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Additional findings_Paediatric

Gene: MYOT

Red List (low evidence)

MYOT (myotilin)
EnsemblGeneIds (GRCh38): ENSG00000120729
EnsemblGeneIds (GRCh37): ENSG00000120729
OMIM: 604103, Gene2Phenotype
MYOT is in 4 panels

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Myofibrillar myopathy
OMIM
604103
Clinvar variants
Variants in MYOT
Penetrance
None
Panels with this gene

History Filter Activity

27 Aug 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MYOT was added gene: MYOT was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: MYOT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYOT were set to Myofibrillar myopathy