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{
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    "name": "Hydrocephalus",
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            "gene_data": {
                "alias": [
                    "KIAA0018",
                    "seladin-1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2859",
                "gene_name": "24-dehydrocholesterol reductase",
                "omim_gene": [
                    "606418"
                ],
                "alias_name": null,
                "gene_symbol": "DHCR24",
                "hgnc_symbol": "DHCR24",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:55315306-55352891",
                            "ensembl_id": "ENSG00000116133"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:54849633-54887218",
                            "ensembl_id": "ENSG00000116133"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-04-27"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Desmosterolosis"
            ],
            "entity_name": "DHCR24",
            "entity_type": "gene",
            "publications": [
                "11519011",
                "21559050"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "EMAP",
                    "HuEMAP",
                    "ELP79"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3330",
                "gene_name": "echinoderm microtubule associated protein like 1",
                "omim_gene": [
                    "602033"
                ],
                "alias_name": null,
                "gene_symbol": "EML1",
                "hgnc_symbol": "EML1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:100204030-100408397",
                            "ensembl_id": "ENSG00000066629"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "14:99737693-99942060",
                            "ensembl_id": "ENSG00000066629"
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                    }
                },
                "hgnc_date_symbol_changed": "2002-02-15"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Band heterotopia, 600348"
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            "entity_name": "EML1",
            "entity_type": "gene",
            "publications": [
                "24859200",
                "28556411"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "PE-2",
                    "PE2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3444",
                "gene_name": "ETS2 repressor factor",
                "omim_gene": [
                    "611888"
                ],
                "alias_name": null,
                "gene_symbol": "ERF",
                "hgnc_symbol": "ERF",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:42751724-42759309",
                            "ensembl_id": "ENSG00000105722"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "19:42247572-42255157",
                            "ensembl_id": "ENSG00000105722"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-07-17"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Craniosynostosis 4  600775"
            ],
            "entity_name": "ERF",
            "entity_type": "gene",
            "publications": [
                "23354439"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "IMAGE:4942737",
                    "DKFZp547D065",
                    "DMP4",
                    "G-CK"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:22140",
                "gene_name": "FAM20C, golgi associated secretory pathway kinase",
                "omim_gene": [
                    "611061"
                ],
                "alias_name": [
                    "dentin matrix protein 4",
                    "golgi casein kinase"
                ],
                "gene_symbol": "FAM20C",
                "hgnc_symbol": "FAM20C",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:192969-300711",
                            "ensembl_id": "ENSG00000177706"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "7:192969-260745",
                            "ensembl_id": "ENSG00000177706"
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                    }
                },
                "hgnc_date_symbol_changed": "2003-09-03"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Raine syndrome"
            ],
            "entity_name": "FAM20C",
            "entity_type": "gene",
            "publications": [
                "19250384",
                "17924334"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
                "alias": [
                    "FAB",
                    "FLJ34064",
                    "FAAP95"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3583",
                "gene_name": "Fanconi anemia complementation group B",
                "omim_gene": [
                    "300515"
                ],
                "alias_name": null,
                "gene_symbol": "FANCB",
                "hgnc_symbol": "FANCB",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:14861529-14891191",
                            "ensembl_id": "ENSG00000181544"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:14843407-14873069",
                            "ensembl_id": "ENSG00000181544"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-08-26"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "VACTERL Association with Hydrocephalus",
                "Vacterl Association, X-Linked, With Or Without Hydrocephalus",
                "VACTERLX",
                "Fanconi anemia, complementation group B 300514"
            ],
            "entity_name": "FANCB",
            "entity_type": "gene",
            "publications": [
                "21910217",
                "15502827"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "H2",
                    "H3",
                    "H4",
                    "H5",
                    "CEK",
                    "FLG",
                    "BFGFR",
                    "N-SAM",
                    "CD331"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3688",
                "gene_name": "fibroblast growth factor receptor 1",
                "omim_gene": [
                    "136350"
                ],
                "alias_name": [
                    "Pfeiffer syndrome"
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                "gene_symbol": "FGFR1",
                "hgnc_symbol": "FGFR1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:38268656-38326352",
                            "ensembl_id": "ENSG00000077782"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "8:38411138-38468834",
                            "ensembl_id": "ENSG00000077782"
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                    }
                },
                "hgnc_date_symbol_changed": "1992-02-25"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Pfeiffer syndrome  101600"
            ],
            "entity_name": "FGFR1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": "Other - please provide details in the comments"
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "CEK3",
                    "TK14",
                    "TK25",
                    "ECT1",
                    "K-SAM",
                    "CD332"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3689",
                "gene_name": "fibroblast growth factor receptor 2",
                "omim_gene": [
                    "176943"
                ],
                "alias_name": [
                    "Crouzon syndrome",
                    "Pfeiffer syndrome"
                ],
