Diabetes with additional phenotypes suggestive of a monogenic aetiology
Gene: MT-TL1EnsemblGeneIds (GRCh38): ENSG00000209082
EnsemblGeneIds (GRCh37): ENSG00000209082
OMIM: 590050, Gene2Phenotype
MT-TL1 is in 23 panels
2 reviews
Sian Ellard (University of Exeter Medical School)
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from red to green due to expert review.Created: 22 Jul 2016, 12:13 p.m.
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- Expert Review Green
- Eligibility statement prior genetic testing
- UKGTN
- Phenotypes
-
- MELAS syndrome
- Diabetes-Deafness Syndrome, Maternally Transmitted
- DIABETES AND DEAFNESS, MATERNALLY INHERITED
- MIDD
- Tags
- OMIM
- 590050
- Clinvar variants
- Variants in MT-TL1
- Penetrance
- Complete
- Panels with this gene
-
- Paediatric pseudo-obstruction syndrome
- Undiagnosed metabolic disorders
- Early onset or syndromic epilepsy
- Fetal hydrops
- Fetal anomalies
- Hypertrophic cardiomyopathy
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- Congenital myopathy
- Arthrogryposis
- Optic neuropathy
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Monogenic hearing loss
- Hereditary neuropathy
- Familial diabetes
- Multi-organ autoimmune diabetes
- DDG2P
- Retinal disorders
- Mitochondrial disorders
- Paediatric or syndromic cardiomyopathy
- Sudden death in young people
- Hereditary neuropathy or pain 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.
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)25th July 2016: Panel revised acccording to expert review, further evidence sources and comparison with the Familial Diabetes version 1 panel. Promoted to version 1.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for MT-TL1 were set to MELAS syndrome; Diabetes-Deafness Syndrome, Maternally Transmitted; DIABETES AND DEAFNESS, MATERNALLY INHERITED; MIDD
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 Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Eligibility statement prior genetic testing
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene MT-TL1 was changed to MITOCHONDRIAL
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene MT-TL1 was changed to MITOCHONDRIAL
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 Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: UKGTN