History of neurodevelopmental disorder: genes and variants
History of neurodevelopmental disorder is linked to 1 analyzed protein (ABCD1). 1 DNA variants are known to cause it; 5 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to History of neurodevelopmental disorder
ABCD1: ATP-binding cassette sub-family D member 1
An ATP-powered transporter that moves very-long-chain fatty-acyl molecules into peroxisomes for processing. It supports fatty-acid breakdown, myelin maintenance, and energy metabolism, and loss of ABCD1 function causes X-linked adrenoleukodystrophy.
1 disease-causing and 0 uncertain variants in ABCD1 are linked to History of neurodevelopmental disorder.
Weakly linked (only a few uncertain records): MECP2, BCOR, CDKL5, FLNA, IDS, KIF1A, L1CAM and NLGN4X.
Known disease-causing variants in History of neurodevelopmental disorder
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ABCD1 R280C | 280 | ABC transmembrane type-1 | Disease-causing (★★) |
Same protein, different disease
- Adrenoleukodystrophy is also caused by ABCD1 variants; they fall mostly in different places as the History of neurodevelopmental disorder variants (174 disease-causing).
Diseases related to History of neurodevelopmental disorder
- Adrenoleukodystrophy, also linked to ABCD1
Frequently asked questions
Which genes are linked to History of neurodevelopmental disorder?
In CATVariant, History of neurodevelopmental disorder is linked to 1 analyzed protein: ABCD1 (ATP-binding cassette sub-family D member 1).
How many genetic variants are linked to History of neurodevelopmental disorder?
11 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 5 are of uncertain significance or have conflicting reports.
Which uncertain variants in History of neurodevelopmental disorder look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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