                "gene_symbol": "FGFR2",
                "hgnc_symbol": "FGFR2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:123237848-123357972",
                            "ensembl_id": "ENSG00000066468"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:121478334-121598458",
                            "ensembl_id": "ENSG00000066468"
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                    }
                },
                "hgnc_date_symbol_changed": "1991-05-09"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Apert syndrome",
                "Crouzon syndrome"
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            "entity_name": "FGFR2",
            "entity_type": "gene",
            "publications": [
                "16691624",
                "7719344"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "CEK2",
                    "JTK4",
                    "CD333"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3690",
                "gene_name": "fibroblast growth factor receptor 3",
                "omim_gene": [
                    "134934"
                ],
                "alias_name": null,
                "gene_symbol": "FGFR3",
                "hgnc_symbol": "FGFR3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:1795034-1810599",
                            "ensembl_id": "ENSG00000068078"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "4:1793307-1808872",
                            "ensembl_id": "ENSG00000068078"
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                    }
                },
                "hgnc_date_symbol_changed": "1991-06-07"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Achondroplasia 100800",
                "Thanatophoric dysplasia 187600",
                "Crouzon syndrome with acanthosis nigricans 612247",
                "Muenke syndrome 602849"
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            "entity_name": "FGFR3",
            "entity_type": "gene",
            "publications": [
                "8078586"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "LGMD2I",
                    "MDC1C"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17997",
                "gene_name": "fukutin related protein",
                "omim_gene": [
                    "606596"
                ],
                "alias_name": null,
                "gene_symbol": "FKRP",
                "hgnc_symbol": "FKRP",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:47249303-47280245",
                            "ensembl_id": "ENSG00000181027"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "19:46746046-46776988",
                            "ensembl_id": "ENSG00000181027"
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                    }
                },
                "hgnc_date_symbol_changed": "2003-12-04"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5"
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            "entity_name": "FKRP",
            "entity_type": "gene",
            "publications": [
                "15121789",
                "20236121"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "gene_data": {
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                    "LGMD2M"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3622",
                "gene_name": "fukutin",
                "omim_gene": [
                    "607440"
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                "alias_name": null,
                "gene_symbol": "FKTN",
                "hgnc_symbol": "FKTN",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:108320411-108403399",
                            "ensembl_id": "ENSG00000106692"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "9:105558130-105641118",
                            "ensembl_id": "ENSG00000106692"
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                    }
                },
                "hgnc_date_symbol_changed": "2007-11-21"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4"
            ],
            "entity_name": "FKTN",
            "entity_type": "gene",
            "publications": [
                "9690476",
                "10545611",
                "12601708",
                "18177472"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "FLJ20371",
                    "MFSD7C"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:20105",
                "gene_name": "feline leukemia virus subgroup C cellular receptor family member 2",
                "omim_gene": [
                    "610865"
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                "alias_name": null,
                "gene_symbol": "FLVCR2",
                "hgnc_symbol": "FLVCR2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:76044960-76129557",
                            "ensembl_id": "ENSG00000119686"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "14:75578617-75663214",
                            "ensembl_id": "ENSG00000119686"
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                    }
                },
                "hgnc_date_symbol_changed": "2007-05-01"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome  225790"
            ],
            "entity_name": "FLVCR2",
            "entity_type": "gene",
            "publications": [
                "20206334"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "FLJ45472"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4235",
                "gene_name": "glial fibrillary acidic protein",
                "omim_gene": [
                    "137780"
                ],
                "alias_name": [
                    "intermediate filament protein"
                ],
                "gene_symbol": "GFAP",
                "hgnc_symbol": "GFAP",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:42982376-42994305",
                            "ensembl_id": "ENSG00000131095"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "17:44903161-44916937",
                            "ensembl_id": "ENSG00000131095"
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                    }
                },
                "hgnc_date_symbol_changed": "1989-12-07"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Alexander disease 203450"
            ],
            "entity_name": "GFAP",
            "entity_type": "gene",
            "publications": [
                "12034785"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "PAP-A",
                    "PAPA",
                    "PAPA1",
                    "PAPB",
                    "ACLS",
                    "PPDIV"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4319",
                "gene_name": "GLI family zinc finger 3",
                "omim_gene": [
                    "165240"
                ],
                "alias_name": [
                    "zinc finger protein GLI3",
                    "oncogene GLI3",
                    "DNA-binding protein"
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                "gene_symbol": "GLI3",
                "hgnc_symbol": "GLI3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:42000548-42277469",
                            "ensembl_id": "ENSG00000106571"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "7:41960950-42237870",
                            "ensembl_id": "ENSG00000106571"
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                    }
                },
                "hgnc_date_symbol_changed": "1989-05-29"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Greig cephalopolysyndactyly syndrome"
