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                        "name": "GMS Cancer Germline Virtual",
                        "slug": "gms-cancer-germline-virtual",
                        "description": "This is a panel used for WGS germline analysis for the GMS."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "AU"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:5172",
                "gene_name": "HR, lysine demethylase and nuclear receptor corepressor",
                "omim_gene": [
                    "602302"
                ],
                "alias_name": null,
                "gene_symbol": "HR",
                "hgnc_symbol": "HR",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:21971928-21990897",
                            "ensembl_id": "ENSG00000168453"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "8:22114415-22133384",
                            "ensembl_id": "ENSG00000168453"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-07-11"
            },
            "entity_type": "gene",
            "entity_name": "HR",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "Other - please provide details in the comments",
            "publications": [],
            "evidence": [
                "Expert Review Green"
            ],
            "phenotypes": [
                "HYPT4",
                "Marie Unna hereditary hypotrichosis 1 (MUHH1)",
                "Marie Unna hereditary hypotrichosis (MUHH)",
                "Hypotrichosis 4, 146550"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 553,
                "hash_id": null,
                "name": "Ectodermal dysplasia",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.19",
                "version_created": "2021-01-18T17:10:00.630235Z",
                "relevant_disorders": [
                    "R163"
                ],
                "stats": {
                    "number_of_genes": 76,
                    "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."
                    },
                    {
                        "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."
                    },
                    {
                        "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)"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CYB560",
                    "cybL"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10682",
                "gene_name": "succinate dehydrogenase complex subunit C",
                "omim_gene": [
                    "602413"
                ],
                "alias_name": [
                    "succinate dehydrogenase cytochrome b560 subunit",
                    "succinate dehydrgenase cytochrome b",
                    "large subunit of cytochrome b"
                ],
                "gene_symbol": "SDHC",
                "hgnc_symbol": "SDHC",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:161284047-161332984",
                            "ensembl_id": "ENSG00000143252"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:161314257-161375340",
                            "ensembl_id": "ENSG00000143252"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-10-21"
            },
            "entity_type": "gene",
            "entity_name": "SDHC",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "27899189"
            ],
            "evidence": [
                "Expert Review Amber",
                "UKGTN"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 521,
                "hash_id": null,
                "name": "Inherited renal cancer",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.4",
                "version_created": "2020-03-04T13:47:50.897439Z",
                "relevant_disorders": [
                    "R224"
                ],
                "stats": {
                    "number_of_genes": 16,
                    "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."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3579",
                "gene_name": "fumarylacetoacetate hydrolase",
                "omim_gene": [
                    "613871"
                ],
                "alias_name": [
                    "fumarylacetoacetase"
                ],
                "gene_symbol": "FAH",
                "hgnc_symbol": "FAH",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:80444832-80479288",
                            "ensembl_id": "ENSG00000103876"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:80152490-80186946",
                            "ensembl_id": "ENSG00000103876"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1989-06-07"
            },
            "entity_type": "gene",
            "entity_name": "FAH",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "26589959",
                "23311542",
                "11112833",
                "28755194",
                "28493866",
                "15759101"
            ],
            "evidence": [
                "Expert Review Green",
                "NHS GMS"
            ],
            "phenotypes": [
                "Neonatal and Adult Cholestasis",
                "Tyrosinaemia, Type 1, 276700",
                "Cholestasis"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 544,
                "hash_id": null,
                "name": "Cholestasis",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.76",
                "version_created": "2020-12-24T11:53:20.505490Z",
                "relevant_disorders": [
                    "R171"
                ],
                "stats": {
                    "number_of_genes": 72,
                    "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."
                    },
                    {
                        "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."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "TRA2.10",
                    "MGC26544",
                    "TLX"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6953",
                "gene_name": "CD46 molecule",
                "omim_gene": [
                    "120920"
                ],
                "alias_name": null,
                "gene_symbol": "CD46",
                "hgnc_symbol": "CD46",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:207925402-207968858",
                            "ensembl_id": "ENSG00000117335"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:207752057-207795513",
                            "ensembl_id": "ENSG00000117335"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-02-09"
            },
            "entity_type": "gene",
            "entity_name": "CD46",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "24172683",
                "22456601",
                "14615110",
                "21902819"
            ],
            "evidence": [
                "Expert Review Red",
                "Expert list"
            ],
            "phenotypes": [
                "Haemolytic uraemic syndrome",
                "aHUS",
                "Hemolytic uremic syndrome, atypical, susceptibility to, 2, 612922",
                "C3 glomerulopathy",
                "C3G",
                "Immune complex MPGN",
                "IC-MPGN"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 83,
                "hash_id": "58c805938f6203413360f1cb",
                "name": "Membranoproliferative glomerulonephritis",
                "disease_group": "Renal and urinary tract disorders",
                "disease_sub_group": "Syndromes with prominent renal abnormalities",
                "status": "public",
                "version": "2.16",
                "version_created": "2021-01-19T14:54:35.955812Z",
                "relevant_disorders": [
                    "PMG",
                    "MPGN",
                    "Primary Membranoproliferative Glomerulonephritis",
                    "Primary membranoproliferative glomerulonephritis",
                    "R197"
                ],
                "stats": {
                    "number_of_genes": 9,
                    "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."
