ROR2 Chromosome 9
Receptor tyrosine kinase like orphan receptor 2
Upload your DNA to see your personal genotypes for variants in ROR2.
What This Gene Does
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]
Gene Info
Gene Group
"Receptor tyrosine kinases|I-set domain containing|Kringle domain containing"
Locus Type
gene with protein product
Location
9q22.31
Ensembl
ENSG00000169071
Associated Conditions (18)
Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita
Short stature
Brachydactyly type B1
Autosomal recessive Robinow syndrome
Gastric cancer
Inborn genetic diseases
ROR2-related disorder
Distal symphalangism
Thyroid cancer
nonmedullary
1
Brachydactyly
type B1Robinow syndrome
autosomal recessive
Robinow syndrome
with brachy-syn-polydactyly
with aplasia/hypoplasia of phalanges and metacarpals/metatarsals
Key Variants
RS117134265
Conflicting classifications of pathogenicity
Fetal akinesia deformation sequence 1, Arthrogryposis multiplex congenita, Short stature
Health Risk
RS1350375399
Conflicting classifications of pathogenicity
Autosomal recessive Robinow syndrome, Autosomal recessive Robinow syndrome
Health Risk
RS138310082
Conflicting classifications of pathogenicity
Brachydactyly type B1, Autosomal recessive Robinow syndrome, Inborn genetic diseases
Health Risk
RS139654946
Conflicting classifications of pathogenicity
Brachydactyly type B1, Autosomal recessive Robinow syndrome, Brachydactyly type B1
Health Risk
RS140557090
Conflicting classifications of pathogenicity
Health Risk
RS140579674
Conflicting classifications of pathogenicity
Autosomal recessive Robinow syndrome, Brachydactyly type B1, Autosomal recessive Robinow syndrome
Health Risk
RS141070315
Conflicting classifications of pathogenicity
Inborn genetic diseases, ROR2-related disorder, Inborn genetic diseases
Health Risk
RS141093530
Conflicting classifications of pathogenicity
Health Risk
RS141235720
Conflicting classifications of pathogenicity
Autosomal recessive Robinow syndrome, Brachydactyly type B1, ROR2-related disorder
Health Risk
RS142215888
Conflicting classifications of pathogenicity
Autosomal recessive Robinow syndrome, Brachydactyly type B1, Inborn genetic diseases
Health Risk
RS142386294
Conflicting classifications of pathogenicity
Brachydactyly type B1, Autosomal recessive Robinow syndrome, ROR2-related disorder
Health Risk
RS142386992
Conflicting classifications of pathogenicity
Autosomal recessive Robinow syndrome, Brachydactyly type B1, Autosomal recessive Robinow syndrome
Health Risk
All Variants (133)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS768848657 | Health Risk | Likely pathogenic | Autosomal recessive Robinow syndrome, Autosomal recessive Robinow syndrome |
| RS104894121 | Health Risk | Pathogenic | Brachydactyly type B1, Brachydactyly type B1 |
| RS104894122 | Health Risk | Pathogenic | Brachydactyly type B1, Brachydactyly type B1 |
| RS121909082 | Health Risk | Pathogenic | Brachydactyly type B1, Brachydactyly type B1 |
| RS121909083 | Health Risk | Pathogenic | Autosomal recessive Robinow syndrome, Autosomal recessive Robinow syndrome |
| RS121909085 | Health Risk | Pathogenic | Autosomal recessive Robinow syndrome, Autosomal recessive Robinow syndrome |
| RS121909086 | Health Risk | Pathogenic | Autosomal recessive Robinow syndrome, Autosomal recessive Robinow syndrome |
| RS121909087 | Health Risk | Pathogenic | Autosomal recessive Robinow syndrome, Autosomal recessive Robinow syndrome |
| RS1308509155 | Health Risk | Pathogenic | Autosomal recessive Robinow syndrome, Brachydactyly type B1, Autosomal recessive Robinow syndrome |
| RS1365019676 | Health Risk | Pathogenic | Autosomal recessive Robinow syndrome, Autosomal recessive Robinow syndrome |
| RS1386358302 | Health Risk | Pathogenic | — |
| RS1554754007 | Health Risk | Pathogenic | — |
| RS1587657302 | Health Risk | Pathogenic | Brachydactyly type B1, Brachydactyly type B1 |
| RS1837228121 | Health Risk | Pathogenic | Autosomal recessive Robinow syndrome, Autosomal recessive Robinow syndrome |
| RS2118125388 | Health Risk | Pathogenic | — |
| RS2118125646 | Health Risk | Pathogenic | Autosomal recessive Robinow syndrome, Autosomal recessive Robinow syndrome |
| RS2118126851 | Health Risk | Pathogenic | Autosomal recessive Robinow syndrome, Autosomal recessive Robinow syndrome |
| RS2118629582 | Health Risk | Pathogenic | — |
| RS2118645585 | Health Risk | Pathogenic | Autosomal recessive Robinow syndrome, Autosomal recessive Robinow syndrome |
| RS2118702517 | Health Risk | Pathogenic | Autosomal recessive Robinow syndrome, Autosomal recessive Robinow syndrome |
| RS2490108821 | Health Risk | Pathogenic | — |
| RS2490167392 | Health Risk | Pathogenic | — |
| RS2490167919 | Health Risk | Pathogenic | — |
| RS2490373112 | Health Risk | Pathogenic | — |
| RS267607016 | Health Risk | Pathogenic | Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly |
| RS766058276 | Health Risk | Pathogenic | — |
| RS774471352 | Health Risk | Pathogenic | — |
| RS863223289 | Health Risk | Pathogenic | Brachydactyly type B1, Brachydactyly type B1 |
| RS863223290 | Health Risk | Pathogenic | Brachydactyly type B1, Robinow syndrome, autosomal recessive |
| RS863223291 | Health Risk | Pathogenic | Autosomal recessive Robinow syndrome, Autosomal recessive Robinow syndrome |
| RS863223292 | Health Risk | Pathogenic | Brachydactyly type B1, Brachydactyly type B1 |
| RS886042428 | Health Risk | Pathogenic | — |
| RS1448877786 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive Robinow syndrome, Brachydactyly type B1, Autosomal recessive Robinow syndrome |