Clinical Domain Working Groups

Peroxisomal Disorders Variant Curation Expert Panel

Membership

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

Step 1
Step 2
Step 3
Step 4
Define Group
Completed Nov. 2020
Develop Classification Rules
Pilot Rules
Expert Panel Approval

Expert Panel Membership

Membership spans many fields, including genetics, medical, academia, and industry.


Chairs

Coordinators
Please contact a coordinator if you have questions.