Common deletion and duplication syndromes
Region: ISCA-37436-LossHereditary neuropathy with liability to pressure palsies
GRCh38 Position: 14194598-15567587
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 80%
Variant types: CNV Loss
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neuropathy, recurrent, with pressure palsies, MIM# 162500
Elena Savva (Victorian Clinical Genetics Services)
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
Details
- ISCA ID
- ISCA-37436-Loss
- ISCA Region Name
- Hereditary neuropathy with liability to pressure palsies
- Chromosome
- 17
- GRCh38 Coordinates
- 14194598-15567587
- Haploinsufficiency Score
- Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
- Triplosensitivity Score
- Required percent of overlap
- 80%
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Neuropathy, recurrent, with pressure palsies, MIM# 162500
- Tags
- Clinvar variants
- Variants in
- Penetrance
- None
- Variant types
- CNV Loss
- Publications
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag SV/CNV tag was added to Region: ISCA-37436-Loss.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: isca-37436-loss has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for Region: ISCA-37436-Loss were changed from Hereditary neuropathy with liability to pressure palsies to Neuropathy, recurrent, with pressure palsies, MIM# 162500
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: isca-37436-loss has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Elena Savva (Victorian Clinical Genetics Services)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