{"count":8,"next":null,"previous":null,"results":[{"gene_data":{"alias":["H6","NKX5-3"],"biotype":"protein_coding","hgnc_id":"HGNC:5017","gene_name":"H6 family homeobox 1","omim_gene":["142992"],"alias_name":null,"gene_symbol":"HMX1","hgnc_symbol":"HMX1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"4:8847802-8873543","ensembl_id":"ENSG00000215612"}},"GRch38":{"90":{"location":"4:8846076-8871817","ensembl_id":"ENSG00000215612"}}},"hgnc_date_symbol_changed":"1994-12-19"},"entity_type":"gene","entity_name":"HMX1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["18423520","25574057","25574057","19379485","10779178","1360670","9337406"],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen","UKGTN","Expert list"],"phenotypes":["Bilateral Microtia","612109","Oculoauricular syndrome","syndromic features","Oculoauricular syndrome 612109"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":251,"hash_id":"57f4dbd18f62036d37cfe4e4","name":"Deafness and congenital structural abnormalities","disease_group":"Hearing and ear disorders","disease_sub_group":"Deafness and congenital structural abnormalities","status":"public","version":"1.17","version_created":"2019-06-20T15:10:56.166309Z","relevant_disorders":["Bilateral microtia","Ear malformations with hearing impairment","Ear malformations","Familial hemifacial microsomia"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["H6","NKX5-3"],"biotype":"protein_coding","hgnc_id":"HGNC:5017","gene_name":"H6 family homeobox 1","omim_gene":["142992"],"alias_name":null,"gene_symbol":"HMX1","hgnc_symbol":"HMX1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"4:8847802-8873543","ensembl_id":"ENSG00000215612"}},"GRch38":{"90":{"location":"4:8846076-8871817","ensembl_id":"ENSG00000215612"}}},"hgnc_date_symbol_changed":"1994-12-19"},"entity_type":"gene","entity_name":"HMX1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["Gillespie et al (2015) Invest. Ophthal. Vis. Sci. 56: 883-891","Schorderet et al (2008) Am. J. Hum. Genet. 82: 1178-1184"],"evidence":["Expert Review Green","UKGTN"],"phenotypes":["Oculoauricular syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":230,"hash_id":"553f979fbb5a1616e5ed45f8","name":"Cataracts","disease_group":"Ophthalmological disorders","disease_sub_group":"Anterior segment abnormalities","status":"public","version":"2.0","version_created":"2019-10-02T14:52:22.701027Z","relevant_disorders":["R31"],"stats":{"number_of_genes":172,"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."}]}},{"gene_data":{"alias":["H6","NKX5-3"],"biotype":"protein_coding","hgnc_id":"HGNC:5017","gene_name":"H6 family homeobox 1","omim_gene":["142992"],"alias_name":null,"gene_symbol":"HMX1","hgnc_symbol":"HMX1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"4:8847802-8873543","ensembl_id":"ENSG00000215612"}},"GRch38":{"90":{"location":"4:8846076-8871817","ensembl_id":"ENSG00000215612"}}},"hgnc_date_symbol_changed":"1994-12-19"},"entity_type":"gene","entity_name":"HMX1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["18423520","25574057","21417677","19379485"],"evidence":["Expert Review Green","GDL Corneal Abnormalities panel"],"phenotypes":["Oculoauricular syndrome \t612109"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":"553f979ebb5a1616e5ed45f6","name":"Corneal abnormalities","disease_group":"Ophthalmological disorders","disease_sub_group":"Anterior segment abnormalities","status":"public","version":"1.7","version_created":"2019-04-01T14:16:45.925824Z","relevant_disorders":["Corneal abnormalities","Corneal dystrophy"],"stats":{"number_of_genes":42,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["H6","NKX5-3"],"biotype":"protein_coding","hgnc_id":"HGNC:5017","gene_name":"H6 family homeobox 1","omim_gene":["142992"],"alias_name":null,"gene_symbol":"HMX1","hgnc_symbol":"HMX1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"4:8847802-8873543","ensembl_id":"ENSG00000215612"}},"GRch38":{"90":{"location":"4:8846076-8871817","ensembl_id":"ENSG00000215612"}}},"hgnc_date_symbol_changed":"1994-12-19"},"entity_type":"gene","entity_name":"HMX1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["18423520","25574057","21417677","29140751"],"evidence":["Expert Review Green","Literature","Radboud University Medical Center, Nijmegen","UKGTN"],"phenotypes":["Oculoauricular syndrome  612109"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":294,"hash_id":"5550a166bb5a161bf644a3b6","name":"Ocular coloboma","disease_group":"Ophthalmological disorders","disease_sub_group":"Ocular malformations","status":"public","version":"1.34","version_created":"2019-06-20T15:15:14.600523Z","relevant_disorders":[],"stats":{"number_of_genes":63,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["H6","NKX5-3"],"biotype":"protein_coding","hgnc_id":"HGNC:5017","gene_name":"H6 family homeobox 1","omim_gene":["142992"],"alias_name":null,"gene_symbol":"HMX1","hgnc_symbol":"HMX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:8847802-8873543","ensembl_id":"ENSG00000215612"}},"GRch38":{"90":{"location":"4:8846076-8871817","ensembl_id":"ENSG00000215612"}}},"hgnc_date_symbol_changed":"1994-12-19"},"entity_type":"gene","entity_name":"HMX1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","PAGE DD-Gene2Phenotype"],"phenotypes":["OCULOAURICULAR SYNDROME"],"mode_of_inheritance":"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":["H6","NKX5-3"],"biotype":"protein_coding","hgnc_id":"HGNC:5017","gene_name":"H6 family homeobox 1","omim_gene":["142992"],"alias_name":null,"gene_symbol":"HMX1","hgnc_symbol":"HMX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:8847802-8873543","ensembl_id":"ENSG00000215612"}},"GRch38":{"90":{"location":"4:8846076-8871817","ensembl_id":"ENSG00000215612"}}},"hgnc_date_symbol_changed":"1994-12-19"},"entity_type":"gene","entity_name":"HMX1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["18423520"],"evidence":["DD-Gene2Phenotype","Expert Review Amber"],"phenotypes":["OCULOAURICULAR SYNDROME 612109"],"mode_of_inheritance":"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":["H6","NKX5-3"],"biotype":"protein_coding","hgnc_id":"HGNC:5017","gene_name":"H6 family homeobox 1","omim_gene":["142992"],"alias_name":null,"gene_symbol":"HMX1","hgnc_symbol":"HMX1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"4:8847802-8873543","ensembl_id":"ENSG00000215612"}},"GRch38":{"90":{"location":"4:8846076-8871817","ensembl_id":"ENSG00000215612"}}},"hgnc_date_symbol_changed":"1994-12-19"},"entity_type":"gene","entity_name":"HMX1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["H6","NKX5-3"],"biotype":"protein_coding","hgnc_id":"HGNC:5017","gene_name":"H6 family homeobox 1","omim_gene":["142992"],"alias_name":null,"gene_symbol":"HMX1","hgnc_symbol":"HMX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:8847802-8873543","ensembl_id":"ENSG00000215612"}},"GRch38":{"90":{"location":"4:8846076-8871817","ensembl_id":"ENSG00000215612"}}},"hgnc_date_symbol_changed":"1994-12-19"},"entity_type":"gene","entity_name":"HMX1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21417677","29140751","25574057","18423520"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Oculoauricular syndrome  612109"],"mode_of_inheritance":"BOTH monoallelic and 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)"}]}}]}
