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| Common deletion and duplication syndromes v0.92 | ISCA-37436-Loss | Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37436-Loss. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.89 | ISCA-37436-Loss | Zornitza Stark Marked Region: ISCA-37436-Loss as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.89 | ISCA-37436-Loss | Zornitza Stark Region: isca-37436-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.89 | ISCA-37436-Loss | Zornitza Stark Phenotypes for Region: ISCA-37436-Loss were changed from Hereditary neuropathy with liability to pressure palsies to Neuropathy, recurrent, with pressure palsies, MIM# 162500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.88 | ISCA-37436-Loss | Zornitza Stark Classified Region: ISCA-37436-Loss as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.88 | ISCA-37436-Loss | Zornitza Stark Region: isca-37436-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.87 | ISCA-37436-Loss | Zornitza Stark reviewed Region: ISCA-37436-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuropathy, recurrent, with pressure palsies, MIM# 162500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.75 | ISCA-37436-Loss |
Elena Savva Region: ISCA-37436-Loss was added Region: ISCA-37436-Loss was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-37436-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37436-Loss were set to PMID: 32356557; 31118906; 24726093 Phenotypes for Region: ISCA-37436-Loss were set to Hereditary neuropathy with liability to pressure palsies Review for Region: ISCA-37436-Loss was set to GREEN Added comment: Established CNV Deletion of PMP22 the main cause of disease, which may include psychiatric conditions Thickening of the myelin sheath, called “tomacula”, is considered the hallmark of the disease Sources: Expert list |
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