Arthrogryposis
Gene: KLHL40

KLHL40 (kelch like family member 40)
EnsemblGeneIds (GRCh38): ENSG00000157119
EnsemblGeneIds (GRCh37): ENSG00000157119
OMIM: 615340, Gene2Phenotype
KLHL40 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Nemaline myopathy-8 is a severe autosomal recessive muscle disorder characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth. Skeletal muscle biopsy shows numerous small nemaline bodies, often with no normal myofibrils. More than 40 unrelated families reported, zebrafish and mouse model. Founder variants: c.1582G>A in Japanese and c.1516A>C in Chinese.
Created: 16 Oct 2020, 2:06 a.m. | Last Modified: 16 Oct 2020, 2:06 a.m.

Panel Version: 0.219

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nemaline myopathy 8, autosomal recessive, MIM# 615348

Publications

Created: 16 Oct 2020, 2:06 a.m.
Last Modified: 16 Oct 2020, 2:06 a.m.
Panel version: 0.219

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Nemaline myopathy 8, autosomal recessive, MIM# 615348

Tags

founder

OMIM

615340

Clinvar variants

Variants in KLHL40

Penetrance

None

Publications

Panels with this gene