CAKUT
Gene: ROR2Comment 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
Although genital abnormalities are a characteristic feature, renal abnormalities described in ~10%
Sources: Expert listCreated: 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
Mode of inheritance for gene: ROR2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene: ror2 has been classified as Green List (High Evidence).
Gene: ror2 has been classified as Amber List (Moderate Evidence).
Gene: ror2 has been classified as Green List (High Evidence).
Gene: ror2 has been classified as Amber List (Moderate Evidence).
Publications for gene: ROR2 were set to
Phenotypes for gene: ROR2 were changed from Robinow syndrome, autosomal recessive, MIM# 268310 to Robinow syndrome, autosomal recessive 268310
gene: ROR2 was added gene: ROR2 was added to CAKUT. Sources: Expert list Mode of inheritance for gene: ROR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ROR2 were set to Robinow syndrome, autosomal recessive, MIM# 268310 Review for gene: ROR2 was set to GREEN gene: ROR2 was marked as current diagnostic