Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The NLRP2 encodes an nucleotide-binding protein which plays a role in immune response. Also iit seems to be involved in methylation, so an involvement in hypomethylation syndrome is hypothesized.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
Hypomethylation syndrome
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DNMT1
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DNMT3A
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DNMT3B
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KHDC3L
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MECP2
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NLRP2
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NLRP7
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Recurrent hydatidiform mole 1
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NLRP7
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Recurrent hydatidiform mole 2
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KHDC3L
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ZFP57
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| 1. |
Caliebe A et al. (2014) A familial disorder of altered DNA-methylation. 
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| 2. |
Agostini L et al. (2004) NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder.
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| 3. |
Tschopp J et al. (2003) NALPs: a novel protein family involved in inflammation.
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| 4. |
Bruey JM et al. (2004) PAN1/NALP2/PYPAF2, an inducible inflammatory mediator that regulates NF-kappaB and caspase-1 activation in macrophages.
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| 5. |
Peng H et al. (2012) Nlrp2, a maternal effect gene required for early embryonic development in the mouse.
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| 6. |
NCBI article NCBI 55655
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| 7. |
OMIM.ORG article Omim 609364
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| 8. |
Wikipedia article Wikipedia EN (NLRP2)
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