Intellectual disability update Jan 2018
Gene: MT-TKEnsemblGeneIds (GRCh38): ENSG00000210156
EnsemblGeneIds (GRCh37): ENSG00000210156
OMIM: 590060, Gene2Phenotype
MT-TK is in 11 panels
2 reviews
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Phenotype and age of onset not clearly a good fit for this panel.Created: 5 Mar 2018, 2:06 p.m.
Comment on list classification: Limited clinical overlap with the ID panel and therefore questionable clinical utility on the current evidence.Created: 5 Mar 2018, 2:05 p.m.
All cases to date have presented with other features (suggestive of mitochondrial disease) rather than primary ID. I acknowledge the developmental regression associated with seizures in the MNGIE case. The MERRF phenotype is not typically an appropriate age of onset or clear phenotypic overlap for the ID panel and therefore on the current evidence, I would not include this gene.Created: 5 Mar 2018, 2:02 p.m.
Sarah Leigh (Genomics England Curator)
Comment on phenotypes: MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME does not have a MIM number at presentCreated: 28 Feb 2018, 12:09 p.m.
Associated with phenotype in OMIM, not in G2P. At least 2 variants reported to be associated with mental impairment. PMID 8264702 reports mental retardation in 4/6 members of a family with MERRF syndrome (MIM 545000) and PMID 9380435 reports mental regression in a child with mitochondrial neurogastrointestinal encephalomyopathy syndrome
Created: 28 Feb 2018, 11:18 a.m.
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
- Phenotypes
-
- MERRF syndrome 545000
- MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME
- OMIM
- 590060
- Clinvar variants
- Variants in MT-TK
- Penetrance
- None
- Publications
- Panels with this gene
-
- Monogenic hearing loss
- Multiple lipomas
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Congenital myopathy
- Undiagnosed metabolic disorders
- Gastrointestinal neuromuscular disorders
- Optic neuropathy
- Early onset or syndromic epilepsy
- Mitochondrial disorders
History Filter Activity
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for MT-TK were set to MERRF syndrome 545000; MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for MT-TK were set to MERRF syndrome 545000; MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME
Set publications
Sarah Leigh (Genomics England Curator)Publications for MT-TK were set to 8264702; 9380435
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for MT-TK was changed from to MITOCHONDRIAL
Added New Source
Ellen McDonagh (Genomics England Curator)MT-TK was added to Intellectual disability update Jan 2018 panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Amber
Created
Ellen McDonagh (Genomics England Curator)MT-TK was created by Ellen McDonagh