Congenital muscular dystrophy and congenital myopathy
Gene: KLHL41EnsemblGeneIds (GRCh38): ENSG00000239474
EnsemblGeneIds (GRCh37): ENSG00000239474
OMIM: 607701, Gene2Phenotype
KLHL41 is in 3 panels
4 reviews
Louise Daugherty (Genomics England Curator)
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)
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)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nemaline myopathy 9, 615731 (3)
Publications
Helen Brittain (Genomics England Curator)
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
- PMID 24268659
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- London South GLH
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- NHS GMS
- Expert
- Phenotypes
-
- Nemaline myopathy 9, OMIM:615731
- OMIM
- 607701
- Clinvar variants
- Variants in KLHL41
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Arina Puzriakova (Genomics England Curator)gene: KLHL41 was added gene: KLHL41 was added to Congenital muscular dystrophy and congenital myopathy. Sources: Expert,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,London South GLH Mode of inheritance for gene: KLHL41 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KLHL41 were set to 24268659 Phenotypes for gene: KLHL41 were set to Nemaline myopathy 9, OMIM:615731 Penetrance for gene: KLHL41 were set to Complete