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DDG2P

Gene: MTMR14

Red List (low evidence)

MTMR14 (myotubularin related protein 14)
EnsemblGeneIds (GRCh38): ENSG00000163719
EnsemblGeneIds (GRCh37): ENSG00000163719
OMIM: 611089, Gene2Phenotype
MTMR14 is in 4 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

polygenic tag added: In DD-G2P download, digenic MOI listed for CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF 160150.
Created: 19 Nov 2018, 1:26 p.m.
Original DDG2P rating: possible. DDG2P mode of pathogenicity: all missense/in frame. digenic MOI listed in DD-G2P download.
Created: 19 Nov 2018, 11:30 a.m.

Details

Sources
Phenotypes
  • CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF 160150
Tags
polygenic
OMIM
611089
Clinvar variants
Variants in MTMR14
Penetrance
None
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: possibl

19 Nov 2018, Gel status: 1

Added Tag

Rebecca Foulger (Genomics England curator)

Tag polygenic tag was added to gene: MTMR14.

19 Nov 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: MTMR14 was added gene: MTMR14 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MTMR14 was set to Phenotypes for gene: MTMR14 were set to CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF 160150 Mode of pathogenicity for gene: MTMR14 was set to Other - please provide details in the comments