Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome: genes and variants
Explore variant evidence for Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome across 1 analyzed protein (ASXL3). Linked ClinVar records include 1 pathogenic or likely pathogenic variants, 60 variants of uncertain significance and 15 with conflicting classifications.
Coverage includes proteins already analyzed in CATVariant, not every gene involved in this condition. Database links are associations, not an assessment of clinical gene–disease validity. Computable evidence prioritizes variants for expert review and does not reclassify them. Source labels are pooled across this disease family.
Data updated 2026-10-21. Automated aggregation, not a clinical review date.
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Genes linked to Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
ASXL3: Putative Polycomb group protein ASXL3
A chromatin regulator that helps maintain transcriptional programs during development. Pathogenic variants cause Bainbridge-Ropers syndrome.
1 ClinVar pathogenic / likely pathogenic and 75 uncertain variants in ASXL3 have source records linked to Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome. Association strength is not clinical gene validity.
ClinVar pathogenic and likely pathogenic variants linked to Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ASXL3 S1269R | 1269 | Pathogenic / likely pathogenic (★) |
Frequently asked questions
Which genes have records linked to Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome?
This view contains 1 analyzed proteins: ASXL3. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.
What do the clinical classifications mean?
Linked records include 1 pathogenic or likely pathogenic variants, 60 variants of uncertain significance and 15 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.
Does the evidence score change a VUS classification?
No. 0 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.
Can I download the variant evidence?
Download the CSV for all 119 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses 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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