GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PEX26 M1Tinsufficiently evaluated pathogenicunknown

(7 web hits)

PEX26 P11Linsufficiently evaluated not reviewedunknown var-GS20509-1100-36-ASM
PEX26 L44Finsufficiently evaluated not reviewedunknown var-GS19649-1100-36-ASM
PEX26 L45Pinsufficiently evaluated pathogenicunknown

(7 web hits)

PEX26 G89Rinsufficiently evaluated pathogenicunknown

(22 web hits)

PEX26 R98Winsufficiently evaluated pathogenic, f=0.000unknown

(11 web hits)

PEX26 Y109Hpathogenic, f=0.003recessive

Unreported, predicted to be damaging. Other recessive missense mutations in this gene cause severe disorders involving peroxisome dysfunction (neonatal adrenoleukodystrophy, infantile refsum disease, and Zellweger syndrome).

CGI sample GS00253-DNA_F01_200_37
PEX26 L153Vinsufficiently evaluated none, f=0.013recessive

This variant was found in cis with R288fs366X in a female with Infantile Refsum Disorder. Functional assays showed this combination to have a mild phenotype.

(1 web hit)

var-GS07357-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
PEX26 R304Hinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F06 from PGP sample 64191565
Total results: 9

Gene search

"GENE" or "GENE A123C":

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