Hereditary neuropathy or pain disorder
Gene: MT-TL1EnsemblGeneIds (GRCh38): ENSG00000209082
EnsemblGeneIds (GRCh37): ENSG00000209082
OMIM: 590050, Gene2Phenotype
MT-TL1 is in 22 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - mitochondrial / Broader phenotype but mitochondrial gene (MELAS) - discussCreated: 6 Dec 2019, 9:06 p.m. | Last Modified: 6 Dec 2019, 9:06 p.m.
Panel Version: 0.80
Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) 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, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.Created: 6 Dec 2019, 9:05 p.m. | Last Modified: 6 Dec 2019, 9:05 p.m.
Panel Version: 0.80
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 Amber
- London North GLH
- NHS GMS
- 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
- Early onset or syndromic epilepsy
- DDG2P
- Optic neuropathy
- Fetal hydrops
- Familial diabetes
- Retinal disorders
- Likely inborn error of metabolism
- Multi-organ autoimmune diabetes
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Monogenic hearing loss
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Sudden death in young people
- Monogenic diabetes
- 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.
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: mt-tl1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: MT-TL1 was added gene: MT-TL1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL Phenotypes for gene: MT-TL1 were set to Myopathy, deafness, ophthalmoplegia, diabetes, stroke like episodes, predominantly sensory axonal neuropathy