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Mackenzie's Mission_Reproductive Carrier Screening

Gene: KLHL41

Green List (high evidence)

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

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Nemaline myopathy 9, 615731 (3)
OMIM
607701
Clinvar variants
Variants in KLHL41
Penetrance
None
Panels with this gene

History Filter Activity

19 Apr 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KLHL41 was added gene: KLHL41 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: KLHL41 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KLHL41 were set to Nemaline myopathy 9, 615731 (3)