GET /api/v1/panels/541/?version=1.2
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{
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    "name": "Paroxysmal central nervous system disorders",
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                "Expert list"
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                "Hyperekplexia 4, 618011"
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                "CAPOS syndrome, 601338"
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                "22850527"
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                    "big potassium channel alpha subunit"
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            "mode_of_pathogenicity": ""
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                "Wessex and West Midlands GLH"
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                    "HNSPC"
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                "omim_gene": [
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                            "location": "20:62037542-62103993",
                            "ensembl_id": "ENSG00000075043"
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                "Infantile-onset limb and orofacial dyskinesia"
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                "Wessex and West Midlands GLH"
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                    "PDC",
                    "DKFZp564N1362",
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                    "MR-1",
                    "BRP17",
                    "FKSG19",
                    "TAHCCP2",
                    "KIAA1184",
                    "KIPP1184",
                    "MGC31943",
                    "PKND1"
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                    "EA6"
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                            "ensembl_id": "ENSG00000079215"
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                "alias_name": null,
                "gene_symbol": "MOG",
                "hgnc_symbol": "MOG",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:29624758-29640149",
                            "ensembl_id": "ENSG00000204655"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:29656981-29672372",
                            "ensembl_id": "ENSG00000204655"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-03-30"
            },
            "penetrance": null,
            "phenotypes": [
                "Narcolepsy 7, 614250"
            ],
            "transcript": null,
            "entity_name": "MOG",
            "entity_type": "gene",
            "publications": [
                "21907016"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "NHS GMS",
                "London North GLH"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8777",
                "gene_name": "phosphodiesterase 2A",
                "omim_gene": [
                    "602658"
                ],
                "alias_name": null,
                "gene_symbol": "PDE2A",
                "hgnc_symbol": "PDE2A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:72287185-72385635",
                            "ensembl_id": "ENSG00000186642"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:72576141-72674591",
                            "ensembl_id": "ENSG00000186642"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-11-10"
            },
            "penetrance": null,
            "phenotypes": [
                "infantile‐onset chorea‐predominant movement disorder"
            ],
            "transcript": null,
            "entity_name": "PDE2A",
            "entity_type": "gene",
            "publications": [
                "29392776"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "NHS GMS",
                "London North GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "Nav1.6",
                    "NaCh6",
                    "PN4",
                    "CerIII",
                    "CIAT"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10596",
                "gene_name": "sodium voltage-gated channel alpha subunit 8",
                "omim_gene": [
                    "600702"
                ],
                "alias_name": null,
                "gene_symbol": "SCN8A",
                "hgnc_symbol": "SCN8A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:51984050-52206648",
                            "ensembl_id": "ENSG00000196876"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:51590266-51812864",
                            "ensembl_id": "ENSG00000196876"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-08-23"
            },
            "penetrance": null,
            "phenotypes": [
                "Epileptic encephalopathy, early infantile, 13, 614558",
                "Seizures, benign familial infantile, 5, 617080",
                "paroxysmal kinesigenic dyskinesias"
            ],
            "transcript": null,
            "entity_name": "SCN8A",
            "entity_type": "gene",
            "publications": [
                "26677014"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "NHS GMS",
                "London North GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "DD",
                    "BABP",
                    "DD2",
                    "HAKRD",
                    "MCDR2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:385",
                "gene_name": "aldo-keto reductase family 1 member C2",
                "omim_gene": [
                    "600450"
                ],
                "alias_name": [
                    "dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III"
                ],
                "gene_symbol": "AKR1C2",
