This Panel is marked as Retired
Epileptic encephalopathy
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
4 reviews
Amy McTague (UCL Institute of Child Health)
Mode of inheritance
MITOCHONDRIAL
Natalie Trump (NHS - Great Ormond Street Hospital)
Mode of inheritance
MITOCHONDRIAL
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
MITOCHONDRIAL
Richard Scott (North Thames GMC/UCL)
Mode of inheritance
MITOCHONDRIAL
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- Expert Review Red
- UKGTN
- 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
13 Nov 2015, Gel status: 1
gel status update
GEL ()The Gel status was updated for this whole panel
13 Nov 2015, Gel status: 1
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)MT-TL1 was added to Epileptic encephalopathypanel. Source: Expert Review Red Model of inheritance for gene MT-TL1 was changed to MITOCHONDRIAL
13 Nov 2015, Gel status: 1
gel status update
GEL ()The Gel status was updated for this whole panel
1 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)MT-TL1 was added to Epileptic encephalopathypanel. Sources: UKGTN