{"count":10,"next":null,"previous":null,"results":[{"gene_data":{"alias":["KIAA0725","SPG54"],"biotype":"protein_coding","hgnc_id":"HGNC:29106","gene_name":"DDHD domain containing 2","omim_gene":["615003"],"alias_name":null,"gene_symbol":"DDHD2","hgnc_symbol":"DDHD2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:38082736-38133076","ensembl_id":"ENSG00000085788"}},"GRch38":{"90":{"location":"8:38225218-38275558","ensembl_id":"ENSG00000085788"}}},"hgnc_date_symbol_changed":"2004-04-07"},"entity_type":"gene","entity_name":"DDHD2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green"],"phenotypes":["Autosomal recessive paraplegia 54 (#615033). Complex form of disease   ataxia reported amongst the phenotypic features in Citterio et al. (2014), Journal of Neurology, 261, pp.373-381 and Doi et al. (2014), Scientific Reports, 4, 7132."],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":477,"hash_id":null,"name":"Ataxia and cerebellar anomalies - narrow panel","disease_group":"","disease_sub_group":"","status":"public","version":"1.7","version_created":"2019-09-20T16:56:48.672242Z","relevant_disorders":[],"stats":{"number_of_genes":199,"number_of_strs":13,"number_of_regions":3},"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":["KIAA0725","SPG54"],"biotype":"protein_coding","hgnc_id":"HGNC:29106","gene_name":"DDHD domain containing 2","omim_gene":["615003"],"alias_name":null,"gene_symbol":"DDHD2","hgnc_symbol":"DDHD2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"8:38082736-38133076","ensembl_id":"ENSG00000085788"}},"GRch38":{"90":{"location":"8:38225218-38275558","ensembl_id":"ENSG00000085788"}}},"hgnc_date_symbol_changed":"2004-04-07"},"entity_type":"gene","entity_name":"DDHD2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Autosomal recessive paraplegia 54 (#615033). Complex form of disease   ataxia reported amongst the phenotypic features in Citterio et al. (2014), Journal of Neurology, 261, pp.373-381 and Doi et al. (2014), Scientific Reports, 4, 7132."],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":20,"hash_id":"559a7d1022c1fc58ad67fc97","name":"Hereditary ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Motor Disorders of the CNS","status":"public","version":"1.202","version_created":"2019-06-20T15:15:07.878228Z","relevant_disorders":[],"stats":{"number_of_genes":160,"number_of_strs":14,"number_of_regions":3},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["KIAA0725","SPG54"],"biotype":"protein_coding","hgnc_id":"HGNC:29106","gene_name":"DDHD domain containing 2","omim_gene":["615003"],"alias_name":null,"gene_symbol":"DDHD2","hgnc_symbol":"DDHD2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"8:38082736-38133076","ensembl_id":"ENSG00000085788"}},"GRch38":{"90":{"location":"8:38225218-38275558","ensembl_id":"ENSG00000085788"}}},"hgnc_date_symbol_changed":"2004-04-07"},"entity_type":"gene","entity_name":"DDHD2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["Schuurs-Hoeijmakers et al. (2012)"],"evidence":["Expert Review Green","Expert list","Radboud University Medical Center, Nijmegen"],"phenotypes":["Spastic paraplegia 54, autosomal recessive"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":165,"hash_id":"55ad019f22c1fc7042059038","name":"Hereditary spastic paraplegia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Motor Disorders of the CNS","status":"public","version":"1.205","version_created":"2019-06-20T15:15:08.031188Z","relevant_disorders":[],"stats":{"number_of_genes":109,"number_of_strs":10,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["KIAA0725","SPG54"],"biotype":"protein_coding","hgnc_id":"HGNC:29106","gene_name":"DDHD domain containing 2","omim_gene":["615003"],"alias_name":null,"gene_symbol":"DDHD2","hgnc_symbol":"DDHD2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:38082736-38133076","ensembl_id":"ENSG00000085788"}},"GRch38":{"90":{"location":"8:38225218-38275558","ensembl_id":"ENSG00000085788"}}},"hgnc_date_symbol_changed":"2004-04-07"},"entity_type":"gene","entity_name":"DDHD2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23176823","23486545","25417924"],"evidence":["Yorkshire and North East GLH","NHS GMS","London North GLH","Expert Review Green","Expert list","Radboud University Medical Center, Nijmegen"],"phenotypes":["Spastic paraplegia 54, autosomal recessive, 615033"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":568,"hash_id":null,"name":"Hereditary spastic paraplegia - childhood onset","disease_group":"","disease_sub_group":"","status":"public","version":"1.179","version_created":"2019-09-30T12:40:08.803161Z","relevant_disorders":["Childhood onset hereditary spastic paraplegia;R61"],"stats":{"number_of_genes":98,"number_of_strs":10,"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":["KIAA0725","SPG54"],"biotype":"protein_coding","hgnc_id":"HGNC:29106","gene_name":"DDHD domain containing 2","omim_gene":["615003"],"alias_name":null,"gene_symbol":"DDHD2","hgnc_symbol":"DDHD2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:38082736-38133076","ensembl_id":"ENSG00000085788"}},"GRch38":{"90":{"location":"8:38225218-38275558","ensembl_id":"ENSG00000085788"}}},"hgnc_date_symbol_changed":"2004-04-07"},"entity_type":"gene","entity_name":"DDHD2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23176823","23486545","25417924"],"evidence":["Yorkshire