GET /api/v1/panels/545/?version=1.0
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{
    "id": 545,
    "hash_id": null,
    "name": "Bleeding and platelet disorders",
    "disease_group": "",
    "disease_sub_group": "",
    "status": "public",
    "version": "1.0",
    "version_created": "2019-11-05T12:06:19.027727Z",
    "relevant_disorders": [
        "R90"
    ],
    "stats": {
        "number_of_genes": 111,
        "number_of_strs": 0,
        "number_of_regions": 0
    },
    "types": [
        {
            "name": "GMS Rare Disease",
            "slug": "gms-rare-disease",
            "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
        },
        {
            "name": "GMS signed-off",
            "slug": "gms-signed-off",
            "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
        }
    ],
    "genes": [
        {
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                    "STSL"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13886",
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                "omim_gene": [
                    "605459"
                ],
                "alias_name": [
                    "sterolin 1"
                ],
                "gene_symbol": "ABCG5",
                "hgnc_symbol": "ABCG5",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:44039611-44066004",
                            "ensembl_id": "ENSG00000138075"
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                    },
                    "GRch38": {
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                            "location": "2:43812472-43838865",
                            "ensembl_id": "ENSG00000138075"
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                    }
                },
                "hgnc_date_symbol_changed": "2000-12-12"
            },
            "entity_type": "gene",
            "entity_name": "ABCG5",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "30270055",
                "24623560",
                "27291889"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "210250 Sitosterolemia & Thrombocytopenia"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        },
        {
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                "alias": [
                    "GBD4"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13887",
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                "omim_gene": [
                    "605460"
                ],
                "alias_name": [
                    "gallbladder disease 4",
                    "sterolin 2"
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                "gene_symbol": "ABCG8",
                "hgnc_symbol": "ABCG8",
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                "ensembl_genes": {
                    "GRch37": {
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                            "location": "2:44066103-44105605",
                            "ensembl_id": "ENSG00000143921"
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                    }
                },
                "hgnc_date_symbol_changed": "2000-12-12"
            },
            "entity_type": "gene",
            "entity_name": "ABCG8",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "24166850",
                "27291889"
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            "evidence": [
                "Expert Review Green",
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "210250 Sitosterolemia & Thrombocytopenia"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:132",
                "gene_name": "actin beta",
                "omim_gene": [
                    "102630"
                ],
                "alias_name": null,
                "gene_symbol": "ACTB",
                "hgnc_symbol": "ACTB",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:5566782-5603415",
                            "ensembl_id": "ENSG00000075624"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "7:5527151-5563784",
                            "ensembl_id": "ENSG00000075624"
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                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "ACTB",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "30451859"
            ],
            "evidence": [
                "Expert Review Green",
                "North West GLH",
                "London South GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "(NO OMIM NUMBER)",
                "AD thrombocytopenia"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:163",
                "gene_name": "actinin alpha 1",
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                    "102575"
                ],
                "alias_name": null,
                "gene_symbol": "ACTN1",
                "hgnc_symbol": "ACTN1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "14:69340860-69446157",
                            "ensembl_id": "ENSG00000072110"
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                    "GRch38": {
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                            "location": "14:68874143-68979440",
                            "ensembl_id": "ENSG00000072110"
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                    }
                },
                "hgnc_date_symbol_changed": "1990-08-21"
            },
            "entity_type": "gene",
            "entity_name": "ACTN1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "25361813",
                "23434115",
                "25949529"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "615193 Bleeding disorder, platelet-type, 15"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "HHT2",
                    "ALK1",
                    "HHT"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:175",
                "gene_name": "activin A receptor like type 1",
                "omim_gene": [
                    "601284"
                ],
                "alias_name": null,
                "gene_symbol": "ACVRL1",
                "hgnc_symbol": "ACVRL1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:52300692-52317145",
                            "ensembl_id": "ENSG00000139567"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:51906908-51923361",
                            "ensembl_id": "ENSG00000139567"
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                    }
                },
                "hgnc_date_symbol_changed": "1994-12-12"
            },
            "entity_type": "gene",
            "entity_name": "ACVRL1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "16752392",
                "25970827",
                "30251589"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
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            ],
            "phenotypes": [
                "600376 Telangiectasia, hereditary hemorrhagic, type 2"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "VWFCP",
                    "TTP",
                    "vWF-CP",
                    "FLJ42993",
                    "MGC118899",
                    "MGC118900",
                    "DKFZp434C2322"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1366",
                "gene_name": "ADAM metallopeptidase with thrombospondin type 1 motif 13",
                "omim_gene": [
                    "604134"
                ],
                "alias_name": null,
                "gene_symbol": "ADAMTS13",
                "hgnc_symbol": "ADAMTS13",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:136279478-136324508",
                            "ensembl_id": "ENSG00000160323"
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                    },
                    "GRch38": {
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                            "location": "9:133414358-133459402",
                            "ensembl_id": "ENSG00000160323"
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                    }
                },
                "hgnc_date_symbol_changed": "2001-09-21"
            },
            "entity_type": "gene",
            "entity_name": "ADAMTS13",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "15009458",
                "11586351",
                "12753286"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "274150 Thrombotic thrombocytopenic purpura, familial"
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            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "KIAA1074"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29186",
                "gene_name": "ankyrin repeat domain 26",
                "omim_gene": [
                    "610855"
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                "alias_name": null,
                "gene_symbol": "ANKRD26",
                "hgnc_symbol": "ANKRD26",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:27280843-27389421",
                            "ensembl_id": "ENSG00000107890"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "10:26991914-27100498",
