Congenital myopathy
Gene: KLHL41
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 9, 615731 (3)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nemaline myopathy 9, 615731 (3)
Publications
Comment when marking as ready: 5 unrelated families with nemaline myopathy reported. Frameshift associated with severe presentation (fetal akinesia spectrum) and missense with later onset of myopathic symptoms. Spans congenital onset therefore considered green.Created: 3 Feb 2017, 12:08 p.m.
Comment on list classification: 5 unrelated families with nemaline myopathy reported. Frameshift associated with severe presentation (fetal akinesia spectrum) and missense with later onset of myopathic symptoms. Spans congenital onset therefore considered green.Created: 3 Feb 2017, 12:08 p.m.
5 unrelated families with nemaline myopathy reported. Frameshift associated with severe presentation (fetal akinesia spectrum) and missense with later onset of myopathic symptoms. Spans congenital onset therefore considered green.Created: 31 Jan 2017, 9:54 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nemaline myopathy 9 615731
Publications
Phenotypes for gene: KLHL41 were changed from Nemaline myopathy 9, 615731 to Nemaline myopathy 9, OMIM:615731
Phenotypes for gene: KLHL41 were changed from Nemaline myopathy 9, 615731 (3) to Nemaline myopathy 9, 615731
Source NHS GMS was added to KLHL41.
Source London South GLH was added to KLHL41. 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).
Publications for KLHL41 were set to 24268659
Mode of inheritance for KLHL41 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
KLHL41 was added to Congenital myopathypanel. Sources: Expert
KLHL41 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen