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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: 14194598-15519638
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 60%
Variant types: CNV Loss

3 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Genomic coordinates updated based on ClinGen Region Curation Results (version on 05 Aug 2022) following NHS Genomic Medicine Service approval. Additional comments: About 70-80% of Charcot-Marie-Tooth type 1A (CMT1A) cases associated with duplications in this region.
Created: 2 Feb 2023, 3:22 p.m. | Last Modified: 2 Feb 2023, 3:22 p.m.
Panel Version: 1.458
Created: 2 Feb 2023, 3:22 p.m.
Last Modified: 2 Feb 2023, 3:22 p.m.
Panel version: 1.458

Eleanor Williams (Genomics England Curator)

The required percent of overlap for this region has been changed from 80% to 60% following NHS Genomic Medicine Service approval.
Created: 16 Mar 2022, 1:33 p.m. | Last Modified: 16 Mar 2022, 1:33 p.m.
Panel Version: 1.442
Created: 16 Mar 2022, 1:33 p.m.
Last Modified: 16 Mar 2022, 1:33 p.m.
Panel version: 1.442

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.
Created: 29 Apr 2019, 10:03 a.m.

Panel version: 1.55

Details

ISCA ID
ISCA-37436-Loss
ISCA Region Name
17p12 recurrent (HNPP/CMT1A) region (includes PMP22) Loss
Chromosome
17
GRCh38 Coordinates
14194598-15519638
Haploinsufficiency Score
Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score
Required percent of overlap
60%
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

2 Feb 2023, Gel status: 3

Changed GRCh38

Arina Puzriakova (Genomics England Curator)

GRCh38 position for ISCA-37436-Loss was changed from 14194598-15567587 to 14194598-15519638.

16 Mar 2022, Gel status: 3

Changed Required Overlap Percentage

Arina Puzriakova (Genomics England Curator)

Required Overlap Percentage for ISCA-37436-Loss was changed from 80 to 60.

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