                            "ensembl_id": "ENSG00000107890"
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                    }
                },
                "hgnc_date_symbol_changed": "2004-02-04"
            },
            "entity_type": "gene",
            "entity_name": "ANKRD26",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "21467542",
                "24030261",
                "21211618"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "188000 Thrombocytopenia 2"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "DKFZp313M0720"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25240",
                "gene_name": "anoctamin 6",
                "omim_gene": [
                    "608663"
                ],
                "alias_name": null,
                "gene_symbol": "ANO6",
                "hgnc_symbol": "ANO6",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "12:45609770-45834187",
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                    },
                    "GRch38": {
                        "90": {
                            "location": "12:45215987-45440404",
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                    }
                },
                "hgnc_date_symbol_changed": "2008-08-28"
            },
            "entity_type": "gene",
            "entity_name": "ANO6",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "21511967",
                "21107324",
                "27879994"
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            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "262890 Scott syndrome"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:566",
                "gene_name": "adaptor related protein complex 3 beta 1 subunit",
                "omim_gene": [
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                "alias_name": null,
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                "hgnc_symbol": "AP3B1",
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                "ensembl_genes": {
                    "GRch37": {
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                            "location": "5:77296349-77590579",
                            "ensembl_id": "ENSG00000132842"
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                    },
                    "GRch38": {
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                            "location": "5:78000525-78294755",
                            "ensembl_id": "ENSG00000132842"
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                    }
                },
                "hgnc_date_symbol_changed": "2000-09-01"
            },
            "entity_type": "gene",
            "entity_name": "AP3B1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "28585318",
                "23403622",
                "26684649"
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            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
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            "phenotypes": [
                "608233 Hermansky-Pudlak syndrome 2"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "ADTD"
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                "biotype": "protein_coding",
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                "gene_symbol": "AP3D1",
                "hgnc_symbol": "AP3D1",
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                "ensembl_genes": {
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                            "location": "19:2100988-2164464",
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                    },
                    "GRch38": {
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                            "location": "19:2100988-2164465",
                            "ensembl_id": "ENSG00000065000"
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                    }
                },
                "hgnc_date_symbol_changed": "2000-09-01"
            },
            "entity_type": "gene",
            "entity_name": "AP3D1",
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            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "28936583",
                "26744459"
            ],
            "evidence": [
                "North West GLH",
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                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "617050 ?Hermansky-Pudlak syndrome 10"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "ARC41",
                    "p40-ARC",
                    "p41-ARC"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:704",
                "gene_name": "actin related protein 2/3 complex subunit 1B",
                "omim_gene": [
                    "604223"
                ],
                "alias_name": [
                    "ARP2/3 protein complex subunit p41",
                    "actin related protein 2/3 complex, subunit 1A (41 kD)"
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                "gene_symbol": "ARPC1B",
                "hgnc_symbol": "ARPC1B",
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                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:98971872-98992424",
                            "ensembl_id": "ENSG00000130429"
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                    },
                    "GRch38": {
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                            "location": "7:99374249-99394801",
                            "ensembl_id": "ENSG00000130429"
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                    }
                },
                "hgnc_date_symbol_changed": "1999-08-06"
            },
            "entity_type": "gene",
            "entity_name": "ARPC1B",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "29127144",
                "28368018"
            ],
            "evidence": [
                "North West GLH",
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                "London South GLH",
                "NHS GMS",
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                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "617718 Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
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                    "HPS8"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:20914",
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                "omim_gene": [
                    "609762"
                ],
                "alias_name": [
                    "BLOC-1 subunit 3",
                    "Biogenesis of Lysosome-related Organelles complex-1 Subunit 3",
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                ],
                "gene_symbol": "BLOC1S3",
                "hgnc_symbol": "BLOC1S3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:45682003-45685059",
                            "ensembl_id": "ENSG00000189114"
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                    },
                    "GRch38": {
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                            "location": "19:45178745-45181801",
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                "hgnc_date_symbol_changed": "2004-05-24"
            },
            "entity_type": "gene",
            "entity_name": "BLOC1S3",
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            "mode_of_pathogenicity": "",
            "publications": [
                "16385460",
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            "evidence": [
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                "Yorkshire and North East GLH",
                "London South GLH",
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            ],
            "phenotypes": [
                "614077 Hermansky-Pudlak syndrome 8"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
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                "biotype": "protein_coding",
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                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "BLOC1S6",
                "hgnc_symbol": "BLOC1S6",
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                "ensembl_genes": {
                    "GRch37": {
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                            "location": "15:45879321-45908197",
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                    },
                    "GRch38": {
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                            "location": "15:45587123-45615999",
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                    }
                },
                "hgnc_date_symbol_changed": "2012-08-01"
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            "entity_type": "gene",
            "entity_name": "BLOC1S6",
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            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "22461475",