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            "entity_name": "GLI3",
            "entity_type": "gene",
            "publications": [
                "24736735"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "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"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "1:108875350-108934545",
                            "ensembl_id": "ENSG00000121957"
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                    }
                },
                "hgnc_date_symbol_changed": "2004-02-03"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Chudley-McCullough syndrome"
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            "entity_name": "GPSM2",
            "entity_type": "gene",
            "publications": [
                "22578326"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4696",
                "gene_name": "glucuronidase beta",
                "omim_gene": [
                    "611499"
                ],
                "alias_name": null,
                "gene_symbol": "GUSB",
                "hgnc_symbol": "GUSB",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:65425671-65447301",
                            "ensembl_id": "ENSG00000169919"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "7:65960684-65982314",
                            "ensembl_id": "ENSG00000169919"
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                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Mucopolysaccharidosis VII 253220"
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            "entity_name": "GUSB",
            "entity_type": "gene",
            "publications": [
                "12403825",
                "12522561"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "FLJ32915"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26558",
                "gene_name": "HYLS1, centriolar and ciliogenesis associated",
                "omim_gene": [
                    "610693"
                ],
                "alias_name": null,
                "gene_symbol": "HYLS1",
                "hgnc_symbol": "HYLS1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "11:125753509-125770543",
                            "ensembl_id": "ENSG00000198331"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "11:125883614-125900648",
                            "ensembl_id": "ENSG00000198331"
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                    }
                },
                "hgnc_date_symbol_changed": "2005-05-04"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Hydrolethalus syndrome  236680"
            ],
            "entity_name": "HYLS1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": "Other - please provide details in the comments"
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:5389",
                "gene_name": "iduronate 2-sulfatase",
                "omim_gene": [
                    "300823"
                ],
                "alias_name": [
                    "Hunter syndrome"
                ],
                "gene_symbol": "IDS",
                "hgnc_symbol": "IDS",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "X:148558521-148615470",
                            "ensembl_id": "ENSG00000010404"
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                    },
                    "GRch38": {
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                            "location": "X:149476990-149521096",
                            "ensembl_id": "ENSG00000010404"
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                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Mucopolysaccharidosis II 309900"
            ],
            "entity_name": "IDS",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "new-gene-name"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "hCG_1745121",
                    "IspD",
                    "Nip"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:37276",
                "gene_name": "isoprenoid synthase domain containing",
                "omim_gene": [
                    "614631"
                ],
                "alias_name": [
                    "notch1-induced protein",
                    "4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis)"
                ],
                "gene_symbol": "ISPD",
                "hgnc_symbol": "ISPD",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:16130817-16460947",
                            "ensembl_id": "ENSG00000214960"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:16087527-16421322",
                            "ensembl_id": "ENSG00000214960"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2009-10-02"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7"
            ],
            "entity_name": "ISPD",
            "entity_type": "gene",
            "publications": [
                "22522420"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "Talpid3",
                    "JBTS23"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:19960",
                "gene_name": "KIAA0586",
                "omim_gene": [
                    "610178"
                ],
                "alias_name": null,
                "gene_symbol": "KIAA0586",
                "hgnc_symbol": "KIAA0586",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:58894103-59015216",
                            "ensembl_id": "ENSG00000100578"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "14:58427385-58551289",
                            "ensembl_id": "ENSG00000100578"
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                    }
                },
                "hgnc_date_symbol_changed": "2003-11-21"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Short-rib thoracic dysplasia 14 with polydactyly  616546"
            ],
            "entity_name": "KIAA0586",
            "entity_type": "gene",
            "publications": [
                "26166481"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "FLJ21404",
                    "FSA",
                    "KIAA1371",
                    "Tweek"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26953",
                "gene_name": "KIAA1109",
                "omim_gene": [
                    "611565"
                ],
                "alias_name": [
                    "fragile site-associated"
                ],
                "gene_symbol": "KIAA1109",
                "hgnc_symbol": "KIAA1109",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:123073488-123283913",
                            "ensembl_id": "ENSG00000138688"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:122152333-122362758",
                            "ensembl_id": "ENSG00000138688"
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                    }
                },
                "hgnc_date_symbol_changed": "2004-07-29"
            },
            "penetrance": null,
            "phenotypes": [
                "Alkuraya-Kucinskas syndrome\t617822"
            ],
            "entity_name": "KIAA1109",
            "entity_type": "gene",
            "publications": [
                "25558065",
                "29290337"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": null
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "UKGTN",
                "Emory Genetics Laboratory",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "CD171"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6470",
