Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome: genes and variants
Explore variant evidence for Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome across 1 analyzed protein (POGZ). Linked ClinVar records include 4 pathogenic or likely pathogenic variants, 54 variants of uncertain significance and 12 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. Counts refer to the selected disease label.
Data updated 2026-10-11. Automated aggregation, not a clinical review date.
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Genes linked to Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
POGZ: Pogo transposable element with ZNF domain
A zinc-finger chromatin-associated protein involved in chromosome organization and cell division. Variants cause White-Sutton syndrome, a neurodevelopmental disorder.
4 ClinVar pathogenic / likely pathogenic and 66 uncertain variants in POGZ have source records linked to Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome. Association strength is not clinical gene validity.
ClinVar pathogenic and likely pathogenic variants linked to Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| POGZ E1040K | 1040 | HTH CENPB-type | Pathogenic / likely pathogenic (★★) |
| POGZ Y473H | 473 | Pathogenic / likely pathogenic (★) | |
| POGZ R857G | 857 | Pathogenic / likely pathogenic (★) | |
| POGZ L576P | 576 | C2H2-type 4 | Pathogenic / likely pathogenic |
Frequently asked questions
Which genes have records linked to Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome?
This view contains 1 analyzed proteins: POGZ. 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 4 pathogenic or likely pathogenic variants, 54 variants of uncertain significance and 12 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 80 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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