                "29054114"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
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            ],
            "phenotypes": [
                "614171 ?Hermansky-pudlak syndrome 9"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1736",
                "gene_name": "cell division cycle 42",
                "omim_gene": [
                    "116952"
                ],
                "alias_name": [
                    "GTP binding protein, 25kDa"
                ],
                "gene_symbol": "CDC42",
                "hgnc_symbol": "CDC42",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:22379120-22419437",
                            "ensembl_id": "ENSG00000070831"
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                    },
                    "GRch38": {
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                            "location": "1:22052627-22092946",
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                },
                "hgnc_date_symbol_changed": "1991-06-06"
            },
            "entity_type": "gene",
            "entity_name": "CDC42",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "26708094",
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            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
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                "Wessex and West Midlands GLH"
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            "phenotypes": [
                "616737 Takenouchi-Kosaki syndrome"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": []
        },
        {
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                    "CYC"
                ],
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                "hgnc_id": "HGNC:19986",
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                "omim_gene": [
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                ],
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                    },
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                    }
                },
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            },
            "entity_type": "gene",
            "entity_name": "CYCS",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "18345000",
                "27479822",
                "24326104"
            ],
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                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "612004 Thrombocytopenia 4"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": []
        },
        {
            "gene_data": {
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                    "LFHL1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2876",
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                "omim_gene": [
                    "602121"
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                "alias_name": null,
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                "hgnc_symbol": "DIAPH1",
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                "ensembl_genes": {
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                            "location": "5:140894583-140998622",
                            "ensembl_id": "ENSG00000131504"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "5:141515016-141619055",
                            "ensembl_id": "ENSG00000131504"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-03-17"
            },
            "entity_type": "gene",
            "entity_name": "DIAPH1",
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            "penetrance": null,
            "mode_of_pathogenicity": "",
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                "28815995",
                "26912466",
                "27707755"
            ],
            "evidence": [
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                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "(NO OMIM NUMBER)",
                "124900 Macrothrombocytopenia and hearing loss",
                "Macrothrombocytopenia and hearing loss"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": []
        },
        {
            "gene_data": {
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                    "Dysbindin",
                    "My031",
                    "HPS7",
                    "DBND",
                    "BLOC1S8"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17328",
                "gene_name": "dystrobrevin binding protein 1",
                "omim_gene": [
                    "607145"
                ],
                "alias_name": [
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                    "biogenesis of lysosomal organelles complex-1, subunit 8"
                ],
                "gene_symbol": "DTNBP1",
                "hgnc_symbol": "DTNBP1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:15523032-15663289",
                            "ensembl_id": "ENSG00000047579"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "6:15522801-15663058",
                            "ensembl_id": "ENSG00000047579"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-01-15"
            },
            "entity_type": "gene",
            "entity_name": "DTNBP1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "12923531",
                "23364359",
                "28259707"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "614076 Hermansky-Pudlak syndrome 7"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "END",
                    "HHT1",
                    "CD105"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3349",
                "gene_name": "endoglin",
                "omim_gene": [
                    "131195"
                ],
                "alias_name": null,
                "gene_symbol": "ENG",
                "hgnc_symbol": "ENG",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:130577291-130617035",
                            "ensembl_id": "ENSG00000106991"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:127815012-127854756",
                            "ensembl_id": "ENSG00000106991"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-03-03"
            },
            "entity_type": "gene",
            "entity_name": "ENG",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "7894484",
                "25970827",
                "30251589"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "187300 Telangiectasia, hereditary hemorrhagic, type 1"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "TEL"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3495",
                "gene_name": "ETS variant 6",
                "omim_gene": [
                    "600618"
                ],
                "alias_name": [
                    "TEL oncogene"
                ],
                "gene_symbol": "ETV6",
                "hgnc_symbol": "ETV6",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:11802788-12048336",
                            "ensembl_id": "ENSG00000139083"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:11649854-11895402",
                            "ensembl_id": "ENSG00000139083"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-11-28"
            },
            "entity_type": "gene",
            "entity_name": "ETV6",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "27365488",
                "27663637",
                "28555414"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "616216 Thrombocytopenia 5"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3528",
                "gene_name": "coagulation factor X",
                "omim_gene": [
                    "613872"
                ],
                "alias_name": null,
                "gene_symbol": "F10",
                "hgnc_symbol": "F10",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "13:113777128-113803843",
                            "ensembl_id": "ENSG00000126218"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "13:113122814-113149529",
                            "ensembl_id": "ENSG00000126218"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "F10",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "21854511",
                "20331754",
                "9198147"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "227600 Factor X deficiency"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "FXI"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3529",
                "gene_name": "coagulation factor XI",
                "omim_gene": [
                    "264900"
                ],
                "alias_name": [
                    "plasma thromboplastin antecedent"
                ],
                "gene_symbol": "F11",
                "hgnc_symbol": "F11",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:187187099-187210835",
                            "ensembl_id": "ENSG00000088926"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:186265945-186288806",