                "gene_name": "L1 cell adhesion molecule",
                "omim_gene": [
                    "308840"
                ],
                "alias_name": [
                    "neural cell adhesion molecule L1"
                ],
                "gene_symbol": "L1CAM",
                "hgnc_symbol": "L1CAM",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:153126969-153174677",
                            "ensembl_id": "ENSG00000198910"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:153861514-153909223",
                            "ensembl_id": "ENSG00000198910"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1989-06-30"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Corpus callosum, partial agenesis of",
                "CRASH syndrome",
                "Hydrocephalus due to aqueductal stenosis 307000",
                "Hydrocephalus with congential idiopathic intestinal pseudoobstruction 307000",
                "Hydrocephalus with Hirschsprung disease 307000",
                "MASA syndrome",
                "X-linked Hydrocephalus with aqueductal stenosis",
                "Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius",
                "HSAS"
            ],
            "entity_name": "L1CAM",
            "entity_type": "gene",
            "publications": [
                "8947027",
                "11438988"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6486",
                "gene_name": "laminin subunit beta 1",
                "omim_gene": [
                    "150240"
                ],
                "alias_name": null,
                "gene_symbol": "LAMB1",
                "hgnc_symbol": "LAMB1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:107564244-107643700",
                            "ensembl_id": "ENSG00000091136"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "7:107923799-108003255",
                            "ensembl_id": "ENSG00000091136"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Lissencephaly 5"
            ],
            "entity_name": "LAMB1",
            "entity_type": "gene",
            "publications": [
                "23472759",
                "25925986"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
                "alias": [
                    "KIAA0609"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6511",
                "gene_name": "LARGE xylosyl- and glucuronyltransferase 1",
                "omim_gene": [
                    "603590"
                ],
                "alias_name": [
                    "like-acetylglucosaminyltransferase"
                ],
                "gene_symbol": "LARGE1",
                "hgnc_symbol": "LARGE1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "22:33558212-34318829",
                            "ensembl_id": "ENSG00000133424"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "22:33162226-33922841",
                            "ensembl_id": "ENSG00000133424"
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                    }
                },
                "hgnc_date_symbol_changed": "2016-05-31"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154"
            ],
            "entity_name": "LARGE1",
            "entity_type": "gene",
            "publications": [
                "19067344",
                "19299310",
                "12966029"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "LAMAN"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6826",
                "gene_name": "mannosidase alpha class 2B member 1",
                "omim_gene": [
                    "609458"
                ],
                "alias_name": null,
                "gene_symbol": "MAN2B1",
                "hgnc_symbol": "MAN2B1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:12757325-12777556",
                            "ensembl_id": "ENSG00000104774"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:12646511-12666742",
                            "ensembl_id": "ENSG00000104774"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Mannosidosis, alpha-, types I and II 248500"
            ],
            "entity_name": "MAN2B1",
            "entity_type": "gene",
            "publications": [
                "9915946"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "TMEM226"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:33778",
                "gene_name": "myomaker, myoblast fusion factor",
                "omim_gene": [
                    "615345"
                ],
                "alias_name": [
                    "transmembrane protein 226"
                ],
                "gene_symbol": "MYMK",
                "hgnc_symbol": "MYMK",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:136379708-136393734",
                            "ensembl_id": "ENSG00000187616"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:133514586-133528612",
                            "ensembl_id": "ENSG00000187616"
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                    }
                },
                "hgnc_date_symbol_changed": "2017-05-11"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Carey-Fineman-Ziter syndrome\t254940"
            ],
            "entity_name": "MYMK",
            "entity_type": "gene",
            "publications": [
                "28681861"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7765",
                "gene_name": "neurofibromin 1",
                "omim_gene": [
                    "613113"
                ],
                "alias_name": [
                    "neurofibromatosis",
                    "von Recklinghausen disease",
                    "Watson disease"
                ],
                "gene_symbol": "NF1",
                "hgnc_symbol": "NF1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:29421945-29709134",
                            "ensembl_id": "ENSG00000196712"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:31094927-31382116",
                            "ensembl_id": "ENSG00000196712"
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                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Neurofibromatosis, type 1"
            ],
            "entity_name": "NF1",
            "entity_type": "gene",
            "publications": [
                "10588837"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "ARA267",
                    "FLJ22263",
                    "KMT3B"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14234",
                "gene_name": "nuclear receptor binding SET domain protein 1",
                "omim_gene": [
                    "606681"
                ],
                "alias_name": null,
                "gene_symbol": "NSD1",
                "hgnc_symbol": "NSD1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:176560026-176727216",
                            "ensembl_id": "ENSG00000165671"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:177133025-177300215",
                            "ensembl_id": "ENSG00000165671"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-02-25"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Sotos syndrome 1  117550"
            ],
            "entity_name": "NSD1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "HSPC019",
                    "GL"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21652",
                "gene_name": "osteopetrosis associated transmembrane protein 1",
                "omim_gene": [
                    "607649"
                ],
                "alias_name": [
                    "CLCN7 accessory beta subunit"
                ],
                "gene_symbol": "OSTM1",
                "hgnc_symbol": "OSTM1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:108362613-108487058",
                            "ensembl_id": "ENSG00000081087"
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                    },
                    "GRch38": {
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                            "location": "6:108041409-108165854",
                            "ensembl_id": "ENSG00000081087"
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                },
                "hgnc_date_symbol_changed": "2003-10-06"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Osteopetrosis, autosomal recessive 5  259720"
            ],
            "entity_name": "OSTM1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "somatic"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "PI3K"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8975",
                "gene_name": "phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",
                "omim_gene": [
                    "171834"
                ],
                "alias_name": null,
                "gene_symbol": "PIK3CA",
                "hgnc_symbol": "PIK3CA",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:178865902-178957881",
                            "ensembl_id": "ENSG00000121879"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:179148114-179240093",
                            "ensembl_id": "ENSG00000121879"
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                    }
                },
                "hgnc_date_symbol_changed": "1994-07-15"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 602501"
            ],
            "entity_name": "PIK3CA",
            "entity_type": "gene",
            "publications": [
                "22729224"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "P85B",
                    "p85"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8980",
                "gene_name": "phosphoinositide-3-kinase regulatory subunit 2",
                "omim_gene": [
                    "603157"
                ],
                "alias_name": [
                    "phosphoinositide-3-kinase regulatory subunit beta"
                ],
                "gene_symbol": "PIK3R2",
                "hgnc_symbol": "PIK3R2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:18263928-18281350",
                            "ensembl_id": "ENSG00000105647"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:18153118-18170540",
                            "ensembl_id": "ENSG00000105647"
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                    }
                },
                "hgnc_date_symbol_changed": "1992-12-08"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 603387"
            ],
            "entity_name": "PIK3R2",
            "entity_type": "gene",
            "publications": [
                "22729224",
                "23745724"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": "Other - please provide details in the comments"
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9071",
                "gene_name": "plasminogen",
                "omim_gene": [
                    "173350"
                ],
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                "gene_symbol": "PLG",
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        {
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                "biotype": "protein_coding",
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                "omim_gene": [
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                "Multiple sulfatase deficiency 272200"
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                "12757706"
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                "Expert Review Green",
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                "Expert Review Green",
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                "hgnc_date_symbol_changed": "2016-10-14"
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                "hgnc_date_symbol_changed": "2004-07-16"
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            "penetrance": "Complete",
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            "entity_name": "ZBTB20",
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            "entity_name": "ARX",
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                },
                "hgnc_date_symbol_changed": "2003-08-21"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Endocrine-cerebroosteodysplasia  612651"
            ],
            "entity_name": "ICK",
            "entity_type": "gene",
            "publications": [
                "19185282"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": "Other - please provide details in the comments"
        },
        {
            "tags": [
                "watchlist"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Amber",
                "Literature"
            ],
            "gene_data": {
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                    "JBTS12"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:30497",
                "gene_name": "kinesin family member 7",
                "omim_gene": [
                    "611254"
                ],
                "alias_name": null,
                "gene_symbol": "KIF7",
                "hgnc_symbol": "KIF7",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:90152020-90198682",
                            "ensembl_id": "ENSG00000166813"
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                    },
                    "GRch38": {
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                            "location": "15:89608789-89655451",
                            "ensembl_id": "ENSG00000166813"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-02-07"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "?Hydrolethalus syndrome 2  614120"
            ],
            "entity_name": "KIF7",
            "entity_type": "gene",
            "publications": [
                "21552264"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "watchlist"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Amber",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "MUPP1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7208",
                "gene_name": "multiple PDZ domain crumbs cell polarity complex component",
                "omim_gene": [
                    "603785"
                ],
                "alias_name": null,
                "gene_symbol": "MPDZ",
                "hgnc_symbol": "MPDZ",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:13105703-13279589",
                            "ensembl_id": "ENSG00000107186"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:13105704-13279590",
                            "ensembl_id": "ENSG00000107186"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-12-16"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Hydrocephalus, nonsyndromic, autosomal recessive 2 615219"
            ],
            "entity_name": "MPDZ",
            "entity_type": "gene",
            "publications": [
                "23240096",
                "28460636"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Amber",
                "Literature"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7448",
                "gene_name": "myotubularin 1",
                "omim_gene": [
                    "300415"
                ],
