This Panel is marked as Internal
Intellectual disability update Jan 2018
Gene: MTMR14
MTMR14 (myotubularin related protein 14)
EnsemblGeneIds (GRCh38): ENSG00000163719
EnsemblGeneIds (GRCh37): ENSG00000163719
OMIM: 611089, Gene2Phenotype
MTMR14 is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000163719
EnsemblGeneIds (GRCh37): ENSG00000163719
OMIM: 611089, Gene2Phenotype
MTMR14 is in 3 panels
1 review
Louise Daugherty (Genomics England Curator)
Currently there is not enough evidence to support this gene being upgraded from the Red ratingCreated: 26 Feb 2018, 12:12 p.m.
Comment on phenotypes: To date there are only two unrelated cases caused by MTMR14. The phenotype observed includes more muscle weakness and Delayed motor development phenotypes than intellectual disability. This is a possible DD gene in Gene2Phenotype for Centronuclear myopathy, autosomal, modifier of. OMIM indicates that the mutations contribute to susceptibility to a multifactorial disorder.Created: 26 Feb 2018, 12:12 p.m.
Comment on publications: added PMID to support ID phenotype.Created: 26 Feb 2018, 12:05 p.m.
Comment on mode of inheritance: added MOI from OMIM and PMID:17008356Created: 26 Feb 2018, 12:03 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Gene2Phenotype
- Phenotypes
-
- {Centronuclear myopathy, autosomal, modifier of}, 160150
- Autosomal dominant centronuclear myopathy
- OMIM
- 611089
- Clinvar variants
- Variants in MTMR14
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
26 Feb 2018, Gel status: 1
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for MTMR14 were set to {Centronuclear myopathy, autosomal, modifier of}, 160150; Autosomal dominant centronuclear myopathy
26 Feb 2018, Gel status: 1
Set publications
Louise Daugherty (Genomics England Curator)Publications for MTMR14 were set to 17008356
26 Feb 2018, Gel status: 1
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for MTMR14 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Dec 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)MTMR14 was added to Intellectual disability update Jan 2018 panel. Sources: Gene2Phenotype
18 Dec 2017, Gel status: 1
Created
Ellen McDonagh (Genomics England Curator)MTMR14 was created by Ellen McDonagh