Meckel syndrome: genes and variants
Meckel syndrome is linked to 3 analyzed proteins (CEP290, PKD2 and PKD1). 2 DNA variants are known to cause it; 55 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: Meckel syndrome, type 4; Meckel syndrome, type 6
Genes linked to Meckel 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.
2 disease-causing and 55 uncertain variants in CEP290 are linked to Meckel syndrome.
PKD2: Polycystin-2
It provides calcium-permeable polycystin channel activity and forms signaling complexes with polycystin-1 in renal epithelial cells. Loss-of-function variants cause autosomal dominant polycystic kidney disease, generally with a milder average course than PKD1-associated disease.
0 disease-causing and 0 uncertain variants in PKD2 are linked to Meckel syndrome.
PKD1: Polycystin-1
Together with polycystin-2, it participates in tubular signaling, mechanosensation, and maintenance of renal epithelial architecture. Loss-of-function variants are the most common cause of autosomal dominant polycystic kidney disease.
0 disease-causing and 0 uncertain variants in PKD1 are linked to Meckel syndrome.
Known disease-causing variants in Meckel syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CEP290 E1572K | 1572 | Coiled coil | Disease-causing (★) |
| CEP290 Q819L | 819 | Coiled coil | Disease-causing (★) |
Same protein, different disease
- CEP290-related ciliopathy is also caused by CEP290 variants; they fall mostly in different places as the Meckel syndrome variants (7 disease-causing).
- Joubert syndrome is also caused by CEP290 variants; they fall mostly in different places as the Meckel syndrome variants (5 disease-causing).
Diseases related to Meckel syndrome
- Polycystic kidney disease, adult type, also linked to PKD1 and PKD2
- Autosomal dominant polycystic kidney disease, also linked to PKD1 and PKD2
- Polycystic kidney disease, also linked to PKD1 and PKD2
- Kidney disorder, also linked to PKD1 and PKD2
- Chronic kidney disease, also linked to PKD1 and PKD2
- 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
Frequently asked questions
Which genes are linked to Meckel syndrome?
In CATVariant, Meckel syndrome is linked to 3 analyzed proteins: CEP290 (Centrosomal protein of 290 kDa), PKD2 (Polycystin-2) and PKD1 (Polycystin-1).
How many genetic variants are linked to Meckel syndrome?
77 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 55 are of uncertain significance or have conflicting reports.
Which uncertain variants in Meckel 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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