                            "ensembl_id": "ENSG00000088926"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1988-05-11"
            },
            "entity_type": "gene",
            "entity_name": "F11",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "16835901",
                "24112640",
                "29178608"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "612416 Factor XI deficiency"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3530",
                "gene_name": "coagulation factor XII",
                "omim_gene": [
                    "610619"
                ],
                "alias_name": null,
                "gene_symbol": "F12",
                "hgnc_symbol": "F12",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:176829141-176836577",
                            "ensembl_id": "ENSG00000131187"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:177402140-177409576",
                            "ensembl_id": "ENSG00000131187"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "F12",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "9354665",
                "20386432",
                "27003566"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "234000 Factor XII deficiency",
                "234000 Factor XII deficiency, hereditary Angioedema type III",
                "610618 Hereditary Angioedema type III"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3531",
                "gene_name": "coagulation factor XIII A chain",
                "omim_gene": [
                    "134570"
                ],
                "alias_name": null,
                "gene_symbol": "F13A1",
                "hgnc_symbol": "F13A1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:6144318-6321246",
                            "ensembl_id": "ENSG00000124491"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:6144085-6321013",
                            "ensembl_id": "ENSG00000124491"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "F13A1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "26852661",
                "28520207",
                "8555083"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "613225 Factor XIII deficiency"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
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                    "FXIIIB"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3534",
                "gene_name": "coagulation factor XIII B chain",
                "omim_gene": [
                    "134580"
                ],
                "alias_name": null,
                "gene_symbol": "F13B",
                "hgnc_symbol": "F13B",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:197008321-197036397",
                            "ensembl_id": "ENSG00000143278"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:197039191-197067267",
                            "ensembl_id": "ENSG00000143278"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "F13B",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "11313256",
                "8324218",
                "20331752"
            ],
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                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "613235 Factor XIII deficiency"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3535",
                "gene_name": "coagulation factor II, thrombin",
                "omim_gene": [
                    "176930"
                ],
                "alias_name": [
                    "prepro-coagulation factor II"
                ],
                "gene_symbol": "F2",
                "hgnc_symbol": "F2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:46740730-46761056",
                            "ensembl_id": "ENSG00000180210"
                        }
                    },
                    "GRch38": {
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                            "location": "11:46719180-46739506",
                            "ensembl_id": "ENSG00000180210"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "F2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Wessex and West Midlands GLH",
                "North West GLH",
                "Yorkshire and North East GLH",
                "Expert Review Green",
                "NHS GMS",
                "London South GLH"
            ],
            "phenotypes": [
                "613679 Factor II deficiency"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3542",
                "gene_name": "coagulation factor V",
                "omim_gene": [
                    "612309"
                ],
                "alias_name": null,
                "gene_symbol": "F5",
                "hgnc_symbol": "F5",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "1:169483404-169555826",
                            "ensembl_id": "ENSG00000198734"
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                    },
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                        "90": {
                            "location": "1:169514166-169586588",
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                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "F5",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
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                "20546033",
                "19486170"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
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            "phenotypes": [
                "227400 Factor V deficiency, 188055 Thrombophilia due to activated protein C resistance, 188055 {Thrombophilia, susceptibility to, due to factor V Leiden}",
                "227400 Factor V deficiency",
                "188055 {Thrombophilia, susceptibility to, due to factor V Leiden}",
                "188055 Thrombophilia due to activated protein C resistance"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
            "tags": []
        },
        {
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                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3544",
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                "omim_gene": [
                    "613878"
                ],
                "alias_name": [
                    "eptacog alfa",
                    "FVII coagulation protein",
                    "factor VII"
                ],
                "gene_symbol": "F7",
                "hgnc_symbol": "F7",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "13:113760105-113774995",
                            "ensembl_id": "ENSG00000057593"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "13:113105788-113120681",
                            "ensembl_id": "ENSG00000057593"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "F7",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "11129332",
                "21206266",
                "10862079"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "227500 Factor VII deficiency"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "FVIII",
                    "DXS1253E",
                    "HEMA"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3546",
                "gene_name": "coagulation factor VIII",
                "omim_gene": [
                    "300841"
                ],
                "alias_name": [
                    "Factor VIIIF8B",
                    "hemophilia A"
                ],
                "gene_symbol": "F8",
                "hgnc_symbol": "F8",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:154064063-154255215",
                            "ensembl_id": "ENSG00000185010"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:154835788-155026940",
                            "ensembl_id": "ENSG00000185010"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "F8",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "22103590",
                "11857744",
                "18217193"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "306700 Haemophilia A"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "FIX"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3551",
                "gene_name": "coagulation factor IX",
                "omim_gene": [
                    "300746"
                ],
                "alias_name": [
                    "Factor IX",
                    "plasma thromboplastic component",
                    "Christmas disease",
                    "hemophilia B"
                ],
                "gene_symbol": "F9",
                "hgnc_symbol": "F9",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:138612917-138645617",
                            "ensembl_id": "ENSG00000101981"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:139530758-139563458",
                            "ensembl_id": "ENSG00000101981"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "F9",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "7937052",
                "22103590",
                "15921378"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "306900 Haemophilia B"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "URP2",
                    "KIND3",
                    "MIG2B",
