1. Panels
  2. Congenital muscular dystrophy and congenital myopathy
  3. MYOT
STRs in panel
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Congenital muscular dystrophy and congenital myopathy

Gene: MYOT

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

2 reviews

Anna Sarkozy (Great Ormond Street Hospital)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Muscular dystrophy, limb-girdle, type 1A 159000; Myopathy, myofibrillar, 3 609200; Myopathy, spheroid body 182920

Publications

Created: 6 Mar 2017, 12:14 p.m.

Copied from panel: Congenital myopathy v3.76

Helen Brittain (Genomics England Curator)

Red List (low evidence)

Comment when marking as ready: Only adult phenotype identified from review
Created: 3 Feb 2017, 11:02 a.m.
Comment on list classification: Adult phenotype. Not in age range for this panel.
Created: 3 Feb 2017, 11:01 a.m.
All three associated phenotypes are associated with adult onset of symptoms, therefore not appropriate for congenital myopathy panel.
Created: 26 Jan 2017, 2:49 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Muscular dystrophy, limb-girdle, type 1A 159000; Myopathy, myofibrillar, 3 609200; Myopathy, spheroid body 182920

Publications

Created: 26 Jan 2017, 2:49 p.m.

Copied from panel: Congenital myopathy v3.76

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert Review Red
Phenotypes
  • Myopathy, myofibrillar, 3, OMIM:609200
  • Myopathy, spheroid body, OMIM:182920
OMIM
604103
Clinvar variants
Variants in MYOT
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Feb 2023, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: MYOT was added gene: MYOT was added to Congenital muscular dystrophy and congenital myopathy. Sources: Expert Review Red,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: MYOT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYOT were set to 15111675 Phenotypes for gene: MYOT were set to Myopathy, myofibrillar, 3, OMIM:609200; Myopathy, spheroid body, OMIM:182920 Penetrance for gene: MYOT were set to Complete