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  2. Mitochondrial disease
  3. MT-TP
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Mitochondrial disease

Gene: MT-TP

Green List (high evidence)
MT-TP (mitochondrially encoded tRNA proline)
EnsemblGeneIds (GRCh38): ENSG00000210196
EnsemblGeneIds (GRCh37): ENSG00000210196
OMIM: 590075, Gene2Phenotype
MT-TP is in 2 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: This is a mitochondrial gene, which is on the Mitochondrial disease gene panel.
Created: 26 Jun 2020, 1:06 a.m. | Last Modified: 26 Jun 2020, 1:06 a.m.
Panel Version: 0.3164
Created: 26 Jun 2020, 1:06 a.m.
Last Modified: 26 Jun 2020, 1:06 a.m.
Panel version: Imported from Mendeliome panel version 0.3164

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Sources: Expert list
Created: 19 Apr 2020, 4:03 a.m.

Mode of inheritance
MITOCHONDRIAL

Phenotypes
MERRF; myopathy

Created: 19 Apr 2020, 4:03 a.m.

Panel version: 0.414

Details

Mode of Inheritance
MITOCHONDRIAL
Sources
  • Expert Review Red
  • Expert Review Green
  • Expert list
Phenotypes
  • MERRF
  • myopathy
Tags
mtDNA
OMIM
590075
Clinvar variants
Variants in MT-TP
Penetrance
None
Panels with this gene

History Filter Activity

19 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mt-tp has been classified as Green List (High Evidence).

19 Apr 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag mtDNA tag was added to gene: MT-TP.

19 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mt-tp 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-TP was added gene: MT-TP was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene gene: MT-TP was set to MITOCHONDRIAL Phenotypes for gene: MT-TP were set to MERRF; myopathy Review for gene: MT-TP was set to GREEN