PEX11G

Inheritance Pattern: AR

Disease ID:MONDO:0019234

Submitter: ClinGen

The relationship between PEX11G and Peroxisome Biogenesis Disorder, an autosomal recessive disorder, was evaluated using the ClinGen Clinical Validity Framework as of May, 2020. PEX11G is a member of the PEX11 family, which is composed of membrane elongation factors involved in regulation of peroxisome maintenance and proliferation. PEX11G has not been reported in relation to human disease, to the best of our knowledge. PMID: 26935981 reports that a homozygous PEX11G variant was identified by whole exome sequencing in a patient with mevalonate kinase deficiency. Two heterozygous variants in MVK as well as variants in other genes were detected in this patient. The authors suggest the PEX11G variant may be a modifier and implicated in the blurred vision phenotype in the patient. Of note, this variant is reported in gnomAD v2.1.1 at the highest MAF of 0.03814 in the non-Finnish European population with 62 homozygotes. Therefore, the PEX11G variant is not considered to be contributing towards any phenotype in the patient. In summary, no convincing evidence for a causal role for PEX11G in autosomal recessive peroxisome biogenesis disorder in humans has been reported (SOP Version 7).