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DDG2P

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 9 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease MERRF, OMIM:545000 is definitive. The allelic requirement and mutation consequence are mitochondrial and absent gene product.
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
MITOCHONDRIAL

Phenotypes
MERRF, OMIM:545000

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed.
Created: 19 Nov 2018, 11:30 a.m.

History Filter Activity

4 May 2022, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

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

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: MT-TP was added gene: MT-TP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene gene: MT-TP was set to MITOCHONDRIAL Phenotypes for gene: MT-TP were set to MERRF 545000