{"count":10,"next":null,"previous":null,"results":[{"gene_data":{"alias":["KIAA0123","Alpha-MPP"],"biotype":"protein_coding","hgnc_id":"HGNC:18667","gene_name":"peptidase, mitochondrial processing alpha subunit","omim_gene":["613036"],"alias_name":null,"gene_symbol":"PMPCA","hgnc_symbol":"PMPCA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:139305110-139318213","ensembl_id":"ENSG00000165688"}},"GRch38":{"90":{"location":"9:136410570-136423761","ensembl_id":"ENSG00000165688"}}},"hgnc_date_symbol_changed":"2003-06-20"},"entity_type":"gene","entity_name":"PMPCA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["PubMed: 10528257, 25808372"],"evidence":["Expert Review Green"],"phenotypes":["Spinocerebellar ataxia, autosomal recessive 2  213200  AR","Non-progressive cerebellar ataxia   recessive variants identified in 17 patients from four different families."],"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":["KIAA0123","Alpha-MPP"],"biotype":"protein_coding","hgnc_id":"HGNC:18667","gene_name":"peptidase, mitochondrial processing alpha subunit","omim_gene":["613036"],"alias_name":null,"gene_symbol":"PMPCA","hgnc_symbol":"PMPCA","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"9:139305110-139318213","ensembl_id":"ENSG00000165688"}},"GRch38":{"90":{"location":"9:136410570-136423761","ensembl_id":"ENSG00000165688"}}},"hgnc_date_symbol_changed":"2003-06-20"},"entity_type":"gene","entity_name":"PMPCA","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["PMID:25808372"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Non-progressive cerebellar ataxia   recessive variants identified in 17 patients from four different families."],"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":["KIAA0123","Alpha-MPP"],"biotype":"protein_coding","hgnc_id":"HGNC:18667","gene_name":"peptidase, mitochondrial processing alpha subunit","omim_gene":["613036"],"alias_name":null,"gene_symbol":"PMPCA","hgnc_symbol":"PMPCA","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"9:139305110-139318213","ensembl_id":"ENSG00000165688"}},"GRch38":{"90":{"location":"9:136410570-136423761","ensembl_id":"ENSG00000165688"}}},"hgnc_date_symbol_changed":"2003-06-20"},"entity_type":"gene","entity_name":"PMPCA","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["PubMed: 10528257, 25808372"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Spinocerebellar ataxia, autosomal recessive 2  213200  AR"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":286,"hash_id":"568f871422c1fc1c79ca176d","name":"Cerebellar hypoplasia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Motor Disorders of the CNS","status":"public","version":"1.39","version_created":"2019-10-07T10:30:38.401018Z","relevant_disorders":["Cerebellar Hypoplasia","Pontine tegmental cap dysplasia"],"stats":{"number_of_genes":66,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["KIAA0123","Alpha-MPP"],"biotype":"protein_coding","hgnc_id":"HGNC:18667","gene_name":"peptidase, mitochondrial processing alpha subunit","omim_gene":["613036"],"alias_name":null,"gene_symbol":"PMPCA","hgnc_symbol":"PMPCA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:139305110-139318213","ensembl_id":"ENSG00000165688"}},"GRch38":{"90":{"location":"9:136410570-136423761","ensembl_id":"ENSG00000165688"}}},"hgnc_date_symbol_changed":"2003-06-20"},"entity_type":"gene","entity_name":"PMPCA","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["PMID:25808372"],"evidence":["Expert Review Red","Wessex and West Midlands GLH","Yorkshire and North East GLH","NHS GMS","London North GLH"],"phenotypes":["Non-progressive cerebellar ataxia   recessive variants identified in 17 patients from four different families."],"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":["KIAA0123","Alpha-MPP"],"biotype":"protein_coding","hgnc_id":"HGNC:18667","gene_name":"peptidase, mitochondrial processing alpha subunit","omim_gene":["613036"],"alias_name":null,"gene_symbol":"PMPCA","hgnc_symbol":"PMPCA","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"9:139305110-139318213","ensembl_id":"ENSG00000165688"}},"GRch38":{"90":{"location":"9:136410570-136423761","ensembl_id":"ENSG00000165688"}}},"hgnc_date_symbol_changed":"2003-06-20"},"entity_type":"gene","entity_name":"PMPCA","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["25808372","26657514"],"evidence":["Expert Review Green"],"phenotypes":["non-progressive cerebellar ataxia","slowly progressive cerebellar ataxia"],"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":["KIAA0123","Alpha-MPP"],"biotype":"protein_coding","hgnc_id":"HGNC:18667","gene_name":"peptidase, mitochondrial processing alpha