Sudden death in young people
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
1 review
Ellen Thomas (Genomics England Curator)
Comment on list classification: Green in mitochondrial panel so will be applied in young cases.Created: 19 Dec 2016, 4:32 p.m.
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- Expert Review Removed
- Literature
- Other
- Phenotypes
-
- Sudden infant death syndrome, 272120
- SIDS
- SIDS
- Tags
- OMIM
- 590050
- Clinvar variants
- Variants in MT-TL1
- Penetrance
- Complete
- Panels with this gene
-
- Monogenic hearing loss
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Retinal disorders
- Optic neuropathy
- Fetal hydrops
- Arthrogryposis
- Mitochondrial disorders
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Monogenic diabetes
- Hereditary neuropathy or pain disorder
- Familial diabetes
- Multi-organ autoimmune diabetes
- Congenital myopathy
- Hypertrophic cardiomyopathy
- DDG2P
- Hereditary neuropathy
- Early onset or syndromic epilepsy
- Sudden death in young people
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.
19 Dec 2016, Gel status: 0
panel promoted to version 1
Ellen Thomas (Genomics England Curator)This panel contains genes which aren't arrhythmic or metabolic causes of sudden death with normal post mortem.
19 Dec 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been removed from the panel.
29 Nov 2016, Gel status: 0
Set Mode of Inheritance, Added New Source
Rebecca Foulger (Genomics England curator)MT-TL1 was added to Sudden death in young peoplepanel. Source: Literature Model of inheritance for gene MT-TL1 was changed to MITOCHONDRIAL
29 Nov 2016, Gel status: 0
Added New Source
Rebecca Foulger (Genomics England curator)MT-TL1 was added to Sudden death in young peoplepanel. Sources: Other
29 Nov 2016, Gel status: 0
Created
Rebecca Foulger (Genomics England curator)MT-TL1 was created by rfoulger