Gastrointestinal neuromuscular disorders
Gene: MT-TK
MT-TK (mitochondrially encoded tRNA lysine)
EnsemblGeneIds (GRCh38): ENSG00000210156
EnsemblGeneIds (GRCh37): ENSG00000210156
OMIM: 590060, Gene2Phenotype
MT-TK is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000210156
EnsemblGeneIds (GRCh37): ENSG00000210156
OMIM: 590060, Gene2Phenotype
MT-TK is in 11 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.
Sarah Leigh (Genomics England Curator)
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
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Multiple lipomas
- Mitochondrial disorders
- Congenital myopathy
- Gastrointestinal neuromuscular disorders
- Optic neuropathy
- Monogenic hearing loss
- Early onset or syndromic epilepsy
- Undiagnosed metabolic disorders
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