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| Hereditary Neuropathy - complex v0.132 | MYH14 | Zornitza Stark Marked gene: MYH14 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.132 | MYH14 | Zornitza Stark Gene: myh14 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.132 | MYH14 | Zornitza Stark Phenotypes for gene: MYH14 were changed from ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369; HMSN to Peripheral neuropathy, myopathy, hoarseness, and hearing loss MIM#614369 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.131 | MYH14 | Zornitza Stark Publications for gene: MYH14 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.130 | MYH14 | Zornitza Stark reviewed gene: MYH14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peripheral neuropathy, myopathy, hoarseness, and hearing loss MIM#614369; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.130 | MYH14 |
Elena Savva edited their review of gene: MYH14: Added comment: PMID: 21480433 - 1 large Korean fam with peripheral neuropathy, myopathy, hoarseness, and hearing loss. Missense variant (p.R941L) found to segregate in all affecteds, but not all presented with hearing loss. PMID: 35274842 - same authors as PMID: 21480433, report a second Korean family with a similar presentation to the first and the missense p.R941L. - Reviews literature reporting an additional 2 families (American, Canadian) with this same p.R941L variant, who presented with distal HMN and hearing loss or CMT with hearing loss (PMID:31231018;27875632). These multigenerational families were Caucasian or not described, with no de novo evidence shown. Authors speculate recurrence due to the broad geographical location where families have been described. Single recurring missense appears to be responsible for this phenotype; Changed rating: GREEN; Changed publications: PMID: 21480433, 35274842, 31231018, 27875632 |
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| Hereditary Neuropathy - complex v0.130 | MYH14 | Elena Savva reviewed gene: MYH14: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 21480433, 35274842; Phenotypes: ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss MIM#614369; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.0 | MYH14 |
Bryony Thompson gene: MYH14 was added gene: MYH14 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: MYH14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYH14 were set to ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369; HMSN |
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