{"count":8,"next":null,"previous":null,"results":[{"gene_data":{"alias":["FLJ11752","NTKL-BP1","GO"],"biotype":"protein_coding","hgnc_id":"HGNC:25676","gene_name":"golgin, RAB6 interacting","omim_gene":["607983"],"alias_name":["gerodermia osteodysplastica","RAB6-interacting golgin"],"gene_symbol":"GORAB","hgnc_symbol":"GORAB","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:170501270-170522587","ensembl_id":"ENSG00000120370"}},"GRch38":{"90":{"location":"1:170532129-170553446","ensembl_id":"ENSG00000120370"}}},"hgnc_date_symbol_changed":"2009-02-13"},"entity_type":"gene","entity_name":"GORAB","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["26000619"],"evidence":["Expert Review Red","UKGTN","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services","Emory Genetics Laboratory","Research"],"phenotypes":["Geroderma osteodysplasticum\t231070"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":25,"hash_id":"58346b8b8f62036225ca8a7d","name":"Congenital disorders of glycosylation","disease_group":"Metabolic disorders","disease_sub_group":"Specific metabolic abnormalities","status":"public","version":"1.32","version_created":"2019-10-07T16:15:06.398101Z","relevant_disorders":["Congential disorders of glycosylation"],"stats":{"number_of_genes":100,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["FLJ11752","NTKL-BP1","GO"],"biotype":"protein_coding","hgnc_id":"HGNC:25676","gene_name":"golgin, RAB6 interacting","omim_gene":["607983"],"alias_name":["gerodermia osteodysplastica","RAB6-interacting golgin"],"gene_symbol":"GORAB","hgnc_symbol":"GORAB","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:170501270-170522587","ensembl_id":"ENSG00000120370"}},"GRch38":{"90":{"location":"1:170532129-170553446","ensembl_id":"ENSG00000120370"}}},"hgnc_date_symbol_changed":"2009-02-13"},"entity_type":"gene","entity_name":"GORAB","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green","","Emory Genetics Laboratory"],"phenotypes":["Geroderma osteodysplasticum 231070"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["FLJ11752","NTKL-BP1","GO"],"biotype":"protein_coding","hgnc_id":"HGNC:25676","gene_name":"golgin, RAB6 interacting","omim_gene":["607983"],"alias_name":["gerodermia osteodysplastica","RAB6-interacting golgin"],"gene_symbol":"GORAB","hgnc_symbol":"GORAB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:170501270-170522587","ensembl_id":"ENSG00000120370"}},"GRch38":{"90":{"location":"1:170532129-170553446","ensembl_id":"ENSG00000120370"}}},"hgnc_date_symbol_changed":"2009-02-13"},"entity_type":"gene","entity_name":"GORAB","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["26000619"],"evidence":["Expert Review Red"],"phenotypes":["Geroderma osteodysplasticum"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":467,"hash_id":null,"name":"Inborn errors of metabolism","disease_group":"","disease_sub_group":"","status":"public","version":"1.348","version_created":"2019-10-09T08:19:52.386941Z","relevant_disorders":["Likely inborn error of metabolism - targeted testing not possible"],"stats":{"number_of_genes":877,"number_of_strs":2,"number_of_regions":1},"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."},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["FLJ11752","NTKL-BP1","GO"],"biotype":"protein_coding","hgnc_id":"HGNC:25676","gene_name":"golgin, RAB6 interacting","omim_gene":["607983"],"alias_name":["gerodermia osteodysplastica","RAB6-interacting golgin"],"gene_symbol":"GORAB","hgnc_symbol":"GORAB","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:170501270-170522587","ensembl_id":"ENSG00000120370"}},"GRch38":{"90":{"location":"1:170532129-170553446","ensembl_id":"ENSG00000120370"}}},"hgnc_date_symbol_changed":"2009-02-13"},"entity_type":"gene","entity_name":"GORAB","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["18997784","19681135"],"evidence":["NHS GMS","Expert Review Green","Other","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Geroderma osteodysplasticum, 231070"],"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":["FLJ11752","NTKL-BP1","GO"],"biotype":"protein_coding","hgnc_id":"HGNC:25676","gene_name":"golgin, RAB6 interacting","omim_gene":["607983"],"alias_name":["gerodermia osteodysplastica","RAB6-interacting golgin"],"gene_symbol":"GORAB","hgnc_symbol":"GORAB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:170501270-170522587","ensembl_id":"ENSG00000120370"}},"GRch38":{"90":{"location":"1:170532129-170553446","ensembl_id":"ENSG00000120370"}}},"hgnc_date_symbol_changed":"2009-02-13"},"entity_type":"gene","entity_name":"GORAB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["PAGE DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["Geroderma osteodysplasticum"],"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":["FLJ11752","NTKL-BP1","GO"],"biotype":"protein_coding","hgnc_id":"HGNC:25676","gene_name":"golgin, RAB6 interacting","omim_gene":["607983"],"alias_name":["gerodermia osteodysplastica","RAB6-interacting golgin"],"gene_symbol":"GORAB","hgnc_symbol":"GORAB","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:170501270-170522587","ensembl_id":"ENSG00000120370"}},"GRch38":{"90":{"location":"1:170532129-170553446","ensembl_id":"ENSG00000120370"}}},"hgnc_date_symbol_changed":"2009-02-13"},"entity_type":"gene","entity_name":"GORAB","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["18997784","28807865"],"evidence":["Expert Review Green","NHS GMS","Emory Genetics Laboratory"],"phenotypes":["Osteogenesis Imperfecta and Decreased Bone Density","skeletal dysplasias","congenital wrinkly skin","prematurely aged face","extremely short stature","osteoporosis leading to recurrent fractures"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["FLJ11752","NTKL-BP1","GO"],"biotype":"protein_coding","hgnc_id":"HGNC:25676","gene_name":"golgin, RAB6 interacting","omim_gene":["607983"],"alias_name":["gerodermia osteodysplastica","RAB6-interacting golgin"],"gene_symbol":"GORAB","hgnc_symbol":"GORAB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:170501270-170522587","ensembl_id":"ENSG00000120370"}},"GRch38":{"90":{"location":"1:170532129-170553446","ensembl_id":"ENSG00000120370"}}},"hgnc_date_symbol_changed":"2009-02-13"},"entity_type":"gene","entity_name":"GORAB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18997784"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["Geroderma osteodysplasticum"],"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":["FLJ11752","NTKL-BP1","GO"],"biotype":"protein_coding","hgnc_id":"HGNC:25676","gene_name":"golgin, RAB6 interacting","omim_gene":["607983"],"alias_name":["gerodermia osteodysplastica","RAB6-interacting golgin"],"gene_symbol":"GORAB","hgnc_symbol":"GORAB","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:170501270-170522587","ensembl_id":"ENSG00000120370"}},"GRch38":{"90":{"location":"1:170532129-170553446","ensembl_id":"ENSG00000120370"}}},"hgnc_date_symbol_changed":"2009-02-13"},"entity_type":"gene","entity_name":"GORAB","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Geroderma osteodysplasticum"],"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"}]}}]}
