Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel

Common deletion and duplication syndromes

Region: ISCA-37436-Loss

Hereditary neuropathy with liability to pressure palsies

Green List (high evidence)

Chromosome: 17
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)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neuropathy, recurrent, with pressure palsies, MIM# 162500

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

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
Created: 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
SV/CNV
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss
Publications

History Filter Activity

3 Dec 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to Region: ISCA-37436-Loss.

3 Dec 2020, Gel status: 3

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).

3 Dec 2020, Gel status: 3

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

3 Dec 2020, Gel status: 3

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).

1 Dec 2020, Gel status: 0

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