The ABCD1 Variant Registry
All variants are described according to HGVS nomenclature and annotated against transcript NM_000033.3 on GRCh37 (hg19). Because ABCD1 variants have no predictive value for the clinical outcome of an individual patient, no phenotypic information is given.
Instead the registry reports cases. An ALD case is an individual diagnosed with clinical signs and symptoms associated with ALD — adrenal disease, myeloneuropathy and/or cerebral ALD — with biochemical confirmation. Individuals identified through newborn screening are asymptomatic at detection and are counted separately, under NBS.
Classification
- Pathogenic
- two or more independent ALD cases
- Likely pathogenic
- one ALD case
- NBS-associated
- identified through newborn screening, with C26:0-lysoPC above the reference range; not yet associated with disease
- VUS
- insufficient evidence either way, outside the newborn screening context
- Likely benign
- normal VLCFA or C26:0-lysoPC in male subjects, or 7–19 non-ALD alleles
- Benign
- as above, or 20 or more non-ALD alleles
Submit a variant
New variants, additional cases for a variant already listed, and evidence that refines a classification are all welcome. To make a submission useful, please include as much of the following as you can:
- The variant in HGVS notation at cDNA level (for example
c.1415_1416del), against transcript NM_000033.3. - The predicted consequence at protein level, if known (for example
p.Gln472Argfs*83). - How it was identified — a diagnosed ALD case, a newborn screening finding, or an incidental finding.
- Biochemistry, if available: C26:0-lysoPC or VLCFA values, and the laboratory reference range they were measured against.
- A reference — a PubMed ID, a DOI, or an indication that the finding is unpublished.
For a case, a few clinical details help confirm the phenotype. These are optional, and confirmed rather than precautionary findings are what matter:
- Sex: male / female
- Adrenal insufficiency, biochemically confirmed (elevated ACTH and/or abnormal Synacthen test), not precautionary stress dosing: yes / no / unknown
- Myeloneuropathy (AMN): yes / no / unknown
- Cerebral ALD: yes / no / unknown
- Age category: under 18 / 18–40 / 40–60 / over 60
Please do not include patient-identifying information. The registry records variants and evidence, not personal data.
Compose emailLast modified | 2026-07-31