Cerebral Palsy
Gene: MT-TL1EnsemblGeneIds (GRCh38): ENSG00000209082
EnsemblGeneIds (GRCh37): ENSG00000209082
OMIM: 590050, Gene2Phenotype
MT-TL1 is in 2 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Comment when marking as ready: Note only detectable by appropriate assays (WGS, mtDNA sequencing).Created: 21 Jul 2023, 8:25 a.m. | Last Modified: 21 Jul 2023, 8:25 a.m.
Panel Version: 1.116
Luisa Weiss (University of Adelaide)
Three individual cases in three different large CP cohort publications. In one case, heteroplasmy was 8% in another it was 58% with a low level detectable also in the mother. The third does not state the heteroplasmy level. Note very high intra- and interfamilial variability, partly due to heteroplasmy level in different tissues.
Sources: LiteratureCreated: 27 Jun 2023, 1:02 a.m.
Mode of inheritance
MITOCHONDRIAL
Phenotypes
MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS MERRF MIM#545000; CYCLIC VOMITING SYNDROME WITH NEUROMUSCULAR DISEASE, INCLUDED CYCLIC VOMITING SYNDROME-PLUS, INCLUDED CVS-PLUS, INCLUDED MIM#500007; MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES MELAS MIM#540000; DIABETES AND DEAFNESS, MATERNALLY INHERITED MIDD MIM#520000
Publications
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- Expert Review Green
- Phenotypes
-
- MELAS MIM#540000
- Tags
- OMIM
- 590050
- Clinvar variants
- Variants in MT-TL1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mt-tl1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mt-tl1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MT-TL1 were changed from MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS MERRF MIM#545000; CYCLIC VOMITING SYNDROME WITH NEUROMUSCULAR DISEASE, INCLUDED CYCLIC VOMITING SYNDROME-PLUS, INCLUDED CVS-PLUS, INCLUDED MIM#500007; MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES MELAS MIM#540000; DIABETES AND DEAFNESS, MATERNALLY INHERITED MIDD MIM#520000 to MELAS MIM#540000
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag mtDNA tag was added to gene: MT-TL1.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mt-tl1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mt-tl1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mt-tl1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Luisa Weiss (University of Adelaide)gene: MT-TL1 was added gene: MT-TL1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL Publications for gene: MT-TL1 were set to 34531397; 34077496; 25280894 Phenotypes for gene: MT-TL1 were set to MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS MERRF MIM#545000; CYCLIC VOMITING SYNDROME WITH NEUROMUSCULAR DISEASE, INCLUDED CYCLIC VOMITING SYNDROME-PLUS, INCLUDED CVS-PLUS, INCLUDED MIM#500007; MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES MELAS MIM#540000; DIABETES AND DEAFNESS, MATERNALLY INHERITED MIDD MIM#520000 Review for gene: MT-TL1 was set to GREEN