CAKUT

Gene: ROR2

Comment on mode of inheritance: Based on Gen2Phen confirmed rating of disease association including hydronephrosis in Robinow syndrome autosomal dominant and in ROR2-related disorders autosomal recessive.

Created: 21 May 2020, 4:39 p.m. | Last Modified: 21 May 2020, 4:39 p.m.

Panel Version: 1.147

Comment on list classification: Associated with relevant phenotype in OMIM and as Confirmed Gen2Phen gene, where hydronephrosis is reported in Robinow syndrome autosomal dominant and in ROR2-related disorders autosomal recessive.
At least 8 variants reported have been reported in Robinow syndrome, autosomal recessive 268310 in the literature (PMID 10932187;19640924;18831060), however, renal anomolies were only reported in one case (PMID 15952209).

Green rating is based on Expert review by Zornitza Stark that ~10% of cases of Robinow syndrome, autosomal recessive 268310 have renal abnormalities and because of the Confirmed Gen2Phen rating.

Created: 21 May 2020, 4:29 p.m. | Last Modified: 21 May 2020, 4:38 p.m.

Panel Version: 1.146

Green List (high evidence)

Although genital abnormalities are a characteristic feature, renal abnormalities described in ~10%
Sources: Expert list

Created: 16 Jan 2020, 4:29 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Robinow syndrome, autosomal recessive, MIM# 268310

Variants in this GENE are reported as part of current diagnostic practice