Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

GREB1-like protein

The GREB1L gene encodes a protein which is probably involved in retinoid signaling pathway. Mutations cause dominant renal agenesis and hypodysplasia (RHD).

Genetests:

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

Related Diseases:

Renal hypodysplasia/aplasia
GREB1L
Renal hypodysplasia/aplasia 1
DSTYK
ITGA8
PAX2
RET
UPK3A
Renal hypodysplasia/aplasia 2
FGF20

References:

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 [^]
4.

NCBI article

NCBI 80000 [^]
5.

Wikipedia article

Wikipedia EN (GREB1L) [^]
Update: April 29, 2019