Melnick-Needles syndrome: genes and variants
Melnick-Needles syndrome is linked to 1 analyzed protein (FLNA). 8 DNA variants are known to cause it; 727 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 Melnick-Needles syndrome
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.
8 disease-causing and 727 uncertain variants in FLNA are linked to Melnick-Needles syndrome.
Where Melnick-Needles syndrome variants cluster
- FLNA Actin-binding (positions 2–274): 3 of 8 disease-causing changes, 3.6× more than its size predicts.
Known disease-causing variants in Melnick-Needles syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| FLNA G288R | 288 | Filamin 1 | Disease-causing (★★) |
| FLNA A1188T | 1188 | Filamin 10 | Disease-causing (★★) |
| FLNA S1199L | 1199 | Filamin 10 | Disease-causing (★★) |
| FLNA M28I | 28 | Actin-binding | Disease-causing (★) |
| FLNA E82V | 82 | Calponin-homology (CH) 1 | Disease-causing (★) |
| FLNA G1728V | 1728 | Filamin 15 | Disease-causing (★) |
| FLNA N94D | 94 | Calponin-homology (CH) 1 | Disease-causing (★) |
| FLNA K1937R | 1937 | Filamin 17 | Disease-causing (★) |
Same protein, different disease
- Oto-palato-digital syndrome, type II is also caused by FLNA variants; they fall mostly in different places as the Melnick-Needles syndrome variants (14 disease-causing).
- Heterotopia, periventricular, X-linked dominant is also caused by FLNA variants; they fall mostly in different places as the Melnick-Needles syndrome variants (14 disease-causing).
- Frontometaphyseal dysplasia is also caused by FLNA variants; they fall mostly in different places as the Melnick-Needles syndrome variants (12 disease-causing).
- Cardiac valvular dysplasia, X-linked is also caused by FLNA variants; they fall mostly in different places as the Melnick-Needles syndrome variants (4 disease-causing).
Diseases related to Melnick-Needles syndrome
- Familial thoracic aortic aneurysm and aortic dissection, also linked to FLNA
- Connective tissue disorder, also linked to FLNA
- Heterotopia, periventricular, X-linked dominant, also linked to FLNA
- Oto-palato-digital syndrome, type II, also linked to FLNA
- Frontometaphyseal dysplasia, 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 Melnick-Needles syndrome?
In CATVariant, Melnick-Needles syndrome is linked to 1 analyzed protein: FLNA (Filamin-A).
How many genetic variants are linked to Melnick-Needles syndrome?
891 variants: 8 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 727 are of uncertain significance or have conflicting reports.
Which uncertain variants in Melnick-Needles syndrome 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.
Download every variant as CSV · Browse all diseases · Methods · About the Center