                    "MGC10966",
                    "MIG-2",
                    "UNC112C"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:23151",
                "gene_name": "fermitin family member 3",
                "omim_gene": [
                    "607901"
                ],
                "alias_name": [
                    "kindlin-3"
                ],
                "gene_symbol": "FERMT3",
                "hgnc_symbol": "FERMT3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:63974150-63991354",
                            "ensembl_id": "ENSG00000149781"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:64206678-64223886",
                            "ensembl_id": "ENSG00000149781"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-12-14"
            },
            "entity_type": "gene",
            "entity_name": "FERMT3",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "20357244",
                "20216991"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "612840 Leukocyte integrin adhesion deficiency, type III"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3661",
                "gene_name": "fibrinogen alpha chain",
                "omim_gene": [
                    "134820"
                ],
                "alias_name": null,
                "gene_symbol": "FGA",
                "hgnc_symbol": "FGA",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:155504278-155511918",
                            "ensembl_id": "ENSG00000171560"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:154583126-154590766",
                            "ensembl_id": "ENSG00000171560"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "FGA",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "18771425",
                "23061815",
                "25427968"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "202400 Afibrinogenemia, congenital",
                "616004 Hypodysfibrinogenemia, congenital",
                "105200 Amyloidosis, familial visceral",
                "616004 Dysfibrinogenemia, congenital"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3662",
                "gene_name": "fibrinogen beta chain",
                "omim_gene": [
                    "134830"
                ],
                "alias_name": null,
                "gene_symbol": "FGB",
                "hgnc_symbol": "FGB",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:155484108-155492238",
                            "ensembl_id": "ENSG00000171564"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:154562956-154571086",
                            "ensembl_id": "ENSG00000171564"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "FGB",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "1565641",
                "12161363",
                "19404555"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "202400 Afibrinogenemia, congenital",
                "202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital",
                "616004 Dysfibrinogenemia, congenital",
                "202400 Hypofibrinogenemia, congenital",
                "202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3694",
                "gene_name": "fibrinogen gamma chain",
                "omim_gene": [
                    "134850"
                ],
                "alias_name": null,
                "gene_symbol": "FGG",
                "hgnc_symbol": "FGG",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:155525286-155534119",
                            "ensembl_id": "ENSG00000171557"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:154604134-154612967",
                            "ensembl_id": "ENSG00000171557"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "FGG",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "17295221",
                "30418131",
                "30349899"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "202400 Afibrinogenemia, congenital",
                "616004 Hypodysfibrinogenemia, congenital",
                "616004 Dysfibrinogenemia, congenital"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "SIC-1",
                    "EWSR2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3749",
                "gene_name": "Fli-1 proto-oncogene, ETS transcription factor",
                "omim_gene": [
                    "193067"
                ],
                "alias_name": null,
                "gene_symbol": "FLI1",
                "hgnc_symbol": "FLI1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:128556430-128683162",
                            "ensembl_id": "ENSG00000151702"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:128686535-128813267",
                            "ensembl_id": "ENSG00000151702"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-06-05"
            },
            "entity_type": "gene",
            "entity_name": "FLI1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "26316623",
                "24100448",
                "28255014"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "617443 BLEEDING DISORDER, PLATELET-TYPE, 21",
                "BDPLT21",
                "617443.BLEEDING DISORDER, PLATELET-TYPE, 21"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "SLAP-130",
                    "FYB-120/130",
                    "ADAP"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4036",
                "gene_name": "FYN binding protein 1",
                "omim_gene": [
                    "602731"
                ],
                "alias_name": [
                    "adhesion and degranulation promoting adaptor protein"
                ],
                "gene_symbol": "FYB1",
                "hgnc_symbol": "FYB1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:39105338-39274630",
                            "ensembl_id": "ENSG00000082074"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:39105236-39274528",
                            "ensembl_id": "ENSG00000082074"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2017-05-25"
            },
            "entity_type": "gene",
            "entity_name": "FYB1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "25516138",
                "25876182"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "273900 Thrombocytopenia 3"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "ERYF1",
                    "NFE1",
                    "GATA-1",
                    "NF-E1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4170",
                "gene_name": "GATA binding protein 1",
                "omim_gene": [
                    "305371"
                ],
                "alias_name": [
                    "nuclear factor, erythroid 1"
                ],
                "gene_symbol": "GATA1",
                "hgnc_symbol": "GATA1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:48644962-48652716",
                            "ensembl_id": "ENSG00000102145"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:48786554-48794311",
                            "ensembl_id": "ENSG00000102145"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1990-09-10"
            },
            "entity_type": "gene",
            "entity_name": "GATA1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "10700180",
                "23704091",
                "16103636"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "GBA1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4177",
                "gene_name": "glucosylceramidase beta",
                "omim_gene": [
                    "606463"
                ],
                "alias_name": null,
                "gene_symbol": "GBA",
                "hgnc_symbol": "GBA",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:155204243-155214490",
                            "ensembl_id": "ENSG00000177628"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:155234452-155244699",
                            "ensembl_id": "ENSG00000177628"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "GBA",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "27265538",
                "27816428",
                "20575041"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "230900 Gaucher disease, type II",
                "231005 Gaucher disease, type IIIC",
                "231000 Gaucher disease, type III",
                "230800 Gaucher disease, type I"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "ZNF163B"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4238",
                "gene_name": "growth factor independent 1B transcriptional repressor",
                "omim_gene": [
                    "604383"
                ],
                "alias_name": null,
                "gene_symbol": "GFI1B",
                "hgnc_symbol": "GFI1B",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:135820932-135867083",
                            "ensembl_id": "ENSG00000165702"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:132944000-132991687",
                            "ensembl_id": "ENSG00000165702"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-09-17"
            },
            "entity_type": "gene",