                "hgnc_symbol": "AKR1C2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:5029967-5060223",
                            "ensembl_id": "ENSG00000151632"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:4987400-5018031",
                            "ensembl_id": "ENSG00000151632"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-09-14"
            },
            "penetrance": null,
            "phenotypes": [
                "Obesity, hyperphagia, and developmental delay"
            ],
            "transcript": null,
            "entity_name": "AKR1C2",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "Unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "NHS GMS",
                "London North GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "FSP1",
                    "AD-FSP"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11231",
                "gene_name": "atlastin GTPase 1",
                "omim_gene": [
                    "606439"
                ],
                "alias_name": [
                    "atlastin"
                ],
                "gene_symbol": "ATL1",
                "hgnc_symbol": "ATL1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:50999227-51099786",
                            "ensembl_id": "ENSG00000198513"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "14:50532509-50633068",
                            "ensembl_id": "ENSG00000198513"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2008-09-17"
            },
            "penetrance": null,
            "phenotypes": [
                "Spastic paraplegia 3A, autosomal dominant, 182600",
                "Neuropathy, hereditary sensory, type ID, 613708",
                "HSN1D",
                "Hereditary sensory neuropathy"
            ],
            "transcript": null,
            "entity_name": "ATL1",
            "entity_type": "gene",
            "publications": [
                "21194679",
                "22340599"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "NHS GMS",
                "London North GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "DKFZP564J0863"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:24526",
                "gene_name": "atlastin GTPase 3",
                "omim_gene": [
                    "609369"
                ],
                "alias_name": null,
                "gene_symbol": "ATL3",
                "hgnc_symbol": "ATL3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:63391559-63439393",
                            "ensembl_id": "ENSG00000184743"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:63624087-63671921",
                            "ensembl_id": "ENSG00000184743"
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                    }
                },
                "hgnc_date_symbol_changed": "2008-09-17"
            },
            "penetrance": null,
            "phenotypes": [
                "Neuropathy, hereditary sensory, type IF, 615632",
                "HSN1F"
            ],
            "transcript": null,
            "entity_name": "ATL3",
            "entity_type": "gene",
            "publications": [
                "24736309",
                "24459106"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "NHS GMS",
                "London North GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "B37"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3033",
                "gene_name": "atrophin 1",
                "omim_gene": [
                    "607462"
                ],
                "alias_name": null,
                "gene_symbol": "ATN1",
                "hgnc_symbol": "ATN1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:7033626-7051484",
                            "ensembl_id": "ENSG00000111676"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:6924463-6942321",
                            "ensembl_id": "ENSG00000111676"
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                    }
                },
                "hgnc_date_symbol_changed": "2005-03-17"
            },
            "penetrance": null,
            "phenotypes": [
                "Dentatorubro-pallidoluysian atrophy, 125370"
            ],
            "transcript": null,
            "entity_name": "ATN1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": "Other - please provide details in the comments"
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "NHS GMS",
                "London North GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "SERCA1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:811",
                "gene_name": "ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1",
                "omim_gene": [
                    "108730"
                ],
                "alias_name": [
                    "sarcoplasmic/endoplasmic reticulum calcium ATPase 1",
                    "calcium pump 1"
                ],
                "gene_symbol": "ATP2A1",
                "hgnc_symbol": "ATP2A1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:28889726-28915830",
                            "ensembl_id": "ENSG00000196296"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:28878405-28904509",
                            "ensembl_id": "ENSG00000196296"
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                    }
                },
                "hgnc_date_symbol_changed": "1990-09-10"
            },
            "penetrance": null,
            "phenotypes": [
                "Brody myopathy, 601003"
            ],
            "transcript": null,
            "entity_name": "ATP2A1",
            "entity_type": "gene",
            "publications": [
                "9367679",
                "8841193"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "NHS GMS",
                "London North GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:870",
                "gene_name": "ATPase copper transporting beta",
