Genes in panel
STRs in panel
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Inborn errors of metabolism

Gene: MT-TL2

Green List (high evidence)

MT-TL2 (mitochondrially encoded tRNA leucine 2 (CUN))
EnsemblGeneIds (GRCh38): ENSG00000210191
EnsemblGeneIds (GRCh37): ENSG00000210191
OMIM: 590055, Gene2Phenotype
MT-TL2 is in 4 panels

3 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

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: Both reviewers agree this gene should be promoted from red to green.
Created: 12 Feb 2016, 11:09 a.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
MITOCHONDRIAL
Sources
  • Expert Review Green
OMIM
590055
Clinvar variants
Variants in MT-TL2
Penetrance
None
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: MT-TL2 was added gene: MT-TL2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-TL2 was set to MITOCHONDRIAL