                "alias_name": null,
                "gene_symbol": "MTM1",
                "hgnc_symbol": "MTM1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:149737069-149841795",
                            "ensembl_id": "ENSG00000171100"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "X:150568619-150673322",
                            "ensembl_id": "ENSG00000171100"
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                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Myotubular myopathy, X-linked"
            ],
            "entity_name": "MTM1",
            "entity_type": "gene",
            "publications": [
                "8588581",
                "9931531",
                "10790201"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "watchlist"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Amber",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "PDIA1",
                    "PROHB",
                    "DSI",
                    "GIT",
                    "PDI",
                    "PO4HB",
                    "P4Hbeta"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8548",
                "gene_name": "prolyl 4-hydroxylase subunit beta",
                "omim_gene": [
                    "176790"
                ],
                "alias_name": [
                    "protein disulfide isomerase-associated 1",
                    "protein disulfide isomerase family A, member 1",
                    "collagen prolyl 4-hydroxylase beta"
                ],
                "gene_symbol": "P4HB",
                "hgnc_symbol": "P4HB",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:79801035-79818570",
                            "ensembl_id": "ENSG00000185624"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:81843159-81860694",
                            "ensembl_id": "ENSG00000185624"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Cole-Carpenter syndrome 1"
            ],
            "entity_name": "P4HB",
            "entity_type": "gene",
            "publications": [
                "25683117"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "watchlist"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Amber",
                "Literature"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9586",
                "gene_name": "patched 2",
                "omim_gene": [
                    "603673"
                ],
                "alias_name": null,
                "gene_symbol": "PTCH2",
                "hgnc_symbol": "PTCH2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:45285516-45308735",
                            "ensembl_id": "ENSG00000117425"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:44819844-44843063",
                            "ensembl_id": "ENSG00000117425"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-10-19"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Basal cell nevus syndrome"
            ],
            "entity_name": "PTCH2",
            "entity_type": "gene",
            "publications": [
                "18285427",
                "23479190",
                "3986729"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "watchlist"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Amber",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "KIAA0755"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10706",
                "gene_name": "SEC24 homolog D, COPII coat complex component",
                "omim_gene": [
                    "607186"
                ],
                "alias_name": null,
                "gene_symbol": "SEC24D",
                "hgnc_symbol": "SEC24D",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:119643978-119759838",
                            "ensembl_id": "ENSG00000150961"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:118722823-118838683",
                            "ensembl_id": "ENSG00000150961"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-01-07"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Cole-Carpenter syndrome 2"
            ],
            "entity_name": "SEC24D",
            "entity_type": "gene",
            "publications": [
                "25683121"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "watchlist"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Amber",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "dJ257A7.3",
                    "FLJ32666"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21066",
                "gene_name": "TBC1 domain family member 7",
                "omim_gene": [
                    "612655"
                ],
                "alias_name": [
                    "TS complex subunit 3"
                ],
                "gene_symbol": "TBC1D7",
                "hgnc_symbol": "TBC1D7",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:13266774-13328815",
                            "ensembl_id": "ENSG00000145979"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:13266542-13328583",
                            "ensembl_id": "ENSG00000145979"
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                    }
                },
                "hgnc_date_symbol_changed": "2003-05-14"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Macrocephaly/megalencephaly syndrome, autosomal recessive"
            ],
            "entity_name": "TBC1D7",
            "entity_type": "gene",
            "publications": [
                "23687350",
                "24515783"
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            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Amber",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "MGC131950",
                    "MGC138321",
                    "MGC138323"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12782",
                "gene_name": "Wnt family member 3",
                "omim_gene": [
                    "165330"
                ],
                "alias_name": [
                    "WNT-3 proto-oncogene protein"
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                "gene_symbol": "WNT3",
                "hgnc_symbol": "WNT3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:44839872-44910520",
                            "ensembl_id": "ENSG00000108379"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "17:46762506-46833154",
                            "ensembl_id": "ENSG00000108379"
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                    }
                },
                "hgnc_date_symbol_changed": "1989-05-30"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Tetra-amelia syndrome"
            ],
            "entity_name": "WNT3",
            "entity_type": "gene",
            "publications": [
                "14872406"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "ASXH2",
                    "FLJ10898",
                    "KIAA1685"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:23805",
                "gene_name": "additional sex combs like 2, transcriptional regulator",
                "omim_gene": [
                    "612991"
                ],
                "alias_name": null,
                "gene_symbol": "ASXL2",
                "hgnc_symbol": "ASXL2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:25956622-26101385",
                            "ensembl_id": "ENSG00000143970"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "2:25733753-25878516",
                            "ensembl_id": "ENSG00000143970"
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                    }
                },