                "omim_gene": [
                    "606882"
                ],
                "alias_name": [
                    "Wilson disease",
                    "copper pump 2",
                    "copper-transporting ATPase 2"
                ],
                "gene_symbol": "ATP7B",
                "hgnc_symbol": "ATP7B",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "13:52506809-52585630",
                            "ensembl_id": "ENSG00000123191"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "13:51930436-52012125",
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                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "penetrance": null,
            "phenotypes": [
                "Wilson disease, 277900"
            ],
            "transcript": null,
            "entity_name": "ATP7B",
            "entity_type": "gene",
            "publications": [
                "20301685"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "NHS GMS",
                "London North GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
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                    "Cav1.1",
                    "hypoPP"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1397",
                "gene_name": "calcium voltage-gated channel subunit alpha1 S",
                "omim_gene": [
                    "114208"
                ],
                "alias_name": null,
                "gene_symbol": "CACNA1S",
                "hgnc_symbol": "CACNA1S",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:201008642-201081694",
                            "ensembl_id": "ENSG00000081248"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "1:201039512-201112566",
                            "ensembl_id": "ENSG00000081248"
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                    }
                },
                "hgnc_date_symbol_changed": "1992-03-27"
            },
            "penetrance": null,
            "phenotypes": [
                "Hypokalemic periodic paralysis, type 1, 170400"
            ],
            "transcript": null,
            "entity_name": "CACNA1S",
            "entity_type": "gene",
            "publications": [
                "15534250",
                "18835861"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "NHS GMS",
                "London North GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "KIAA0098"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1618",
                "gene_name": "chaperonin containing TCP1 subunit 5",
                "omim_gene": [
                    "610150"
                ],
                "alias_name": null,
                "gene_symbol": "CCT5",
                "hgnc_symbol": "CCT5",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:10250033-10266524",
                            "ensembl_id": "ENSG00000150753"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:10249921-10266412",
                            "ensembl_id": "ENSG00000150753"
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                    }
                },
                "hgnc_date_symbol_changed": "1999-09-29"
            },
            "penetrance": null,
            "phenotypes": [
                "Neuropathy, hereditary sensory, with spastic paraplegia, 256840",
                "HSAN with spastic paraplegia"
            ],
            "transcript": null,
            "entity_name": "CCT5",
            "entity_type": "gene",
            "publications": [
                "28623285",
                "12874111",
                "16399879",
                "25124038"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "NHS GMS",
                "London North GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "CLC1",
                    "ClC-1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2019",
                "gene_name": "chloride voltage-gated channel 1",
                "omim_gene": [
                    "118425"
                ],
                "alias_name": [
                    "Thomsen disease, autosomal dominant"
                ],
                "gene_symbol": "CLCN1",
                "hgnc_symbol": "CLCN1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:143013219-143049176",
                            "ensembl_id": "ENSG00000188037"
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                    },
                    "GRch38": {
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                            "location": "7:143316126-143352083",
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                    }
                },
                "hgnc_date_symbol_changed": "1992-10-13"
            },
            "penetrance": null,
            "phenotypes": [
                "Myotonia levior, recessive",
                "Myotonia congenita, recessive, 255700",
                "Hyperkalemic Periodic Paralysis",
                "Myotonia Congenita",
                "Myotonia",
                "Myotonia congenita, dominant, 160800"
            ],
            "transcript": null,
            "entity_name": "CLCN1",
            "entity_type": "gene",
            "publications": [
                "11840191",
                "18337100",
                "22649220"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "NHS GMS",
                "London North GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "CLTD",
                    "CLH22",
                    "CHC22"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2093",
                "gene_name": "clathrin heavy chain like 1",
                "omim_gene": [
                    "601273"
                ],
                "alias_name": null,
                "gene_symbol": "CLTCL1",
                "hgnc_symbol": "CLTCL1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "22:19166986-19279239",
