Muscular dystrophy and myopathy_Paediatric
Gene: KLHL40EnsemblGeneIds (GRCh38): ENSG00000157119
EnsemblGeneIds (GRCh37): ENSG00000157119
OMIM: 615340, Gene2Phenotype
KLHL40 is in 10 panels
2 reviews
Sangavi Sivagnanasundram (Melbourne Health)
PMID: 23746549
Multiple individuals from unrelated families identified with NEM (both severe and milder forms)
Study showed that KLHL40 mutations are more likely to cause severe NEM
Identified founder mutation, c.1582G>A, in Japanese population. Was also found in Kurdish and Turkish population.
Sources: OtherCreated: 8 May 2023, 7:01 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nemaline myopathy 8, autosomal recessive, MIM# 615348
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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, 2:04 a.m. | Last Modified: 16 Oct 2020, 2:04 a.m.
Panel Version: 0.277
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nemaline myopathy 8, autosomal recessive, MIM# 615348
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review Green
- Phenotypes
-
- Nemaline myopathy 8, autosomal recessive, MIM# 615348
- OMIM
- 615340
- Clinvar variants
- Variants in KLHL40
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: klhl40 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: klhl40 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: KLHL40 was added gene: KLHL40 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: KLHL40 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KLHL40 were set to 23746549 Phenotypes for gene: KLHL40 were set to Nemaline myopathy 8, autosomal recessive, MIM# 615348 Review for gene: KLHL40 was set to GREEN