and North East GLH","Expert Review Green","NHS GMS","London North GLH"],"phenotypes":["Spastic paraplegia 54, autosomal recessive, 615033"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":567,"hash_id":null,"name":"Hereditary spastic paraplegia - adult onset","disease_group":"","disease_sub_group":"","status":"public","version":"0.156","version_created":"2019-09-30T12:38:14.427158Z","relevant_disorders":["R60"],"stats":{"number_of_genes":97,"number_of_strs":10,"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)"}]}},{"gene_data":{"alias":["KIAA0725","SPG54"],"biotype":"protein_coding","hgnc_id":"HGNC:29106","gene_name":"DDHD domain containing 2","omim_gene":["615003"],"alias_name":null,"gene_symbol":"DDHD2","hgnc_symbol":"DDHD2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:38082736-38133076","ensembl_id":"ENSG00000085788"}},"GRch38":{"90":{"location":"8:38225218-38275558","ensembl_id":"ENSG00000085788"}}},"hgnc_date_symbol_changed":"2004-04-07"},"entity_type":"gene","entity_name":"DDHD2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["Schuurs-Hoeijmakers et al. (2012)"],"evidence":["Expert Review Red","Wessex and West Midlands GLH","Yorkshire and North East GLH","NHS GMS","London North GLH"],"phenotypes":["Autosomal recessive paraplegia 54 (#615033). Complex form of disease   ataxia reported amongst the phenotypic features in Citterio et al. (2014), Journal of Neurology, 261, pp.373-381 and Doi et al. (2014), Scientific Reports, 4, 7132.","Spastic paraplegia 54, autosomal recessive"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":474,"hash_id":null,"name":"Neurodegenerative disorders - adult onset","disease_group":"","disease_sub_group":"","status":"public","version":"1.106","version_created":"2019-09-20T16:19:10.101841Z","relevant_disorders":["R58"],"stats":{"number_of_genes":395,"number_of_strs":18,"number_of_regions":4},"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":["KIAA0725","SPG54"],"biotype":"protein_coding","hgnc_id":"HGNC:29106","gene_name":"DDHD domain containing 2","omim_gene":["615003"],"alias_name":null,"gene_symbol":"DDHD2","hgnc_symbol":"DDHD2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:38082736-38133076","ensembl_id":"ENSG00000085788"}},"GRch38":{"90":{"location":"8:38225218-38275558","ensembl_id":"ENSG00000085788"}}},"hgnc_date_symbol_changed":"2004-04-07"},"entity_type":"gene","entity_name":"DDHD2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","PAGE DD-Gene2Phenotype"],"phenotypes":["COMPLEX HEREDITARY SPASTIC PARAPLEGIA"],"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":["KIAA0725","SPG54"],"biotype":"protein_coding","hgnc_id":"HGNC:29106","gene_name":"DDHD domain containing 2","omim_gene":["615003"],"alias_name":null,"gene_symbol":"DDHD2","hgnc_symbol":"DDHD2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:38082736-38133076","ensembl_id":"ENSG00000085788"}},"GRch38":{"90":{"location":"8:38225218-38275558","ensembl_id":"ENSG00000085788"}}},"hgnc_date_symbol_changed":"2004-04-07"},"entity_type":"gene","entity_name":"DDHD2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23176823"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["COMPLEX HEREDITARY SPASTIC PARAPLEGIA 615033"],"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":["KIAA0725","SPG54"],"biotype":"protein_coding","hgnc_id":"HGNC:29106","gene_name":"DDHD domain containing 2","omim_gene":["615003"],"alias_name":null,"gene_symbol":"DDHD2","hgnc_symbol":"DDHD2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"8:38082736-38133076","ensembl_id":"ENSG00000085788"}},"GRch38":{"90":{"location":"8:38225218-38275558","ensembl_id":"ENSG00000085788"}}},"hgnc_date_symbol_changed":"2004-04-07"},"entity_type":"gene","entity_name":"DDHD2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen"],"phenotypes":["Spastic paraplegia 54, autosomal recessive, 615033","COMPLEX HEREDITARY SPASTIC PARAPLEGIA"],"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"}]}},{"gene_data":{"alias":["KIAA0725","SPG54"],"biotype":"protein_coding","hgnc_id":"HGNC:29106","gene_name":"DDHD domain containing 2","omim_gene":["615003"],"alias_name":null,"gene_symbol":"DDHD2","hgnc_symbol":"DDHD2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:38082736-38133076","ensembl_id":"ENSG00000085788"}},"GRch38":{"90":{"location":"8:38225218-38275558","ensembl_id":"ENSG00000085788"}}},"hgnc_date_symbol_changed":"2004-04-07"},"entity_type":"gene","entity_name":"DDHD2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Wessex and West Midlands GLH","Expert Review Green","Hereditary ataxia v1.148"],"phenotypes":["Spastic paraplegia 54","Autosomal recessive paraplegia 54 (#615033). Complex form of disease ataxia reported amongst the phenotypic features in Citterio et al. (2014), Journal of Neurology, 261, pp.373-381 and Doi et al. (2014), Scientific Reports, 4, 7132."],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":466,"hash_id":null,"name":"Hereditary ataxia - adult onset","disease_group":"","disease_sub_group":"","status":"public","version":"1.211","version_created":"2019-09-20T14:18:40.957460Z","relevant_disorders":["Hereditary ataxia with onset in adulthood","R54"],"stats":{"number_of_genes":236,"number_of_strs":13,"number_of_regions":4},"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."}]}}]}