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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.
Insufficiently evaluated not reviewed
(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)
Summary of published research, and additional commentary
Weller S, Cajigas I, Morrell J, Obie C, Steel G, Gould SJ, Valle D.
Alternative splicing suggests extended function of PEX26 in peroxisome
biogenesis. Am J Hum Genet. 2005 Jun;76(6):987-1007. Epub 2005 Apr 27. PubMed
PMID: 15858711; PubMed Central PMCID: PMC1196456.
This variant is found as a heterozygote in cis with R288fs366X and (in trans?) with P117L in a female with Infantile Refsum Disorder.
Furuki S, Tamura S, Matsumoto N, Miyata N, Moser A, Moser HW, Fujiki Y.
Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders
of complementation group 8 impair its stability, peroxisomal localization, and
interaction with the Pex1p x Pex6p complex. J Biol Chem. 2006 Jan
20;281(3):1317-23. Epub 2005 Oct 27. PubMed PMID: 16257970.
Functional assays of the R288fs366X/P153L construct show a mild phenotype.
huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het G @ chr22:18566288
GS07357 - var-GS07357-1100-36-ASM
het G @ chr22:16946288