{"count":15,"next":null,"previous":null,"results":[{"gene_data":{"alias":["IGDS","RS","Brx1","Otlx2","ARP1"],"biotype":"protein_coding","hgnc_id":"HGNC:9005","gene_name":"paired like homeodomain 2","omim_gene":["601542"],"alias_name":null,"gene_symbol":"PITX2","hgnc_symbol":"PITX2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"4:111538579-111563279","ensembl_id":"ENSG00000164093"}},"GRch38":{"90":{"location":"4:110617423-110642123","ensembl_id":"ENSG00000164093"}}},"hgnc_date_symbol_changed":"1992-10-05"},"entity_type":"gene","entity_name":"PITX2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["8944018","9685346","18723525","9618168","10051017","11487566"],"evidence":["Expert Review Green","Emory Genetics Laboratory"],"phenotypes":["Anterior segment dysgenesis 4 \t137600","Axenfeld-Rieger syndrome, type 1 \t180500"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["IGDS","RS","Brx1","Otlx2","ARP1"],"biotype":"protein_coding","hgnc_id":"HGNC:9005","gene_name":"paired like homeodomain 2","omim_gene":["601542"],"alias_name":null,"gene_symbol":"PITX2","hgnc_symbol":"PITX2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"4:111538579-111563279","ensembl_id":"ENSG00000164093"}},"GRch38":{"90":{"location":"4:110617423-110642123","ensembl_id":"ENSG00000164093"}}},"hgnc_date_symbol_changed":"1992-10-05"},"entity_type":"gene","entity_name":"PITX2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Emory Genetics Laboratory"],"phenotypes":["AXENFELD-RIEGER SYNDROME"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":131,"hash_id":"553f9744bb5a1616e5ed45e8","name":"IUGR and IGF abnormalities","disease_group":"Endocrine disorders","disease_sub_group":"Growth hormone disorders","status":"public","version":"1.29","version_created":"2019-08-05T14:01:03.716110Z","relevant_disorders":[],"stats":{"number_of_genes":110,"number_of_strs":0,"number_of_regions":5},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["IGDS","RS","Brx1","Otlx2","ARP1"],"biotype":"protein_coding","hgnc_id":"HGNC:9005","gene_name":"paired like homeodomain 2","omim_gene":["601542"],"alias_name":null,"gene_symbol":"PITX2","hgnc_symbol":"PITX2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:111538579-111563279","ensembl_id":"ENSG00000164093"}},"GRch38":{"90":{"location":"4:110617423-110642123","ensembl_id":"ENSG00000164093"}}},"hgnc_date_symbol_changed":"1992-10-05"},"entity_type":"gene","entity_name":"PITX2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Literature","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen","Emory Genetics Laboratory"],"phenotypes":["Axenfeld-Rieger syndrome, type 1 (180500)","Anterior segment dysgenesis 4 (137600)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":483,"hash_id":null,"name":"Pituitary hormone deficiency","disease_group":"","disease_sub_group":"","status":"public","version":"2.0","version_created":"2019-07-31T14:30:21.964840Z","relevant_disorders":["R159"],"stats":{"number_of_genes":50,"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."},{"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":["IGDS","RS","Brx1","Otlx2","ARP1"],"biotype":"protein_coding","hgnc_id":"HGNC:9005","gene_name":"paired like homeodomain 2","omim_gene":["601542"],"alias_name":null,"gene_symbol":"PITX2","hgnc_symbol":"PITX2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"4:111538579-111563279","ensembl_id":"ENSG00000164093"}},"GRch38":{"90":{"location":"4:110617423-110642123","ensembl_id":"ENSG00000164093"}}},"hgnc_date_symbol_changed":"1992-10-05"},"entity_type":"gene","entity_name":"PITX2","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","UKGTN","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Cataracts"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["IGDS","RS","Brx1","Otlx2","ARP1"],"biotype":"protein_coding","hgnc_id":"HGNC:9005","gene_name":"paired like homeodomain 2","omim_gene":["601542"],"alias_name":null,"gene_symbol":"PITX2","hgnc_symbol":"PITX2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:111538579-111563279","ensembl_id":"ENSG00000164093"}},"GRch38":{"90":{"location":"4:110617423-110642123","ensembl_id":"ENSG00000164093"}}},"hgnc_date_symbol_changed":"1992-10-05"},"entity_type":"gene","entity_name":"PITX2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["21423868","27124303"],"evidence":["Expert