                "hgnc_date_symbol_changed": "2003-12-11"
            },
            "penetrance": null,
            "phenotypes": [
                "Shashi-Pena syndrome 617190"
            ],
            "entity_name": "ASXL2",
            "entity_type": "gene",
            "publications": [
                "27693232"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": null
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Red",
                "UKGTN",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "FMRP",
                    "FRAXA",
                    "MGC87458"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3775",
                "gene_name": "fragile X mental retardation 1",
                "omim_gene": [
                    "309550"
                ],
                "alias_name": null,
                "gene_symbol": "FMR1",
                "hgnc_symbol": "FMR1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:146993469-147032645",
                            "ensembl_id": "ENSG00000102081"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "X:147911951-147951125",
                            "ensembl_id": "ENSG00000102081"
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                },
                "hgnc_date_symbol_changed": "1992-01-17"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Fragile X syndrome  300624"
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            "entity_name": "FMR1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
            "mode_of_pathogenicity": "Other - please provide details in the comments"
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "KIAA1851"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:22932",
                "gene_name": "GDP-mannose pyrophosphorylase B",
                "omim_gene": [
                    "615320"
                ],
                "alias_name": [
                    "mannose-1-phosphate guanyltransferase beta"
                ],
                "gene_symbol": "GMPPB",
                "hgnc_symbol": "GMPPB",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:49754277-49761384",
                            "ensembl_id": "ENSG00000173540"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "3:49716844-49723951",
                            "ensembl_id": "ENSG00000173540"
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                    }
                },
                "hgnc_date_symbol_changed": "2005-01-10"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14  615352"
            ],
            "entity_name": "GMPPB",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Red",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "DKFZP564I122",
                    "cblC"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:24525",
                "gene_name": "methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria",
                "omim_gene": [
                    "609831"
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                "alias_name": null,
                "gene_symbol": "MMACHC",
                "hgnc_symbol": "MMACHC",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:45965725-45976739",
                            "ensembl_id": "ENSG00000132763"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "1:45500053-45513382",
                            "ensembl_id": "ENSG00000132763"
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                    }
                },
                "hgnc_date_symbol_changed": "2006-01-12"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Methylmalonic aciduria and homocystinuria, cblC type"
            ],
            "entity_name": "MMACHC",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Red",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "SAS"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:19237",
                "gene_name": "N-acetylneuraminate synthase",
                "omim_gene": [
                    "605202"
                ],
                "alias_name": [
                    "sialic acid synthase"
                ],
                "gene_symbol": "NANS",
                "hgnc_symbol": "NANS",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:100819021-100845357",
                            "ensembl_id": "ENSG00000095380"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:98056739-98083075",
                            "ensembl_id": "ENSG00000095380"
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                    }
                },
                "hgnc_date_symbol_changed": "2002-12-16"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Spondyloepimetaphyseal dysplasia, Camera-Genevieve type"
            ],
            "entity_name": "NANS",
            "entity_type": "gene",
            "publications": [
                "27213289"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Research"
            ],
            "gene_data": {
                "alias": [
                    "KIAA0479",
                    "PNAT2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:16789",
                "gene_name": "nicotinamide nucleotide adenylyltransferase 2",
                "omim_gene": [
                    "608701"
                ],
                "alias_name": null,
                "gene_symbol": "NMNAT2",
                "hgnc_symbol": "NMNAT2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:183217372-183387737",
                            "ensembl_id": "ENSG00000157064"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "1:183248237-183418602",
                            "ensembl_id": "ENSG00000157064"
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                    }
                },
                "hgnc_date_symbol_changed": "2003-05-02"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "hydrops fetalis",
                "cystic hygroma",
                "bilateral hypoplastic lungs",
                "hydrocephalus",
                "hypoplastic cerebellum",
                "severely reduced skeletal muscle mass or absence",
                "flexion contractures of all extremities",
                "micrognathia",
                "cleft palate",
                "hydropic placenta"
            ],
            "entity_name": "NMNAT2",
            "entity_type": "gene",
            "publications": [
                "31136762"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": null
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Red",
                "Literature"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7882",
                "gene_name": "notch 2",
                "omim_gene": [
                    "600275"
                ],
                "alias_name": null,
                "gene_symbol": "NOTCH2",
                "hgnc_symbol": "NOTCH2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:120454176-120612240",
                            "ensembl_id": "ENSG00000134250"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:119911553-120069626",
                            "ensembl_id": "ENSG00000134250"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-11-10"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Hajdu-Cheney syndrome"
            ],
            "entity_name": "NOTCH2",
            "entity_type": "gene",
            "publications": [
                "21378985",
                "21681853"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Red",
                "Literature"
            ],
            "gene_data": {
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                    "N-ras"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7989",
