Congenital myopathy
Gene: KLHL9
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
Large German family, with 10 affected family membersCreated: 30 May 2019, 4:55 p.m.
Phenotypes
early onset distal myopathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
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.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Nemaline myopathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: KLHL9 were changed from Early onset distal myopathy to Early onset distal myopathy; Nemaline myopathy
Phenotypes for gene: KLHL9 were changed from Nemaline myopathy; early onset distal myopathy to Early onset distal myopathy
Phenotypes for gene: KLHL9 were changed from Nemaline myopathy to Nemaline myopathy; early onset distal myopathy
Publications for gene: KLHL9 were set to 23746549
Phenotypes for gene: KLHL9 were changed from Nemaline myopathy 8, autosomal recessive, 615348 to Nemaline myopathy
Phenotypes for gene: KLHL9 were changed from to Nemaline myopathy 8, autosomal recessive, 615348
Publications for gene: KLHL9 were set to
Mode of inheritance for gene: KLHL9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Source NHS GMS was added to KLHL9.
gene: KLHL9 was added gene: KLHL9 was added to Congenital myopathy. Sources: London South GLH Mode of inheritance for gene: KLHL9 was set to