Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The GREB1L gene encodes a protein which is probably involved in retinoid signaling pathway. Mutations cause dominant renal agenesis and hypodysplasia (RHD).
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
Renal hypodysplasia/aplasia
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GREB1L
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Renal hypodysplasia/aplasia 1
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DSTYK
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ITGA8
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PAX2
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RET
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UPK3A
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Renal hypodysplasia/aplasia 2
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FGF20
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| 1. |
Sanna-Cherchi S et al. (2017) Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. 
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| 2. |
De Tomasi L et al. (2017) Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.
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| 3. |
Orphanet article Orphanet ID 470408
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| 4. |
NCBI article NCBI 80000
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| 5. |
Wikipedia article Wikipedia EN (GREB1L)
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