Stickler Syndrome
An Autosomal dominant, Autosomal recessive mode(s) within the Bone disorders category
Candidate Gene Information
An Autosomal dominant, 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 | COL11A1/1301 | collagen type XI alpha 1 chain | 1p21.1 | Chr1, NC_000001.11 (102876473..103108522, complement) |
232050 nt | 73 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | COL9A1/1297 | collagen type IX alpha 1 chain | 6q13 | Chr6, NC_000006.12 (70215061..70303084, complement) |
88024 nt | 43 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | COL2A1/1280 | collagen type II alpha 1 chain | 12q13.11-q13.2 | Chr12, NC_000012.12 (47972967..48006212, complement) |
33246 nt | 57 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | COL9A2/1298 | collagen type IX alpha 2 chain | 1p34.2 | Chr1, NC_000001.11 (40300489..40317286, complement) |
16798 nt | 35 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | COL9A3/1299 | collagen type IX alpha 3 chain | 20q13.33 | Chr20, NC_000020.11 (62816213..62841159) |
24947 nt | 33 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | COL11A2/1302 | collagen type XI alpha 2 chain | 6p21.32 | Chr6, NC_000006.12 (33162694..33193137, complement) |
30444 nt | 70 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | LOXHD1/125336 | lipoxygenase homology PLAT domains 1 | 18q21.1 | Chr18, NC_000018.10 (46476961..46657220, complement) |
180260 nt | 52 | 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
Prevalence
| Under development |