Mitochondrial disorders
Gene: MT-TL1EnsemblGeneIds (GRCh38): ENSG00000209082
EnsemblGeneIds (GRCh37): ENSG00000209082
OMIM: 590050, Gene2Phenotype
MT-TL1 is in 23 panels
3 reviews
Carl Fratter (Oxford University Hospitals NHS Trust)
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Two reviewers agree this should be promoted from amber.Created: 8 Feb 2016, 2:11 p.m.
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- UKGTN
- Tags
- OMIM
- 590050
- Clinvar variants
- Variants in MT-TL1
- Penetrance
- Complete
- Panels with this gene
-
- Sudden death in young people
- Monogenic hearing loss
- Likely inborn error of metabolism
- Paediatric pseudo-obstruction syndrome
- Paediatric or syndromic cardiomyopathy
- Retinal disorders
- Undiagnosed metabolic disorders
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary neuropathy or pain disorder
- Fetal hydrops
- Hypertrophic cardiomyopathy
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- Arthrogryposis
- Optic neuropathy
- Hereditary neuropathy
- Fetal anomalies
- Familial diabetes
- Congenital myopathy
- Multi-organ autoimmune diabetes
- Early onset or syndromic epilepsy
- DDG2P
- Mitochondrial disorders
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.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for MT-TL1 were set to
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene MT-TL1 was changed to MITOCHONDRIAL
Added New Source
Ellen McDonagh (Genomics England Curator)MT-TL1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: UKGTN,Emory Genetics Laboratory
Added New Source
Ellen McDonagh (Genomics England Curator)MT-TL1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: UKGTN,Emory Genetics Laboratory