{"count":9,"next":null,"previous":null,"results":[{"gene_data":{"alias":["MRP6","EST349056","MLP1","URG7"],"biotype":"protein_coding","hgnc_id":"HGNC:57","gene_name":"ATP binding cassette subfamily C member 6","omim_gene":["603234"],"alias_name":null,"gene_symbol":"ABCC6","hgnc_symbol":"ABCC6","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"16:16242785-16317379","ensembl_id":"ENSG00000091262"}},"GRch38":{"90":{"location":"16:16148928-16223522","ensembl_id":"ENSG00000091262"}}},"hgnc_date_symbol_changed":"1997-10-27"},"entity_type":"gene","entity_name":"ABCC6","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Moyamoya disease"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":147,"hash_id":"5819a24f8f6203341de99c89","name":"Cerebral vascular malformations","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Cerebrovascular disorders","status":"public","version":"1.47","version_created":"2019-09-13T13:47:21.970257Z","relevant_disorders":["Cerebrovascular disorders","Vein of Galen malformation","Cerebral arteriovenous malformations","Moyamoya disease"],"stats":{"number_of_genes":95,"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":["MRP6","EST349056","MLP1","URG7"],"biotype":"protein_coding","hgnc_id":"HGNC:57","gene_name":"ATP binding cassette subfamily C member 6","omim_gene":["603234"],"alias_name":null,"gene_symbol":"ABCC6","hgnc_symbol":"ABCC6","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"16:16242785-16317379","ensembl_id":"ENSG00000091262"}},"GRch38":{"90":{"location":"16:16148928-16223522","ensembl_id":"ENSG00000091262"}}},"hgnc_date_symbol_changed":"1997-10-27"},"entity_type":"gene","entity_name":"ABCC6","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["15825558","17964712","697322"],"evidence":["Expert list","Expert Review Green","Literature"],"phenotypes":["Pseudoxanthoma elasticum\t264800\tAR","Pseudoxanthoma elasticum, forme fruste\t177850\tAD"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":50,"hash_id":"5693787622c1fc25158f3c9a","name":"Familial cerebral small vessel disease","disease_group":"Cardiovascular disorders","disease_sub_group":"Arteriopathies","status":"public","version":"1.6","version_created":"2019-01-20T15:15:42.512731Z","relevant_disorders":[],"stats":{"number_of_genes":16,"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":["MRP6","EST349056","MLP1","URG7"],"biotype":"protein_coding","hgnc_id":"HGNC:57","gene_name":"ATP binding cassette subfamily C member 6","omim_gene":["603234"],"alias_name":null,"gene_symbol":"ABCC6","hgnc_symbol":"ABCC6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:16242785-16317379","ensembl_id":"ENSG00000091262"}},"GRch38":{"90":{"location":"16:16148928-16223522","ensembl_id":"ENSG00000091262"}}},"hgnc_date_symbol_changed":"1997-10-27"},"entity_type":"gene","entity_name":"ABCC6","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber"],"phenotypes":[],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":565,"hash_id":null,"name":"Rare genetic inflammatory skin disorders","disease_group":"","disease_sub_group":"","status":"public","version":"0.14","version_created":"2019-09-09T15:38:40.627314Z","relevant_disorders":[],"stats":{"number_of_genes":60,"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":["MRP6","EST349056","MLP1","URG7"],"biotype":"protein_coding","hgnc_id":"HGNC:57","gene_name":"ATP binding cassette subfamily C member 6","omim_gene":["603234"],"alias_name":null,"gene_symbol":"ABCC6","hgnc_symbol":"ABCC6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:16242785-16317379","ensembl_id":"ENSG00000091262"}},"GRch38":{"90":{"location":"16:16148928-16223522","ensembl_id":"ENSG00000091262"}}},"hgnc_date_symbol_changed":"1997-10-27"},"entity_type":"gene","entity_name":"ABCC6","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","South West GLH","South West GLH"],"phenotypes":[],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","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":["MRP6","EST349056","MLP1","URG7"],"biotype":"protein_coding","hgnc_id":"HGNC:57","gene_name":"ATP