{"count":16,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2217","gene_name":"collagen type IX alpha 1 chain","omim_gene":["120210"],"alias_name":null,"gene_symbol":"COL9A1","hgnc_symbol":"COL9A1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:70924764-71012786","ensembl_id":"ENSG00000112280"}},"GRch38":{"90":{"location":"6:70215061-70303083","ensembl_id":"ENSG00000112280"}}},"hgnc_date_symbol_changed":"1989-05-08"},"entity_type":"gene","entity_name":"COL9A1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"Other - please provide details in the comments","publications":["PMID: 11565064","PMID: 21922596 (no mutations found)","PMID: 15523498 (no mutations found)","PMID: 14684695 (no mutations found)","PMID: 10678658 (no mutations found)","PMID: 20358595 (no mutations found)","PMID: 16691584 (no mutations found)"],"evidence":["Expert Review Red","Expert","Radboud University Medical Center, Nijmegen","Emory Genetics Laboratory","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["multiple epiphyseal dysplasia","Multiple Epiphyseal Dysplasia, Dominant","Epiphyseal dysplasia, multiple, 6, 614135","Stickler syndrome, type IV, 614134"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":211,"hash_id":"553f968cbb5a1616e5ed45cd","name":"Multiple Epiphyseal Dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","status":"public","version":"1.2","version_created":"2017-11-05T02:37:20.234212Z","relevant_disorders":[],"stats":{"number_of_genes":11,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2217","gene_name":"collagen type IX alpha 1 chain","omim_gene":["120210"],"alias_name":null,"gene_symbol":"COL9A1","hgnc_symbol":"COL9A1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:70924764-71012786","ensembl_id":"ENSG00000112280"}},"GRch38":{"90":{"location":"6:70215061-70303083","ensembl_id":"ENSG00000112280"}}},"hgnc_date_symbol_changed":"1989-05-08"},"entity_type":"gene","entity_name":"COL9A1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","ClinGen"],"phenotypes":["Familial thoracic aortic aneurysm and aortic dissection"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":210,"hash_id":"594be3878f62037ee3e7e72f","name":"ClinGen_Familial thoracic aortic aneurysm and aortic dissection","disease_group":"","disease_sub_group":"","status":"public","version":"0.10","version_created":"2017-11-05T02:37:20.232365Z","relevant_disorders":[],"stats":{"number_of_genes":53,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"ClinGen Curated genes","slug":"clingen-curated-genes","description":"ClinGen Curated genes"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2217","gene_name":"collagen type IX alpha 1 chain","omim_gene":["120210"],"alias_name":null,"gene_symbol":"COL9A1","hgnc_symbol":"COL9A1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:70924764-71012786","ensembl_id":"ENSG00000112280"}},"GRch38":{"90":{"location":"6:70215061-70303083","ensembl_id":"ENSG00000112280"}}},"hgnc_date_symbol_changed":"1989-05-08"},"entity_type":"gene","entity_name":"COL9A1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Emory Genetics Laboratory"],"phenotypes":["Eye Disorders"],"mode_of_inheritance":"","tags":[],"panel":{"id":249,"hash_id":"55507b25bb5a161bf644a3b2","name":"Glaucoma (developmental)","disease_group":"Ophthalmological disorders","disease_sub_group":"Anterior segment abnormalities","status":"public","version":"1.5","version_created":"2019-06-20T15:15:07.662717Z","relevant_disorders":[],"stats":{"number_of_genes":224,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2217","gene_name":"collagen type IX alpha 1 chain","omim_gene":["120210"],"alias_name":null,"gene_symbol":"COL9A1","hgnc_symbol":"COL9A1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:70924764-71012786","ensembl_id":"ENSG00000112280"}},"GRch38":{"90":{"location":"6:70215061-70303083","ensembl_id":"ENSG00000112280"}}},"hgnc_date_symbol_changed":"1989-05-08"},"entity_type":"gene","entity_name":"COL9A1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Emory Genetics Laboratory","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen"],"phenotypes":["Epiphyseal dysplasia, multiple, 6, 614135","Stickler syndrome, type IV, 614134","Stickler Syndrome, Recessive"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3,"hash_id":"554a0ac9bb5a167e4ccd1ec1","name":"Stickler syndrome","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","status":"public","version":"2.0","version_created":"2019-08-01T09:23:50.385079Z","relevant_disorders":["R45"],"stats":{"number_of_genes":10,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"name":"GMS Rare Disease","slug":"gms-rare-disease","description":"This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"},{"name":"GMS signed-off","slug":"gms-signed-off","description":"This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2217","gene_name":"collagen type IX alpha 1 chain","omim_gene":["120210"],"alias_name":null,"gene_symbol":"COL9A1","hgnc_symbol":"COL9A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:70924764-71012786","ensembl_id":"ENSG00000112280"}},"GRch38":{"90":{"location":"6:70215061-70303083","ensembl_id":"ENSG00000112280"}}},"hgnc_date_symbol_changed":"1989-05-08"},"entity_type":"gene","entity_name":"COL9A1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","South