                            "ensembl_id": "ENSG00000070371"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "22:19179473-19291716",
                            "ensembl_id": "ENSG00000070371"
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                    }
                },
                "hgnc_date_symbol_changed": "1995-09-08"
            },
            "penetrance": null,
            "phenotypes": [
                "Congenital insensitivity to pain"
            ],
            "transcript": null,
            "entity_name": "CLTCL1",
            "entity_type": "gene",
            "publications": [
                "26068709"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "Unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "NHS GMS",
                "London North GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "RNF163",
                    "ZCCHC22",
                    "CNBP1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13164",
                "gene_name": "CCHC-type zinc finger nucleic acid binding protein",
                "omim_gene": [
                    "116955"
                ],
                "alias_name": null,
                "gene_symbol": "CNBP",
                "hgnc_symbol": "CNBP",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:128888327-128902765",
                            "ensembl_id": "ENSG00000169714"
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                    },
                    "GRch38": {
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                            "location": "3:129169484-129183922",
                            "ensembl_id": "ENSG00000169714"
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                    }
                },
                "hgnc_date_symbol_changed": "2006-06-29"
            },
            "penetrance": null,
            "phenotypes": [
                "Myotonia",
                "MYOTONIC DYSTROPHY 2  (DM2)"
            ],
            "transcript": null,
            "entity_name": "CNBP",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "Other - please specifiy in evaluation comments",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "NHS GMS",
                "London North GLH"
            ],
            "gene_data": {
                "alias": [
                    "CST6",
                    "PME"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2482",
                "gene_name": "cystatin B",
                "omim_gene": [
                    "601145"
                ],
                "alias_name": [
                    "stefin B"
                ],
                "gene_symbol": "CSTB",
                "hgnc_symbol": "CSTB",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "21:45192393-45196326",
                            "ensembl_id": "ENSG00000160213"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "21:43772511-43776445",
                            "ensembl_id": "ENSG00000160213"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1996-12-12"
            },
            "penetrance": null,
            "phenotypes": [],
            "transcript": null,
            "entity_name": "CSTB",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "NHS GMS",
                "London North GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "DMK",
                    "DM1PK",
                    "MDPK",
                    "MT-PK"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2933",
                "gene_name": "DM1 protein kinase",
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                    "myotonin protein kinase A",
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        {
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            "entity_name": "RETREG1",
            "entity_type": "gene",
            "publications": [
                "24327336",
                "21115472",
                "19838196"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "NHS GMS",
                "London North GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "RYR",
                    "PPP1R137"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10483",
                "gene_name": "ryanodine receptor 1",
                "omim_gene": [
                    "180901"
                ],
                "alias_name": [
                    "protein phosphatase 1, regulatory subunit 137"
                ],
                "gene_symbol": "RYR1",
                "hgnc_symbol": "RYR1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:38924339-39078204",
                            "ensembl_id": "ENSG00000196218"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:38433699-38587564",
                            "ensembl_id": "ENSG00000196218"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1989-12-01"
            },
            "penetrance": null,
            "phenotypes": [
                "Central core disease of muscle, 117000"
            ],
            "transcript": null,
            "entity_name": "RYR1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "NHS GMS",
                "London North GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "Nav1.8",
                    "hPN3",
                    "SNS",
                    "PN3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10582",
                "gene_name": "sodium voltage-gated channel alpha subunit 10",
                "omim_gene": [
                    "604427"
                ],
                "alias_name": null,
                "gene_symbol": "SCN10A",
                "hgnc_symbol": "SCN10A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:38738293-38835501",
                            "ensembl_id": "ENSG00000185313"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:38696802-38794010",
