Activity
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| Muscular dystrophy and myopathy_Paediatric v0.161 | MTMR14 | Bryony Thompson Marked gene: MTMR14 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.161 | MTMR14 | Bryony Thompson Gene: mtmr14 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.161 | MTMR14 | Bryony Thompson Classified gene: MTMR14 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.161 | MTMR14 | Bryony Thompson Gene: mtmr14 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.128 | MTMR14 |
Sangavi Sivagnanasundram 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 Added comment: 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: Other |
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