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Gene: KLHL40

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

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

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. Most patients die in infancy. More than 40 unrelated families reported, zebrafish and mouse model. Founder variants: c.1582G>A in Japanese and c.1516A>C in Chinese.
Created: 8 Nov 2024, 11:27 a.m. | Last Modified: 8 Nov 2024, 11:27 a.m.

Panel Version: 1.546

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nemaline myopathy 8, autosomal recessive MIM#615348

Publications

Created: 8 Nov 2024, 11:27 a.m.
Last Modified: 8 Nov 2024, 11:27 a.m.
Panel version: 1.546

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Mackenzie's Mission

Phenotypes

Nemaline myopathy 8, autosomal recessive, 615348 (3)

OMIM

615340

Clinvar variants

Variants in KLHL40

Penetrance

None

Panels with this gene

History Filter Activity

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KLHL40 was added gene: KLHL40 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: KLHL40 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KLHL40 were set to Nemaline myopathy 8, autosomal recessive, 615348 (3)

Prepair 1000+ Gene: KLHL40