Review Amber","Wessex and West Midlands GLH"],"phenotypes":[],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":510,"hash_id":null,"name":"Aniridia","disease_group":"","disease_sub_group":"","status":"public","version":"2.0","version_created":"2019-08-01T09:21:35.243373Z","relevant_disorders":["R38"],"stats":{"number_of_genes":6,"number_of_strs":0,"number_of_regions":1},"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":"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":["IGDS","RS","Brx1","Otlx2","ARP1"],"biotype":"protein_coding","hgnc_id":"HGNC:9005","gene_name":"paired like homeodomain 2","omim_gene":["601542"],"alias_name":null,"gene_symbol":"PITX2","hgnc_symbol":"PITX2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"4:111538579-111563279","ensembl_id":"ENSG00000164093"}},"GRch38":{"90":{"location":"4:110617423-110642123","ensembl_id":"ENSG00000164093"}}},"hgnc_date_symbol_changed":"1992-10-05"},"entity_type":"gene","entity_name":"PITX2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Anterior segment dysgenesis 4 \t137600 \tAD","Axenfeld-Rieger syndrome, type 1 \t180500 \tAD","Ring dermoid of cornea \t180550"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["IGDS","RS","Brx1","Otlx2","ARP1"],"biotype":"protein_coding","hgnc_id":"HGNC:9005","gene_name":"paired like homeodomain 2","omim_gene":["601542"],"alias_name":null,"gene_symbol":"PITX2","hgnc_symbol":"PITX2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:111538579-111563279","ensembl_id":"ENSG00000164093"}},"GRch38":{"90":{"location":"4:110617423-110642123","ensembl_id":"ENSG00000164093"}}},"hgnc_date_symbol_changed":"1992-10-05"},"entity_type":"gene","entity_name":"PITX2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["PAGE DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["RING DERMOID OF CORNEA","IRIDOGONIODYSGENESIS TYPE 2","AXENFELD-RIEGER SYNDROME TYPE 1","PETERS ANOMALY"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["IGDS","RS","Brx1","Otlx2","ARP1"],"biotype":"protein_coding","hgnc_id":"HGNC:9005","gene_name":"paired like homeodomain 2","omim_gene":["601542"],"alias_name":null,"gene_symbol":"PITX2","hgnc_symbol":"PITX2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"4:111538579-111563279","ensembl_id":"ENSG00000164093"}},"GRch38":{"90":{"location":"4:110617423-110642123","ensembl_id":"ENSG00000164093"}}},"hgnc_date_symbol_changed":"1992-10-05"},"entity_type":"gene","entity_name":"PITX2","confidence_level":"0","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Removed","Emory Genetics Laboratory"],"phenotypes":["Proportionate Short Stature/Small for Gestational Age"],"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":["IGDS","RS","Brx1","Otlx2","ARP1"],"biotype":"protein_coding","hgnc_id":"HGNC:9005","gene_name":"paired like homeodomain 2","omim_gene":["601542"],"alias_name":null,"gene_symbol":"PITX2","hgnc_symbol":"PITX2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:111538579-111563279","ensembl_id":"ENSG00000164093"}},"GRch38":{"90":{"location":"4:110617423-110642123","ensembl_id":"ENSG00000164093"}}},"hgnc_date_symbol_changed":"1992-10-05"},"entity_type":"gene","entity_name":"PITX2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["8944018","11301317","11487566"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["AXENFELD-RIEGER SYNDROME TYPE 1 180500","PETERS ANOMALY 604229","RING DERMOID OF CORNEA 180550","IRIDOGONIODYSGENESIS TYPE 2 137600"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["IGDS","RS","Brx1","Otlx2","ARP1"],"biotype":"protein_coding","hgnc_id":"HGNC:9005","gene_name":"paired like homeodomain 2","omim_gene":["601542"],"alias_name":null,"gene_symbol":"PITX2","hgnc_symbol":"PITX2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"4:111538579-111563279","ensembl_id":"ENSG00000164093"}},"GRch38":{"90":{"location":"4:110617423-110642123","ensembl_id":"ENSG00000164093"}}},"hgnc_date_symbol_changed":"1992-10-05"},"entity_type":"gene","entity_name":"PITX2","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Emory Genetics Laboratory"],"phenotypes":["hearing loss"],"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":["IGDS","RS","Brx1","Otlx2","ARP1"],"biotype":"protein_coding","hgnc_id":"HGNC:9005","gene_name":"paired