Gene: PMP22 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894625
rs104894625
PMP22
0.810 GeneticVariation BEFREE A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes. 15205993

2004
dbSNP: rs104894625
rs104894625
PMP22
0.810 GeneticVariation UNIPROT A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes. 15205993

2004
dbSNP: rs104894625
rs104894625
PMP22
0.810 GeneticVariation UNIPROT HNPP due to a novel missense mutation of the PMP22 gene. 12796555

2003
dbSNP: rs104894625
rs104894625
PMP22
0.810 GeneticVariation UNIPROT A novel PMP22 point mutation causing HNPP phenotype: studies on nerve xenografts. 9748013

1998
dbSNP: rs104894625
rs104894625
PMP22
A 0.810 CausalMutation CLINVAR

dbSNP: rs104894623
rs104894623
PMP22
0.800 GeneticVariation UNIPROT A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes. 15205993

2004
dbSNP: rs104894623
rs104894623
PMP22
0.800 GeneticVariation UNIPROT HNPP due to a novel missense mutation of the PMP22 gene. 12796555

2003
dbSNP: rs104894623
rs104894623
PMP22
0.800 GeneticVariation UNIPROT A novel PMP22 point mutation causing HNPP phenotype: studies on nerve xenografts. 9748013

1998
dbSNP: rs104894623
rs104894623
PMP22
T 0.800 CausalMutation CLINVAR

dbSNP: rs104894619
rs104894619
PMP22
0.750 GeneticVariation BEFREE The severe sensorimotor polyneuropathy and hereditary neuropathy with liability to pressure palsies (HNPP) in this patient was likely a consequence of both decreased expression of PMP22 causing features consistent with HNPP and unopposed expression of the T118M mutant form of PMP22 that is relatively benign in the heterozygous state. 26012543

2015
dbSNP: rs104894619
rs104894619
PMP22
0.750 GeneticVariation BEFREE T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy. 16437560

2006
dbSNP: rs104894619
rs104894619
PMP22
0.750 GeneticVariation BEFREE The Thr(118)Met substitution in the peripheral myelin protein 22 (PMP22) gene has been detected in a number of families with demyelinating Charcot-Marie-Tooth (CMT1) neuropathy or with the hereditary neuropathy with liability to pressure palsy, but in none of them has it consistently segregated with the peripheral neuropathy. 14502374

2003
dbSNP: rs104894619
rs104894619
PMP22
0.750 GeneticVariation BEFREE Using allele-specific PCR we identified 14 [allele frequency (AF)=0.007] in the German general population, one (AF=0.01) in the HNPP group and six (AF=0.016) and two (AF=0.05) carriers of the PMP22 Thr118Met mutation in the CMT1 groups with and without gene defect. 11081809

2000
dbSNP: rs104894619
rs104894619
PMP22
0.750 GeneticVariation BEFREE Autosomal dominant Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies: detection of the recombination in Slovene patients and exclusion of the potentially recessive Thr118Met PMP22 point mutation. 9852256

1998
dbSNP: rs104894619
rs104894619
PMP22
A 0.750 CausalMutation CLINVAR

dbSNP: rs377335295
rs377335295
PMP22
0.710 GeneticVariation BEFREE This study provides unequivocal evidence that a base pair change causing a Val30Met substitution at the junction of the first TM domain and the extracellular loop of PMP22 results in the HNPP phenotype. 9748013

1998
dbSNP: rs377335295
rs377335295
PMP22
0.710 GeneticVariation UNIPROT

dbSNP: rs587776691
rs587776691
PMP22
A 0.700 CausalMutation CLINVAR

dbSNP: rs80338763
rs80338763
PMP22
GC 0.700 CausalMutation CLINVAR

dbSNP: rs863225027
rs863225027
PMP22
0.010 GeneticVariation BEFREE We report four novel point mutations in the PMP22 gene with two different phenotypes: mutation p.Ser79Thr arose de novo in a patient with the Dejerine-Sottas neuropathy (DSN) phenotype; and mutations c.78+5 G>A, c.320-1 G>C, and p.Trp140Stop segregated with HNPP in 5 families.Our findings show that point mutations in PMP22 may be more likely in HNPP patients than in CMT1 patients after exclusion of CMT1A/HNPP. 22006697

2011