West GLH","South West GLH"],"phenotypes":[],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":700,"hash_id":null,"name":"Thoracic aortic aneurysm and dissection","disease_group":"","disease_sub_group":"","status":"public","version":"0.32","version_created":"2019-10-02T11:56:22.695639Z","relevant_disorders":["R125"],"stats":{"number_of_genes":62,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"GMS Rare Disease Virtual","slug":"gms-rare-disease-virtual","description":"This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2217","gene_name":"collagen type IX alpha 1 chain","omim_gene":["120210"],"alias_name":null,"gene_symbol":"COL9A1","hgnc_symbol":"COL9A1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:70924764-71012786","ensembl_id":"ENSG00000112280"}},"GRch38":{"90":{"location":"6:70215061-70303083","ensembl_id":"ENSG00000112280"}}},"hgnc_date_symbol_changed":"1989-05-08"},"entity_type":"gene","entity_name":"COL9A1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["South West GLH","Expert list"],"phenotypes":[],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":1,"hash_id":"5596735822c1fc4f7d26e96d","name":"Thoracic aortic aneurysm or dissection","disease_group":"Cardiovascular disorders","disease_sub_group":"Connective tissue disorders and aortopathies","status":"public","version":"1.103","version_created":"2019-10-02T10:51:03.815181Z","relevant_disorders":["Familial retinal arteriolar tortuosity","FTAAD","Familial Thoracic Aortic Aneurysm Disease"],"stats":{"number_of_genes":63,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2217","gene_name":"collagen type IX alpha 1 chain","omim_gene":["120210"],"alias_name":null,"gene_symbol":"COL9A1","hgnc_symbol":"COL9A1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:70924764-71012786","ensembl_id":"ENSG00000112280"}},"GRch38":{"90":{"location":"6:70215061-70303083","ensembl_id":"ENSG00000112280"}}},"hgnc_date_symbol_changed":"1989-05-08"},"entity_type":"gene","entity_name":"COL9A1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green","","Emory Genetics Laboratory","Expert","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen","Emory Genetics Laboratory"],"phenotypes":["Stickler syndrome, type IV 614134","Epiphyseal dysplasia, multiple, 6 614135"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":309,"hash_id":"5693952f22c1fc251660fb1e","name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","status":"public","version":"1.203","version_created":"2019-10-03T09:38:50.417968Z","relevant_disorders":["Unexplained skeletal dysplasia","Skeletal dysplasia"],"stats":{"number_of_genes":546,"number_of_strs":1,"number_of_regions":6},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"name":"GMS Rare Disease Virtual","slug":"gms-rare-disease-virtual","description":"This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2217","gene_name":"collagen type IX alpha 1 chain","omim_gene":["120210"],"alias_name":null,"gene_symbol":"COL9A1","hgnc_symbol":"COL9A1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:70924764-71012786","ensembl_id":"ENSG00000112280"}},"GRch38":{"90":{"location":"6:70215061-70303083","ensembl_id":"ENSG00000112280"}}},"hgnc_date_symbol_changed":"1989-05-08"},"entity_type":"gene","entity_name":"COL9A1","confidence_level":"0","penetrance":"Complete","mode_of_pathogenicity":"","publications":["16909383","21421862","20301479"],"evidence":["Expert Review Removed","NHS GMS","Illumina TruGenome Clinical Sequencing Services","Emory Genetics Laboratory","Radboud University Medical Center, Nijmegen","Expert list"],"phenotypes":["Stickler syndrome, type IV, 614134","?Epiphyseal dysplasia, multiple, 6, 614135","Connective Tissue Disorders","ocular, auditory, skeletal, and orofacial abnormalities.Most forms of Stickler syndrome are characterized by the eye findings of high myopia, vitreoretinal degeneration, retinal detachment, and cataracts."],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":53,"hash_id":"588728f38f62030cf7152165","name":"Ehlers Danlos syndromes","disease_group":"Rheumatological disorders","disease_sub_group":"Connective tissues disorders","status":"public","version":"2.1","version_created":"2019-10-09T07:04:44.655768Z","relevant_disorders":["Classical Ehlers Danlos Syndrome","Classical Ehlers-Danlos Syndrome","Ehlers-Danlos Syndrome (unusual phenotypes e.g. absent pain sense)","Ehlers-Danlos syndrome type 3","Kyphoscoliotic Ehlers-Danlos syndrome","EDS","Ehlers-Danlos syndromes","R101"],"stats":{"number_of_genes":75,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"name":"GMS Rare Disease","slug":"gms-rare-disease","description":"This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"},{"name":"GMS signed-off","slug":"gms-signed-off","description":"This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2217","gene_name":"collagen type IX alpha 1 