KLB

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Seven heterozygous loss‐of‐function KLB mutations in 13 individuals reported. 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. Functional analysis showed decreased activity in response to FGF21 and FGF8. KLB is an obligate coreceptor for FGF21 alongside FGFR1.
Sources: Literature
Created: 7 May 2020, 10:13 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypogonadotropic hypogonadism

Publications

Created: 7 May 2020, 10:13 a.m.

Panel version: 0.27

Details

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

History Filter Activity

7 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

7 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

7 May 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KLB was added gene: KLB was added to Disorders of Sex Differentiation. Sources: Literature 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 Hypogonadotropic hypogonadism Review for gene: KLB was set to GREEN