Multi-organ autoimmune diabetes
Gene: MT-TL1
MT-TL1 (mitochondrially encoded tRNA leucine 1 (UUA/G))
EnsemblGeneIds (GRCh38): ENSG00000209082
EnsemblGeneIds (GRCh37): ENSG00000209082
OMIM: 590050, Gene2Phenotype
MT-TL1 is in 23 panels
EnsemblGeneIds (GRCh38): ENSG00000209082
EnsemblGeneIds (GRCh37): ENSG00000209082
OMIM: 590050, Gene2Phenotype
MT-TL1 is in 23 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Removed due to expert review.Created: 22 Jul 2016, 3:10 p.m.
Sian Ellard (University of Exeter Medical School)
Remove gene from panelCreated: 8 Dec 2015, 2:32 p.m.
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- Expert Review Removed
- UKGTN
- Phenotypes
-
- Monogenic Diabetes
- 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
- Hereditary neuropathy or pain disorder
- Optic neuropathy
- Dystonia, chorea or related movement disorder, childhood onset
- Monogenic hearing loss
- Hereditary neuropathy
- Familial diabetes
- Multi-organ autoimmune diabetes
- DDG2P
- Retinal disorders
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorders
- Sudden death in young people
- Likely inborn error of metabolism
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: MT-TL1.
25 Jul 2016, Gel status: 0
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.
22 Jul 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
22 Jul 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
17 Aug 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)MT-TL1 was added to Multi-organ autoimmune diabetespanel. Sources: UKGTN