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  2. Arthrogryposis
  3. MYOT
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Arthrogryposis

Gene: MYOT

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

1 review

Alice Gardham (Genomics England)

Comment on list classification: No association with arthrogryposis
Created: 4 Jan 2017, 9:50 a.m.
Created: 4 Jan 2017, 9:50 a.m.

Panel version: 1.117

Details

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

History Filter Activity

4 Mar 2023, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: MYOT were changed from Spheroid Body Myopathy; Muscular dystrophy, limb-girdle, type 1A, 159000 to Myopathy, myofibrillar, 3, OMIM:609200; Myopathy, spheroid body, OMIM:182920

16 Jan 2017, Gel status: 1

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

4 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

4 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

21 Dec 2016, Gel status: 2

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

MYOT was added to Arthrogryposispanel. Source: Illumina TruGenome Clinical Sequencing Services MYOT was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen Model of inheritance for gene MYOT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

MYOT was added to Arthrogryposispanel. Sources: Expert list

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MYOT was created by ellenmcdonagh