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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.

external link
2.

De Tomasi L et al. (2017) Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.

external link
3.

Orphanet article

Orphanet ID 470408 external link
4.

NCBI article

NCBI 80000 external link
5.

Wikipedia article

Wikipedia EN (GREB1L) external link
Update: Aug. 14, 2020
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