Congenital myopathy

Gene: KLHL41

Green List (high evidence)

KLHL41 (kelch like family member 41)
EnsemblGeneIds (GRCh38): ENSG00000239474
EnsemblGeneIds (GRCh37): ENSG00000239474
OMIM: 607701, Gene2Phenotype
KLHL41 is in 5 panels

4 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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.

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

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

Anna Sarkozy (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nemaline myopathy 9, 615731 (3)

Publications

Helen Brittain (Genomics England Curator)

Green List (high evidence)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Nemaline myopathy 9, 615731
OMIM
607701
Clinvar variants
Variants in KLHL41
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Aug 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: KLHL41 were changed from Nemaline myopathy 9, 615731 (3) to Nemaline myopathy 9, 615731

30 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to KLHL41.

30 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to KLHL41. Rating Changed from Green List (high evidence) to Green List (high evidence)

22 Feb 2017, Gel status: 4

panel promoted to version 1

Helen Brittain (Genomics England Curator)

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.

3 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

3 Feb 2017, Gel status: 4

Set publications

Helen Brittain (Genomics England Curator)

Publications for KLHL41 were set to 24268659

3 Feb 2017, Gel status: 4

Set Mode of Inheritance

Helen Brittain (Genomics England Curator)

Mode of inheritance for KLHL41 was changed to BIALLELIC, autosomal or pseudoautosomal

3 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

13 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

KLHL41 was added to Congenital myopathypanel. Sources: Expert

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

KLHL41 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen