Search Entities

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            "gene_data": {
                "alias": [
                    "PBP",
                    "Pc-1",
                    "TRPP1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9008",
                "gene_name": "polycystin 1, transient receptor potential channel interacting",
                "omim_gene": [
                    "601313"
                ],
                "alias_name": [
                    "polycystin 1",
                    "transient receptor potential cation channel, subfamily P, member 1"
                ],
                "gene_symbol": "PKD1",
                "hgnc_symbol": "PKD1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:2138711-2185899",
                            "ensembl_id": "ENSG00000008710"
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                    "GRch38": {
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                            "location": "16:2088710-2135898",
                            "ensembl_id": "ENSG00000008710"
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                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "PKD1",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "ClinGen",
                "Expert Review Red"
            ],
            "phenotypes": [
                "Familial thoracic aortic aneurysm and aortic dissection"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 210,
                "hash_id": "594be3878f62037ee3e7e72f",
                "name": "ClinGen_Familial thoracic aortic aneurysm and aortic dissection",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "0.10",
                "version_created": "2017-11-05T02:37:20.232365Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 53,
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                    "number_of_regions": 0
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                "types": [
                    {
                        "name": "ClinGen Curated genes",
                        "slug": "clingen-curated-genes",
                        "description": "ClinGen Curated genes"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FAD",
                    "FAD1",
                    "BRCC2",
                    "XRCC11"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1101",
                "gene_name": "BRCA2, DNA repair associated",
                "omim_gene": [
                    "600185"
                ],
                "alias_name": [
                    "BRCA1/BRCA2-containing complex, subunit 2"
                ],
                "gene_symbol": "BRCA2",
                "hgnc_symbol": "BRCA2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "13:32889611-32973805",
                            "ensembl_id": "ENSG00000139618"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "13:32315474-32400266",
                            "ensembl_id": "ENSG00000139618"
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                    }
                },
                "hgnc_date_symbol_changed": "1994-10-17"
            },
            "entity_type": "gene",
            "entity_name": "BRCA2",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Breast cancer"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 55,
                "hash_id": "596f82e88f620352d0e3eeb1",
                "name": "Breast cancer pertinent cancer susceptibility",
                "disease_group": "Cancer Programme",
                "disease_sub_group": "Pertinent cancer susceptibility gene panel",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T02:37:19.933392Z",
                "relevant_disorders": [
                    "Breast"
                ],
                "stats": {
                    "number_of_genes": 5,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Cancer Germline 100K",
                        "slug": "cancer-germline-100k",
                        "description": "Cancer Germline 100K"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "HNPCC",
                    "HNPCC1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7325",
                "gene_name": "mutS homolog 2",
                "omim_gene": [
                    "609309"
                ],
                "alias_name": null,
                "gene_symbol": "MSH2",
                "hgnc_symbol": "MSH2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:47630108-47789450",
                            "ensembl_id": "ENSG00000095002"
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                        "90": {
                            "location": "2:47402969-47562311",
                            "ensembl_id": "ENSG00000095002"
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                },
                "hgnc_date_symbol_changed": "1993-07-28"
            },
            "entity_type": "gene",
            "entity_name": "MSH2",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Colorectal cancer"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 244,
                "hash_id": "596f84848f620352d0e3eeba",
                "name": "Colorectal cancer pertinent cancer susceptibility",
                "disease_group": "Cancer Programme",
                "disease_sub_group": "Pertinent cancer susceptibility gene panel",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T02:37:20.290684Z",
                "relevant_disorders": [
                    "Colorectal"
                ],
                "stats": {
                    "number_of_genes": 13,
                    "number_of_strs": 0,
                    "number_of_regions": 0
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                "types": [
                    {
                        "name": "Cancer Germline 100K",
                        "slug": "cancer-germline-100k",
                        "description": "Cancer Germline 100K"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CPAP",
                    "BM032",
                    "LAP",
                    "LIP1",
                    "Sas-4",
                    "SASS4",
                    "SCKL4"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17272",
                "gene_name": "centromere protein J",
                "omim_gene": [
                    "609279"
                ],
                "alias_name": [
                    "centrosomal P4.1-associated protein"
                ],
                "gene_symbol": "CENPJ",
                "hgnc_symbol": "CENPJ",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "13:25457171-25497018",
                            "ensembl_id": "ENSG00000151849"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "13:24882284-24922889",
                            "ensembl_id": "ENSG00000151849"
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                    }
                },
                "hgnc_date_symbol_changed": "2002-02-15"
            },
            "entity_type": "gene",
            "entity_name": "CENPJ",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "20522431"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "seckel syndrome"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 131,
                "hash_id": "553f9744bb5a1616e5ed45e8",
                "name": "IUGR and IGF abnormalities",
                "disease_group": "Endocrine disorders",
                "disease_sub_group": "Growth hormone disorders",
                "status": "public",
                "version": "1.33",
                "version_created": "2020-10-15T09:03:06.267166Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 110,
                    "number_of_strs": 0,
                    "number_of_regions": 5
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                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "NESP55",
                    "NESP",
                    "GNASXL",
                    "GPSA",
                    "SCG6",
                    "SgVI"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4392",
                "gene_name": "GNAS complex locus",
                "omim_gene": [
                    "139320"
                ],
                "alias_name": [
                    "secretogranin VI",
                    "G protein subunit alpha S"
                ],
                "gene_symbol": "GNAS",
                "hgnc_symbol": "GNAS",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "20:57414773-57486247",
                            "ensembl_id": "ENSG00000087460"
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                    "GRch38": {
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                            "location": "20:58839718-58911192",
                            "ensembl_id": "ENSG00000087460"
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                },
                "hgnc_date_symbol_changed": "2001-12-20"
            },
            "entity_type": "gene",
            "entity_name": "GNAS",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "Other - please provide details in the comments",
            "publications": [
                "10673080"
            ],
            "evidence": [
                "Expert Review Amber",
                "Expert list"
            ],
            "phenotypes": [
                "McCune-Albright syndrome",
                "Cholestasis"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 385,
                "hash_id": null,
                "name": "Neonatal cholestasis",
                "disease_group": "Gastroenterological disorders",
                "disease_sub_group": "Liver disease",
                "status": "public",
                "version": "1.4",
                "version_created": "2019-06-20T15:13:26.764332Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 90,
                    "number_of_strs": 0,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "IL-23R"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:19100",
                "gene_name": "interleukin 23 receptor",
                "omim_gene": [
                    "607562"
                ],
                "alias_name": null,
                "gene_symbol": "IL23R",
                "hgnc_symbol": "IL23R",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:67632083-67725662",
                            "ensembl_id": "ENSG00000162594"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "1:67138907-67259979",
                            "ensembl_id": "ENSG00000162594"
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                },
                "hgnc_date_symbol_changed": "2004-10-18"
            },
            "entity_type": "gene",
            "entity_name": "IL23R",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "32086639",
                "32048120"
            ],
            "evidence": [
                "IUIS Classification December 2019",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Defects in intrinsic and innate immunity",
                "Mendelian susceptibility to mycobacterial disease",
                "IL-23R deficiency"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 111,
                "hash_id": "58c7fd7f8f6203413360f1b6",
                "name": "COVID-19 research",
                "disease_group": "Viral research",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.69",
                "version_created": "2020-09-17T11:07:03.392284Z",
                "relevant_disorders": [
                    "Viral susceptibility"
                ],
                "stats": {
                    "number_of_genes": 691,
                    "number_of_strs": 0,
                    "number_of_regions": 2
                },
                "types": [
                    {
                        "name": "Research",
                        "slug": "research",
                        "description": "This is a gene panel used for research."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CARMQ1",
                    "CHRMQ1",
                    "VLDLRCH"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12698",
                "gene_name": "very low density lipoprotein receptor",
                "omim_gene": [
                    "192977"
                ],
                "alias_name": null,
                "gene_symbol": "VLDLR",
                "hgnc_symbol": "VLDLR",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:2621834-2660053",
                            "ensembl_id": "ENSG00000147852"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "9:2621834-2660053",
                            "ensembl_id": "ENSG00000147852"
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                    }
                },
                "hgnc_date_symbol_changed": "1993-09-24"
            },
            "entity_type": "gene",
            "entity_name": "VLDLR",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Red",
                "UKGTN"
            ],
            "phenotypes": [
                "Cerebral Malformation Disorders"
            ],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 147,
                "hash_id": "5819a24f8f6203341de99c89",
                "name": "Cerebral vascular malformations",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Cerebrovascular disorders",
                "status": "public",
                "version": "2.5",
                "version_created": "2020-09-02T10:55:01.705675Z",
                "relevant_disorders": [
                    "Cerebrovascular disorders",
                    "Vein of Galen malformation",
                    "Cerebral arteriovenous malformations",
                    "Moyamoya disease",
                    "R336"
                ],
                "stats": {
                    "number_of_genes": 100,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CDHF5"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3049",
                "gene_name": "desmoglein 2",
                "omim_gene": [
                    "125671"
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                "alias_name": null,
                "gene_symbol": "DSG2",
                "hgnc_symbol": "DSG2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "18:29078006-29128971",
                            "ensembl_id": "ENSG00000046604"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "18:31498043-31549008",
                            "ensembl_id": "ENSG00000046604"
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                    }
                },
                "hgnc_date_symbol_changed": "1991-11-15"
            },
            "entity_type": "gene",
            "entity_name": "DSG2",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red"
            ],
            "phenotypes": [
                "Arrhythmogenic right ventricular dysplasia 10 Cardiomyopathy, dilated, 1BB",
                "Striate keratoderma with woolly hair"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 555,
                "hash_id": null,
                "name": "Ichthyosis and erythrokeratoderma",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.4",
                "version_created": "2020-10-15T19:12:43.003505Z",
                "relevant_disorders": [
                    "R165"
                ],
                "stats": {
                    "number_of_genes": 67,
                    "number_of_strs": 0,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    },
                    {
                        "name": "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 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."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "SYNE-1B",
                    "KIAA0796",
                    "8B",
                    "Nesprin-1",
                    "enaptin",
                    "MYNE1",
                    "CPG2",
                    "dJ45H2.2",
                    "SCAR8",
                    "ARCA1",
                    "Nesp1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17089",
                "gene_name": "spectrin repeat containing nuclear envelope protein 1",
                "omim_gene": [
                    "608441"
                ],
                "alias_name": [
                    "myocyte nuclear envelope protein 1",
                    "nuclear envelope spectrin repeat-1"
                ],
                "gene_symbol": "SYNE1",
                "hgnc_symbol": "SYNE1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:152442819-152958936",
                            "ensembl_id": "ENSG00000131018"
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                    "GRch38": {
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                            "ensembl_id": "ENSG00000131018"
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                    }
                },
                "hgnc_date_symbol_changed": "2003-02-19"
            },
            "entity_type": "gene",
            "entity_name": "SYNE1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green"
            ],
            "phenotypes": [
                "Cerebellar Ataxia",
                "Spinocerebellar ataxia, autosomal recessive 8"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 477,
                "hash_id": null,
                "name": "Ataxia and cerebellar anomalies - narrow panel",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "2.24",
                "version_created": "2020-10-08T09:18:34.426705Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 243,
                    "number_of_strs": 13,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    },
                    {
                        "name": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    },
                    {
                        "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": [
                    "PTX1",
                    "POTX"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9004",
                "gene_name": "paired like homeodomain 1",
                "omim_gene": [
                    "602149"
                ],
                "alias_name": null,
                "gene_symbol": "PITX1",
                "hgnc_symbol": "PITX1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:134363425-134370503",
                            "ensembl_id": "ENSG00000069011"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "5:135027735-135034813",
                            "ensembl_id": "ENSG00000069011"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-02-27"
            },
            "entity_type": "gene",
            "entity_name": "PITX1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "23587911",
                "23022097"
            ],
            "evidence": [
                "Victorian Clinical Genetics Services",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN",
                "Expert Review Green",
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                    "SF",
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                    "KL-1",
                    "FPH2",
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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)"
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        {
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                "hgnc_symbol": "RABL3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "3:120405528-120461840",
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                "hgnc_date_symbol_changed": "2002-02-18"
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            "entity_type": "gene",
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                    {
                        "name": "GMS Cancer Germline Virtual",
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        {
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                "gene_symbol": "CYP27A1",
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                "hgnc_date_symbol_changed": "1991-08-22"
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                "progressive lower extremity spasticity,often disproportionate to any degree of weakness"
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                        "name": "Rare Disease 100K",
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        {
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                        "name": "GMS Rare Disease Virtual",
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                    {
                        "name": "GMS Rare Disease",
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                    {
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                        "description": "This panel is a component of a Super Panel"
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                    {
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                    {
                        "name": "GMS Rare Disease",
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                    {
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        {
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        {
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            "entity_type": "gene",
            "entity_name": "CHRNB1",
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            "penetrance": "Complete",
            "mode_of_pathogenicity": "Other - please provide details in the comments",
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                "Congenital Myasthenic Syndrome, Dominant/Recessive"
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                    "Congenital myasthenia",
                    "R80"
                ],
                "stats": {
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                    "number_of_strs": 0,
                    "number_of_regions": 0
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                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    },
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    },
                    {
                        "name": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    },
                    {
                        "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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                ]
            },
            "transcript": null
        },
        {
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                    "ATP5JG"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14247",
                "gene_name": "ATP synthase, H+ transporting, mitochondrial Fo complex subunit G",
                "omim_gene": [
                    "617473"
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                "alias_name": null,
                "gene_symbol": "ATP5L",
                "hgnc_symbol": "ATP5L",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                        "82": {
                            "location": "11:118271869-118302211",
                            "ensembl_id": "ENSG00000167283"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "11:118401154-118431496",
                            "ensembl_id": "ENSG00000167283"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-09-18"
            },
            "entity_type": "gene",
            "entity_name": "ATP5L",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Amber",
                "NHS GMS"
            ],
            "phenotypes": [
                "No OMIM phenotype"
            ],
            "mode_of_inheritance": "Unknown",
            "tags": [
                "new-gene-name"
            ],
            "panel": {
                "id": 538,
                "hash_id": null,
                "name": "Mitochondrial disorder with complex V deficiency",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.3",
                "version_created": "2020-02-17T16:12:06.214164Z",
                "relevant_disorders": [
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                ],
                "stats": {
                    "number_of_genes": 19,
                    "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": [
                    "DYNII",
                    "DYN2",
                    "CMTDIB",
                    "CMTDI1",
                    "DI-CMTB",
                    "CMT2M"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2974",
                "gene_name": "dynamin 2",
                "omim_gene": [
                    "602378"
                ],
                "alias_name": [
                    "dynamin II",
                    "cytoskeletal protein"
                ],
                "gene_symbol": "DNM2",
                "hgnc_symbol": "DNM2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:10828755-10944164",
                            "ensembl_id": "ENSG00000079805"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "19:10718079-10833488",
                            "ensembl_id": "ENSG00000079805"
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                    }
                },
                "hgnc_date_symbol_changed": "1996-10-11"
            },
            "entity_type": "gene",
            "entity_name": "DNM2",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "17932957"
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            "evidence": [
                "Expert Review Red",
                "NHS GMS",
                "Yorkshire and North East GLH",
                "Expert Review"
            ],
            "phenotypes": [
                "Centronuclear myopathy 1, 160150",
                "Centronuclear myopathy"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
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            "panel": {
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                "hash_id": "55b7a65322c1fc05fc7a1869",
                "name": "Limb girdle muscular dystrophy",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Neuromuscular disorders",
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                "version": "2.8",
                "version_created": "2020-10-06T12:49:45.896166Z",
                "relevant_disorders": [
                    "R82"
                ],
                "stats": {
                    "number_of_genes": 91,
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                    "number_of_regions": 0
                },
                "types": [
                    {
                        "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"
                    },
                    {
                        "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": [],
                "biotype": null,
                "hgnc_id": "HGNC:12309",
                "gene_name": "zinc finger HIT-type containing 3",
                "omim_gene": [
                    "604500"
                ],
                "alias_name": null,
                "gene_symbol": "ZNHIT3",
                "hgnc_symbol": "ZNHIT3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "17:34842473-34855154",
                            "ensembl_id": "ENSG00000108278"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "17:36486629-36499310",
                            "ensembl_id": "ENSG00000273611"
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                    }
                },
                "hgnc_date_symbol_changed": "2005-09-08"
            },
            "entity_type": "gene",
            "entity_name": "ZNHIT3",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "28335020"
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            "evidence": [
                "NHS GMS",
                "Expert list"
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            "phenotypes": [
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                "microcephaly"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
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                "disease_sub_group": "DNA repair disorders",
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                "version_created": "2020-10-20T15:37:25.356812Z",
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                    "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
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                    "R88"
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                    "number_of_regions": 5
                },
                "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."
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                    {
                        "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": [
                    "ENaCgamma",
                    "SCNEG"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10602",
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                "omim_gene": [
                    "600761"
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                "alias_name": null,
                "gene_symbol": "SCNN1G",
                "hgnc_symbol": "SCNN1G",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "16:23194036-23228204",
                            "ensembl_id": "ENSG00000166828"
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                    },
                    "GRch38": {
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                            "location": "16:23182715-23216883",
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                },
                "hgnc_date_symbol_changed": "1995-05-10"
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            "entity_type": "gene",
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            "penetrance": "Complete",
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                "version_created": "2020-10-20T15:15:13.868590Z",
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                    "number_of_regions": 0
                },
                "types": [
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                        "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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        {
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                },
                "types": [
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                        "name": "Rare Disease 100K",
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                ]
            },
            "transcript": null
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        {
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                "hgnc_symbol": "DNAL1",
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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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                        "description": "Rare Disease 100K"
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                ]
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                    "Likely inborn error of metabolism",
                    "R98"
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                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
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                        "name": "Component Of Super Panel",
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                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
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                "Expert Review Amber",
                "NHS GMS"
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                "types": [
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                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
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                    {
                        "name": "GMS signed-off",
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                "hgnc_id": "HGNC:27424",
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                "alias_name": null,
                "gene_symbol": "RBM20",
                "hgnc_symbol": "RBM20",
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                "ensembl_genes": {
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                        "90": {
                            "location": "10:110644397-110839469",
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                },
                "hgnc_date_symbol_changed": "2004-04-07"
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            "entity_type": "gene",
            "entity_name": "RBM20",
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            "penetrance": null,
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                "20186049",
                "27532257"
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            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "South West GLH",
                "Radboud University Medical Center, Nijmegen",
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                "North West GLH",
                "Expert list",
                "Emory Genetics Laboratory",
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                "London South GLH",
                "North West GLH"
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            "phenotypes": [
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                "Cardiomyopathy, dilated, 1DD (613172)"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
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                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
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                    },
                    {
                        "name": "Component Of Super Panel",
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                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
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                ]
            },
            "transcript": null
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        {
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                "hgnc_id": "HGNC:3604",
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                "omim_gene": [
                    "612570"
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                "gene_symbol": "FBN2",
                "hgnc_symbol": "FBN2",
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                "ensembl_genes": {
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                "hgnc_date_symbol_changed": "1991-08-21"
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            "entity_type": "gene",
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        {
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                    "XTP7"
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                            "ensembl_id": "ENSG00000149596"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "20:44111695-44187578",
                            "ensembl_id": "ENSG00000149596"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-12-08"
            },
            "entity_type": "gene",
            "entity_name": "JPH2",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "NHS GMS",
                "South West GLH",
                "Emory Genetics Laboratory"
            ],
            "phenotypes": [
                "Cardiomyopathy"
            ],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 85,
                "hash_id": "55ad205422c1fc7041340234",
                "name": "Hereditary neuropathy",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor and Sensory Disorders of the PNS",
                "status": "public",
                "version": "1.377",
                "version_created": "2020-10-06T12:52:39.515614Z",
                "relevant_disorders": [
                    "Charcot-Marie-Tooth disease"
                ],
                "stats": {
                    "number_of_genes": 277,
                    "number_of_strs": 11,
                    "number_of_regions": 2
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "LGN",
                    "Pins"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29501",
                "gene_name": "G protein signaling modulator 2",
                "omim_gene": [
                    "609245"
                ],
                "alias_name": null,
                "gene_symbol": "GPSM2",
                "hgnc_symbol": "GPSM2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:109417972-109477167",
                            "ensembl_id": "ENSG00000121957"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:108875350-108934545",
                            "ensembl_id": "ENSG00000121957"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-02-03"
            },
            "entity_type": "gene",
            "entity_name": "GPSM2",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "PMID:11832491",
                "15623799",
                "16357871",
                "20602914",
                "21331036",
                "21348867",
                "22578326",
                "8973305"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "phenotypes": [
                "Nonsyndromic Hearing Loss, Recessive",
                "Chudley-McCullough syndrome, 604213",
                "also causes arachnoid cysts and MRI changes -  clinical phenotpye maybe mild neurological symptoms"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 126,
                "hash_id": "558ac48fbb5a16630dcfeaad",
                "name": "Hearing loss",
                "disease_group": "Hearing and ear disorders",
                "disease_sub_group": "Non-syndromic hearing loss",
                "status": "public",
                "version": "2.96",
                "version_created": "2020-10-20T08:03:34.316159Z",
                "relevant_disorders": [
                    "Congenital hearing impairment",
                    "Autosomal dominant deafness",
                    "Congenital hearing impairment (profound/severe)",
                    "R67"
                ],
                "stats": {
                    "number_of_genes": 387,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    },
                    {
                        "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": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9455",
                "gene_name": "PROP paired-like homeobox 1",
                "omim_gene": [
                    "601538"
                ],
                "alias_name": null,
                "gene_symbol": "PROP1",
                "hgnc_symbol": "PROP1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:177419236-177423243",
                            "ensembl_id": "ENSG00000175325"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:177992235-177996242",
                            "ensembl_id": "ENSG00000175325"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-02-02"
            },
            "entity_type": "gene",
            "entity_name": "PROP1",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 126,
                "hash_id": "558ac48fbb5a16630dcfeaad",
                "name": "Hearing loss",
                "disease_group": "Hearing and ear disorders",
                "disease_sub_group": "Non-syndromic hearing loss",
                "status": "public",
                "version": "2.96",
                "version_created": "2020-10-20T08:03:34.316159Z",
                "relevant_disorders": [
                    "Congenital hearing impairment",
                    "Autosomal dominant deafness",
                    "Congenital hearing impairment (profound/severe)",
                    "R67"
                ],
                "stats": {
                    "number_of_genes": 387,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    },
                    {
                        "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": [
                    "p51",
                    "SHFM4",
                    "EEC3",
                    "p63",
                    "p73L",
                    "OFC8",
                    "KET",
                    "p73H",
                    "NBP",
                    "p53CP"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:15979",
                "gene_name": "tumor protein p63",
                "omim_gene": [
                    "603273"
                ],
                "alias_name": null,
                "gene_symbol": "TP63",
                "hgnc_symbol": "TP63",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:189349205-189615068",
                            "ensembl_id": "ENSG00000073282"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "3:189631416-189897279",
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                    }
                },
                "hgnc_date_symbol_changed": "2002-04-18"
            },
            "entity_type": "gene",
            "entity_name": "TP63",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Victorian Clinical Genetics Services",
                "Expert Review Green",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3, 604292",
                "Orofacial cleft 8, EEC SYNDROME 3, Rapp Hodgkins syndrome, 129400",
                "EEC syndrome (Ectrodactyly, Ectodermal dysplasia and Clefting)",
                "AEC (Ankyloblepharon filiforme adnatum, Ectodermal defects and Clefting), Hay Wells syndrome 106260",
                "Limb-mammary syndrome, 603543",
                "ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3",
                "EEC3",
                "Cleft lip"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
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                "disease_group": "Dysmorphic and congenital abnormality syndromes",
                "disease_sub_group": "Dysmorphic disorders",
                "status": "public",
                "version": "2.5",
                "version_created": "2020-10-09T15:34:12.274674Z",
                "relevant_disorders": [
                    "Familial non-syndromic cleft lip and or familial cleft palate",
                    "Familial non-syndromic clefting",
                    "Syndromic cleft lip and or cleft palate",
                    "Syndromic clefting"
                ],
                "stats": {
                    "number_of_genes": 260,
                    "number_of_strs": 0,
                    "number_of_regions": 5
                },
                "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."
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                    {
                        "name": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "dJ852M4.2"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:16133",
                "gene_name": "TBC1 domain family member 20",
                "omim_gene": [
                    "611663"
                ],
                "alias_name": null,
                "gene_symbol": "TBC1D20",
                "hgnc_symbol": "TBC1D20",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "20:416124-443197",
                            "ensembl_id": "ENSG00000125875"
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                    },
                    "GRch38": {
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                            "location": "20:435480-462553",
                            "ensembl_id": "ENSG00000125875"
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                },
                "hgnc_date_symbol_changed": "2005-01-05"
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            "entity_type": "gene",
            "entity_name": "TBC1D20",
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            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "24239381"
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            "evidence": [
                "Wessex and West Midlands GLH",
                "NHS GMS",
                "Expert Review Amber",
                "Victorian Clinical Genetics Services"
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            "phenotypes": [
                "Warburg micro syndrome 4, 615663",
                "seizures"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "watchlist"
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                "hash_id": null,
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                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Inherited Epilepsy Syndromes",
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                "version_created": "2020-10-20T16:20:11.944014Z",
                "relevant_disorders": [
                    "Epilepsy Plus",
                    "Epilepsy plus other features",
                    "Genetic Epilepsy Syndromes",
                    "Epileptic encephalopathy",
                    "Familial Focal Epilepsies",
                    "Familial Genetic Generalised Epilepsies",
                    "Genetic Epilepsies with Febrile Seizures Plus (GEFS+)",
                    "Genetic Epilepsies with Febrile Seizures Plus",
                    "Early onset or syndromic epilepsy",
                    "R59"
                ],
                "stats": {
                    "number_of_genes": 697,
                    "number_of_strs": 2,
                    "number_of_regions": 15
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                "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."
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                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "GAT1",
                    "GABATR",
                    "GABATHG"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11042",
                "gene_name": "solute carrier family 6 member 1",
                "omim_gene": [
                    "137165"
                ],
                "alias_name": [
                    "GABA transporter 1"
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                "gene_symbol": "SLC6A1",
                "hgnc_symbol": "SLC6A1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:11034410-11080933",
                            "ensembl_id": "ENSG00000157103"
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                    },
                    "GRch38": {
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                            "location": "3:10992724-11039247",
                            "ensembl_id": "ENSG00000157103"
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                },
                "hgnc_date_symbol_changed": "1994-02-16"
            },
            "entity_type": "gene",
            "entity_name": "SLC6A1",
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            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "25865495",
                "Carvill et al (2015) Am J Hum Genet 96(5): 808-15"
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            "evidence": [
                "Wessex and West Midlands GLH",
                "NHS GMS",
                "Victorian Clinical Genetics Services",
                "Expert Review",
                "Expert Review Green"
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            "phenotypes": [
                "Myoclonic-atonic epilepsy, 616421"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
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            "panel": {
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                "hash_id": null,
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                "disease_sub_group": "Inherited Epilepsy Syndromes",
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                "version_created": "2020-10-20T16:20:11.944014Z",
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                    "Epilepsy Plus",
                    "Epilepsy plus other features",
                    "Genetic Epilepsy Syndromes",
                    "Epileptic encephalopathy",
                    "Familial Focal Epilepsies",
                    "Familial Genetic Generalised Epilepsies",
                    "Genetic Epilepsies with Febrile Seizures Plus (GEFS+)",
                    "Genetic Epilepsies with Febrile Seizures Plus",
                    "Early onset or syndromic epilepsy",
                    "R59"
                ],
                "stats": {
                    "number_of_genes": 697,
                    "number_of_strs": 2,
                    "number_of_regions": 15
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                "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."
