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Arthrogryposis

Gene: MTM1

Green List (high evidence)

MTM1 (myotubularin 1)
EnsemblGeneIds (GRCh38): ENSG00000171100
EnsemblGeneIds (GRCh37): ENSG00000171100
OMIM: 300415, Gene2Phenotype
MTM1 is in 9 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Comment on mode of inheritance: Rare manifesting females reported
Created: 22 Dec 2016, 9:38 a.m.
Congenital contractures including talipes seen in most severe form
Created: 22 Dec 2016, 9:37 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Myotubular myopathy, X-linked 310400

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert
  • UKGTN
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • X-linked myotubular myopathy
  • Myotubular myopathy, X-linked, 310400
OMIM
300415
Clinvar variants
Variants in MTM1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 4

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.

22 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

22 Dec 2016, Gel status: 3

Set publications

Alice Gardham (Genomics England)

Publications for MTM1 were set to 10790201; 20301605

22 Dec 2016, Gel status: 3

Set Mode of Inheritance

Alice Gardham (Genomics England)

Mode of inheritance for MTM1 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

21 Dec 2016, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

MTM1 was added to Arthrogryposispanel. Source: Emory Genetics Laboratory MTM1 was added to Arthrogryposispanel. Source: UKGTN MTM1 was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen MTM1 was added to Arthrogryposispanel. Source: Expert

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

MTM1 was added to Arthrogryposispanel. Sources: Expert list

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MTM1 was created by ellenmcdonagh