{"count":11,"next":null,"previous":null,"results":[{"gene_data":{"alias":["NOP10P","MGC70651"],"biotype":"protein_coding","hgnc_id":"HGNC:14378","gene_name":"NOP10 ribonucleoprotein","omim_gene":["606471"],"alias_name":["homolog of yeast Nop10p"],"gene_symbol":"NOP10","hgnc_symbol":"NOP10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:34633917-34635378","ensembl_id":"ENSG00000182117"}},"GRch38":{"90":{"location":"15:34341713-34343177","ensembl_id":"ENSG00000182117"}}},"hgnc_date_symbol_changed":"2008-10-13"},"entity_type":"gene","entity_name":"NOP10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28297620"],"evidence":["Expert Review Green","Curated sources"],"phenotypes":["Class: BM failure syndrome (typ AR)","Dyskeratosis congenita","MDS, AML","Oral and GI squamous cell carcinoma"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":407,"hash_id":null,"name":"Haematological malignancies for rare disease","disease_group":"Tumour syndromes","disease_sub_group":"Tumour syndromes","status":"public","version":"1.1","version_created":"2019-06-20T15:11:49.421852Z","relevant_disorders":[],"stats":{"number_of_genes":89,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["NOP10P","MGC70651"],"biotype":"protein_coding","hgnc_id":"HGNC:14378","gene_name":"NOP10 ribonucleoprotein","omim_gene":["606471"],"alias_name":["homolog of yeast Nop10p"],"gene_symbol":"NOP10","hgnc_symbol":"NOP10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:34633917-34635378","ensembl_id":"ENSG00000182117"}},"GRch38":{"90":{"location":"15:34341713-34343177","ensembl_id":"ENSG00000182117"}}},"hgnc_date_symbol_changed":"2008-10-13"},"entity_type":"gene","entity_name":"NOP10","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["22965356"],"evidence":["NHS GMS","Expert List"],"phenotypes":["Dyskeratosis Congenita"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":243,"hash_id":"55af539322c1fc78a9ef5052","name":"Tumour predisposition - childhood onset","disease_group":"Tumour syndromes","disease_sub_group":"Childhood Tumours","status":"public","version":"1.36","version_created":"2019-08-12T08:35:21.843722Z","relevant_disorders":["Paediatric congenital malformation-dysmorphism-tumour syndrome","Paediatric congenital malformation-dysmorphism-tumour syndromes","Paediatric congenital malformation-dysmorphism-tumour sydromes","Paediatric congenital malformation-dysmorphism-tumour syndrome","R359"],"stats":{"number_of_genes":113,"number_of_strs":0,"number_of_regions":1},"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 Cancer Germline Virtual","slug":"gms-cancer-germline-virtual","description":"This is a panel used for WGS germline analysis for the GMS."}]}},{"gene_data":{"alias":["NOP10P","MGC70651"],"biotype":"protein_coding","hgnc_id":"HGNC:14378","gene_name":"NOP10 ribonucleoprotein","omim_gene":["606471"],"alias_name":["homolog of yeast Nop10p"],"gene_symbol":"NOP10","hgnc_symbol":"NOP10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:34633917-34635378","ensembl_id":"ENSG00000182117"}},"GRch38":{"90":{"location":"15:34341713-34343177","ensembl_id":"ENSG00000182117"}}},"hgnc_date_symbol_changed":"2008-10-13"},"entity_type":"gene","entity_name":"NOP10","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["London North GLH","Expert Review Red","NHS GMS"],"phenotypes":["DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, 224230"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":559,"hash_id":null,"name":"Pigmentary skin disorders","disease_group":"","disease_sub_group":"","status":"public","version":"0.15","version_created":"2019-09-17T17:51:23.014209Z","relevant_disorders":[],"stats":{"number_of_genes":102,"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":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["NOP10P","MGC70651"],"biotype":"protein_coding","hgnc_id":"HGNC:14378","gene_name":"NOP10 ribonucleoprotein","omim_gene":["606471"],"alias_name":["homolog of yeast Nop10p"],"gene_symbol":"NOP10","hgnc_symbol":"NOP10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:34633917-34635378","ensembl_id":"ENSG00000182117"}},"GRch38":{"90":{"location":"15:34341713-34343177","ensembl_id":"ENSG00000182117"}}},"hgnc_date_symbol_changed":"2008-10-13"},"entity_type":"gene","entity_name":"NOP10","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Dyskeratosis congenita, autosomal recessive 1 (224230)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":209,"hash_id":"58c8066b8f6203413360f1cf","name":"Ductal plate malformation","disease_group":"","disease_sub_group":"","status":"public","version":"1.10","version_created":"2019-06-20T15:10:58.988548Z","relevant_disorders":["Ductal plate malformation (DPM)","Polycystic liver disease"],"stats":{"number_of_genes":150,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["NOP10P","MGC70651"],"biotype":"protein_coding","hgnc_id":"HGNC:14378","gene_name":"NOP10 