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                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FBX25"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13596",
                "gene_name": "F-box protein 25",
                "omim_gene": [
                    "609098"
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                "alias_name": null,
                "gene_symbol": "FBXO25",
                "hgnc_symbol": "FBXO25",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "8:356428-421225",
                            "ensembl_id": "ENSG00000147364"
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                    "GRch38": {
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                            "location": "8:406428-477967",
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                "hgnc_date_symbol_changed": "2000-09-27"
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            "entity_type": "gene",
            "entity_name": "FBXO25",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "16278047"
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            "evidence": [
                "Expert Review Red",
                "Expert Review Red"
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                "Expression in brain"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
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            "panel": {
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                "version_created": "2020-10-22T17:15:29.000371Z",
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                    "Moderate",
                    "severe or profound intellectual disability",
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                    "R29"
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                    "number_of_regions": 57
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                        "description": "Rare Disease 100K"
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    },
                    {
                        "name": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
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                    {
                        "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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            "transcript": null
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        {
            "gene_data": {
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                    "p619"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4867",
                "gene_name": "HECT and RLD domain containing E3 ubiquitin protein ligase family member 1",
                "omim_gene": [
                    "605109"
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                "alias_name": null,
                "gene_symbol": "HERC1",
                "hgnc_symbol": "HERC1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "15:63900817-64126141",
                            "ensembl_id": "ENSG00000103657"
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                    "GRch38": {
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                            "ensembl_id": "ENSG00000103657"
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                },
                "hgnc_date_symbol_changed": "1999-01-07"
            },
            "entity_type": "gene",
            "entity_name": "HERC1",
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            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "26138117",
                "26153217",
                "27108999"
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            "evidence": [
                "Expert Review Green",
                "Other"
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                "Macrocephaly, dysmorphic facies, and psychomotor retardation 617011"
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            "panel": {
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                "name": "Intellectual disability",
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                "version": "3.484",
                "version_created": "2020-10-22T17:15:29.000371Z",
                "relevant_disorders": [
                    "Coarse facial features including Coffin-Siris-like disorders",
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                    "Moderate",
                    "severe or profound intellectual disability",
                    "Schizophrenia plus additional features",
                    "Intellectual disability - microarray",
                    "fragile X and sequencing",
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                    "number_of_regions": 57
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                "types": [
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                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
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                    {
                        "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."
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                    {
                        "name": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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                ]
            },
            "transcript": null
        },
        {
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                "hgnc_id": "HGNC:7882",
                "gene_name": "notch 2",
                "omim_gene": [
                    "600275"
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                "alias_name": null,
                "gene_symbol": "NOTCH2",
                "hgnc_symbol": "NOTCH2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "1:120454176-120612240",
                            "ensembl_id": "ENSG00000134250"
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                    },
                    "GRch38": {
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                            "location": "1:119911553-120069626",
                            "ensembl_id": "ENSG00000134250"
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                    }
                },
                "hgnc_date_symbol_changed": "1994-11-10"
            },
            "entity_type": "gene",
            "entity_name": "NOTCH2",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "Other - please provide details in the comments",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BRIDGE study SPEED NEURO Tier1 Gene"
            ],
            "phenotypes": [
                "Alagille syndrome 2, 610205",
                "Hajdu-Cheney syndrome, 102500"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
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                "disease_group": "Neurology and neurodevelopmental disorders",
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                "version": "3.484",
                "version_created": "2020-10-22T17:15:29.000371Z",
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                    "Moderate",
                    "severe or profound intellectual disability",
                    "Schizophrenia plus additional features",
                    "Intellectual disability - microarray",
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                    "R29"
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                    "number_of_genes": 2416,
                    "number_of_strs": 11,
                    "number_of_regions": 57
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
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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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                    {
                        "name": "GMS signed-off",
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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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                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
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                    "RABGDIA",
                    "XAP-4",
                    "OPHN2",
                    "FLJ41411"
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                "gene_name": "GDP dissociation inhibitor 1",
                "omim_gene": [
                    "300104"
                ],
                "alias_name": [
                    "mental retardation, X-linked 41",
                    "mental retardation, X-linked 48",
                    "rab GDP-dissociation inhibitor, alpha"
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                "gene_symbol": "GDI1",
                "hgnc_symbol": "GDI1",
                "hgnc_release": "2017-11-03T00:00:00",
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                            "location": "X:153665266-153671814",
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                    },
                    "GRch38": {
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                    }
                },
                "hgnc_date_symbol_changed": "1997-11-11"
            },
            "entity_type": "gene",
            "entity_name": "GDI1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Victorian Clinical Genetics Services",
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory"
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            "phenotypes": [
                "Mental retardation, X-linked 41, 300849",
                "MENTAL RETARDATION X-LINKED TYPE 41 (MRX41)"
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            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
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            "panel": {
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                    "Moderate",
                    "severe or profound intellectual disability",
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                    "R29"
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                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
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                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
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                    {
                        "name": "Component Of 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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        },
        {
            "gene_data": {
                "alias": [
                    "CRTR",
                    "CT1"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11055",
                "gene_name": "solute carrier family 6 member 8",
                "omim_gene": [
                    "300036"
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                "alias_name": [
                    "creatine transporter"