binding cassette subfamily C member 6","omim_gene":["603234"],"alias_name":null,"gene_symbol":"ABCC6","hgnc_symbol":"ABCC6","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"16:16242785-16317379","ensembl_id":"ENSG00000091262"}},"GRch38":{"90":{"location":"16:16148928-16223522","ensembl_id":"ENSG00000091262"}}},"hgnc_date_symbol_changed":"1997-10-27"},"entity_type":"gene","entity_name":"ABCC6","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["10835643"],"evidence":["South West GLH","Expert list"],"phenotypes":["#614473- Arterial calcification, generalized, of infancy, 2","#264800- Pseudoxanthoma elasticum","#177850- Pseudoxanthoma elasticum, forme fruste"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","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":["MRP6","EST349056","MLP1","URG7"],"biotype":"protein_coding","hgnc_id":"HGNC:57","gene_name":"ATP binding cassette subfamily C member 6","omim_gene":["603234"],"alias_name":null,"gene_symbol":"ABCC6","hgnc_symbol":"ABCC6","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"16:16242785-16317379","ensembl_id":"ENSG00000091262"}},"GRch38":{"90":{"location":"16:16148928-16223522","ensembl_id":"ENSG00000091262"}}},"hgnc_date_symbol_changed":"1997-10-27"},"entity_type":"gene","entity_name":"ABCC6","confidence_level":"0","penetrance":"Complete","mode_of_pathogenicity":"","publications":["10835643","10835642","10811882","18800149"],"evidence":["Expert Review Removed","NHS GMS","Radboud University Medical Center, Nijmegen","Expert list"],"phenotypes":["Pseudoxanthoma elasticum, AR","264800","Pseudoxanthoma elasticum, forme fruste, AD","177850"],"mode_of_inheritance":"BOTH monoallelic and 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":["MRP6","EST349056","MLP1","URG7"],"biotype":"protein_coding","hgnc_id":"HGNC:57","gene_name":"ATP binding cassette subfamily C member 6","omim_gene":["603234"],"alias_name":null,"gene_symbol":"ABCC6","hgnc_symbol":"ABCC6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:16242785-16317379","ensembl_id":"ENSG00000091262"}},"GRch38":{"90":{"location":"16:16148928-16223522","ensembl_id":"ENSG00000091262"}}},"hgnc_date_symbol_changed":"1997-10-27"},"entity_type":"gene","entity_name":"ABCC6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["PAGE DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2"],"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":["MRP6","EST349056","MLP1","URG7"],"biotype":"protein_coding","hgnc_id":"HGNC:57","gene_name":"ATP binding cassette subfamily C member 6","omim_gene":["603234"],"alias_name":null,"gene_symbol":"ABCC6","hgnc_symbol":"ABCC6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:16242785-16317379","ensembl_id":"ENSG00000091262"}},"GRch38":{"90":{"location":"16:16148928-16223522","ensembl_id":"ENSG00000091262"}}},"hgnc_date_symbol_changed":"1997-10-27"},"entity_type":"gene","entity_name":"ABCC6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22209248"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 614473"],"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":["MRP6","EST349056","MLP1","URG7"],"biotype":"protein_coding","hgnc_id":"HGNC:57","gene_name":"ATP binding cassette subfamily C member 6","omim_gene":["603234"],"alias_name":null,"gene_symbol":"ABCC6","hgnc_symbol":"ABCC6","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"16:16242785-16317379","ensembl_id":"ENSG00000091262"}},"GRch38":{"90":{"location":"16:16148928-16223522","ensembl_id":"ENSG00000091262"}}},"hgnc_date_symbol_changed":"1997-10-27"},"entity_type":"gene","entity_name":"ABCC6","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Pseudoxanthoma elasticum, 264800","Pseudoxanthoma elasticum, forme fruste, 177850","Arterial calcification, generalized, of infancy, 2, 614473"],"mode_of_inheritance":"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"}]}}]}