Meckel-Gruber syndrome: genes and variants
Meckel-Gruber syndrome is linked to 1 analyzed protein (CEP290). 1 DNA variants are known to cause it; 696 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 Meckel-Gruber syndrome
CEP290: Centrosomal protein of 290 kDa
It organizes the transition zone of primary and sensory cilia and is essential for ciliary protein trafficking, especially in photoreceptors. Biallelic pathogenic variants cause a broad ciliopathy spectrum including Leber congenital amaurosis, Joubert syndrome, and nephronophthisis-related disease.
1 disease-causing and 696 uncertain variants in CEP290 are linked to Meckel-Gruber syndrome.
Known disease-causing variants in Meckel-Gruber syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CEP290 M1V | 1 | Self-association (with itself or C-terminus) | Disease-causing (★★) |
Same protein, different disease
- CEP290-related ciliopathy is also caused by CEP290 variants; they fall mostly in different places as the Meckel-Gruber syndrome variants (7 disease-causing).
- Joubert syndrome is also caused by CEP290 variants; they fall mostly in different places as the Meckel-Gruber syndrome variants (5 disease-causing).
Diseases related to Meckel-Gruber syndrome
- Retinitis pigmentosa, also linked to CEP290
- Leber congenital amaurosis, also linked to CEP290
- Bardet-Biedl syndrome, also linked to CEP290
- Senior-Loken syndrome, also linked to CEP290
- Nephronophthisis, also linked to CEP290
- Joubert syndrome, also linked to CEP290
- CEP290-related ciliopathy, also linked to CEP290
- Meckel syndrome, also linked to CEP290
Frequently asked questions
Which genes are linked to Meckel-Gruber syndrome?
In CATVariant, Meckel-Gruber syndrome is linked to 1 analyzed protein: CEP290 (Centrosomal protein of 290 kDa).
How many genetic variants are linked to Meckel-Gruber syndrome?
707 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 696 are of uncertain significance or have conflicting reports.
Which uncertain variants in Meckel-Gruber 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.
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