                    },
                    {
                        "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": "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."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "TRAPG"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11325",
                "gene_name": "signal sequence receptor subunit 3",
                "omim_gene": [
                    "606213"
                ],
                "alias_name": [
                    "translocon-associated protein gamma"
                ],
                "gene_symbol": "SSR3",
                "hgnc_symbol": "SSR3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:156257929-156272973",
                            "ensembl_id": "ENSG00000114850"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:156540140-156555184",
                            "ensembl_id": "ENSG00000114850"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-11-04"
            },
            "entity_type": "gene",
            "entity_name": "SSR3",
            "confidence_level": "0",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "30945312"
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            "evidence": [
                "Literature"
            ],
            "phenotypes": [
                "Congenital disorder of glycosylation, type Iu, MIM#615042"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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            "panel": {
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                "hash_id": "58346b8b8f62036225ca8a7d",
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                "disease_group": "Metabolic disorders",
                "disease_sub_group": "Specific metabolic abnormalities",
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                "version": "2.26",
                "version_created": "2021-01-18T14:26:05.407063Z",
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                ],
                "stats": {
                    "number_of_genes": 111,
                    "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."
                    },
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    },
                    {
                        "name": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "TMPT27",
                    "TPARL",
                    "GDT1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:30760",
                "gene_name": "transmembrane protein 165",
                "omim_gene": [
                    "614726"
                ],
                "alias_name": [
                    "TPA regulated locus"
                ],
                "gene_symbol": "TMEM165",
                "hgnc_symbol": "TMEM165",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "4:56262124-56319564",
                            "ensembl_id": "ENSG00000134851"
                        }
                    },
                    "GRch38": {
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                            "location": "4:55395957-55453397",
                            "ensembl_id": "ENSG00000134851"
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                    }
                },
                "hgnc_date_symbol_changed": "2006-07-17"
            },
            "entity_type": "gene",
            "entity_name": "TMEM165",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "27401145",
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            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
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                "Emory Genetics Laboratory"
            ],
            "phenotypes": [
                "Congenital disorder of glycosylation, type IIk 614727"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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            "panel": {
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                "version_created": "2021-01-18T14:26:05.407063Z",
                "relevant_disorders": [
                    "Congential disorders of glycosylation"
                ],
                "stats": {
                    "number_of_genes": 111,
                    "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."
                    },
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    },
                    {
                        "name": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "HK33",
                    "D1S2223E",
                    "PMP1",
                    "PMPI",
                    "PXMP1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9713",
                "gene_name": "peroxisomal biogenesis factor 19",
                "omim_gene": [
                    "600279"
                ],
                "alias_name": [
                    "housekeeping gene, 33kD"
                ],
                "gene_symbol": "PEX19",
                "hgnc_symbol": "PEX19",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                    },
                    "GRch38": {
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                            "location": "1:160276812-160286348",
                            "ensembl_id": "ENSG00000162735"
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                    }
                },
                "hgnc_date_symbol_changed": "2004-03-19"
            },
            "entity_type": "gene",
            "entity_name": "PEX19",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Peroxisome biogenesis disorder"
            ],
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            "panel": {
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                "hash_id": "553f979fbb5a1616e5ed45f8",
                "name": "Cataracts",
                "disease_group": "Ophthalmological disorders",
                "disease_sub_group": "Anterior segment abnormalities",
                "status": "public",
                "version": "2.58",
                "version_created": "2021-01-20T10:29:03.760265Z",
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                ],
                "stats": {
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                    "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."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ20285",
                    "KIAA1575"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:20893",
                "gene_name": "BCL6 corepressor",
                "omim_gene": [
                    "300485"
                ],
                "alias_name": null,
                "gene_symbol": "BCOR",
                "hgnc_symbol": "BCOR",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:39909068-40036582",
                            "ensembl_id": "ENSG00000183337"
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                    },
                    "GRch38": {
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                            "location": "X:40049815-40177329",
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                    }
                },
                "hgnc_date_symbol_changed": "2003-05-22"
            },
            "entity_type": "gene",
