GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
MED25 P201Linsufficiently evaluated not reviewed, f=0.001unknown var-GS19703-1100-36-ASM
MED25 A335Vuncertain benignrecessive

Proposed by Leal et al 2009 to cause recessive Charcot-Marie-Tooth disorder in an extended Costa Rican family. (Reported via OMIM to ClinVar, see: http://www.ncbi.nlm.nih.gov/clinvar/RCV000001387/) According to ExAC allele frequency data, we would expect 1 in 25,000 to 30,000 people to be homozygous for this variant. Charcot-Marie-Tooth type 2 has a prevalence of 1 in 10,000. If this hypothesis were true, homozygosity this variant alone would theoretically account for more than a third of cases. As such we would expect strong evidence in literature for an effect, but we have only a single report of a family (where linkage can confound analysis) and no other reports.

MED25 A341Sinsufficiently evaluated not reviewed, f=0.009unknown
MED25 Q671Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_D06 from PGP sample 69488604
MED25 Q671Pinsufficiently evaluated not reviewed, f=0.029unknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS00253-DNA_G01_200_37
var-GS19017-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19670-1100-36-ASM
MED25 L691Sinsufficiently evaluated noneunknown
MED25 L691Vinsufficiently evaluated noneunknown
MED25 L720Shiftinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_F01_200_37
Total results: 8

Gene search

"GENE" or "GENE A123C":

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