{"count":12,"next":null,"previous":null,"results":[{"gene_data":{"alias":["XPCT","MCT8","MCT7"],"biotype":"protein_coding","hgnc_id":"HGNC:10923","gene_name":"solute carrier family 16 member 2","omim_gene":["300095"],"alias_name":null,"gene_symbol":"SLC16A2","hgnc_symbol":"SLC16A2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:73641085-73753752","ensembl_id":"ENSG00000147100"}},"GRch38":{"90":{"location":"X:74421461-74533917","ensembl_id":"ENSG00000147100"}}},"hgnc_date_symbol_changed":"1994-04-22"},"entity_type":"gene","entity_name":"SLC16A2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["24847459"],"evidence":["Expert list","Expert Review Green","Eligibility statement prior genetic testing","Other","Emory Genetics Laboratory","Radboud University Medical Center, Nijmegen","UKGTN","Literature"],"phenotypes":["Monocarboxylate transporter 8 (MCT8) defect","Allan-Herndon-Dudley syndrome","Allan_Herndon_Dudley Syndrome","AHDS","300523","Allan-Herndon-Dudley syndrome, 300523","Allan-Herndon-Dudley Syndrome","ALLAN-HERNDON-DUDLEY SYNDROME","ALLAN-HERNDON SYNDROME","MONOCARBOXYLATE TRANSPORTER 8 DEFICIENCY","TRIIODOTHYRONINE RESISTANCE","T3 RESISTANCE","MENTAL RETARDATION, X-LINKED, WITH HYPOTONIA","MENTAL RETARDATION AND MUSCULAR ATROPHY","mental retardation, X-linked, with hypotonia","MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency","monocarboxylate transporter 8 (MCT8) deficiency"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":["treatable"],"panel":{"id":236,"hash_id":"576cd44c8f6203609632be80","name":"Hyperthyroidism","disease_group":"Endocrine disorders","disease_sub_group":"Thyroid disorders","status":"public","version":"2.0","version_created":"2019-07-31T15:03:48.384099Z","relevant_disorders":["Resistance to thyroid hormone","R182"],"stats":{"number_of_genes":7,"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."},{"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":["XPCT","MCT8","MCT7"],"biotype":"protein_coding","hgnc_id":"HGNC:10923","gene_name":"solute carrier family 16 member 2","omim_gene":["300095"],"alias_name":null,"gene_symbol":"SLC16A2","hgnc_symbol":"SLC16A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:73641085-73753752","ensembl_id":"ENSG00000147100"}},"GRch38":{"90":{"location":"X:74421461-74533917","ensembl_id":"ENSG00000147100"}}},"hgnc_date_symbol_changed":"1994-04-22"},"entity_type":"gene","entity_name":"SLC16A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_524"],"evidence":["Expert Review Green"],"phenotypes":["General Leukodystrophy & Mitochondrial Leukoencephalopathy","Hypomyelinating Leukodystrophy & Pelizaeus-Merzbacher Disease","Monocarboxylate transporter 8 deficiency (MCT8)","Allan-Herndon-Dudley syndrome"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":476,"hash_id":null,"name":"White matter disorders and cerebral calcification - narrow panel","disease_group":"","disease_sub_group":"","status":"public","version":"1.9","version_created":"2019-08-08T11:56:25.970239Z","relevant_disorders":[],"stats":{"number_of_genes":191,"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":["XPCT","MCT8","MCT7"],"biotype":"protein_coding","hgnc_id":"HGNC:10923","gene_name":"solute carrier family 16 member 2","omim_gene":["300095"],"alias_name":null,"gene_symbol":"SLC16A2","hgnc_symbol":"SLC16A2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:73641085-73753752","ensembl_id":"ENSG00000147100"}},"GRch38":{"90":{"location":"X:74421461-74533917","ensembl_id":"ENSG00000147100"}}},"hgnc_date_symbol_changed":"1994-04-22"},"entity_type":"gene","entity_name":"SLC16A2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_524"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Hypomyelinating Leukodystrophy & Pelizaeus-Merzbacher Disease","Allan-Herndon-Dudley syndrome","Monocarboxylate transporter 8 deficiency (MCT8)","General Leukodystrophy & Mitochondrial Leukoencephalopathy"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":42,"hash_id":"568f920822c1fc1c79ca177a","name":"Inherited white matter disorders","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"White matter disorders","status":"public","version":"1.71","version_created":"2019-08-08T12:01:29.978699Z","relevant_disorders":["Leukodystrophy - adult