                ],
                "gene_symbol": "SLC6A8",
                "hgnc_symbol": "SLC6A8",
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                "ensembl_genes": {
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                            "location": "X:152953554-152962048",
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                    },
                    "GRch38": {
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                    }
                },
                "hgnc_date_symbol_changed": "1994-12-19"
            },
            "entity_type": "gene",
            "entity_name": "SLC6A8",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Victorian Clinical Genetics Services",
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen"
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            "phenotypes": [
                "Cerebral creatine deficiency syndrome 1, 300352",
                "X-LINKED CREATINE DEFICIENCY SYNDROME (XL-CDS)"
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            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
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                    "Moderate",
                    "severe or profound intellectual disability",
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                    "Intellectual disability - microarray",
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                "types": [
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                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
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                    {
                        "name": "Component Of Super Panel",
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                    },
                    {
                        "name": "GMS signed-off",
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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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                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "K-glypican"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4452",
                "gene_name": "glypican 4",
                "omim_gene": [
                    "300168"
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                "alias_name": [
                    "glypican proteoglycan 4"
                ],
                "gene_symbol": "GPC4",
                "hgnc_symbol": "GPC4",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "X:132434131-132549518",
                            "ensembl_id": "ENSG00000076716"
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                    },
                    "GRch38": {
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                            "location": "X:133300103-133415490",
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                "hgnc_date_symbol_changed": "1996-08-08"
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            "entity_type": "gene",
            "entity_name": "GPC4",
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            "mode_of_pathogenicity": null,
            "publications": [
                "30982611"
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            "evidence": [
                "Expert Review Amber",
                "Expert list"
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                "Keipert syndrome OMIM# 301026"
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                "Skewed X-inactivation"
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                "types": [
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                        "name": "Rare Disease 100K",
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                    {
                        "name": "GMS Rare Disease Virtual",
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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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            "transcript": null
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        {
            "gene_data": {
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                "hgnc_date_symbol_changed": "2006-09-21"
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            "entity_name": "SLC25A38",
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            "penetrance": "Complete",
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            "publications": [
                "PMID: 19412178",
                "PMID: 25985931 (mutations detected in 3 patients in this gene)",
                "PMID: 21393332 (11 patients)",
                "PMID: 19731322 (12 probands with mutations in this gene)",
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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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            "transcript": null
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        {
            "gene_data": {
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                    "IPLA2G",
                    "IPLA2-2",
                    "iPLA2gamma"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:28900",
                "gene_name": "patatin like phospholipase domain containing 8",
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                "hgnc_date_symbol_changed": "2006-06-12"
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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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            "transcript": null
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        {
            "gene_data": {
                "alias": [
                    "TGN",
                    "AITD3"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11764",
                "gene_name": "thyroglobulin",
                "omim_gene": [
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                "hgnc_symbol": "TG",
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                "ensembl_genes": {
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                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "TG",
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                "23164529",
                "27525530 (Nicholas et al.,2016) identify a monogenic and polygenic basis of disease."
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                "Expert Review Green",
                "Eligibility statement prior genetic testing",
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                "TDH3",
                "low thyroglobulin, goitre"
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                },
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                        "name": "Rare Disease 100K",
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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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        },
        {
            "gene_data": {
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                    "DKFZp434A2417",
                    "KIAA1996"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:23338",
                "gene_name": "acyl-CoA binding domain containing 5",
                "omim_gene": [
                    "616618"
                ],
                "alias_name": null,
                "gene_symbol": "ACBD5",
                "hgnc_symbol": "ACBD5",
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                "ensembl_genes": {
                    "GRch37": {
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                    }
                },
                "hgnc_date_symbol_changed": "2003-11-11"
            },
            "entity_type": "gene",
            "entity_name": "ACBD5",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
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                "23(2):236-47 PMID: 23105016"
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                "NHS GMS",
                "Expert Review Red"
            ],
            "phenotypes": [
                "No OMIM disease ID",
                "novel variant reported in PMID: 23105016 in family with cone-rod dystrophyand psychomotor delay associated with significant white matter involvement"
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            "mode_of_inheritance": "",
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            "panel": {
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                    "R33",
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                    "R35"
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                    "number_of_regions": 0
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                        "description": "Rare Disease 100K"
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                    {
                        "name": "GMS Rare Disease Virtual",
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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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            "transcript": null
        },
        {
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                    "CTPCT"
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                "gene_symbol": "PCYT1A",
                "hgnc_symbol": "PCYT1A",
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                            "location": "3:195941093-196014828",
                            "ensembl_id": "ENSG00000161217"
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                    "GRch38": {
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                },
                "hgnc_date_symbol_changed": "1999-05-05"
            },
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            "entity_name": "PCYT1A",
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            "penetrance": "Complete",
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            "publications": [
                "Several publications on HGMD in patients with Spondylometaphyseal dysplasia with cone-rod dystrophy"
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                "Expert Review Green"
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            "phenotypes": [
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                    "Rod Dysfunction Syndrome",
                    "Rod-cone dystrophy",
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                    "Familial exudative retinopathy",
                    "R32",
                    "R33",
                    "R34",
                    "R35"
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                    "number_of_regions": 0
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                "types": [
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                        "name": "Rare Disease 100K",
