This Panel is marked as Retired
Epilepsy Plus
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 22 panels
EnsemblGeneIds (GRCh38): ENSG00000209082
EnsemblGeneIds (GRCh37): ENSG00000209082
OMIM: 590050, Gene2Phenotype
MT-TL1 is in 22 panels
0 reviews
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- UKGTN
- Expert Review Red
- OMIM
- 590050
- Clinvar variants
- Variants in MT-TL1
- Penetrance
- Complete
- Panels with this gene
-
- Likely inborn error of metabolism
- Monogenic hearing loss
- Monogenic diabetes
- Undiagnosed metabolic disorders
- Optic neuropathy
- Fetal hydrops
- Arthrogryposis
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Retinal disorders
- Paediatric or syndromic cardiomyopathy
- Hereditary neuropathy or pain disorder
- Familial diabetes
- Multi-organ autoimmune diabetes
- Early onset or syndromic epilepsy
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Fetal anomalies
- DDG2P
- Hereditary neuropathy
- Sudden death in young people
History Filter Activity
8 Sep 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)MT-TL1 was created by ellenmcdonagh
8 Sep 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)MT-TL1 was added to Epilepsy Pluspanel. Sources: UKGTN,Expert Review Red