{"count":7,"next":null,"previous":null,"results":[{"gene_data":{"alias":["LCB1","SPTI","HSAN1","hLCB1"],"biotype":"protein_coding","hgnc_id":"HGNC:11277","gene_name":"serine palmitoyltransferase long chain base subunit 1","omim_gene":["605712"],"alias_name":null,"gene_symbol":"SPTLC1","hgnc_symbol":"SPTLC1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"9:94794281-94877666","ensembl_id":"ENSG00000090054"}},"GRch38":{"90":{"location":"9:92031999-92115384","ensembl_id":"ENSG00000090054"}}},"hgnc_date_symbol_changed":"2000-07-31"},"entity_type":"gene","entity_name":"SPTLC1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["19651702","11242114","19132419"],"evidence":["Expert Review Green","UKGTN","Radboud University Medical Center, Nijmegen","Emory Genetics Laboratory","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Neuropathy, hereditary sensory and autonomic, type IA\t162400"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":7,"hash_id":"5763f1d68f620350a22bccdc","name":"Familial dysautonomia","disease_group":"","disease_sub_group":"","status":"public","version":"1.7","version_created":"2019-07-09T09:43:16.135987Z","relevant_disorders":[],"stats":{"number_of_genes":22,"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":["LCB1","SPTI","HSAN1","hLCB1"],"biotype":"protein_coding","hgnc_id":"HGNC:11277","gene_name":"serine palmitoyltransferase long chain base subunit 1","omim_gene":["605712"],"alias_name":null,"gene_symbol":"SPTLC1","hgnc_symbol":"SPTLC1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"9:94794281-94877666","ensembl_id":"ENSG00000090054"}},"GRch38":{"90":{"location":"9:92031999-92115384","ensembl_id":"ENSG00000090054"}}},"hgnc_date_symbol_changed":"2000-07-31"},"entity_type":"gene","entity_name":"SPTLC1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["11242106","15037712","11242114"],"evidence":["Expert Review Green","BRIDGE Study Tier 1 Gene"],"phenotypes":["Hereditary sensory neuropathy type IA","HSAN 1","Neuropathy, hereditary sensory and autonomic, type IA, 162400"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":288,"hash_id":"59621a1c8f62036f45d561a3","name":"Pain syndromes","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Channelopathies","status":"public","version":"1.8","version_created":"2019-10-08T10:46:35.875259Z","relevant_disorders":["neuropathic pain","Pain channelopathies"],"stats":{"number_of_genes":26,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["LCB1","SPTI","HSAN1","hLCB1"],"biotype":"protein_coding","hgnc_id":"HGNC:11277","gene_name":"serine palmitoyltransferase long chain base subunit 1","omim_gene":["605712"],"alias_name":null,"gene_symbol":"SPTLC1","hgnc_symbol":"SPTLC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:94794281-94877666","ensembl_id":"ENSG00000090054"}},"GRch38":{"90":{"location":"9:92031999-92115384","ensembl_id":"ENSG00000090054"}}},"hgnc_date_symbol_changed":"2000-07-31"},"entity_type":"gene","entity_name":"SPTLC1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["11242114","15037712","11242106"],"evidence":["Expert Review Red","NHS GMS","London North GLH","Wessex and West Midlands GLH"],"phenotypes":["HSAN 1","Neuropathy, hereditary sensory and autonomic, type IA, 162400","Hereditary sensory neuropathy type IA"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":541,"hash_id":null,"name":"Paroxysmal central nervous system disorders","disease_group":"","disease_sub_group":"","status":"public","version":"0.168","version_created":"2019-10-01T13:39:46.962209Z","relevant_disorders":["Paroxysmal neurological disorders","pain disorders and sleep disorders"],"stats":{"number_of_genes":83,"number_of_strs":5,"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)"}]}},{"gene_data":{"alias":["LCB1","SPTI","HSAN1","hLCB1"],"biotype":"protein_coding","hgnc_id":"HGNC:11277","gene_name":"serine palmitoyltransferase long chain base subunit 1","omim_gene":["605712"],"alias_name":null,"gene_symbol":"SPTLC1","hgnc_symbol":"SPTLC1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"9:94794281-94877666","ensembl_id":"ENSG00000090054"}},"GRch38":{"90":{"location":"9:92031999-92115384","ensembl_id":"ENSG00000090054"}}},"hgnc_date_symbol_changed":"2000-07-31"},"entity_type":"gene","entity_name":"SPTLC1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27604308","20097765","21618344","20097765","30420926"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis)","Charcot-Marie-Tooth disease","Familial dysautonomia"],"mode_of_inheritance":"BOTH monoallelic and 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":["LCB1","SPTI","HSAN1","hLCB1"],"biotype":"protein_coding","hgnc_id":"HGNC:11277","gene_name":"serine palmitoyltransferase long chain base subunit 1","omim_gene":["605712"],"alias_name":null,"gene_symbol":"SPTLC1","hgnc_symbol":"SPTLC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:94794281-94877666","ensembl_id":"ENSG00000090054"}},"GRch38":{"90":{"location":"9:92031999-92115384","ensembl_id":"ENSG00000090054"}}},"hgnc_date_symbol_changed":"2000-07-31"},"entity_type":"gene","entity_name":"SPTLC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308","20097765","21618344","20097765","30420926"],"evidence":["Expert Review Green","London North GLH","NHS GMS"],"phenotypes":["Charcot-Marie-Tooth disease","Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis)","Familial dysautonomia"],"mode_of_inheritance":"BOTH monoallelic and 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":["LCB1","SPTI","HSAN1","hLCB1"],"biotype":"protein_coding","hgnc_id":"HGNC:11277","gene_name":"serine palmitoyltransferase long chain base subunit 1","omim_gene":["605712"],"alias_name":null,"gene_symbol":"SPTLC1","hgnc_symbol":"SPTLC1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"9:94794281-94877666","ensembl_id":"ENSG00000090054"}},"GRch38":{"90":{"location":"9:92031999-92115384","ensembl_id":"ENSG00000090054"}}},"hgnc_date_symbol_changed":"2000-07-31"},"entity_type":"gene","entity_name":"SPTLC1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["16216550","20097765"],"evidence":["South West GLH","NHS GMS","London North GLH","Expert Review Green","Emory Genetics Laboratory","UKGTN","Expert list","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen"],"phenotypes":["Hereditary Sensory and Autonomic Neuropathy, Type II","Neuropathy, hereditary sensory and autonomic, type IA, 162400","Hereditary Sensory and Autonomic Neuropathy, Type II","Neuropathy, hereditary sensory and autonomic, type IA, 162400"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["LCB1","SPTI","HSAN1","hLCB1"],"biotype":"protein_coding","hgnc_id":"HGNC:11277","gene_name":"serine palmitoyltransferase long chain base subunit 1","omim_gene":["605712"],"alias_name":null,"gene_symbol":"SPTLC1","hgnc_symbol":"SPTLC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:94794281-94877666","ensembl_id":"ENSG00000090054"}},"GRch38":{"90":{"location":"9:92031999-92115384","ensembl_id":"ENSG00000090054"}}},"hgnc_date_symbol_changed":"2000-07-31"},"entity_type":"gene","entity_name":"SPTLC1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"","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"}]}}]}
