Congenital myopathy

Gene: KLHL9

Red List (low evidence)

KLHL9 is not associated with any phenotype on OMIM or Gene2Phenotype. PMID: 20554658 reported on a large German family with a heterozygous variant in KLHL9. There is only one published case. Therefore, there is currently not enough evidence to support a gene-disease association. Until more evidence is available, KLHL9 should have a red gene status.

Created: 8 Aug 2019, 9:05 a.m. | Last Modified: 8 Aug 2019, 9:05 a.m.

Panel Version: 1.154

Green List (high evidence)

Large German family, with 10 affected family members

Created: 30 May 2019, 4:55 p.m.

Phenotypes
early onset distal myopathy

Publications

• 20554658

Variants in this GENE are reported as part of current diagnostic practice

I don't know

Note : The review uploaded on behalf of Rachael Mein (Viapath at Guy's Hospital) publication PMID: 23746549 is incorrect. The original file from London South GLH correctly associates PMID: 23746549 to the gene KLHL40, but for KLHL9 the publication field was blank (no data was supplied as evidence). The Green review rating for KLHL9 is the rating given by London South GLH. There is currently not enough evidence to support a Green rating. Rating to be discussed by the Neurology Test Group to confirm rating.

Created: 16 Oct 2019, 3:01 p.m. | Last Modified: 16 Oct 2019, 3:01 p.m.

Panel Version: 1.166

Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.

Created: 30 Apr 2019, 10:09 a.m.

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Nemaline myopathy

Publications

• 23746549

Variants in this GENE are reported as part of current diagnostic practice