Common deletion and duplication syndromes
Region: ISCA-37436-LossHereditary neuropathy with liability to pressure palsies
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neuropathy, recurrent, with pressure palsies, MIM# 162500
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 listCreated: 1 Dec 2020, 9:29 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hereditary neuropathy with liability to pressure palsies
Publications
Tag SV/CNV tag was added to Region: ISCA-37436-Loss.
Region: isca-37436-loss has been classified as Green List (High Evidence).
Phenotypes for Region: ISCA-37436-Loss were changed from Hereditary neuropathy with liability to pressure palsies to Neuropathy, recurrent, with pressure palsies, MIM# 162500
Region: isca-37436-loss has been classified as Green List (High Evidence).
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