                            "ensembl_id": "ENSG00000185313"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1996-04-12"
            },
            "penetrance": null,
            "phenotypes": [
                "Painful small fibre neuropathy",
                "SFN",
                "Small fibre neuropathy",
                "Familial episodic pain syndrome-2",
                "Episodic pain syndrome, familial, 2, 615551"
            ],
            "transcript": null,
            "entity_name": "SCN10A",
            "entity_type": "gene",
            "publications": [
                "24776970",
                "27598514",
                "24813307",
                "28665811",
                "23115331",
                "26711856",
                "25316021",
                "24006052",
                "25250524"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "NHS GMS",
                "London North GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "Nav1.9",
                    "NaN",
                    "SNS-2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10583",
                "gene_name": "sodium voltage-gated channel alpha subunit 11",
                "omim_gene": [
                    "604385"
                ],
                "alias_name": null,
                "gene_symbol": "SCN11A",
                "hgnc_symbol": "SCN11A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:38887260-38992052",
                            "ensembl_id": "ENSG00000168356"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:38845769-38950561",
                            "ensembl_id": "ENSG00000168356"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-11-06"
            },
            "penetrance": null,
            "phenotypes": [
                "Familial episodic pain syndrome",
                "Episodic pain syndrome, familial, 3, 615552",
                "Hereditary sensory and autonomic neuropathy type VII",
                "Neuropathy, hereditary sensory and autonomic, type VII, 615548"
            ],
            "transcript": null,
            "entity_name": "SCN11A",
            "entity_type": "gene",
            "publications": [
                "24776970",
                "24207120",
                "27503742",
                "28665811",
                "24813307",
                "24036948",
                "25316021",
                "26645915",
                "28298626"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "NHS GMS",
                "London North GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "Nav1.4",
                    "HYPP",
                    "SkM1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10591",
                "gene_name": "sodium voltage-gated channel alpha subunit 4",
                "omim_gene": [
                    "603967"
                ],
                "alias_name": null,
                "gene_symbol": "SCN4A",
                "hgnc_symbol": "SCN4A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:62015914-62050278",
                            "ensembl_id": "ENSG00000007314"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:63938554-63972918",
                            "ensembl_id": "ENSG00000007314"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1990-09-30"
            },
            "penetrance": null,
            "phenotypes": [
                "Thyrotoxic Periodic Paralysis, Susceptibility To, 2",
                "Hypokalemic periodic paralysis, type 2, 613",
                "Potassium-Aggravated Myotonia",
                "Hyperkalemic periodic paralysis, type 2, 170500",
                "Myasthenic syndrome, acetazolamide-responsive, 614198",
                "Hyperkalemic Periodic Paralysis",
                "Episodic weakness",
                "Myotonia",
                "Hypokalemic Periodic Paralysis"
            ],
            "transcript": null,
            "entity_name": "SCN4A",
            "entity_type": "gene",
            "publications": [
                "17395131",
                "15534250"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "NHS GMS",
                "London North GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "Nav1.7",
                    "PN1",
                    "NE-NA",
                    "NENA",
                    "ETHA"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10597",
                "gene_name": "sodium voltage-gated channel alpha subunit 9",
                "omim_gene": [
                    "603415"
                ],
                "alias_name": null,
                "gene_symbol": "SCN9A",
                "hgnc_symbol": "SCN9A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:167051695-167232503",
                            "ensembl_id": "ENSG00000169432"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:166195185-166375993",
                            "ensembl_id": "ENSG00000169432"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1996-04-12"
            },
            "penetrance": null,
            "phenotypes": [
                "Paroxysmal extreme pain disorder, 167400",
                "Paroxysmal Extreme Pain Disorder",
                "Congenital Indifference to Pain",
                "Erythermalgia, primary, AD, 133020",
                "Paroxysmal extreme pain disorder, AD, 167400",
                "Small fiber neuropathy, AD,133020",
                "Febrile seizures, familial, 3B, 613863",
                "Dysosteosclerosis",
                "Insensitivity to pain, congenital, AR, 243000",
                "Epilepsy, generalized, with febrile seizures plus, type 7, 613863",
                "Erythermalgia, Primary",
                "HSAN2D, autosomal recessive, AR, 243000",
                "Insensitivity to pain, channelopathy-associated, 243000",
                "Erythermalgia, primary, 133020",
                "Hereditary Sensory Neuropathy"
