Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities: genes and variants
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities is linked to 1 analyzed protein (KDM6B). 10 DNA variants are known to cause it; 63 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 Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
KDM6B: Lysine-specific demethylase 6B
It removes repressive H3K27 methylation and helps activate developmental, inflammatory, and differentiation programs. Heterozygous pathogenic variants can cause a neurodevelopmental disorder with intellectual disability and variable craniofacial or skeletal features.
10 disease-causing and 63 uncertain variants in KDM6B are linked to Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities.
Where Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities variants cluster
- KDM6B JmjC (positions 1339–1502): 6 of 10 disease-causing changes, 6.0× more than its size predicts.
Known disease-causing variants in Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| KDM6B R1246C | 1246 | Disease-causing (★) | |
| KDM6B Q1391R | 1391 | JmjC | Disease-causing (★) |
| KDM6B Y1491C | 1491 | JmjC | Disease-causing (★) |
| KDM6B V535M | 535 | Disease-causing (★) | |
| KDM6B S1398Y | 1398 | JmjC | Disease-causing |
| KDM6B E1392K | 1392 | JmjC | Disease-causing |
| KDM6B F1396I | 1396 | JmjC | Disease-causing |
| KDM6B C1408R | 1408 | JmjC | Disease-causing |
| KDM6B R1566S | 1566 | Disease-causing | |
| KDM6B C1575S | 1575 | Disease-causing |
Frequently asked questions
Which genes are linked to Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities?
In CATVariant, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities is linked to 1 analyzed protein: KDM6B (Lysine-specific demethylase 6B).
How many genetic variants are linked to Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities?
111 variants: 10 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 63 are of uncertain significance or have conflicting reports.
Which uncertain variants in Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 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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