Muscular dystrophy and myopathy_Paediatric
Gene: KLHL41EnsemblGeneIds (GRCh38): ENSG00000239474
EnsemblGeneIds (GRCh37): ENSG00000239474
OMIM: 607701, Gene2Phenotype
KLHL41 is in 8 panels
2 reviews
Sangavi Sivagnanasundram (Melbourne Health)
Age of onset is not definitive - condition has high phenotypic variability
PMID: 24268659
Zebrafish functional study model showed the loss of function of KLHL41 resulting in highly diminished motor function.
5 unrelated children with nemaline myopathy 9. Muscle biopsies in individuals showed the presence of sarcoplamisc rods in myofibers.
Sources: OtherCreated: 8 May 2023, 11:19 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nemaline Myopathy 9 (MIM#615731; MONDO:0014326)
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Nemaline myopathy-9 is an autosomal recessive muscle disorder characterized by onset of muscle weakness in early infancy. The phenotype is highly variable, ranging from death in infancy due to lack of antigravity movements, to slowly progressive distal muscle weakness with preserved ambulation later in childhood. Muscle biopsy shows typical rod-like structure in myofibers.
Six unrelated families and functional data including zebrafish model.Created: 16 Oct 2020, 2:22 a.m. | Last Modified: 16 Oct 2020, 2:22 a.m.
Panel Version: 0.279
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nemaline myopathy 9, MIM# 615731
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review Green
- Phenotypes
-
- Nemaline Myopathy 9 (MIM#615731
- MONDO:0014326)
- OMIM
- 607701
- Clinvar variants
- Variants in KLHL41
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: klhl41 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: klhl41 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: KLHL41 was added gene: KLHL41 was added to Muscular dystrophy_Paediatric. Sources: Other 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 (MIM#615731; MONDO:0014326) Review for gene: KLHL41 was set to GREEN