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Genetic epilepsy syndromes

Gene: MT-TL1

Red List (low evidence)

MT-TL1 (mitochondrially encoded tRNA leucine 1 (UUA/G))
EnsemblGeneIds (GRCh38): ENSG00000209082
EnsemblGeneIds (GRCh37): ENSG00000209082
OMIM: 590050, Gene2Phenotype
MT-TL1 is in 19 panels

6 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Red.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

? Better pathway for analysis - mito. Mitochondrial gene - 3243A>G variant associated with MELAS syndrome.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
MITOCHONDRIAL

Phenotypes
Myoclonic epilepsy with ragged-red fibers (MERRF)

Publications

Amy McTague (UCL Institute of Child Health)

Red List (low evidence)

Mode of inheritance
MITOCHONDRIAL

Natalie Trump (NHS - Great Ormond Street Hospital)

Red List (low evidence)

Mode of inheritance
MITOCHONDRIAL

Manju Kurian (UCL-Institute of Child Health)

Red List (low evidence)

Mode of inheritance
MITOCHONDRIAL

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

Mode of inheritance
MITOCHONDRIAL

History Filter Activity

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to MT-TL1.

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to MT-TL1.

11 Dec 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Comment when marking as ready:

4 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

MT-TL1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,UKGTN

4 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

MT-TL1 was created by Sarah Leigh