Hereditary neuropathy
Gene: MT-TL1EnsemblGeneIds (GRCh38): ENSG00000209082
EnsemblGeneIds (GRCh37): ENSG00000209082
OMIM: 590050, Gene2Phenotype
MT-TL1 is in 22 panels
2 reviews
Louise Daugherty (Genomics England Curator)
The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.Created: 7 Dec 2019, 6:08 p.m. | Last Modified: 7 Dec 2019, 6:08 p.m.
Panel Version: 1.352
Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.Created: 11 Jun 2019, 1:40 p.m.
Alexander Rossor (UCL Institute of Neurology)
Mode of inheritance
MITOCHONDRIAL
Phenotypes
Myopathy, deafness, ophthalmoplegia, diabetes, stroke like episodes, predominantly sensory axonal neuropathy
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- Expert Review Green
- NHS GMS
- London North GLH
- Phenotypes
-
- Myopathy, deafness, ophthalmoplegia, diabetes, stroke like episodes, predominantly sensory axonal neuropathy
- Tags
- OMIM
- 590050
- Clinvar variants
- Variants in MT-TL1
- Penetrance
- None
- Panels with this gene
-
- Hereditary neuropathy
- Mitochondrial disorders
- Retinal disorders
- DDG2P
- Optic neuropathy
- Fetal hydrops
- Familial diabetes
- Likely inborn error of metabolism
- Hereditary neuropathy or pain disorder
- Multi-organ autoimmune diabetes
- Monogenic diabetes
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Monogenic hearing loss
- Early onset or syndromic epilepsy
- Fetal anomalies
- Undiagnosed metabolic disorders
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Sudden death in young people
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Added Tag
Sarah Leigh (Genomics England Curator)Tag locus-type-rna-transfer tag was added to gene: MT-TL1.
Added Tag
Arina Puzriakova (Genomics England Curator)Tag gene-checked tag was added to gene: MT-TL1.
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to MT-TL1. Rating Changed from Red List (low evidence) to Green List (high evidence)
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: MT-TL1 were changed from to Myopathy, deafness, ophthalmoplegia, diabetes, stroke like episodes, predominantly sensory axonal neuropathy
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to MT-TL1.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: MT-TL1 was added gene: MT-TL1 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL