{"count":17,"next":null,"previous":null,"results":[{"gene_data":{"alias":["NAG"],"biotype":"protein_coding","hgnc_id":"HGNC:7632","gene_name":"N-acetyl-alpha-glucosaminidase","omim_gene":["609701"],"alias_name":["Sanfilippo disease IIIB"],"gene_symbol":"NAGLU","hgnc_symbol":"NAGLU","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"17:40688190-40696467","ensembl_id":"ENSG00000108784"}},"GRch38":{"90":{"location":"17:42536172-42544449","ensembl_id":"ENSG00000108784"}}},"hgnc_date_symbol_changed":"1995-09-15"},"entity_type":"gene","entity_name":"NAGLU","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","UKGTN","Emory Genetics Laboratory","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen"],"phenotypes":["Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920","Mucopolysaccharidosis, Type III","Mucopolysaccharidosis Type IIIB","Mucopolysaccharidosis Type III","MUCOPOLYSACCHARIDOSIS TYPE 3B"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":75,"hash_id":"55bf939f22c1fc0fe45530c4","name":"Mucopolysaccharideosis, Gaucher, Fabry","disease_group":"Metabolic disorders","disease_sub_group":"Lysosomal storage disorders","status":"public","version":"1.2","version_created":"2017-11-05T02:37:19.973980Z","relevant_disorders":[],"stats":{"number_of_genes":18,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["NAG"],"biotype":"protein_coding","hgnc_id":"HGNC:7632","gene_name":"N-acetyl-alpha-glucosaminidase","omim_gene":["609701"],"alias_name":["Sanfilippo disease IIIB"],"gene_symbol":"NAGLU","hgnc_symbol":"NAGLU","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"17:40688190-40696467","ensembl_id":"ENSG00000108784"}},"GRch38":{"90":{"location":"17:42536172-42544449","ensembl_id":"ENSG00000108784"}}},"hgnc_date_symbol_changed":"1995-09-15"},"entity_type":"gene","entity_name":"NAGLU","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Emory Genetics Laboratory"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":267,"hash_id":"5548cc07bb5a16250cc22015","name":"Hyperammonaemia","disease_group":"Metabolic disorders","disease_sub_group":"Urea Cycle disorders","status":"public","version":"1.8","version_created":"2017-11-05T02:37:20.328985Z","relevant_disorders":[],"stats":{"number_of_genes":106,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["NAG"],"biotype":"protein_coding","hgnc_id":"HGNC:7632","gene_name":"N-acetyl-alpha-glucosaminidase","omim_gene":["609701"],"alias_name":["Sanfilippo disease IIIB"],"gene_symbol":"NAGLU","hgnc_symbol":"NAGLU","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:40688190-40696467","ensembl_id":"ENSG00000108784"}},"GRch38":{"90":{"location":"17:42536172-42544449","ensembl_id":"ENSG00000108784"}}},"hgnc_date_symbol_changed":"1995-09-15"},"entity_type":"gene","entity_name":"NAGLU","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"Other - please provide details in the comments ","publications":["PMID: 25818867"],"evidence":["Expert Review Red"],"phenotypes":["Sensory neuropathy turning into a mild sensory ataxia (AD). Also Sanfilippo syndrome B (AR) (OMIM #252920)"],"mode_of_inheritance":"BOTH monoallelic and 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":["NAG"],"biotype":"protein_coding","hgnc_id":"HGNC:7632","gene_name":"N-acetyl-alpha-glucosaminidase","omim_gene":["609701"],"alias_name":["Sanfilippo disease IIIB"],"gene_symbol":"NAGLU","hgnc_symbol":"NAGLU","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:40688190-40696467","ensembl_id":"ENSG00000108784"}},"GRch38":{"90":{"location":"17:42536172-42544449","ensembl_id":"ENSG00000108784"}}},"hgnc_date_symbol_changed":"1995-09-15"},"entity_type":"gene","entity_name":"NAGLU","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Wessex and West Midlands GLH","Expert Review Green","North London GLH"],"phenotypes":["Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":529,"hash_id":null,"name":"Lysosomal storage disorder","disease_group":"","disease_sub_group":"","status":"public","version":"1.0","version_created":"2019-09-17T11:32:47.666311Z","relevant_disorders":["R276"],"stats":{"number_of_genes":51,"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":"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":["NAG"],"biotype":"protein_coding","hgnc_id":"HGNC:7632","gene_name":"N-acetyl-alpha-glucosaminidase","omim_gene":["609701"],"alias_name":["Sanfilippo disease IIIB"],"gene_symbol":"NAGLU","hgnc_symbol":"NAGLU","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"17:40688190-40696467","ensembl_id":"ENSG00000108784"}},"GRch38":{"90":{"location":"17:42536172-42544449","ensembl_id":"ENSG00000108784"}}},"hgnc_date_symbol_changed":"1995-09-15"},"entity_type":"gene","entity_name":"NAGLU","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"Other - please provide details in the comments ","publications":["PMID: 25818867"],"evidence":["Expert Review Red","Expert review"],"phenotypes":["Sensory neuropathy turning into a mild sensory ataxia (AD). Also Sanfilippo syndrome B (AR) (OMIM #252920)"],"mode_of_inheritance":"BOTH monoallelic and 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":["NAG"],"biotype":"protein_coding","hgnc_id":"HGNC:7632","gene_name":"N-acetyl-alpha-glucosaminidase","omim_gene":["609701"],"alias_name":["Sanfilippo disease IIIB"],"gene_symbol":"NAGLU","hgnc_symbol":"NAGLU","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"17:40688190-40696467","ensembl_id":"ENSG00000108784"}},"GRch38":{"90":{"location":"17:42536172-42544449","ensembl_id":"ENSG00000108784"}}},"hgnc_date_symbol_changed":"1995-09-15"},"entity_type":"gene","entity_name":"NAGLU","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":["25818867","12202988"],"evidence":["Illumina TruGenome Clinical Sequencing Services","UKGTN","Emory Genetics Laboratory","Expert Review Amber","Review","Literaure"],"phenotypes":["Mucopolysaccharidosis type IIIB (Sanfilippo B), AR, 252920","Late-onset painful sensory neuropathy, AD"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","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":["NAG"],"biotype":"protein_coding","hgnc_id":"HGNC:7632","gene_name":"N-acetyl-alpha-glucosaminidase","omim_gene":["609701"],"alias_name":["Sanfilippo disease IIIB"],"gene_symbol":"NAGLU","hgnc_symbol":"NAGLU","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:40688190-40696467","ensembl_id":"ENSG00000108784"}},"GRch38":{"90":{"location":"17:42536172-42544449","ensembl_id":"ENSG00000108784"}}},"hgnc_date_symbol_changed":"1995-09-15"},"entity_type":"gene","entity_name":"NAGLU","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["12202988","25818867"],"evidence":["Expert Review Red","NHS GMS","London North GLH","Wessex and West Midlands GLH"],"phenotypes":["Mucopolysaccharidosis type IIIB (Sanfilippo B), AR, 252920","Late-onset painful sensory neuropathy, AD"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","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":["NAG"],"biotype":"protein_coding","hgnc_id":"HGNC:7632","gene_name":"N-acetyl-alpha-glucosaminidase","omim_gene":["609701"],"alias_name":["Sanfilippo disease IIIB"],"gene_symbol":"NAGLU","hgnc_symbol":"NAGLU","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"17:40688190-40696467","ensembl_id":"ENSG00000108784"}},"GRch38":{"90":{"location":"17:42536172-42544449","ensembl_id":"ENSG00000108784"}}},"hgnc_date_symbol_changed":"1995-09-15"},"entity_type":"gene","entity_name":"NAGLU","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen","Expert list","UKGTN","Emory Genetics Laboratory",""],"phenotypes":["Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920"],"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":["NAG"],"biotype":"protein_coding","hgnc_id":"HGNC:7632","gene_name":"N-acetyl-alpha-glucosaminidase","omim_gene":["609701"],"alias_name":["Sanfilippo disease IIIB"],"gene_symbol":"NAGLU","hgnc_symbol":"NAGLU","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:40688190-40696467","ensembl_id":"ENSG00000108784"}},"GRch38":{"90":{"location":"17:42536172-42544449","ensembl_id":"ENSG00000108784"}}},"hgnc_date_symbol_changed":"1995-09-15"},"entity_type":"gene","entity_name":"NAGLU","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["PMID: 25818867"],"evidence":["NHS GMS","Yorkshire and North East GLH","Expert Review Red"],"phenotypes":["Sensory neuropathy turning into a mild sensory ataxia (AD). Also Sanfilippo syndrome B (AR) (OMIM #252920)"],"mode_of_inheritance":"BOTH monoallelic and 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":["NAG"],"biotype":"protein_coding","hgnc_id":"HGNC:7632","gene_name":"N-acetyl-alpha-glucosaminidase","omim_gene":["609701"],"alias_name":["Sanfilippo disease IIIB"],"gene_symbol":"NAGLU","hgnc_symbol":"NAGLU","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"17:40688190-40696467","ensembl_id":"ENSG00000108784"}},"GRch38":{"90":{"location":"17:42536172-42544449","ensembl_id":"ENSG00000108784"}}},"hgnc_date_symbol_changed":"1995-09-15"},"entity_type":"gene","entity_name":"NAGLU","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27604308"],"evidence":["Expert Review Green","Literature"],"phenotypes":["MPS IIIB, Sanfilippo B disease (Mucopolysaccharidoses)","Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920","Mucopolysaccharidosis, Type III","Mucopolysaccharidosis Type IIIB","Mucopolysaccharidosis Type III","MUCOPOLYSACCHARIDOSIS TYPE 3B"],"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":["NAG"],"biotype":"protein_coding","hgnc_id":"HGNC:7632","gene_name":"N-acetyl-alpha-glucosaminidase","omim_gene":["609701"],"alias_name":["Sanfilippo disease IIIB"],"gene_symbol":"NAGLU","hgnc_symbol":"NAGLU","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:40688190-40696467","ensembl_id":"ENSG00000108784"}},"GRch38":{"90":{"location":"17:42536172-42544449","ensembl_id":"ENSG00000108784"}}},"hgnc_date_symbol_changed":"1995-09-15"},"entity_type":"gene","entity_name":"NAGLU","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308"],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Mucopolysaccharidosis Type III","Mucopolysaccharidosis, Type III","Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920","MPS IIIB, Sanfilippo B disease (Mucopolysaccharidoses)","MUCOPOLYSACCHARIDOSIS TYPE 3B","Mucopolysaccharidosis Type IIIB"],"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":["NAG"],"biotype":"protein_coding","hgnc_id":"HGNC:7632","gene_name":"N-acetyl-alpha-glucosaminidase","omim_gene":["609701"],"alias_name":["Sanfilippo disease IIIB"],"gene_symbol":"NAGLU","hgnc_symbol":"NAGLU","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:40688190-40696467","ensembl_id":"ENSG00000108784"}},"GRch38":{"90":{"location":"17:42536172-42544449","ensembl_id":"ENSG00000108784"}}},"hgnc_date_symbol_changed":"1995-09-15"},"entity_type":"gene","entity_name":"NAGLU","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","PAGE DD-Gene2Phenotype"],"phenotypes":["MUCOPOLYSACCHARIDOSIS TYPE 3B"],"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":["NAG"],"biotype":"protein_coding","hgnc_id":"HGNC:7632","gene_name":"N-acetyl-alpha-glucosaminidase","omim_gene":["609701"],"alias_name":["Sanfilippo disease IIIB"],"gene_symbol":"NAGLU","hgnc_symbol":"NAGLU","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:40688190-40696467","ensembl_id":"ENSG00000108784"}},"GRch38":{"90":{"location":"17:42536172-42544449","ensembl_id":"ENSG00000108784"}}},"hgnc_date_symbol_changed":"1995-09-15"},"entity_type":"gene","entity_name":"NAGLU","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12202988","11068184","10094189","9832037","8650226","21937992"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["MUCOPOLYSACCHARIDOSIS TYPE 3B 252920"],"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":["NAG"],"biotype":"protein_coding","hgnc_id":"HGNC:7632","gene_name":"N-acetyl-alpha-glucosaminidase","omim_gene":["609701"],"alias_name":["Sanfilippo disease IIIB"],"gene_symbol":"NAGLU","hgnc_symbol":"NAGLU","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"17:40688190-40696467","ensembl_id":"ENSG00000108784"}},"GRch38":{"90":{"location":"17:42536172-42544449","ensembl_id":"ENSG00000108784"}}},"hgnc_date_symbol_changed":"1995-09-15"},"entity_type":"gene","entity_name":"NAGLU","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["25818867"],"evidence":["NHS GMS","South West GLH","Expert Review Red","Expert Review"],"phenotypes":["?Charcot-Marie-Tooth disease, axonal, type 2V, 616491"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["NAG"],"biotype":"protein_coding","hgnc_id":"HGNC:7632","gene_name":"N-acetyl-alpha-glucosaminidase","omim_gene":["609701"],"alias_name":["Sanfilippo disease IIIB"],"gene_symbol":"NAGLU","hgnc_symbol":"NAGLU","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"17:40688190-40696467","ensembl_id":"ENSG00000108784"}},"GRch38":{"90":{"location":"17:42536172-42544449","ensembl_id":"ENSG00000108784"}}},"hgnc_date_symbol_changed":"1995-09-15"},"entity_type":"gene","entity_name":"NAGLU","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen"],"phenotypes":["Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920","MUCOPOLYSACCHARIDOSIS TYPE 3B (MPS3B)"],"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":["NAG"],"biotype":"protein_coding","hgnc_id":"HGNC:7632","gene_name":"N-acetyl-alpha-glucosaminidase","omim_gene":["609701"],"alias_name":["Sanfilippo disease IIIB"],"gene_symbol":"NAGLU","hgnc_symbol":"NAGLU","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:40688190-40696467","ensembl_id":"ENSG00000108784"}},"GRch38":{"90":{"location":"17:42536172-42544449","ensembl_id":"ENSG00000108784"}}},"hgnc_date_symbol_changed":"1995-09-15"},"entity_type":"gene","entity_name":"NAGLU","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"Other - please provide details in the comments","publications":["25818867"],"evidence":["London North GLH","NHS GMS","Wessex and West Midlands GLH","Expert Review Red","Hereditary ataxia v1.148"],"phenotypes":["CMT axon type 2V, 616491","Sanfilippo syndrome B (AR) (OMIM #252920)","Sensory neuropathy turning into a mild sensory ataxia (AD)"],"mode_of_inheritance":"BOTH monoallelic and 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."}]}},{"gene_data":{"alias":["NAG"],"biotype":"protein_coding","hgnc_id":"HGNC:7632","gene_name":"N-acetyl-alpha-glucosaminidase","omim_gene":["609701"],"alias_name":["Sanfilippo disease IIIB"],"gene_symbol":"NAGLU","hgnc_symbol":"NAGLU","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:40688190-40696467","ensembl_id":"ENSG00000108784"}},"GRch38":{"90":{"location":"17:42536172-42544449","ensembl_id":"ENSG00000108784"}}},"hgnc_date_symbol_changed":"1995-09-15"},"entity_type":"gene","entity_name":"NAGLU","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308"],"evidence":["MetBioNet","Expert Review Green","MetBioNet","Expert Review Green"],"phenotypes":["Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920","Mucopolysaccharidosis Type IIIB","MUCOPOLYSACCHARIDOSIS TYPE 3B","Mucopolysaccharidosis, Type III","Mucopolysaccharidosis Type III","MPS IIIB, Sanfilippo B disease (Mucopolysaccharidoses)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":749,"hash_id":null,"name":"Cardiomyopathies - including childhood onset","disease_group":"","disease_sub_group":"","status":"public","version":"0.13","version_created":"2019-09-16T12:01:25.928956Z","relevant_disorders":["Paediatric or syndromic cardiomyopathy","R135"],"stats":{"number_of_genes":180,"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 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."}]}}]}