            ],
            "transcript": null,
            "entity_name": "SCN9A",
            "entity_type": "gene",
            "publications": [
                "17145499",
                "16392115",
                "17679678",
                "17470132",
                "24813307",
                "28665811",
                "25316021",
                "16216943",
                "1536168",
                "24817410",
                "15958509",
                "28235406",
                "23596073",
                "17167479",
                "14985375"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "new-gene-name"
            ],
            "evidence": [
                "Expert Review Red",
                "NHS GMS",
                "London North GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "MSF1",
                    "KIAA0991",
                    "PNUTL4",
                    "AF17q25",
                    "SeptD1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7323",
                "gene_name": "septin 9",
                "omim_gene": [
                    "604061"
                ],
                "alias_name": [
                    "Ov/Br septin"
                ],
                "gene_symbol": "SEPT9",
                "hgnc_symbol": "SEPT9",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:75276651-75496678",
                            "ensembl_id": "ENSG00000184640"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:77280569-77500596",
                            "ensembl_id": "ENSG00000184640"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-01-12"
            },
            "penetrance": null,
            "phenotypes": [
                "Amyotrophy, hereditary neuralgic, 162100",
                "Hereditary neuralgic amyotrophy"
            ],
            "transcript": null,
            "entity_name": "SEPT9",
            "entity_type": "gene",
            "publications": [
                "19451530",
                "21556032",
                "16186812"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "NHS GMS",
                "London North GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "5-HTT",
                    "SERT1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11050",
                "gene_name": "solute carrier family 6 member 4",
                "omim_gene": [
                    "182138"
                ],
                "alias_name": [
                    "serotonin transporter 1"
                ],
                "gene_symbol": "SLC6A4",
                "hgnc_symbol": "SLC6A4",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:28521337-28563020",
                            "ensembl_id": "ENSG00000108576"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:30194319-30236002",
                            "ensembl_id": "ENSG00000108576"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-03-16"
            },
            "penetrance": null,
            "phenotypes": [
                "SLC6A4-Related Behavior Disorders",
                "{Anxiety-related personality traits} 607834",
                "{Obsessive-compulsive disorder}"
            ],
            "transcript": null,
            "entity_name": "SLC6A4",
            "entity_type": "gene",
            "publications": [
                "17101915",
                "16642437",
                "15642926"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments"
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "NHS GMS",
                "London North GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "SDR38C1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11257",
                "gene_name": "sepiapterin reductase",
                "omim_gene": [
                    "182125"
                ],
                "alias_name": [
                    "short chain dehydrogenase/reductase family 38C, member 1",
                    "Sepiapterin reductase (L-erythro-7,8-dihydrobiopterin forming)"
                ],
                "gene_symbol": "SPR",
                "hgnc_symbol": "SPR",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:73114489-73119287",
                            "ensembl_id": "ENSG00000116096"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:72887360-72892158",
                            "ensembl_id": "ENSG00000116096"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-12-05"
            },
            "penetrance": null,
            "phenotypes": [
                "Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716"
            ],
            "transcript": null,
            "entity_name": "SPR",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "NHS GMS",
                "London North GLH",
                "Wessex and West Midlands GLH"
            ],
            "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"
            },
            "penetrance": null,
            "phenotypes": [
                "HSAN 1",
                "Neuropathy, hereditary sensory and autonomic, type IA, 162400",
                "Hereditary sensory neuropathy type IA"
            ],
            "transcript": null,
            "entity_name": "SPTLC1",
            "entity_type": "gene",
            "publications": [
                "11242114",
                "15037712",
                "11242106"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "NHS GMS",
                "London North GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "KIAA0526",
                    "LCB2",
                    "LCB2A",
                    "hLCB2a"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11278",
                "gene_name": "serine palmitoyltransferase long chain base subunit 2",
                "omim_gene": [
                    "605713"
                ],
                "alias_name": null,
                "gene_symbol": "SPTLC2",
