Clinical Domain Working Groups
Peroxisomal Disorders Variant Curation Expert Panel
This VCEP application contains twenty genes in which defects cause peroxisome biogenesis disorders and related single enzyme/protein defects. Variant curation will proceed in a tiered approach, starting with (1) the most common genes in which defects occur, (2) genes that have variants with unusual phenotypes, and (3) genes in which disease causing variants have moderate evidence (but more evidence may become available by the time of curation). Note that all tiers include conditions expected to be picked on newborn screening by elevated very long chain fatty acids.
Tier 1. ABCD1, PEX1, PEX6, PEX26, PEX7, HSD17B4
Tier 2. PEX2, PEX10, PEX12, PEX16
Tier 3. PEX3, PEX5, PEX11B, PEX13, PEX14, PEX19, ACOX1, PHYH, AGPS, GNPAT
Expert Panel Status
Expert Panel Membership
Membership spans many fields, including genetics, medical, academia, and industry.