{"count":8,"next":null,"previous":null,"results":[{"gene_data":{"alias":["PAHX","RD","PHYH1"],"biotype":"protein_coding","hgnc_id":"HGNC:8940","gene_name":"phytanoyl-CoA 2-hydroxylase","omim_gene":["602026"],"alias_name":["Refsum disease","phytanoyl-CoA dioxygenase"],"gene_symbol":"PHYH","hgnc_symbol":"PHYH","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"10:13319796-13344412","ensembl_id":"ENSG00000107537"}},"GRch38":{"90":{"location":"10:13277796-13302412","ensembl_id":"ENSG00000107537"}}},"hgnc_date_symbol_changed":"1997-10-27"},"entity_type":"gene","entity_name":"PHYH","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Emory Genetics Laboratory","UKGTN","Expert list","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Refsum disease, 266500"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":114,"hash_id":"57b6f5058f6203767a308772","name":"Peroxisomal disorders","disease_group":"Metabolic disorders","disease_sub_group":"Peroxisomal disorders","status":"public","version":"1.6","version_created":"2017-11-05T02:37:20.056128Z","relevant_disorders":["Other peroxisomal disorders","Peroxisomal biogenesis disorders"],"stats":{"number_of_genes":37,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["PAHX","RD","PHYH1"],"biotype":"protein_coding","hgnc_id":"HGNC:8940","gene_name":"phytanoyl-CoA 2-hydroxylase","omim_gene":["602026"],"alias_name":["Refsum disease","phytanoyl-CoA dioxygenase"],"gene_symbol":"PHYH","hgnc_symbol":"PHYH","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"10:13319796-13344412","ensembl_id":"ENSG00000107537"}},"GRch38":{"90":{"location":"10:13277796-13302412","ensembl_id":"ENSG00000107537"}}},"hgnc_date_symbol_changed":"1997-10-27"},"entity_type":"gene","entity_name":"PHYH","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":["PAHX","RD","PHYH1"],"biotype":"protein_coding","hgnc_id":"HGNC:8940","gene_name":"phytanoyl-CoA 2-hydroxylase","omim_gene":["602026"],"alias_name":["Refsum disease","phytanoyl-CoA dioxygenase"],"gene_symbol":"PHYH","hgnc_symbol":"PHYH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:13319796-13344412","ensembl_id":"ENSG00000107537"}},"GRch38":{"90":{"location":"10:13277796-13302412","ensembl_id":"ENSG00000107537"}}},"hgnc_date_symbol_changed":"1997-10-27"},"entity_type":"gene","entity_name":"PHYH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Refsum disease"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":556,"hash_id":null,"name":"Palmoplantar keratodermas","disease_group":"","disease_sub_group":"","status":"public","version":"0.9","version_created":"2019-09-09T15:38:38.871976Z","relevant_disorders":[],"stats":{"number_of_genes":69,"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":["PAHX","RD","PHYH1"],"biotype":"protein_coding","hgnc_id":"HGNC:8940","gene_name":"phytanoyl-CoA 2-hydroxylase","omim_gene":["602026"],"alias_name":["Refsum disease","phytanoyl-CoA dioxygenase"],"gene_symbol":"PHYH","hgnc_symbol":"PHYH","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"10:13319796-13344412","ensembl_id":"ENSG00000107537"}},"GRch38":{"90":{"location":"10:13277796-13302412","ensembl_id":"ENSG00000107537"}}},"hgnc_date_symbol_changed":"1997-10-27"},"entity_type":"gene","entity_name":"PHYH","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27604308"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Refsum  disease (Disorders of peroxisomal alpha-, beta and omega-oxidation)","Refsum disease, 266500"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":302,"hash_id":"5763f1518f620350a22bccdb","name":"Undiagnosed metabolic disorders","disease_group":"Metabolic disorders","disease_sub_group":"Specific metabolic abnormalities","status":"public","version":"1.373","version_created":"2019-10-08T14:47:17.153678Z","relevant_disorders":["Undiagnosed Metabolic Panel"],"stats":{"number_of_genes":744,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["PAHX","RD","PHYH1"],"biotype":"protein_coding","hgnc_id":"HGNC:8940","gene_name":"phytanoyl-CoA 2-hydroxylase","omim_gene":["602026"],"alias_name":["Refsum disease","phytanoyl-CoA dioxygenase"],"gene_symbol":"PHYH","hgnc_symbol":"PHYH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:13319796-13344412","ensembl_id":"ENSG00000107537"}},"GRch38":{"90":{"location":"10:13277796-13302412","ensembl_id":"ENSG00000107537"}}},"hgnc_date_symbol_changed":"1997-10-27"},"entity_type":"gene","entity_name":"PHYH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308"],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Refsum disease, 266500","Refsum  disease (Disorders of peroxisomal alpha-, beta and omega-oxidation)"],"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":["PAHX","RD","PHYH1"],"biotype":"protein_coding","hgnc_id":"HGNC:8940","gene_name":"phytanoyl-CoA 2-hydroxylase","omim_gene":["602026"],"alias_name":["Refsum disease","phytanoyl-CoA dioxygenase"],"gene_symbol":"PHYH","hgnc_symbol":"PHYH","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"10:13319796-13344412","ensembl_id":"ENSG00000107537"}},"GRch38":{"90":{"location":"10:13277796-13302412","ensembl_id":"ENSG00000107537"}}},"hgnc_date_symbol_changed":"1997-10-27"},"entity_type":"gene","entity_name":"PHYH","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","London North GLH","Expert Review Green","UKGTN","Emory Genetics Laboratory"],"phenotypes":["Hereditary Neuropathies"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":85,"hash_id":"55ad205422c1fc7041340234","name":"Hereditary neuropathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Motor and Sensory Disorders of the PNS","status":"public","version":"1.333","version_created":"2019-07-09T13:10:50.031506Z","relevant_disorders":["Charcot-Marie-Tooth disease"],"stats":{"number_of_genes":276,"number_of_strs":11,"number_of_regions":2},"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":["PAHX","RD","PHYH1"],"biotype":"protein_coding","hgnc_id":"HGNC:8940","gene_name":"phytanoyl-CoA 2-hydroxylase","omim_gene":["602026"],"alias_name":["Refsum disease","phytanoyl-CoA dioxygenase"],"gene_symbol":"PHYH","hgnc_symbol":"PHYH","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"10:13319796-13344412","ensembl_id":"ENSG00000107537"}},"GRch38":{"90":{"location":"10:13277796-13302412","ensembl_id":"ENSG00000107537"}}},"hgnc_date_symbol_changed":"1997-10-27"},"entity_type":"gene","entity_name":"PHYH","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green"],"phenotypes":["Eye Disorders","Refsum disease"],"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":["PAHX","RD","PHYH1"],"biotype":"protein_coding","hgnc_id":"HGNC:8940","gene_name":"phytanoyl-CoA 2-hydroxylase","omim_gene":["602026"],"alias_name":["Refsum disease","phytanoyl-CoA dioxygenase"],"gene_symbol":"PHYH","hgnc_symbol":"PHYH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:13319796-13344412","ensembl_id":"ENSG00000107537"}},"GRch38":{"90":{"location":"10:13277796-13302412","ensembl_id":"ENSG00000107537"}}},"hgnc_date_symbol_changed":"1997-10-27"},"entity_type":"gene","entity_name":"PHYH","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Red"],"phenotypes":["Refsum disease, 266500","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)"}]}}]}