Genes in panel
STRs in panel
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Inborn errors of metabolism

Gene: MT-TT

Amber List (moderate evidence)

MT-TT (mitochondrially encoded tRNA threonine)
EnsemblGeneIds (GRCh38): ENSG00000210195
EnsemblGeneIds (GRCh37): ENSG00000210195
OMIM: 590090, Gene2Phenotype
MT-TT is in 3 panels

3 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

I don't know

Mode of inheritance
MITOCHONDRIAL

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Comment on list classification: From red to Amber...one reviewer is unsure though has checked current diagnostic. Variants of unknown significance reported in OMIM.
Created: 12 Feb 2016, 11:18 a.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
MITOCHONDRIAL
Sources
  • Expert Review Amber
OMIM
590090
Clinvar variants
Variants in MT-TT
Penetrance
None
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: MT-TT was added gene: MT-TT was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene gene: MT-TT was set to MITOCHONDRIAL