Heterotopia, periventricular, X-linked dominant: genes and variants
Heterotopia, periventricular, X-linked dominant is linked to 1 analyzed protein (FLNA). 14 DNA variants are known to cause it; 853 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 Heterotopia, periventricular, X-linked dominant
FLNA: Filamin-A
It crosslinks actin and connects the cytoskeleton to membrane receptors and signaling proteins during cell migration and tissue morphogenesis. Pathogenic variants cause a broad spectrum including periventricular nodular heterotopia and several skeletal or connective-tissue disorders.
14 disease-causing and 852 uncertain variants in FLNA are linked to Heterotopia, periventricular, X-linked dominant.
Weakly linked (only a few uncertain records): VWF.
Where Heterotopia, periventricular, X-linked dominant variants cluster
- FLNA Actin-binding (positions 2–274): 7 of 14 disease-causing changes, 4.8× more than its size predicts.
- FLNA Filamin 10 (positions 1155–1249): 3 of 14 disease-causing changes, 6.0× more than its size predicts.
Known disease-causing variants in Heterotopia, periventricular, X-linked dominant
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| FLNA G1576R | 1576 | Filamin 14 | Disease-causing (★★) |
| FLNA G288R | 288 | Filamin 1 | Disease-causing (★★) |
| FLNA P207L | 207 | Calponin-homology (CH) 2 | Disease-causing (★★) |
| FLNA S1186L | 1186 | Filamin 10 | Disease-causing (★★) |
| FLNA S1199L | 1199 | Filamin 10 | Disease-causing (★★) |
| FLNA M28I | 28 | Actin-binding | Disease-causing (★) |
| FLNA L80V | 80 | Calponin-homology (CH) 1 | Disease-causing (★) |
| FLNA E82V | 82 | Calponin-homology (CH) 1 | Disease-causing (★) |
| FLNA P1223L | 1223 | Filamin 10 | Disease-causing (★) |
| FLNA K1937R | 1937 | Filamin 17 | Disease-causing (★) |
| FLNA V2644L | 2644 | Filamin 24 | Disease-causing (★) |
| FLNA M28V | 28 | Actin-binding | Disease-causing |
| FLNA A39G | 39 | Actin-binding | Disease-causing |
| FLNA A128V | 128 | Calponin-homology (CH) 1 | Disease-causing |
Which prediction tools work for Heterotopia, periventricular, X-linked dominant
How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).
- MetaLR: 91 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- AlphaMissense: 87 out of 100
- SIFT: 83 out of 100
- CATVariant: 83 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- MutPred2: 72 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- PolyPhen-2: 61 out of 100 (learned from overlapping clinical labels, so this is optimistic)
Same protein, different disease
- Oto-palato-digital syndrome, type II is also caused by FLNA variants; they fall mostly in different places as the Heterotopia, periventricular, X-linked dominant variants (14 disease-causing).
- Frontometaphyseal dysplasia is also caused by FLNA variants; they fall mostly in different places as the Heterotopia, periventricular, X-linked dominant variants (12 disease-causing).
- Melnick-Needles syndrome is also caused by FLNA variants; they fall mostly in different places as the Heterotopia, periventricular, X-linked dominant variants (8 disease-causing).
- Cardiac valvular dysplasia, X-linked is also caused by FLNA variants; they fall mostly in different places as the Heterotopia, periventricular, X-linked dominant variants (4 disease-causing).
Diseases related to Heterotopia, periventricular, X-linked dominant
- Familial thoracic aortic aneurysm and aortic dissection, also linked to FLNA
- Connective tissue disorder, also linked to FLNA
- Oto-palato-digital syndrome, type II, also linked to FLNA
- Frontometaphyseal dysplasia, also linked to FLNA
- Melnick-Needles syndrome, also linked to FLNA
- Periventricular nodular heterotopia, also linked to FLNA
- FG syndrome, also linked to FLNA
- Cardiac valvular dysplasia, X-linked, also linked to FLNA
Frequently asked questions
Which genes are linked to Heterotopia, periventricular, X-linked dominant?
In CATVariant, Heterotopia, periventricular, X-linked dominant is linked to 1 analyzed protein: FLNA (Filamin-A).
How many genetic variants are linked to Heterotopia, periventricular, X-linked dominant?
1,052 variants: 14 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 853 are of uncertain significance or have conflicting reports.
Which uncertain variants in Heterotopia, periventricular, X-linked dominant look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
Which variant effect predictor works best for Heterotopia, periventricular, X-linked dominant?
Among tools not trained on clinical labels, AlphaMissense separates this disease's known disease-causing variants from harmless ones best (AUROC 0.87, based on 9 disease-causing and 16 harmless variants).
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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