                "hgnc_symbol": "SPTLC2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:77972340-78083116",
                            "ensembl_id": "ENSG00000100596"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "14:77505997-77616773",
                            "ensembl_id": "ENSG00000100596"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-08-01"
            },
            "penetrance": null,
            "phenotypes": [
                "HSAN 1",
                "Hereditary sensory and autonomic neuropathy type IC",
                "Neuropathy, hereditary sensory and autonomic, type IC, 613640"
            ],
            "transcript": null,
            "entity_name": "SPTLC2",
            "entity_type": "gene",
            "publications": [
                "27025386",
                "26681808",
                "20920666",
                "12207934",
                "23658386"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "NHS GMS",
                "London North GLH"
            ],
            "gene_data": {
                "alias": [
                    "TFIID"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11588",
                "gene_name": "TATA-box binding protein",
                "omim_gene": [
                    "600075"
                ],
                "alias_name": null,
                "gene_symbol": "TBP",
                "hgnc_symbol": "TBP",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:170863390-170881958",
                            "ensembl_id": "ENSG00000112592"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:170554302-170572870",
                            "ensembl_id": "ENSG00000112592"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-05-26"
            },
            "penetrance": null,
            "phenotypes": [],
            "transcript": null,
            "entity_name": "TBP",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "NHS GMS",
                "London North GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:497",
                "gene_name": "transient receptor potential cation channel subfamily A member 1",
                "omim_gene": [
                    "604775"
                ],
                "alias_name": null,
                "gene_symbol": "TRPA1",
                "hgnc_symbol": "TRPA1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:72932152-72987852",
                            "ensembl_id": "ENSG00000104321"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "8:72019917-72075617",
                            "ensembl_id": "ENSG00000104321"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-11-20"
            },
            "penetrance": null,
            "phenotypes": [
                "?Episodic pain syndrome, familial, 1, 615040",
                "Familial episodic pain syndrome type I"
            ],
            "transcript": null,
            "entity_name": "TRPA1",
            "entity_type": "gene",
            "publications": [
                "28314413",
                "20718100",
                "28436534",
                "24778270",
                "16564016",
                "20547126",
                "24564660",
                "21468319"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "NHS GMS",
                "London North GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "OTRPC4",
                    "TRP12",
                    "VROAC",
                    "VRL-2",
                    "VR-OAC",
                    "CMT2C"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:18083",
                "gene_name": "transient receptor potential cation channel subfamily V member 4",
                "omim_gene": [
                    "605427"
                ],
                "alias_name": [
                    "osmosensitive transient receptor potential channel 4"
                ],
                "gene_symbol": "TRPV4",
                "hgnc_symbol": "TRPV4",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:110220890-110271212",
                            "ensembl_id": "ENSG00000111199"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:109783085-109833401",
                            "ensembl_id": "ENSG00000111199"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-01-29"
            },
            "penetrance": null,
            "phenotypes": [
                "Hereditary motor and sensory neuropathy, type IIc, 606071",
                "sexual disinhibition",
                "confusion",
                "apathi",
                "impaired memory",
                "impaired speech",
                "compulsive eating and drinking (or decreased eating)",
                "irritability",
                "recurrent hypersomnia",
                "behavioral disturbances",
                "transient symptoms at the end, amnesia, moderate elation and insomnia",
                "Monozygotic twins concordant for Kleine-Levin Syndrome",
                "altered tactile, gustative, and olphatory perceptions",
                "normality between episodes",
                "feeling of unreality",
                "depression and anxiety"
            ],
            "transcript": null,
            "entity_name": "TRPV4",
            "entity_type": "gene",
            "publications": [
                "22547884"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "treatable"
            ],
            "evidence": [
                "Expert Review Red",
                "NHS GMS",
                "London North GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "HsT2651",
                    "CTS"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12405",
                "gene_name": "transthyretin",
                "omim_gene": [
                    "176300"
                ],
                "alias_name": null,
                "gene_symbol": "TTR",
