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Hereditary neuropathy

Region: ISCA-37436-Loss

17p12 recurrent (HNPP/CMT1A) region (includes PMP22) Loss

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

1 review

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Green rating for CNV region submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group. Comment: HNPP common deletion
Created: 29 Apr 2019, 10:03 a.m.

Details

ISCA ID
ISCA-37436-Loss
ISCA Region Name
17p12 recurrent (HNPP/CMT1A) region (includes PMP22) Loss
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
  • ClinGen
Phenotypes
  • 162500
  • Charcot-Marie-Tooth disease, type 1A
  • muscle weakness
  • repeated focal pressure neuropathies such as carpal tunnel syndrome and peroneal palsy with foot drop
  • Neuropathy, recurrent, with pressure palsies
  • mild to moderate peripheral neuropathy
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss
Publications

History Filter Activity

7 Sep 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Region: ISCA-37436-Loss was added Region: ISCA-37436-Loss was added to Charcot-Marie-Tooth disease. Sources: ClinGen,Expert Review Green 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 20301566 Phenotypes for Region: ISCA-37436-Loss were set to 162500; Charcot-Marie-Tooth disease, type 1A; muscle weakness; repeated focal pressure neuropathies such as carpal tunnel syndrome and peroneal palsy with foot drop; Neuropathy, recurrent, with pressure palsies; mild to moderate peripheral neuropathy