onset"],"stats":{"number_of_genes":166,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["XPCT","MCT8","MCT7"],"biotype":"protein_coding","hgnc_id":"HGNC:10923","gene_name":"solute carrier family 16 member 2","omim_gene":["300095"],"alias_name":null,"gene_symbol":"SLC16A2","hgnc_symbol":"SLC16A2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:73641085-73753752","ensembl_id":"ENSG00000147100"}},"GRch38":{"90":{"location":"X:74421461-74533917","ensembl_id":"ENSG00000147100"}}},"hgnc_date_symbol_changed":"1994-04-22"},"entity_type":"gene","entity_name":"SLC16A2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["Friesema et al. (2003)"],"evidence":["Expert Review Green","Expert list"],"phenotypes":[],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["XPCT","MCT8","MCT7"],"biotype":"protein_coding","hgnc_id":"HGNC:10923","gene_name":"solute carrier family 16 member 2","omim_gene":["300095"],"alias_name":null,"gene_symbol":"SLC16A2","hgnc_symbol":"SLC16A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:73641085-73753752","ensembl_id":"ENSG00000147100"}},"GRch38":{"90":{"location":"X:74421461-74533917","ensembl_id":"ENSG00000147100"}}},"hgnc_date_symbol_changed":"1994-04-22"},"entity_type":"gene","entity_name":"SLC16A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12871948","14661163","19194886"],"evidence":["Yorkshire and North East GLH","NHS GMS","London North GLH","Expert Review Green","Expert list"],"phenotypes":["Allan-Herndon-Dudley syndrome, 300523"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["XPCT","MCT8","MCT7"],"biotype":"protein_coding","hgnc_id":"HGNC:10923","gene_name":"solute carrier family 16 member 2","omim_gene":["300095"],"alias_name":null,"gene_symbol":"SLC16A2","hgnc_symbol":"SLC16A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:73641085-73753752","ensembl_id":"ENSG00000147100"}},"GRch38":{"90":{"location":"X:74421461-74533917","ensembl_id":"ENSG00000147100"}}},"hgnc_date_symbol_changed":"1994-04-22"},"entity_type":"gene","entity_name":"SLC16A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["14661163","19194886"],"evidence":["Yorkshire and North East GLH","Expert Review Green","NHS GMS","London North GLH"],"phenotypes":["Allan-Herndon-Dudley syndrome, 300523, XL"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["XPCT","MCT8","MCT7"],"biotype":"protein_coding","hgnc_id":"HGNC:10923","gene_name":"solute carrier family 16 member 2","omim_gene":["300095"],"alias_name":null,"gene_symbol":"SLC16A2","hgnc_symbol":"SLC16A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:73641085-73753752","ensembl_id":"ENSG00000147100"}},"GRch38":{"90":{"location":"X:74421461-74533917","ensembl_id":"ENSG00000147100"}}},"hgnc_date_symbol_changed":"1994-04-22"},"entity_type":"gene","entity_name":"SLC16A2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["Friesema et al. (2003)"],"evidence":["Expert Review Red","Wessex and West Midlands GLH","Yorkshire and North East GLH","NHS GMS","London North GLH"],"phenotypes":[],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["XPCT","MCT8","MCT7"],"biotype":"protein_coding","hgnc_id":"HGNC:10923","gene_name":"solute carrier family 16 member 2","omim_gene":["300095"],"alias_name":null,"gene_symbol":"SLC16A2","hgnc_symbol":"SLC16A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:73641085-73753752","ensembl_id":"ENSG00000147100"}},"GRch38":{"90":{"location":"X:74421461-74533917","ensembl_id":"ENSG00000147100"}}},"hgnc_date_symbol_changed":"1994-04-22"},"entity_type":"gene","entity_name":"SLC16A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["PAGE DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["MCT8 (SLC16A2)-SPECIFIC THYROID HORMONE CELL TRANSPORTER DEFICIENCY"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["XPCT","MCT8","MCT7"],"biotype":"protein_coding","hgnc_id":"HGNC:10923","gene_name":"solute carrier family 16 member 2","omim_gene":["300095"],"alias_name":null,"gene_symbol":"SLC16A2","hgnc_symbol":"SLC16A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:73641085-73753752","ensembl_id":"ENSG00000147100"}},"GRch38":{"90":{"location":"X:74421461-74533917","ensembl_id":"ENSG00000147100"}}},"hgnc_date_symbol_changed":"1994-04-22"},"entity_type":"gene","entity_name":"SLC16A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15488219","1605231","8484404","14661163","15889350"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["MCT8 (SLC16A2)-SPECIFIC THYROID HORMONE CELL TRANSPORTER DEFICIENCY 300523"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["XPCT","MCT8","MCT7"],"biotype":"protein_coding","hgnc_id":"HGNC:10923","gene_name":"solute carrier family 16 member 2","omim_gene":["300095"],"alias_name":null,"gene_symbol":"SLC16A2","hgnc_symbol":"SLC16A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:73641085-73753752","ensembl_id":"ENSG00000147100"}},"GRch38":{"90":{"location":"X:74421461-74533917","ensembl_id":"ENSG00000147100"}}},"hgnc_date_symbol_changed":"1994-04-22"},"entity_type":"gene","entity_name":"SLC16A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27212794","15980113","18398436"],"evidence":["Expert Review Green","Wessex and West Midlands GLH","NHS GMS","Victorian Clinical Genetics Services","UKGTN"],"phenotypes":["Allan-Herndon-Dudley syndrome, 300523","AHDS"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":402,"hash_id":null,"name":"Genetic epilepsy syndromes","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Inherited Epilepsy Syndromes","status":"public","version":"1.363","version_created":"2019-10-08T10:06:11.607307Z","relevant_disorders":["Epilepsy Plus","Epilepsy plus other features","Genetic Epilepsy Syndromes","Epileptic encephalopathy","Familial Focal Epilepsies","Familial Genetic Generalised Epilepsies","Genetic Epilepsies with Febrile Seizures Plus (GEFS+)","Genetic Epilepsies with Febrile Seizures Plus"],"stats":{"number_of_genes":614,"number_of_strs":2,"number_of_regions":13},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"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":["XPCT","MCT8","MCT7"],"biotype":"protein_coding","hgnc_id":"HGNC:10923","gene_name":"solute carrier family 16 member 2","omim_gene":["300095"],"alias_name":null,"gene_symbol":"SLC16A2","hgnc_symbol":"SLC16A2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:73641085-73753752","ensembl_id":"ENSG00000147100"}},"GRch38":{"90":{"location":"X:74421461-74533917","ensembl_id":"ENSG00000147100"}}},"hgnc_date_symbol_changed":"1994-04-22"},"entity_type":"gene","entity_name":"SLC16A2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green","Radboud University Medical Center, Nijmegen","Emory Genetics Laboratory"],"phenotypes":["Allan-Herndon-Dudley syndrome, 300523","MCT8 (SLC16A2)-SPECIFIC THYROID HORMONE CELL TRANSPORTER DEFICIENCY"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["XPCT","MCT8","MCT7"],"biotype":"protein_coding","hgnc_id":"HGNC:10923","gene_name":"solute carrier family 16 member 2","omim_gene":["300095"],"alias_name":null,"gene_symbol":"SLC16A2","hgnc_symbol":"SLC16A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:73641085-73753752","ensembl_id":"ENSG00000147100"}},"GRch38":{"90":{"location":"X:74421461-74533917","ensembl_id":"ENSG00000147100"}}},"hgnc_date_symbol_changed":"1994-04-22"},"entity_type":"gene","entity_name":"SLC16A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24847459"],"evidence":["Expert Review Green"],"phenotypes":["MENTAL RETARDATION AND MUSCULAR ATROPHY","MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency","monocarboxylate transporter 8 (MCT8) deficiency","ALLAN-HERNDON SYNDROME","Monocarboxylate transporter 8 (MCT8) defect","Allan-Herndon-Dudley syndrome","AHDS","MENTAL RETARDATION, X-LINKED, WITH HYPOTONIA","Allan_Herndon_Dudley Syndrome","mental retardation, X-linked, with hypotonia","MONOCARBOXYLATE TRANSPORTER 8 DEFICIENCY","Allan-Herndon-Dudley Syndrome","T3 RESISTANCE","TRIIODOTHYRONINE RESISTANCE","300523","Allan-Herndon-Dudley syndrome, 300523","ALLAN-HERNDON-DUDLEY SYNDROME"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":["treatable"],"panel":{"id":31,"hash_id":"5763f2938f620350a1996046","name":"Congenital hypothyroidism","disease_group":"Endocrine disorders","disease_sub_group":"Thyroid disorders","status":"public","version":"2.0","version_created":"2019-07-31T13:52:41.584963Z","relevant_disorders":["Congenital hypothyroidism or thyroid agenesis","R145"],"stats":{"number_of_genes":34,"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."},{"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."}]}}]}
