Mitochondrial disease
Gene: MT-TH
MT-TH (mitochondrially encoded tRNA histidine)
EnsemblGeneIds (GRCh38): ENSG00000210176
EnsemblGeneIds (GRCh37): ENSG00000210176
OMIM: 590040, Gene2Phenotype
MT-TH is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000210176
EnsemblGeneIds (GRCh37): ENSG00000210176
OMIM: 590040, Gene2Phenotype
MT-TH is in 1 panel
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Sources: Expert listCreated: 19 Apr 2020, 3:37 a.m.
Mode of inheritance
MITOCHONDRIAL
Phenotypes
Dilated cardiomyopathy; Retinopathy; Deafness; MELAS; MERFF
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Dilated cardiomyopathy
- Retinopathy
- Deafness
- MELAS
- MERFF
- Tags
- OMIM
- 590040
- Clinvar variants
- Variants in MT-TH
- Penetrance
- None
- Panels with this gene
History Filter Activity
19 Apr 2020, Gel status: 3
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag mtDNA tag was added to gene: MT-TH.
19 Apr 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mt-th has been classified as Green List (High Evidence).
19 Apr 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mt-th has been classified as Green List (High Evidence).
19 Apr 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MT-TH was added gene: MT-TH was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene gene: MT-TH was set to MITOCHONDRIAL Phenotypes for gene: MT-TH were set to Dilated cardiomyopathy; Retinopathy; Deafness; MELAS; MERFF Review for gene: MT-TH was set to GREEN