            "entity_name": "GFI1B",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "23927492",
                "28041820"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "187900 Bleeding disorder, platelet-type, 17"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "VKCFD1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4247",
                "gene_name": "gamma-glutamyl carboxylase",
                "omim_gene": [
                    "137167"
                ],
                "alias_name": [
                    "vitamin K-dependent gamma-carboxylase"
                ],
                "gene_symbol": "GGCX",
                "hgnc_symbol": "GGCX",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:85771846-85788670",
                            "ensembl_id": "ENSG00000115486"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:85544723-85561547",
                            "ensembl_id": "ENSG00000115486"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-07-04"
            },
            "entity_type": "gene",
            "entity_name": "GGCX",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "25151188",
                "28679738",
                "21435120"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "277450 Vitamin K-dependent clotting factors, combined deficiency of, 1"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "Uae1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:23657",
                "gene_name": "glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase",
                "omim_gene": [
                    "603824"
                ],
                "alias_name": [
                    "bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase"
                ],
                "gene_symbol": "GNE",
                "hgnc_symbol": "GNE",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:36214438-36277053",
                            "ensembl_id": "ENSG00000159921"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:36214441-36277056",
                            "ensembl_id": "ENSG00000159921"
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                    }
                },
                "hgnc_date_symbol_changed": "2003-11-28"
            },
            "entity_type": "gene",
            "entity_name": "GNE",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "27479822",
                "29941673",
                "30171045"
            ],
            "evidence": [
                "Expert Review Green",
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "(NO OMIM NUMBER)",
                "Myopathy associated with thrombocytopenia"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "CD42b",
                    "GPIbalpha"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4439",
                "gene_name": "glycoprotein Ib platelet alpha subunit",
                "omim_gene": [
                    "606672"
                ],
                "alias_name": [
                    "platelet glycoprotein Ib alpha chain"
                ],
                "gene_symbol": "GP1BA",
                "hgnc_symbol": "GP1BA",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:4835592-4838325",
                            "ensembl_id": "ENSG00000185245"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:4932297-4935030",
                            "ensembl_id": "ENSG00000185245"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1990-09-10"
            },
            "entity_type": "gene",
            "entity_name": "GP1BA",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "24934643",
                "9616133",
                "21357716"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "BSS",
                "231200 BERNARD-SOULIER SYNDROME",
                "177820 von Willebrand disease, platelet-type",
                "231200BERNARD-SOULIER SYNDROME"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "CD42c",
                    "GPIbbeta"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4440",
                "gene_name": "glycoprotein Ib platelet beta subunit",
                "omim_gene": [
                    "138720"
                ],
                "alias_name": [
                    "platelet glycoprotein Ib beta chain"
                ],
                "gene_symbol": "GP1BB",
                "hgnc_symbol": "GP1BB",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "22:19710468-19712294",
                            "ensembl_id": "ENSG00000203618"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "22:19722945-19724771",
                            "ensembl_id": "ENSG00000203618"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-11-21"
            },
            "entity_type": "gene",
            "entity_name": "GP1BB",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "24934643",
                "9616133",
                "21357716"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "BSS",
                "231200 BERNARD-SOULIER SYNDROME",
                "231200BERNARD-SOULIER SYNDROME"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "GPVI"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14388",
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                "omim_gene": [
                    "605546"
                ],
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                "hgnc_symbol": "GP6",
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                "ensembl_genes": {
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                    },
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                    }
                },
                "hgnc_date_symbol_changed": "2001-01-19"
            },
            "entity_type": "gene",
            "entity_name": "GP6",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "19552682",
                "19549989"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "614201 Bleeding disorder, platelet-type, 11"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "CD42a",
                    "GPIX"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4444",
                "gene_name": "glycoprotein IX platelet",
                "omim_gene": [
                    "173515"
                ],
                "alias_name": [
                    "platelet glycoprotein IX"
                ],
                "gene_symbol": "GP9",
                "hgnc_symbol": "GP9",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:128779610-128781249",
                            "ensembl_id": "ENSG00000169704"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:129060767-129062406",
                            "ensembl_id": "ENSG00000169704"
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                    }
                },
                "hgnc_date_symbol_changed": "1991-03-04"
            },
            "entity_type": "gene",
            "entity_name": "GP9",
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            "mode_of_pathogenicity": "",
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                "24934643",
                "9616133",
                "21357716"
            ],
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                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "BSS",
                "231200 BERNARD-SOULIER SYNDROME",
                "231200BERNARD-SOULIER SYNDROME",
                "231200.BERNARD-SOULIER SYNDROME"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:5101",
                "gene_name": "homeobox A11",
                "omim_gene": [
                    "142958"
                ],
                "alias_name": null,
                "gene_symbol": "HOXA11",
                "hgnc_symbol": "HOXA11",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:27221129-27224842",
                            "ensembl_id": "ENSG00000005073"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:27181510-27185223",
                            "ensembl_id": "ENSG00000005073"
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                    }
                },
                "hgnc_date_symbol_changed": "1990-07-05"
            },
            "entity_type": "gene",
            "entity_name": "HOXA11",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "16765069",
                "11101832"
            ],
            "evidence": [
                "Expert Review Green",
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": []
        },
        {
            "gene_data": {
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                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:5163",
                "gene_name": "HPS1, biogenesis of lysosomal organelles complex 3 subunit 1",
                "omim_gene": [
                    "604982"
                ],
                "alias_name": null,
                "gene_symbol": "HPS1",
                "hgnc_symbol": "HPS1",
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                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:100175955-100206684",
                            "ensembl_id": "ENSG00000107521"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:98416198-98446947",
