Congenital myopathy
Gene: KLHL40
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nemaline myopathy 8, autosomal recessive, 615348
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nemaline myopathy 8, autosomal recessive, 615348
Publications
Comment when marking as ready: Severe presentations described to date including fetal akinesia / contracture spectrum (on arthrogryposis panel). Mainly missense and relatively large proportion of Japanese families. Although more likely to present as arthrogryposis I could envisage an overlapping phenotype with congenital myopathy, therefore considered green.Created: 3 Feb 2017, 12:07 p.m.
Comment on list classification: Severe presentations described to date including fetal akinesia / contracture spectrum (on arthrogryposis panel). Mainly missense and relatively large proportion of Japanese families. Although more likely to present as arthrogryposis I could envisage an overlapping phenotype with congenital myopathy, therefore considered green.Created: 3 Feb 2017, 12:06 p.m.
Comment when marking as ready: Severe presentations described to date including fetal akinesia / contracture spectrum (on arthrogryposis panel). Mainly missense and relatively large proportion of Japanese families. Although more likely to present as arthrogryposis overlapping phenotype would be congenital myopathy, therefore considered green.Created: 3 Feb 2017, 12:06 p.m.
Severe presentations described to date including fetal akinesia / contracture spectrum (on arthrogryposis panel). Mainly missense and relatively large proportion of Japanese families. Although more likely to present as arthrogryposis I could envisage an overlapping phenotype with congenital myopathy, therefore considered green.Created: 31 Jan 2017, 9:49 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nemaline myopathy 8, autosomal recessive 615348
Publications
Publications for gene: KLHL40 were set to 23746549
Phenotypes for gene: KLHL40 were changed from Nemaline myopathy 8, autosomal recessive, 615348 to Nemaline myopathy 8, autosomal recessive, OMIM:615348
Source NHS GMS was added to KLHL40.
Source London South GLH was added to KLHL40. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
Publications for KLHL40 were set to 23746549
Mode of inheritance for KLHL40 was changed to BIALLELIC, autosomal or pseudoautosomal
KLHL40 was added to Congenital myopathypanel. Sources: Expert
KLHL40 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen