This Panel is marked as Internal
Lactic acidosis
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
2 reviews
Louise Daugherty (Genomics England Curator)
added new-gene-name tagCreated: 9 Dec 2016, 4:10 p.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Expert review recommended that the mitochondrial panel be applied.Created: 8 Feb 2016, 9:40 a.m.
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- Expert Review Removed
- Emory Genetics Laboratory
- UKGTN
- OMIM
- 590050
- Clinvar variants
- Variants in MT-TL1
- Penetrance
- Complete
- Panels with this gene
-
- Hereditary neuropathy
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- DDG2P
- Optic neuropathy
- Fetal hydrops
- Familial diabetes
- Retinal disorders
- Likely inborn error of metabolism
- Multi-organ autoimmune diabetes
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Monogenic hearing loss
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Sudden death in young people
- Monogenic diabetes
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
7 Nov 2017, Gel status: 0
Changed Gene Name
Louise Daugherty (Genomics England Curator)MTTL1 was changed to MT-TL1
7 Nov 2017, Gel status: 0
Set mode of inheritance, Removed Tag
Louise Daugherty (Genomics England Curator)Model of inheritance for gene MTTL1 was set to MITOCHONDRIAL new-gene-name was removed from MTTL1. Panel: Lactic acidosis
8 Feb 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
27 Jul 2015, Gel status: 2
Changed Gene Name
Eik Haraldsdottir (Genomics England)MT-TL1 was changed to MTTL1
26 May 2015, Gel status: 2
Added New Source
Eik Haraldsdottir (Genomics England)MT-TL1 was added to Lactic acidosispanel. Sources: Emory Genetics Laboratory
11 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)MT-TL1 was added to Lactic acidosispanel. Sources: UKGTN