                "hgnc_symbol": "TTR",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "18:29171689-29178974",
                            "ensembl_id": "ENSG00000118271"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "18:31591726-31599021",
                            "ensembl_id": "ENSG00000118271"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "penetrance": null,
            "phenotypes": [
                "Carpal tunnel syndrome, familial, 115430",
                "Hereditary amyloidosis",
                "Amyloidosis, hereditary, transthyretin-related, 105210",
                "Familial amyloid polyneuropathy"
            ],
            "transcript": null,
            "entity_name": "TTR",
            "entity_type": "gene",
            "publications": [
                "12771253",
                "The Metabolic and Molecular Bases of Inherited Disease. Vol. IV. 8th ed.Benson, M. D. Amyloidosis. In: Scriver, C. R et al.: New York: McGraw-Hill . 2001.",
                "25069833",
                "19365058",
                "28678039",
                "26800456",
                "8309582",
                "14640030",
                "16433699",
                "3011930",
                "30878017",
                "31131842",
                "31118583",
                "31111153",
                "30120737"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "KIAA1307",
                    "KIAA0462",
                    "RBAF600"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:30313",
                "gene_name": "ubiquitin protein ligase E3 component n-recognin 4",
                "omim_gene": [
                    "609890"
                ],
                "alias_name": null,
                "gene_symbol": "UBR4",
                "hgnc_symbol": "UBR4",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:19401000-19536770",
                            "ensembl_id": "ENSG00000127481"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:19074506-19210276",
                            "ensembl_id": "ENSG00000127481"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-06-19"
            },
            "penetrance": null,
            "phenotypes": [
                "Episodic ataxia, type 8, 616055"
            ],
            "transcript": null,
            "entity_name": "UBR4",
            "entity_type": "gene",
            "publications": [
                "23982692"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "NHS GMS",
                "London North GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "HSAN2",
                    "PPP1R167"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14540",
                "gene_name": "WNK lysine deficient protein kinase 1",
                "omim_gene": [
                    "605232"
                ],
                "alias_name": [
                    "protein phosphatase 1, regulatory subunit 167"
                ],
                "gene_symbol": "WNK1",
                "hgnc_symbol": "WNK1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:861759-1020618",
                            "ensembl_id": "ENSG00000060237"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:752593-911452",
                            "ensembl_id": "ENSG00000060237"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-01-21"
            },
            "penetrance": null,
            "phenotypes": [
                "HSAN 2",
                "Neuropathy, hereditary sensory and autonomic, type II, 201300",
                "Hereditary sensory and autonomic neuropathy type IIA"
            ],
            "transcript": null,
            "entity_name": "WNK1",
            "entity_type": "gene",
            "publications": [
                "21625937",
                "15911806",
                "18521183",
                "15455397",
                "15060842",
                "16636245",
                "16946995"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        }
    ],
    "stats": {
        "number_of_strs": 5,
        "number_of_genes": 83,
        "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": "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."
        }
    ],
    "status": "public",
    "hash_id": null,
    "regions": [
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "London North GLH",
                "NHS GMS"
            ],
            "gene_data": null,
            "chromosome": "X",
            "penetrance": null,
            "phenotypes": [
                "short stature",
                "severe intellectual disability",
                "lip-smacking",
                "exiting behavior",
                "autistic features",
                "hypotonia",
                "stereotypical hand movements",
                "eleveated serotonin levels",
                "episodes of sudden loss of muscle tone"
            ],
            "entity_name": "ISCA-37468-Loss",
            "entity_type": "region",
            "publications": [
                "20485326",
                "22365943",
                "23414621"
            ],
            "verbose_name": "Xp11.23 region (includes MAOA and MAOB) Loss",
            "confidence_level": "1",
            "type_of_variants": "cnv_loss",
            "grch37_coordinates": null,
            "grch38_coordinates": [
                43654906,
                43882474
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
            "mode_of_pathogenicity": null,
            "triplosensitivity_score": "",
            "haploinsufficiency_score": "3",
            "required_overlap_percentage": 80
        }
    ],
    "version": "1.2",
    "disease_group": "",
    "version_created": "2020-02-27T09:15:48.741551Z",
    "disease_sub_group": "",
    "relevant_disorders": [
        "Paroxysmal neurological disorders",
        "pain disorders and sleep disorders",
        "R66"
    ],
    "signed_off": "2020-02-27"
}