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Mendeliome

Gene: KLHL9

Amber List (moderate evidence)

KLHL9 (kelch like family member 9)
EnsemblGeneIds (GRCh38): ENSG00000198642
EnsemblGeneIds (GRCh37): ENSG00000198642
OMIM: 611201, Gene2Phenotype
KLHL9 is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

A single German family reported in 2010, segregating a missense variant c.796T>C p.Leu95Phe. In vitro functional assays demonstrated the variant diminishes the binding of KLHL9 to Cul3.
Ankle flexion contracture is reported in a mouse model, but there are other significant features present in the homozygous animals too - https://www.mousephenotype.org/data/genes/MGI:2180122
Sources: Literature
Created: 7 Jun 2023, 5:29 a.m. | Last Modified: 7 Jun 2023, 5:33 a.m.
Panel Version: 1.938

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
distal myopathy MONDO:0018949

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • distal myopathy MONDO:0018949
OMIM
611201
Clinvar variants
Variants in KLHL9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Jun 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: klhl9 has been classified as Amber List (Moderate Evidence).

7 Jun 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: klhl9 has been classified as Amber List (Moderate Evidence).

7 Jun 2023, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: KLHL9 was added gene: KLHL9 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: KLHL9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KLHL9 were set to 20554658 Phenotypes for gene: KLHL9 were set to distal myopathy MONDO:0018949 Review for gene: KLHL9 was set to AMBER