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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