Muscular dystrophy and myopathy_Paediatric
Gene: MTMR14EnsemblGeneIds (GRCh38): ENSG00000163719
EnsemblGeneIds (GRCh37): ENSG00000163719
OMIM: 611089, Gene2Phenotype
MTMR14 is in 2 panels
2 reviews
Sangavi Sivagnanasundram (Melbourne Health)
Functional assays show the effect of the protein on the gene function that related to the phenotypes expected, however the gene has only been reported and confirmed to cause myopathy in one case.
PMID: 20400459; 20817957; 19465920
Mouse and Zebrafish models show the effect of loss of function of MTMR14 protein due to mutations in MTMR14 which resulted in phenotypic features of myopathy
PMID: 17008356
Reported in two families with myopathy however the second individual had an alternate diagnosis.
Sources: OtherCreated: 9 May 2023, 12:18 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
{Centronuclear myopathy, autosomal, modifier of} (MIM#160150)
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Two mouse and one zebrafish model; however, only two families reported, and an alternative diagnosis was present in one.
Sources: Expert listCreated: 3 Jun 2020, 8:20 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
{Centronuclear myopathy, autosomal, modifier of}, MIM# 160150
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Expert Review Amber
- Expert list
- Phenotypes
-
- {Centronuclear myopathy, autosomal, modifier of} (MIM#160150)
- OMIM
- 611089
- Clinvar variants
- Variants in MTMR14
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: mtmr14 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: mtmr14 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: MTMR14 was added gene: MTMR14 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: MTMR14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MTMR14 were set to 20400459; 20817957; 19465920; 17008356 Phenotypes for gene: MTMR14 were set to {Centronuclear myopathy, autosomal, modifier of} (MIM#160150) Review for gene: MTMR14 was set to AMBER