ribonucleoprotein","omim_gene":["606471"],"alias_name":["homolog of yeast Nop10p"],"gene_symbol":"NOP10","hgnc_symbol":"NOP10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:34633917-34635378","ensembl_id":"ENSG00000182117"}},"GRch38":{"90":{"location":"15:34341713-34343177","ensembl_id":"ENSG00000182117"}}},"hgnc_date_symbol_changed":"2008-10-13"},"entity_type":"gene","entity_name":"NOP10","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["17507419"],"evidence":["Expert Review Amber","IUIS Classification February 2018","Victorian Clinical Genetics Services","ESID Registry 20171117","GRID V2.0"],"phenotypes":["Dyskeratosis congenita, autosomal recessive 1 224230","Dyskeratosis congenita 1","Dyskeratosis congenita","Hoyeraal-Hreidarsson syndrome","Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients","Combined immunodeficiencies with associated or syndromic features"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":398,"hash_id":null,"name":"Primary immunodeficiency","disease_group":"","disease_sub_group":"","status":"public","version":"1.132","version_created":"2019-09-27T14:37:49.085568Z","relevant_disorders":["Primary immunodeficiency disorders","A- or hypo-gammaglobulinaemia","Congenital neutropaenia","Agranulocytosis","Combined B and T cell defect","Inherited complement deficiency","SCID","Primary immune disorder","Primary immunodeficiency","A-gammaglobulinaemia","Agammaglobulinaemia","hypo-gammaglobulinaemia","hypogammaglobulinemia","immune deficiency syndromes","Severe combined immunodeficiency","Congenital neutopenia","Familial haemophagocytic lymphohistiocytic disorders","Familial hemophagocytic lymphohistiocytic disorders","PID","Sepsis","Disseminated non-tuberculous mycobacterial infection","R15"],"stats":{"number_of_genes":395,"number_of_strs":0,"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":["NOP10P","MGC70651"],"biotype":"protein_coding","hgnc_id":"HGNC:14378","gene_name":"NOP10 ribonucleoprotein","omim_gene":["606471"],"alias_name":["homolog of yeast Nop10p"],"gene_symbol":"NOP10","hgnc_symbol":"NOP10","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:34633917-34635378","ensembl_id":"ENSG00000182117"}},"GRch38":{"90":{"location":"15:34341713-34343177","ensembl_id":"ENSG00000182117"}}},"hgnc_date_symbol_changed":"2008-10-13"},"entity_type":"gene","entity_name":"NOP10","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["17507419"],"evidence":["Expert Review Red","Expert list","Illumina TruGenome Clinical Sequencing Services","UKGTN","Radboud University Medical Center, Nijmegen"],"phenotypes":["Dyskeratosis congenita, autosomal recessive 1\t224230"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":159,"hash_id":"58a70e858f62037e8779b2e8","name":"Cytopenias and congenital anaemias","disease_group":"Haematological disorders","disease_sub_group":"Anaemias and red cell disorders","status":"public","version":"1.73","version_created":"2019-09-23T11:25:32.403071Z","relevant_disorders":["Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria","Apparent aplastic anaemia or paroxysmal nocturnal haemoglobinuria","Congenital anaemias","Early onset pancytopenia and red cell disorders","Anaemias and red cell disorders","Cytopaenias and congenital anaemias","Cytopenia and pancytopenia"],"stats":{"number_of_genes":219,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["NOP10P","MGC70651"],"biotype":"protein_coding","hgnc_id":"HGNC:14378","gene_name":"NOP10 ribonucleoprotein","omim_gene":["606471"],"alias_name":["homolog of yeast Nop10p"],"gene_symbol":"NOP10","hgnc_symbol":"NOP10","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:34633917-34635378","ensembl_id":"ENSG00000182117"}},"GRch38":{"90":{"location":"15:34341713-34343177","ensembl_id":"ENSG00000182117"}}},"hgnc_date_symbol_changed":"2008-10-13"},"entity_type":"gene","entity_name":"NOP10","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["22965356"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Dyskeratosis Congenita"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":259,"hash_id":"595cd7cc8f62036352471ea1","name":"Childhood solid tumours cancer susceptibility","disease_group":"Cancer Programme","disease_sub_group":"Pertinent cancer susceptibility gene panel","status":"public","version":"1.5","version_created":"2019-08-13T09:49:07.790050Z","relevant_disorders":["Childhood;Childhood solid tumours pertinent cancer susceptibility"],"stats":{"number_of_genes":83,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Cancer Germline 100K","slug":"cancer-germline-100k","description":"Cancer Germline 100K"}]}},{"gene_data":{"alias":["NOP10P","MGC70651"],"biotype":"protein_coding","hgnc_id":"HGNC:14378","gene_name":"NOP10 