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Hereditary neuropathy

Region: ISCA-37436-Gain

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

Green List (high evidence)
Chromosome: 17
GRCh38 Position: 14194598-15519638
Haploinsufficiency Score:
Triplosensitivity Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Required percent of overlap: 60%
Variant types: CNV Gain

2 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 80% of hereditary neuropathy with liability to pressure palsies (HNPP) cases associated with this recurrent region.
Created: 2 Feb 2023, 3:20 p.m. | Last Modified: 2 Feb 2023, 3:21 p.m.
Panel Version: 1.458
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, 1:35 p.m. | Last Modified: 16 Mar 2022, 1:35 p.m.
Panel Version: 1.442
Created: 16 Mar 2022, 1:35 p.m.
Last Modified: 2 Feb 2023, 3:21 p.m.
Panel version: 1.458

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: CMT1A common duplication
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-Gain
ISCA Region Name
17p12 recurrent (HNPP/CMT1A) region (includes PMP22) Gain
Chromosome
17
GRCh38 Coordinates
14194598-15519638
Haploinsufficiency Score
Triplosensitivity Score
Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Required percent of overlap
60%
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • 118220
  • Charcot-Marie-Tooth neuropathy type 1
  • distal muscle weakness and atrophy, sensory loss, and slow nerve conduction velocity. It is usually slowly progressive and often associated with pes cavus foot deformity and bilateral foot drop
  • hereditary neuropathy
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Gain
Publications

History Filter Activity

2 Feb 2023, Gel status: 3

Changed GRCh38

Arina Puzriakova (Genomics England Curator)

GRCh38 position for ISCA-37436-Gain 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-Gain 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-Gain was added Region: ISCA-37436-Gain was added to Charcot-Marie-Tooth disease. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37436-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37436-Gain were set to 20301384 Phenotypes for Region: ISCA-37436-Gain were set to 118220; Charcot-Marie-Tooth neuropathy type 1; distal muscle weakness and atrophy, sensory loss, and slow nerve conduction velocity. It is usually slowly progressive and often associated with pes cavus foot deformity and bilateral foot drop; hereditary neuropathy