ROR2

Chr 9

ROR family WNT receptor 2

Also known as: BDB, BDB1, NTRKR2, RRS1

NCBI Gene: 4920 ENSG00000169071 UniProt: Q01974

ROR2 encodes a receptor tyrosine kinase required for cartilage and growth plate development that acts as a receptor for WNT5A and phosphorylates proteins involved in bone formation. Mutations cause brachydactyly type B1 (autosomal dominant) characterized by underdeveloped distal finger bones and nails, and autosomal recessive Robinow syndrome featuring skeletal dysplasia with limb shortening, spinal defects, brachydactyly, and distinctive facial features. The gene shows low constraint to loss-of-function variation (LOEUF 0.558), consistent with its dual inheritance patterns depending on the specific mutation and resulting phenotype.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is a receptor protein tyrosine kinase and type I transmembrane protein that belongs to the ROR subfamily of cell surface receptors. The protein may be involved in the early formation of the chondrocytes and may be required for cartilage and growth plate development. Mutations in this gene can cause brachydactyly type B, a skeletal disorder characterized by hypoplasia/aplasia of distal phalanges and nails. In addition, mutations in this gene can cause the autosomal recessive form of Robinow syndrome, which is characterized by skeletal dysplasia with generalized limb bone shortening, segmental defects of the spine, brachydactyly, and a dysmorphic facial appearance. [provided by RefSeq, Jul 2008]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtBrachydactyly B1

UniProtRobinow syndrome, autosomal recessive 1

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.56

LOEUF

LOF*

Mechanism· G2P

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GeneReview available — ROR2