Submission Details

The GREB1L gene is located on chromosome 18 at q11.1-11.2 and encodes the GREB1 like retinoic acid receptor coactivator protein, which is involved with retinoic acid signaling and is essential for early metanephros and genital development. GREB1L was first reported in relation to autosomal dominant renal agenesis and hypodysplasia (RHD) in 2017 (28739660; Brophy et al. 2017). At least seven unique variants including missense and loss-of-function variants have been reported in the literature. Evidence supporting this gene-disease relationship includes case-level data, segregation data, and experimental data. Variants in this gene have been reported in at least nine probands from three publications (28739660; Brophy et al. 2017; 29100091; Tomasi et al. 2017; 29100090; Sanna-Cherchi et al. 2017). Although segregation was observed in six families, incomplete penetrance was also noted. More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached. This gene-disease relationship is supported by animal models and expression studies (Tomasi et al. 2017). In summary, GREB1L is definitively associated with autosomal dominant renal agenesis and hypodysplasia (RHD).

PubMed IDs:

28739660 29100090 29100091 31424080

Assertion Criteria:

Click here to view assertion criteria

https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf

Submitter Submitted Date:

10/15/2020

The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).

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