                            "ensembl_id": "ENSG00000107521"
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                    }
                },
                "hgnc_date_symbol_changed": "2002-05-01"
            },
            "entity_type": "gene",
            "entity_name": "HPS1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
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                "27514596",
                "29345414",
                "12442288",
                "25707719"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "203300 Hermansky-Pudlak syndrome 1"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "SUTAL",
                    "BLOC2S1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:15597",
                "gene_name": "HPS3, biogenesis of lysosomal organelles complex 2 subunit 1",
                "omim_gene": [
                    "606118"
                ],
                "alias_name": null,
                "gene_symbol": "HPS3",
                "hgnc_symbol": "HPS3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:148847371-148891519",
                            "ensembl_id": "ENSG00000163755"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "3:149129584-149173732",
                            "ensembl_id": "ENSG00000163755"
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                    }
                },
                "hgnc_date_symbol_changed": "2001-06-13"
            },
            "entity_type": "gene",
            "entity_name": "HPS3",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "27514596",
                "11590544",
                "28284561"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "614072 Hermansky-Pudlak syndrome 3"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "KIAA1667",
                    "LE",
                    "BLOC3S2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:15844",
                "gene_name": "HPS4, biogenesis of lysosomal organelles complex 3 subunit 2",
                "omim_gene": [
                    "606682"
                ],
                "alias_name": null,
                "gene_symbol": "HPS4",
                "hgnc_symbol": "HPS4",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "22:26839389-26879803",
                            "ensembl_id": "ENSG00000100099"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "22:26443423-26483837",
                            "ensembl_id": "ENSG00000100099"
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                    }
                },
                "hgnc_date_symbol_changed": "2001-06-28"
            },
            "entity_type": "gene",
            "entity_name": "HPS4",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
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                "12664304",
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            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "614073 Hermansky-Pudlak syndrome 4"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "BLOC2S2",
                    "AIBP63",
                    "RU2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17022",
                "gene_name": "HPS5, biogenesis of lysosomal organelles complex 2 subunit 2",
                "omim_gene": [
                    "607521"
                ],
                "alias_name": [
                    "alpha-integrin-binding protein 63",
                    "Ruby-eye protein 2 homolog"
                ],
                "gene_symbol": "HPS5",
                "hgnc_symbol": "HPS5",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:18300223-18343745",
                            "ensembl_id": "ENSG00000110756"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "11:18278668-18322198",
                            "ensembl_id": "ENSG00000110756"
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                    }
                },
                "hgnc_date_symbol_changed": "2002-06-13"
            },
            "entity_type": "gene",
            "entity_name": "HPS5",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "27514596",
                "28296950",
                "28640947"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "614074 Hermansky-Pudlak syndrome 5"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ22501",
                    "BLOC2S3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:18817",
                "gene_name": "HPS6, biogenesis of lysosomal organelles complex 2 subunit 3",
                "omim_gene": [
                    "607522"
                ],
                "alias_name": null,
                "gene_symbol": "HPS6",
                "hgnc_symbol": "HPS6",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:103825147-103827792",
                            "ensembl_id": "ENSG00000166189"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "10:102065390-102068038",
                            "ensembl_id": "ENSG00000166189"
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                    }
                },
                "hgnc_date_symbol_changed": "2004-02-04"
            },
            "entity_type": "gene",
            "entity_name": "HPS6",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "27514596",
                "27593200",
                "19843503"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "614075 Hermansky-Pudlak syndrome 6"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "CD41B",
                    "CD41",
                    "PPP1R93"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6138",
                "gene_name": "integrin subunit alpha 2b",
                "omim_gene": [
                    "607759"
                ],
                "alias_name": [
                    "protein phosphatase 1, regulatory subunit 93",
                    "platelet glycoprotein IIb of IIb/IIIa complex"
                ],
                "gene_symbol": "ITGA2B",
                "hgnc_symbol": "ITGA2B",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:42449548-42466873",
                            "ensembl_id": "ENSG00000005961"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "17:44372180-44389505",
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                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "ITGA2B",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "29675921",
                "25728920",
                "24498605"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "273800 Glanzmann thrombasthenia",
                "187800 Bleeding disorder, platelet-type, 16, autosomal dominant"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "CD61",
                    "GPIIIa"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6156",
                "gene_name": "integrin subunit beta 3",
                "omim_gene": [
                    "173470"
                ],
                "alias_name": [
                    "platelet glycoprotein IIIa",
                    "antigen CD61"
                ],
                "gene_symbol": "ITGB3",
                "hgnc_symbol": "ITGB3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:45331212-45421658",
                            "ensembl_id": "ENSG00000259207"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:47253846-47311816",
                            "ensembl_id": "ENSG00000259207"
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                    }
                },
                "hgnc_date_symbol_changed": "1988-06-09"
            },
            "entity_type": "gene",
            "entity_name": "ITGB3",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
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                "25728920",
                "20020534"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
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            "phenotypes": [
                "273800 Glanzmann thrombasthenia",
                "187800 Bleeding disorder, platelet-type, 16, autosomal dominant"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "DHSR",
                    "SDR35C1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4021",
                "gene_name": "3-ketodihydrosphingosine reductase",
                "omim_gene": [
                    "136440"
                ],
                "alias_name": [
                    "3-dehydrosphinganine reductase",
                    "short chain dehydrogenase/reductase family 35C, member 1"
                ],
                "gene_symbol": "KDSR",
                "hgnc_symbol": "KDSR",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "18:60994959-61034743",
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                    },
                    "GRch38": {
                        "90": {
                            "location": "18:63327726-63367510",
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                    }
                },
                "hgnc_date_symbol_changed": "2008-02-20"
            },
            "entity_type": "gene",
            "entity_name": "KDSR",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
