Gastrointestinal neuromuscular disorders

Gene: MT-TK

Red List (low evidence)

MT-TK (mitochondrially encoded tRNA lysine)
EnsemblGeneIds (GRCh38): ENSG00000210156
EnsemblGeneIds (GRCh37): ENSG00000210156
OMIM: 590060, Gene2Phenotype
MT-TK is in 8 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Expert reviewed and curator-reviewed as red for this panel.
Created: 19 Oct 2016, 12:04 p.m.

Neil shah (GOSH)

Red List (low evidence)

Mode of inheritance
Unknown

Publications

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Reported in one case of mitochondrial a childhood mitochondrial disorder with only gastrointestinal symptoms during the first four years of life (PMID 9380435)
Created: 31 Aug 2016, 1:23 p.m.

Mode of inheritance
Unknown

Phenotypes
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME

Publications

Details

Mode of Inheritance
MITOCHONDRIAL
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME
OMIM
590060
Clinvar variants
Variants in MT-TK
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Oct 2016, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

26th October 2016: panel revised after expert review and further curation of the analysis, with then internal clinical review. Ready for promotion to version 1.

19 Oct 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

19 Oct 2016, Gel status: 0

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for MT-TK was changed to MITOCHONDRIAL

31 Aug 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

MT-TK was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: Literature

31 Aug 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

MT-TK was created by sleigh