Arthrogryposis
Gene: KLHL41

KLHL41 (kelch like family member 41)
EnsemblGeneIds (GRCh38): ENSG00000239474
EnsemblGeneIds (GRCh37): ENSG00000239474
OMIM: 607701, Gene2Phenotype
KLHL41 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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, 2:26 a.m. | Last Modified: 16 Oct 2020, 2:26 a.m.

Panel Version: 0.222

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nemaline myopathy 9, MIM# 615731

Publications

Created: 16 Oct 2020, 2:26 a.m.
Last Modified: 16 Oct 2020, 2:26 a.m.
Panel version: 0.222

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Nemaline myopathy 9, MIM# 615731

OMIM

607701

Clinvar variants

Variants in KLHL41

Penetrance

None

Publications

Panels with this gene