            "entity_name": "BCOR",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN"
            ],
            "phenotypes": [
                "Microphthalmia syndromic 2",
                "Microphthalmia syndromic type 2",
                "syndromic microphthalmia-2, 300166"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
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            "panel": {
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                "version": "2.58",
                "version_created": "2021-01-20T10:29:03.760265Z",
                "relevant_disorders": [
                    "R31"
                ],
                "stats": {
                    "number_of_genes": 191,
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                    "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."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "PR55-BETA",
                    "PR52B",
                    "B55beta"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9305",
                "gene_name": "protein phosphatase 2 regulatory subunit Bbeta",
                "omim_gene": [
                    "604325"
                ],
                "alias_name": [
                    "PP2A subunit B isoform beta"
                ],
                "gene_symbol": "PPP2R2B",
                "hgnc_symbol": "PPP2R2B",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "ensembl_id": "ENSG00000156475"
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                    },
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                            "ensembl_id": "ENSG00000156475"
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                "hgnc_date_symbol_changed": "1993-01-25"
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            "entity_type": "gene",
            "entity_name": "PPP2R2B",
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            "penetrance": "Complete",
            "mode_of_pathogenicity": "Other - please provide details in the comments",
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            "tags": [
                "watchlist",
                "currently-ngs-unreportable",
                "nucleotide-repeat-expansion"
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                "disease_sub_group": "Motor Disorders of the CNS",
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                    "number_of_regions": 3
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                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
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                ]
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            "transcript": null
        },
        {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4421",
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                "omim_gene": [
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                ],
                "alias_name": null,
                "gene_symbol": "GNRHR",
                "hgnc_symbol": "GNRHR",
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                "ensembl_genes": {
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                            "location": "4:68605046-68620078",
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                    },
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                "hgnc_date_symbol_changed": "1994-01-15"
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            "entity_type": "gene",
            "entity_name": "GNRHR",
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            "penetrance": "Complete",
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                "version": "1.29",
                "version_created": "2020-12-07T14:33:23.160605Z",
                "relevant_disorders": [
                    "Kallmann syndrome",
                    "Kallmann syndrom",
                    "Idiopathic hypogonadotropic hypogonadism"
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                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
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        {
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                "omim_gene": [
                    "311770"
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                "alias_name": [
                    "paroxysmal nocturnal hemoglobinuria",
                    "phosphatidylinositol N-acetylglucosaminyltransferase"
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                "gene_symbol": "PIGA",
                "hgnc_symbol": "PIGA",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                "Expert list"
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                "version": "1.156",
                "version_created": "2019-08-09T13:55:23.938344Z",
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                    "Inherited platelet disorders",
                    "Monogenic thrombophilia",
                    "Inherited bleeding and or platelet disorders",
                    "Unprovoked Thrombosis before 40",
                    "Monogenic venous thrombosis"
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                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
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                ]
            },
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        {
            "gene_data": {
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                    "CMD1O"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:60",
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                "omim_gene": [
                    "601439"
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                "alias_name": [
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                "gene_symbol": "ABCC9",
                "hgnc_symbol": "ABCC9",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "12:21950335-22094336",
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                    },
                    "GRch38": {
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                },
                "hgnc_date_symbol_changed": "1999-10-26"
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            "entity_type": "gene",
            "entity_name": "ABCC9",
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            "mode_of_pathogenicity": "Other",
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                "19862833",
                "16301704"
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            "evidence": [
                "North West GLH",
                "Expert Review Red",
                "Brugada syndrome (Version 1.7)",
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            "phenotypes": [
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                "version_created": "2020-12-24T14:38:54.580902Z",
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                    "number_of_regions": 0
                },
                "types": [
                    {
                        "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."
