P004: Variant curation guideline specifications for ABCD1 from the ClinGen Peroxisomal Variant Curation Expert Panel*
Peroxisomal disorders encompass a clinically and genetically heterogeneous group of disorders caused by impaired peroxisome biogenesis or function. Among them, ABCD1 deficiency aka Adrenoleukodystrophy (ALD) is the most common, caused by pathogenic variants in ABCD1 gene (OMIM 300371) on the X chromosome. ALD manifests as early-onset cerebral adrenoleukodystrophy, late-onset adrenomyeloneuropathy, or isolated adrenal insufficiency. Disease expression varies among affected individuals, and approximately half of the female individuals with ABCD1 deficiency manifest with a late onset myeloneuropathy.
Authors
- Tatiana Yuzyuk (ORCID: https://orcid.org/0000-0001-5567-0704)
- Rong Mao (ORCID: https://orcid.org/0000-0002-1236-0252)
- Shruthi Mohan (ORCID: https://orcid.org/0000-0002-2796-282X)
- Ann Moser
- Alexa Dickson (ORCID: https://orcid.org/0009-0008-4217-5729)
- Nancy Braverman (ORCID: https://orcid.org/0000-0003-1621-5164)
- Irene DeBiase
- Tiziano Pramparo (ORCID: https://orcid.org/0000-0001-6929-1027)
- R. Logan
- Emily Kyle
- Stephanie Francis
- Raquel Fernandez
- Meredith Weaver
- Sharon F. Suchy
- Pepper St. Clair
- Ashley Ratzsch
- Randy Cockerell
Institutions
- University of North Carolina at Chapel Hill (US)
- Kennedy Krieger Institute (US)
- Washington University in St. Louis (US)
- American College of Medical Genetics (US)
- McGill University Health Centre (CA)
- Children's Healthcare of Atlanta (US)
- ARUP Laboratories (United States) (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102848
- Primary Topic
- Biomedical Ethics and Regulation
- Type
- article
- Field-Weighted Citation Impact
- 0.00