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                    "164790"
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                "hgnc_symbol": "NRAS",
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                            "location": "1:115247090-115259515",
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                "hgnc_date_symbol_changed": "2001-06-22"
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            "penetrance": "Complete",
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                "18671780"
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        {
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                "biotype": "protein_coding",
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                    "GRch37": {
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                            "location": "X:13752832-13787480",
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                "hgnc_date_symbol_changed": "1998-10-01"
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                "Orofaciodigital syndrome I"
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                "NHS GMS",
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                "hgnc_date_symbol_changed": "2002-06-05"
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            "penetrance": "Complete",
            "phenotypes": [
                "Aicardi-Goutieres syndrome 4"
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            "entity_name": "RNASEH2A",
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        {
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                "NHS GMS",
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                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11594",
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                "omim_gene": [
                    "604127"
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                "gene_symbol": "TBX15",
                "hgnc_symbol": "TBX15",
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                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:119425669-119532179",
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                    "GRch38": {
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                            "location": "1:118883046-118989556",
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                "hgnc_date_symbol_changed": "1998-08-26"
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            "penetrance": "Complete",
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                "Cousin syndrome"
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            "entity_name": "TBX15",
            "entity_type": "gene",
            "publications": [
                "19068278"
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            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Red",
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            "gene_data": {
                "alias": [
                    "MGC13379",
                    "HSPC244",
                    "JBTS2"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25018",
                "gene_name": "transmembrane protein 216",
                "omim_gene": [
                    "613277"
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                "alias_name": null,
                "gene_symbol": "TMEM216",
                "hgnc_symbol": "TMEM216",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:61159159-61166335",
                            "ensembl_id": "ENSG00000187049"
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                "hgnc_date_symbol_changed": "2008-06-10"
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            "penetrance": "Complete",
            "phenotypes": [
                "Joubert syndrome 2"
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            "entity_name": "TMEM216",
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            "publications": [
                "20036350"
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            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
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        {
            "tags": [
                "treatable",
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                "NHS GMS",
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                "Illumina TruGenome Clinical Sequencing Services",
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                "alias": [
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                    "CTS"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12405",
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                    "176300"
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                "alias_name": null,
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                            "location": "18:29171689-29178974",
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                "hgnc_date_symbol_changed": "1986-01-01"
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            "penetrance": "Complete",
            "phenotypes": [
                "Amyloidosis, hereditary, transthyretin-related 105210"
            ],
            "entity_name": "TTR",
            "entity_type": "gene",
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                "30120737"
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        {
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                "watchlist"
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                "NHS GMS",
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            "gene_data": {
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                    "SORF-2"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26600",
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                "omim_gene": [
                    "614218"
                ],
                "alias_name": [
                    "protein phosphatase 1, regulatory subunit 166"
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                "hgnc_symbol": "WDR81",
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                "hgnc_date_symbol_changed": "2005-12-16"
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            "penetrance": "Complete",
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                "congenital hydrocephalus"
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            "entity_name": "WDR81",
            "entity_type": "gene",
            "publications": [
                "28556411"
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            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
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    ],
    "stats": {
        "number_of_strs": 0,
        "number_of_genes": 98,
        "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": "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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    ],
    "status": "public",
    "hash_id": "5763f35c8f620350a22bccdf",
    "regions": [],
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    "disease_group": "",
    "version_created": "2019-10-18T15:58:15.300985Z",
    "disease_sub_group": "",
    "relevant_disorders": [
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        "R86"
    ],
    "signed_off": null
}