chain","omim_gene":["120210"],"alias_name":null,"gene_symbol":"COL9A1","hgnc_symbol":"COL9A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:70924764-71012786","ensembl_id":"ENSG00000112280"}},"GRch38":{"90":{"location":"6:70215061-70303083","ensembl_id":"ENSG00000112280"}}},"hgnc_date_symbol_changed":"1989-05-08"},"entity_type":"gene","entity_name":"COL9A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["PAGE DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["STICKLER SYNDROME TYPE 4","MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 6"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":478,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","status":"public","version":"0.344","version_created":"2019-09-17T09:38:10.568007Z","relevant_disorders":["R21"],"stats":{"number_of_genes":1721,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"GMS Rare Disease Virtual","slug":"gms-rare-disease-virtual","description":"This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2217","gene_name":"collagen type IX alpha 1 chain","omim_gene":["120210"],"alias_name":null,"gene_symbol":"COL9A1","hgnc_symbol":"COL9A1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:70924764-71012786","ensembl_id":"ENSG00000112280"}},"GRch38":{"90":{"location":"6:70215061-70303083","ensembl_id":"ENSG00000112280"}}},"hgnc_date_symbol_changed":"1989-05-08"},"entity_type":"gene","entity_name":"COL9A1","confidence_level":"0","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Removed","Emory Genetics Laboratory"],"phenotypes":["Disproportionate Short Stature"],"mode_of_inheritance":"","tags":[],"panel":{"id":196,"hash_id":"55896ed2bb5a1671a7fef4f9","name":"Osteogenesis imperfecta","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","status":"public","version":"2.0","version_created":"2019-09-04T11:35:54.595856Z","relevant_disorders":["Osteogenesis Imperfecta","R102"],"stats":{"number_of_genes":184,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"name":"GMS Rare Disease","slug":"gms-rare-disease","description":"This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"},{"name":"GMS signed-off","slug":"gms-signed-off","description":"This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2217","gene_name":"collagen type IX alpha 1 chain","omim_gene":["120210"],"alias_name":null,"gene_symbol":"COL9A1","hgnc_symbol":"COL9A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:70924764-71012786","ensembl_id":"ENSG00000112280"}},"GRch38":{"90":{"location":"6:70215061-70303083","ensembl_id":"ENSG00000112280"}}},"hgnc_date_symbol_changed":"1989-05-08"},"entity_type":"gene","entity_name":"COL9A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11565064"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["STICKLER SYNDROME TYPE 4 614134","MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 6 614135"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":484,"hash_id":null,"name":"DDG2P","disease_group":"","disease_sub_group":"","status":"public","version":"1.137","version_created":"2019-10-08T15:56:59.220133Z","relevant_disorders":[],"stats":{"number_of_genes":1893,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"GMS Rare Disease","slug":"gms-rare-disease","description":"This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2217","gene_name":"collagen type IX alpha 1 chain","omim_gene":["120210"],"alias_name":null,"gene_symbol":"COL9A1","hgnc_symbol":"COL9A1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:70924764-71012786","ensembl_id":"ENSG00000112280"}},"GRch38":{"90":{"location":"6:70215061-70303083","ensembl_id":"ENSG00000112280"}}},"hgnc_date_symbol_changed":"1989-05-08"},"entity_type":"gene","entity_name":"COL9A1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert","Radboud University Medical Center, Nijmegen"],"phenotypes":["Epiphyseal dysplasia, multiple, 6, 614135Stickler syndrome, type IV, 614134","Epiphysealdysplasia,multiple,6,614135Sticklersyndrome,typeIV,614134"],"mode_of_inheritance":"","tags":[],"panel":{"id":126,"hash_id":"558ac48fbb5a16630dcfeaad","name":"Hearing loss","disease_group":"Hearing and ear disorders","disease_sub_group":"Non-syndromic hearing loss","status":"public","version":"2.2","version_created":"2019-09-03T14:01:56.987667Z","relevant_disorders":["Congenital hearing impairment","Autosomal dominant deafness","Congenital hearing impairment (profound/severe)","R67"],"stats":{"number_of_genes":358,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"name":"GMS Rare Disease Virtual","slug":"gms-rare-disease-virtual","description":"This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."},{"name":"GMS signed-off","slug":"gms-signed-off","description":"This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."