Steel Syndrome(Bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome)
An Autosomal recessive mode(s) within the Bone disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Bone disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | COL27A1/85301 | collagen type XXVII alpha 1 chain | 9q32 | Chr9, NC_000009.12 (114154098..114312511) |
158414 nt | 66 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities