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Intellectual disability

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 7 panels

4 reviews

Helen Brittain (Genomics England Curator)

Red List (low evidence)

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 present
Created: 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.

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_movement_disorder_list . Main mutation mechanism : NA
Created: 27 Jul 2017, 7:40 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : manju_list; neuro_20160418_strict; NA. This is a pertinent gene from the BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene comes from the SPEED_NEURO_v3.0_20170404 gene list. The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: - Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge - Manju Kurian, Paediatric neurologist, Great Ormond Street Hosptial - Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Created: 19 Jul 2017, 12:52 p.m.

Mode of inheritance
Unknown

Publications

  • Personal communication with NIHRBRRD BRIDGE SPEED

Louise Daugherty (Genomics England Curator)

Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to assess inclusion and pertinence to this panel.
Created: 20 Jul 2017, 12:50 p.m.

Details

Mode of Inheritance
MITOCHONDRIAL
Sources
  • Expert Review Red
  • Expert Review Amber
Phenotypes
  • MERRF syndrome 545000
  • MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME
OMIM
590060
Clinvar variants
Variants in MT-TK
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

12 Mar 2018, Gel status: 1

Added New Source, Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Red was added to MT-TK. Panel: Intellectual disability Model of inheritance for gene MT-TK was set to MITOCHONDRIAL Publications for gene MT-TK was set to ['8264702', '9380435']

20 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

19 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

MT-TK was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene

19 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

MT-TK was created by BRIDGE