like homeodomain 2","omim_gene":["601542"],"alias_name":null,"gene_symbol":"PITX2","hgnc_symbol":"PITX2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"4:111538579-111563279","ensembl_id":"ENSG00000164093"}},"GRch38":{"90":{"location":"4:110617423-110642123","ensembl_id":"ENSG00000164093"}}},"hgnc_date_symbol_changed":"1992-10-05"},"entity_type":"gene","entity_name":"PITX2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Emory Genetics Laboratory"],"phenotypes":[],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":34,"hash_id":"553f97abbb5a1616e5ed45f9","name":"Anophthalmia or microphthalmia","disease_group":"Ophthalmological disorders","disease_sub_group":"Ocular malformations","status":"public","version":"1.21","version_created":"2019-06-20T15:14:55.669056Z","relevant_disorders":["Anophthalmia or microphthamia","Anophthalmia/microphthamia","Anophthalmia/microphthalmia"],"stats":{"number_of_genes":58,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["IGDS","RS","Brx1","Otlx2","ARP1"],"biotype":"protein_coding","hgnc_id":"HGNC:9005","gene_name":"paired like homeodomain 2","omim_gene":["601542"],"alias_name":null,"gene_symbol":"PITX2","hgnc_symbol":"PITX2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:111538579-111563279","ensembl_id":"ENSG00000164093"}},"GRch38":{"90":{"location":"4:110617423-110642123","ensembl_id":"ENSG00000164093"}}},"hgnc_date_symbol_changed":"1992-10-05"},"entity_type":"gene","entity_name":"PITX2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red"],"phenotypes":["AXENFELD-RIEGER SYNDROME"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":473,"hash_id":null,"name":"Growth failure in early childhood","disease_group":"","disease_sub_group":"","status":"public","version":"1.3","version_created":"2019-08-14T09:11:49.488162Z","relevant_disorders":["R147"],"stats":{"number_of_genes":126,"number_of_strs":0,"number_of_regions":5},"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":"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":["IGDS","RS","Brx1","Otlx2","ARP1"],"biotype":"protein_coding","hgnc_id":"HGNC:9005","gene_name":"paired like homeodomain 2","omim_gene":["601542"],"alias_name":null,"gene_symbol":"PITX2","hgnc_symbol":"PITX2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"4:111538579-111563279","ensembl_id":"ENSG00000164093"}},"GRch38":{"90":{"location":"4:110617423-110642123","ensembl_id":"ENSG00000164093"}}},"hgnc_date_symbol_changed":"1992-10-05"},"entity_type":"gene","entity_name":"PITX2","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Axenfeld-Rieger syndrome, type 1, 180500","Iridogoniodysgenesis, type 2, 137600","Ring dermoid of cornea, 180550","Peters anomaly, 604229"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["IGDS","RS","Brx1","Otlx2","ARP1"],"biotype":"protein_coding","hgnc_id":"HGNC:9005","gene_name":"paired like homeodomain 2","omim_gene":["601542"],"alias_name":null,"gene_symbol":"PITX2","hgnc_symbol":"PITX2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"4:111538579-111563279","ensembl_id":"ENSG00000164093"}},"GRch38":{"90":{"location":"4:110617423-110642123","ensembl_id":"ENSG00000164093"}}},"hgnc_date_symbol_changed":"1992-10-05"},"entity_type":"gene","entity_name":"PITX2","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":["IGDS","RS","Brx1","Otlx2","ARP1"],"biotype":"protein_coding","hgnc_id":"HGNC:9005","gene_name":"paired like homeodomain 2","omim_gene":["601542"],"alias_name":null,"gene_symbol":"PITX2","hgnc_symbol":"PITX2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:111538579-111563279","ensembl_id":"ENSG00000164093"}},"GRch38":{"90":{"location":"4:110617423-110642123","ensembl_id":"ENSG00000164093"}}},"hgnc_date_symbol_changed":"1992-10-05"},"entity_type":"gene","entity_name":"PITX2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other - please provide details in the comments","publications":["9685346","18723525","11487566","9618168","10051017","8944018"],"evidence":["NHS GMS","Expert Review Green"],"phenotypes":["Axenfeld-Rieger syndrome, type 1 180500","Anterior segment dysgenesis 4 137600"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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)"}]}}]}
