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Table 3 Diagnostic yield for each phenotypic group, mode of inheritance and gene

From: Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability

Phenotype Inheritance Gene Patients
CMT1 AD MPZ 5
NEFL 3
LITAF 3
GDAP1 3
MFN2 2
AARS 1
PMP22 1
X-L GJB1 3
ATP7A 1
AR SH3TC2 10
IGHMBP2 a 4
SBF2 2
FIG4 2
FGD4 1
Tested 101 Diagnosed 41
CMT2 AD MFN2 8
BSCL2 5
DYNC1H1 b 4
GDAP1 3
HSPB1 3
PMP22 3
SPTLC2 2
NEFL 2
SCN9A a 2
GARS 2
RAB7A 2
TRPV4 1
SH3TC2 1
DNM2 1
MPZ 1
X-L GJB1 6
AR IGHMBP2 a 4
GDAP1 2
FIG4 1
SLC12A6 1
Tested 152 Diagnosed 54
HMN AD DYNC1H1 b 5
GARS 4
HSPB1 3
REEP1 2
MFN2 2
SPTLC1 1
DNM2 1
PMP22 1
DCTN1 1
NEFL 1
LMNA a 1
AR IGHMBP2 a 2
tested 91 Diagnosed 24
HSN AD SPTLC2 1
AARS 1
PMP22 1
RAB7A 1
AR MED25 1
Tested 25 Diagnosed 5
Mixed AD AARS 5
MPZ 1
X-L GJB1 2
Tested 22 Diagnosed 8
Complex AD DYNC1H1 b 1
SEPT9 1
SH3TC2 1
AR SCN9A a 1
GAN 1
Tested 57 Diagnosed 5
Overall total 448 Diagnosed 137
  1. Highlighted bold: gene not previously available for routine diagnostic testing in UK
  2. aGene not previously requested for IPN
  3. bOnly part of the gene was previously available for testing