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Fetal anomalies

Gene: KLHL40

Green List (high evidence)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
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

13 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: klhl40 has been classified as Green List (High Evidence).

13 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KLHL40 were changed from NEMALINE MYOPATHY 8, AUTOSOMAL RECESSIVE to Nemaline myopathy 8, autosomal recessive, MIM# 615348

13 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KLHL40 were set to

24 Oct 2021, 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 Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp 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