},{"name":"GMS Rare Disease","slug":"gms-rare-disease","description":"This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2217","gene_name":"collagen type IX alpha 1 chain","omim_gene":["120210"],"alias_name":null,"gene_symbol":"COL9A1","hgnc_symbol":"COL9A1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:70924764-71012786","ensembl_id":"ENSG00000112280"}},"GRch38":{"90":{"location":"6:70215061-70303083","ensembl_id":"ENSG00000112280"}}},"hgnc_date_symbol_changed":"1989-05-08"},"entity_type":"gene","entity_name":"COL9A1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["16909383","21421862"],"evidence":["Victorian Clinical Genetics Services","Expert Review Green","Radboud University Medical Center, Nijmegen","UKGTN"],"phenotypes":["Stickler syndrome, type IV (ophthalmological: myopia, retinal detachment and cataracts, orofacial: micrognathia, midface hypoplasia and cleft palate, auditory:sensorineural hearing loss and articular: epiphyseal dysplasia) symptoms","Autosomal recessive Stickler syndrome","Orofacial Clefting with skeletal features","Cleft palate"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":81,"hash_id":"57acb8268f620364dc61afd3","name":"Clefting","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","status":"public","version":"1.59","version_created":"2019-09-03T09:03:20.170928Z","relevant_disorders":["Familial non-syndromic cleft lip and or familial cleft palate","Familial non-syndromic clefting","Syndromic cleft lip and or cleft palate","Syndromic clefting"],"stats":{"number_of_genes":258,"number_of_strs":0,"number_of_regions":5},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"name":"GMS Rare Disease Virtual","slug":"gms-rare-disease-virtual","description":"This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2217","gene_name":"collagen type IX alpha 1 chain","omim_gene":["120210"],"alias_name":null,"gene_symbol":"COL9A1","hgnc_symbol":"COL9A1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:70924764-71012786","ensembl_id":"ENSG00000112280"}},"GRch38":{"90":{"location":"6:70215061-70303083","ensembl_id":"ENSG00000112280"}}},"hgnc_date_symbol_changed":"1989-05-08"},"entity_type":"gene","entity_name":"COL9A1","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":" ","publications":[],"evidence":["Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["?Epiphyseal dysplasia, multiple, 6, 614135","Stickler syndrome, type IV, 614134"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":285,"hash_id":"558aa423bb5a16630e15b63c","name":"Intellectual disability","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neurodevelopmental disorders","status":"public","version":"2.1065","version_created":"2019-10-07T13:42:16.019766Z","relevant_disorders":["Coarse facial features including Coffin-Siris-like disorders","ID","Moderate","severe or profound intellectual disability","Schizophrenia plus additional features","Intellectual disability - microarray","fragile X and sequencing"],"stats":{"number_of_genes":2253,"number_of_strs":11,"number_of_regions":57},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"name":"GMS Rare Disease Virtual","slug":"gms-rare-disease-virtual","description":"This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2217","gene_name":"collagen type IX alpha 1 chain","omim_gene":["120210"],"alias_name":null,"gene_symbol":"COL9A1","hgnc_symbol":"COL9A1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:70924764-71012786","ensembl_id":"ENSG00000112280"}},"GRch38":{"90":{"location":"6:70215061-70303083","ensembl_id":"ENSG00000112280"}}},"hgnc_date_symbol_changed":"1989-05-08"},"entity_type":"gene","entity_name":"COL9A1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Red"],"phenotypes":["Eye Disorders"],"mode_of_inheritance":"","tags":[],"panel":{"id":307,"hash_id":"56e0238b22c1fc09c97a6e46","name":"Retinal disorders","disease_group":"Ophthalmological disorders","disease_sub_group":"Posterior segment abnormalities","status":"public","version":"1.199","version_created":"2019-10-08T09:22:18.436205Z","relevant_disorders":["Posterior segment abnormalities","Cone Dysfunction Syndrome","Developmental macular and foveal dystrophy","Inherited macular dystrophy","Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy","Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy","Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy","Rod Dysfunction Syndrome","Rod-cone dystrophy","Familial exudative vitreoretinopathy","Familial exudative retinopathy","R32","R33","R34","R35"],"stats":{"number_of_genes":320,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"name":"GMS Rare Disease Virtual","slug":"gms-rare-disease-virtual","description":"This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2217","gene_name":"collagen type IX alpha 1 chain","omim_gene":["120210"],"alias_name":null,"gene_symbol":"COL9A1","hgnc_symbol":"COL9A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:70924764-71012786","ensembl_id":"ENSG00000112280"}},"GRch38":{"90":{"location":"6:70215061-70303083","ensembl_id":"ENSG00000112280"}}},"hgnc_date_symbol_changed":"1989-05-08"},"entity_type":"gene","entity_name":"COL9A1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Red"],"phenotypes":["Stickler syndrome, type IV, 614134","Eye Disorders"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":509,"hash_id":null,"name":"Structural eye disease","disease_group":"","disease_sub_group":"","status":"public","version":"0.93","version_created":"2019-10-09T13:18:12.923145Z","relevant_disorders":["R36"],"stats":{"number_of_genes":456,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"GMS Rare Disease","slug":"gms-rare-disease","description":"This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"}]}}]}