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                    {
                        "name": "GMS Rare Disease Virtual",
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                "omim_gene": [
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                "alias_name": null,
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                "hgnc_symbol": "LCA5",
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                "ensembl_genes": {
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                            "location": "6:80194708-80247175",
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                    "GRch38": {
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                "hgnc_date_symbol_changed": "2005-02-23"
            },
            "entity_type": "gene",
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                "Expert Review Green"
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                "Leber congenital amaurosis 5, 604537",
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                "Leber congenital amaurosis 5"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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                    "Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy",
                    "Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy",
                    "Rod Dysfunction Syndrome",
                    "Rod-cone dystrophy",
                    "Familial exudative vitreoretinopathy",
                    "Familial exudative retinopathy",
                    "R32",
                    "R33",
                    "R34",
                    "R35"
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                "stats": {
                    "number_of_genes": 389,
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                    "number_of_regions": 0
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                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
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                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
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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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            "transcript": null
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        {
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                "hgnc_id": "HGNC:26113",
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                    "609863"
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                "alias_name": null,
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                            "location": "12:111051832-111087235",
                            "ensembl_id": "ENSG00000204852"
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                            "location": "12:110614027-110649430",
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                "hgnc_date_symbol_changed": "2007-08-20"
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            "entity_type": "gene",
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            "mode_of_pathogenicity": "",
            "publications": [
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                "Expert Review Red"
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                "Joubert syndrome 13, 614173"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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                "version_created": "2020-10-06T16:02:07.100647Z",
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                    "number_of_genes": 461,
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                    "number_of_regions": 2
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                "types": [
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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": "GMS signed-off",
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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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                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
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                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
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                    "CSB",
                    "RAD26",
                    "ARMD5"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3438",
                "gene_name": "ERCC excision repair 6, chromatin remodeling factor",
                "omim_gene": [
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                "hgnc_date_symbol_changed": "1989-06-30"
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                        "name": "GMS Rare Disease",
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                    "thiamine pyrophosphokinase 1",
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                            "ensembl_id": "ENSG00000115275"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2009-03-24"
            },
            "entity_type": "gene",
            "entity_name": "MOGS",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "30847515"
            ],
            "evidence": [
                "Next Generation Children Project",
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Congenital disorder of glycosylation, type IIb, 606056"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 921,
                "hash_id": null,
                "name": "Severe Paediatric Disorders",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.11",
                "version_created": "2020-09-08T09:10:24.474793Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 2691,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Research",
                        "slug": "research",
                        "description": "This is a gene panel used for research."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "HP10481"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13530",
                "gene_name": "transmembrane protein 5",
                "omim_gene": [
                    "605862"
                ],
                "alias_name": null,
                "gene_symbol": "TMEM5",
                "hgnc_symbol": "TMEM5",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:64173583-64203338",
                            "ensembl_id": "ENSG00000118600"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:63779803-63809558",
                            "ensembl_id": "ENSG00000118600"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-09-20"
            },
            "entity_type": "gene",
            "entity_name": "TMEM5",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "30847515"
            ],
            "evidence": [
                "Next Generation Children Project",
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, 615041"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "new-gene-name"
            ],
            "panel": {
                "id": 921,
                "hash_id": null,
                "name": "Severe Paediatric Disorders",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.11",
                "version_created": "2020-09-08T09:10:24.474793Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 2691,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Research",
                        "slug": "research",
                        "description": "This is a gene panel used for research."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "DP2",
                    "DP3",
                    "DP2.5",
                    "PPP1R46"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:583",
                "gene_name": "APC, WNT signaling pathway regulator",
                "omim_gene": [
                    "611731"
                ],
                "alias_name": [
                    "protein phosphatase 1, regulatory subunit 46"
                ],
                "gene_symbol": "APC",
                "hgnc_symbol": "APC",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:112043195-112181936",
                            "ensembl_id": "ENSG00000134982"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:112707498-112846239",
                            "ensembl_id": "ENSG00000134982"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "APC",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert list",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Familial Adenomatous Polyposis",
                "Adult and child",
                "Bowel cancer predisposition"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 932,
                "hash_id": null,
                "name": "Additional findings health related - CNV analysis children",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "0.12",
                "version_created": "2020-04-27T12:40:25.994824Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 4,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    },
                    {
                        "name": "Additional Findings",
                        "slug": "additional-findings",
                        "description": "This is a gene panel that maybe used for additional findings."
                    }
                ]
            },
            "transcript": [
                "ENST00000257430.9",
                "NM_000038.5"
            ]
        },
        {
            "gene_data": {
                "alias": [
                    "CD110",
                    "TPOR"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7217",
                "gene_name": "MPL proto-oncogene, thrombopoietin receptor",
                "omim_gene": [
                    "159530"
                ],
                "alias_name": null,
                "gene_symbol": "MPL",
                "hgnc_symbol": "MPL",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:43803478-43818443",
                            "ensembl_id": "ENSG00000117400"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:43337849-43352772",
                            "ensembl_id": "ENSG00000117400"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1990-09-10"
            },
            "entity_type": "gene",
            "entity_name": "MPL",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Thrombocythemia 2, 601977"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 945,
                "hash_id": null,
                "name": "Thrombocythaemia",
                "disease_group": "Haematological disorders",
                "disease_sub_group": "Haemostasis disorders",
                "status": "public",
                "version": "1.2",
                "version_created": "2020-09-30T10:16:19.920144Z",
                "relevant_disorders": [
                    "R406"
                ],
                "stats": {
                    "number_of_genes": 5,
                    "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
        }
    ]
}