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                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
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                    {
                        "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",
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                        "description": "This panel is a component of a Super Panel"
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                ]
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            "transcript": null
        },
        {
            "gene_data": {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:966",
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                    "209901"
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                "gene_symbol": "BBS1",
                "hgnc_symbol": "BBS1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "11:66278077-66301098",
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                    },
                    "GRch38": {
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                            "location": "11:66510606-66533627",
                            "ensembl_id": "ENSG00000174483"
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                    }
                },
                "hgnc_date_symbol_changed": "1994-01-28"
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            "entity_type": "gene",
            "entity_name": "BBS1",
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            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "Expert"
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                    {
                        "name": "GMS Rare Disease",
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                    },
                    {
                        "name": "Component Of Super Panel",
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                        "description": "This panel is a component of a Super Panel"
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                    {
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                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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                ]
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        {
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                "IUIS Classification December 2019",
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                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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                ]
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                    {
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                    {
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                    "AGO61"
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                "hgnc_id": "HGNC:25902",
                "gene_name": "protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)",
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                    "GRch38": {
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                            "ensembl_id": "ENSG00000144647"
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                    }
                },
                "hgnc_date_symbol_changed": "2013-08-22"
            },
            "entity_type": "gene",
            "entity_name": "POMGNT2",
            "confidence_level": "3",
            "penetrance": "Complete",
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                "27066570"
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                "Walker-Warburg syndrome"
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        {
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                "types": [
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                    "602717"
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                    "JAM-C",
                    "JAMC"
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                    {
                        "name": "Rare Disease 100K",
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                    {
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                "gene_symbol": "CISD2",
                "hgnc_symbol": "CISD2",
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            "penetrance": "Complete",
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                "Emory Genetics Laboratory"
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                    {
                        "name": "GMS Rare Disease",
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        {
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                    "FLJ23590"
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                "hgnc_id": "HGNC:966",
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                    "number_of_regions": 0
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            "gene_data": null,
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            "entity_name": "ISCA-37396-Loss",
            "verbose_name": "15q24 recurrent region (A-D) (includes SIN3A) Loss",
            "confidence_level": "3",
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            "haploinsufficiency_score": "3",
            "triplosensitivity_score": null,
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                "22180641",
                "19557438",
                "19233321"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Chromosome 15q24 deletion syndrome, 613406",
                "PMID: 22180641 intellectual disability, growth retardation, unusual facial morphology",
                "developmental delay, severe speech problems",
                "PMID:19557438 Developmental delay, short stature, hypotonia, digital abnormalities, joint laxity, genital abnormalities, characteristic facial features",
                "PMID:614294 Developmental delay, loose connective tissue, digital and genital anomalies, distinct facial gestalt, congenital diaphragmatic hernia"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "chromosome": "15",
            "grch37_coordinates": null,
            "grch38_coordinates": [
                72671374,
                75680568
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            "tags": [],
            "panel": {
                "id": 251,
                "hash_id": "57f4dbd18f62036d37cfe4e4",
                "name": "Deafness and congenital structural abnormalities",
                "disease_group": "Hearing and ear disorders",
                "disease_sub_group": "Deafness and congenital structural abnormalities",
                "status": "public",
                "version": "1.17",
                "version_created": "2019-06-20T15:10:56.166309Z",
                "relevant_disorders": [
                    "Bilateral microtia",
                    "Ear malformations with hearing impairment",
                    "Ear malformations",
                    "Familial hemifacial microsomia"
                ],
                "stats": {
                    "number_of_genes": 54,
                    "number_of_strs": 0,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": null,
            "entity_type": "region",
            "entity_name": "ISCA-37431-Loss",
            "verbose_name": "17q11.2 recurrent region (includes NF1) Loss",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "haploinsufficiency_score": "3",
            "triplosensitivity_score": "",
            "required_overlap_percentage": 80,
            "type_of_variants": "cnv_loss",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "ClinGen"
            ],
            "phenotypes": [
                "dysmorphic features, cardiac anomalies and mental retardation",
                "613675",
                "variable facial dysmorphism,  cafe-au-lait spots, neurofibromas and Lisch nodules in the iris, mental retardation, developmental delay, an excessive number of early-onset neurofibromas and an increased risk for malignant peripheral nerve sheath tumors",
                "NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME",
                "NF1 MICRODELETION SYNDROME",
                "Chromosome 17q11.2 deletion syndrome, 1.4Mb"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "chromosome": "17",
            "grch37_coordinates": null,
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                30835804,
                31891648
            ],
            "tags": [],
            "panel": {
                "id": 48,
                "hash_id": "564cbd3622c1fc10dcb42ac7",
                "name": "RASopathies",
                "disease_group": "Dysmorphic and congenital abnormality syndromes",
                "disease_sub_group": "RASopathies",
                "status": "public",
                "version": "1.74",
                "version_created": "2020-11-24T12:14:13.268000Z",
                "relevant_disorders": [
                    "Cardio-facio-cutaneous syndrome",
                    "Costello syndrome",
                    "LEOPARD syndrome",
                    "Legius syndrome",
                    "Noonan syndrome",
                    "Noonan syndrome plus other features"
                ],
                "stats": {
                    "number_of_genes": 23,
                    "number_of_strs": 0,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
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                    }
                ]
            }
        }
    ]
}