ribonucleoprotein","omim_gene":["606471"],"alias_name":["homolog of yeast Nop10p"],"gene_symbol":"NOP10","hgnc_symbol":"NOP10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:34633917-34635378","ensembl_id":"ENSG00000182117"}},"GRch38":{"90":{"location":"15:34341713-34343177","ensembl_id":"ENSG00000182117"}}},"hgnc_date_symbol_changed":"2008-10-13"},"entity_type":"gene","entity_name":"NOP10","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS"],"phenotypes":["Dyskeratosis Congenita"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":245,"hash_id":"595ce30f8f62036352471f39","name":"Adult solid tumours cancer susceptibility","disease_group":"Cancer Programme","disease_sub_group":"Pertinent cancer susceptibility gene panel","status":"public","version":"1.7","version_created":"2019-08-13T09:55:08.772098Z","relevant_disorders":["Carcinoma of unknown primary","Other","Adult solid tumours pertinent cancer susceptibility"],"stats":{"number_of_genes":103,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Cancer Germline 100K","slug":"cancer-germline-100k","description":"Cancer Germline 100K"},{"name":"GMS Cancer Germline Virtual","slug":"gms-cancer-germline-virtual","description":"This is a panel used for WGS germline analysis for the GMS."}]}},{"gene_data":{"alias":["NOP10P","MGC70651"],"biotype":"protein_coding","hgnc_id":"HGNC:14378","gene_name":"NOP10 ribonucleoprotein","omim_gene":["606471"],"alias_name":["homolog of yeast Nop10p"],"gene_symbol":"NOP10","hgnc_symbol":"NOP10","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:34633917-34635378","ensembl_id":"ENSG00000182117"}},"GRch38":{"90":{"location":"15:34341713-34343177","ensembl_id":"ENSG00000182117"}}},"hgnc_date_symbol_changed":"2008-10-13"},"entity_type":"gene","entity_name":"NOP10","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["28297620"],"evidence":["Expert Review Green","Curated sources"],"phenotypes":["Class: BM failure syndrome (typ AR)","Dyskeratosis congenita","MDS, AML","Oral and GI squamous cell carcinoma"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":59,"hash_id":"594a71908f620375d17ea6b2","name":"Haematological malignancies cancer susceptibility","disease_group":"Cancer Programme","disease_sub_group":"Pertinent cancer susceptibility gene panel","status":"public","version":"1.19","version_created":"2019-08-06T10:21:26.792978Z","relevant_disorders":["Haemonc;Haematological malignancies pertinent cancer susceptibility"],"stats":{"number_of_genes":93,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Cancer Germline 100K","slug":"cancer-germline-100k","description":"Cancer Germline 100K"},{"name":"GMS Cancer Germline Virtual","slug":"gms-cancer-germline-virtual","description":"This is a panel used for WGS germline analysis for the GMS."}]}},{"gene_data":{"alias":["NOP10P","MGC70651"],"biotype":"protein_coding","hgnc_id":"HGNC:14378","gene_name":"NOP10 ribonucleoprotein","omim_gene":["606471"],"alias_name":["homolog of yeast Nop10p"],"gene_symbol":"NOP10","hgnc_symbol":"NOP10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:34633917-34635378","ensembl_id":"ENSG00000182117"}},"GRch38":{"90":{"location":"15:34341713-34343177","ensembl_id":"ENSG00000182117"}}},"hgnc_date_symbol_changed":"2008-10-13"},"entity_type":"gene","entity_name":"NOP10","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["17507419"],"evidence":["Expert Review Amber","North West GLH","London South GLH","NHS GMS","Wessex and West Midlands GLH"],"phenotypes":["Dyskeratosis congenita, autosomal recessive 1, 224230","224230 Dyskeratosis congenita, autosomal recessive 1"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":519,"hash_id":null,"name":"Cytopenia - NOT Fanconi anaemia","disease_group":"","disease_sub_group":"","status":"public","version":"0.120","version_created":"2019-09-23T10:29:43.892929Z","relevant_disorders":["R91","R258"],"stats":{"number_of_genes":84,"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)"}]}},{"gene_data":{"alias":["NOP10P","MGC70651"],"biotype":"protein_coding","hgnc_id":"HGNC:14378","gene_name":"NOP10 ribonucleoprotein","omim_gene":["606471"],"alias_name":["homolog of yeast Nop10p"],"gene_symbol":"NOP10","hgnc_symbol":"NOP10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:34633917-34635378","ensembl_id":"ENSG00000182117"}},"GRch38":{"90":{"location":"15:34341713-34343177","ensembl_id":"ENSG00000182117"}}},"hgnc_date_symbol_changed":"2008-10-13"},"entity_type":"gene","entity_name":"NOP10","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"Other - please provide details in the comments","publications":["17507419"],"evidence":["DD-Gene2Phenotype","Expert Review Red"],"phenotypes":["DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 224230","NOP10-RELATED DYSKERATOSIS CONGENITA 318811"],"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"}]}}]}