subunit","omim_gene":["613036"],"alias_name":null,"gene_symbol":"PMPCA","hgnc_symbol":"PMPCA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:139305110-139318213","ensembl_id":"ENSG00000165688"}},"GRch38":{"90":{"location":"9:136410570-136423761","ensembl_id":"ENSG00000165688"}}},"hgnc_date_symbol_changed":"2003-06-20"},"entity_type":"gene","entity_name":"PMPCA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26657514","25808372"],"evidence":["Expert Review Green"],"phenotypes":["slowly progressive cerebellar ataxia","non-progressive cerebellar ataxia"],"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":["KIAA0123","Alpha-MPP"],"biotype":"protein_coding","hgnc_id":"HGNC:18667","gene_name":"peptidase, mitochondrial processing alpha subunit","omim_gene":["613036"],"alias_name":null,"gene_symbol":"PMPCA","hgnc_symbol":"PMPCA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:139305110-139318213","ensembl_id":"ENSG00000165688"}},"GRch38":{"90":{"location":"9:136410570-136423761","ensembl_id":"ENSG00000165688"}}},"hgnc_date_symbol_changed":"2003-06-20"},"entity_type":"gene","entity_name":"PMPCA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green"],"phenotypes":["SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, 213200"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":539,"hash_id":null,"name":"Possible mitochondrial disorder - nuclear genes","disease_group":"","disease_sub_group":"","status":"public","version":"1.12","version_created":"2019-09-16T14:57:01.996850Z","relevant_disorders":["R63"],"stats":{"number_of_genes":374,"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":["KIAA0123","Alpha-MPP"],"biotype":"protein_coding","hgnc_id":"HGNC:18667","gene_name":"peptidase, mitochondrial processing alpha subunit","omim_gene":["613036"],"alias_name":null,"gene_symbol":"PMPCA","hgnc_symbol":"PMPCA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:139305110-139318213","ensembl_id":"ENSG00000165688"}},"GRch38":{"90":{"location":"9:136410570-136423761","ensembl_id":"ENSG00000165688"}}},"hgnc_date_symbol_changed":"2003-06-20"},"entity_type":"gene","entity_name":"PMPCA","confidence_level":"0","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["25808372","26657514","27148589","30617178"],"evidence":["Radboud University Medical Center, Nijmegen","Literature"],"phenotypes":["Spinocerebellar ataxia, autosomal recessive 2 (MIM 213200)"],"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":["KIAA0123","Alpha-MPP"],"biotype":"protein_coding","hgnc_id":"HGNC:18667","gene_name":"peptidase, mitochondrial processing alpha subunit","omim_gene":["613036"],"alias_name":null,"gene_symbol":"PMPCA","hgnc_symbol":"PMPCA","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"9:139305110-139318213","ensembl_id":"ENSG00000165688"}},"GRch38":{"90":{"location":"9:136410570-136423761","ensembl_id":"ENSG00000165688"}}},"hgnc_date_symbol_changed":"2003-06-20"},"entity_type":"gene","entity_name":"PMPCA","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["PMID: 25808372","PMID: 26657514"],"evidence":["Victorian Clinical Genetics Services","Expert Review Green","Expert list"],"phenotypes":["non-progressive cerebellar ataxia","slowly progressive cerebellar ataxia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":112,"hash_id":"55928cf522c1fc4f7d26e960","name":"Mitochondrial disorders","disease_group":"Metabolic disorders","disease_sub_group":"Mitochondrial","status":"public","version":"2.1","version_created":"2019-10-01T15:59:44.993681Z","relevant_disorders":["Lactic acidosis","All recognised syndromes and those with suggestive features"],"stats":{"number_of_genes":467,"number_of_strs":2,"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":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"},{"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":["KIAA0123","Alpha-MPP"],"biotype":"protein_coding","hgnc_id":"HGNC:18667","gene_name":"peptidase, mitochondrial processing alpha subunit","omim_gene":["613036"],"alias_name":null,"gene_symbol":"PMPCA","hgnc_symbol":"PMPCA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:139305110-139318213","ensembl_id":"ENSG00000165688"}},"GRch38":{"90":{"location":"9:136410570-136423761","ensembl_id":"ENSG00000165688"}}},"hgnc_date_symbol_changed":"2003-06-20"},"entity_type":"gene","entity_name":"PMPCA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25808372"],"evidence":["NHS GMS","Wessex and West Midlands GLH","Expert Review Green","Hereditary ataxia v1.148"],"phenotypes":["Autosomal recessive spinocerebellar ataxia 2, 213200","Non-progressive cerebellar ataxia   recessive variants identified in 17 patients from four different families."],"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."}]}}]}