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            ],
            "evidence": [
                "Expert Review Green",
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                "London South GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "(NO OMIM NUMBER OR DISEASE)",
                "Recessive severe thrombocytopenia with progression to marrow fibrosis at young age"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6371",
                "gene_name": "kallikrein B1",
                "omim_gene": [
                    "229000"
                ],
                "alias_name": [
                    "Fletcher factor"
                ],
                "gene_symbol": "KLKB1",
                "hgnc_symbol": "KLKB1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:187130133-187179625",
                            "ensembl_id": "ENSG00000164344"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "4:186208979-186258471",
                            "ensembl_id": "ENSG00000164344"
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                    }
                },
                "hgnc_date_symbol_changed": "1999-04-23"
            },
            "entity_type": "gene",
            "entity_name": "KLKB1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "17598838",
                "14652634",
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            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
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            "phenotypes": [
                "612423 Fletcher factor (prekallikrein) deficiency"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
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                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6383",
                "gene_name": "kininogen 1",
                "omim_gene": [
                    "612358"
                ],
                "alias_name": [
                    "alpha-2-thiol proteinase inhibitor",
                    "bradykinin"
                ],
                "gene_symbol": "KNG1",
                "hgnc_symbol": "KNG1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:186435065-186461743",
                            "ensembl_id": "ENSG00000113889"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "3:186717276-186743954",
                            "ensembl_id": "ENSG00000113889"
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                    }
                },
                "hgnc_date_symbol_changed": "2004-05-26"
            },
            "entity_type": "gene",
            "entity_name": "KNG1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "12576314",
                "24492696",
                "7901207"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "228960 [High molecular weight kininogen deficiency]",
                "228960 [High molecular weight kininogen deficiency]/[Kininogen deficiency]",
                "[Kininogen deficiency]"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "MR60",
                    "ERGIC-53",
                    "ERGIC53",
                    "gp58",
                    "MCFD1",
                    "FMFD1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6631",
                "gene_name": "lectin, mannose binding 1",
                "omim_gene": [
                    "601567"
                ],
                "alias_name": [
                    "endoplasmic reticulum-golgi intermediate compartment protein 53"
                ],
                "gene_symbol": "LMAN1",
                "hgnc_symbol": "LMAN1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "18:56995055-57027194",
                            "ensembl_id": "ENSG00000074695"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "18:59327823-59359962",
                            "ensembl_id": "ENSG00000074695"
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                    }
                },
                "hgnc_date_symbol_changed": "1996-06-06"
            },
            "entity_type": "gene",
            "entity_name": "LMAN1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "10090934",
                "10090935",
                "16304051"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "227300 Combined factor V and VIII deficiency"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "CHS"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1968",
                "gene_name": "lysosomal trafficking regulator",
                "omim_gene": [
                    "606897"
                ],
                "alias_name": null,
                "gene_symbol": "LYST",
                "hgnc_symbol": "LYST",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:235824341-236046940",
                            "ensembl_id": "ENSG00000143669"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:235661041-235883640",
                            "ensembl_id": "ENSG00000143669"
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                    }
                },
                "hgnc_date_symbol_changed": "2004-12-10"
            },
            "entity_type": "gene",
            "entity_name": "LYST",
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            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "9215680",
                "11857544",
                "21209802"
            ],
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                "North West GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "214500 Chediak-Higashi syndrome"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "F5F8D",
                    "LMAN1IP",
                    "SDNSF"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:18451",
                "gene_name": "multiple coagulation factor deficiency 2",
                "omim_gene": [
                    "607788"
                ],
                "alias_name": null,
                "gene_symbol": "MCFD2",
                "hgnc_symbol": "MCFD2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:47129009-47168994",
                            "ensembl_id": "ENSG00000180398"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:46901870-46941855",
                            "ensembl_id": "ENSG00000180398"
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                    }
                },
                "hgnc_date_symbol_changed": "2003-06-24"
            },
            "entity_type": "gene",
            "entity_name": "MCFD2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "20004600",
                "12717434",
                "16304051"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "613625 Factor V and factor VIII, combined deficiency of"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "MDS1-EVI1",
                    "PRDM3",
                    "KMT8E"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3498",
                "gene_name": "MDS1 and EVI1 complex locus",
                "omim_gene": [
                    "165215"
                ],
                "alias_name": [
                    "PR domain 3"
                ],
                "gene_symbol": "MECOM",
                "hgnc_symbol": "MECOM",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:168801287-169381406",
                            "ensembl_id": "ENSG00000085276"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:169083499-169663618",
                            "ensembl_id": "ENSG00000085276"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2009-08-07"
            },
            "entity_type": "gene",
            "entity_name": "MECOM",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "26581901",
                "29540340",
                "29519864"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "G6b",
                    "NG31",
                    "G6b-B"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13937",
                "gene_name": "megakaryocyte and platelet inhibitory receptor G6b",
                "omim_gene": [
                    "606520"
                ],
                "alias_name": null,
                "gene_symbol": "MPIG6B",
                "hgnc_symbol": "MPIG6B",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:31686371-31694491",
                            "ensembl_id": "ENSG00000204420"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:31718594-31726714",
                            "ensembl_id": "ENSG00000204420"
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                    }
                },
                "hgnc_date_symbol_changed": "2017-01-04"
            },
            "entity_type": "gene",
            "entity_name": "MPIG6B",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "29898956",
                "27743390"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "617441 ?Thrombocytopenia, anemia, and myelofibrosis"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "CD110",
                    "TPOR"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7217",
                "gene_name": "MPL proto-oncogene, thrombopoietin receptor",
                "omim_gene": [
                    "159530"
                ],
                "alias_name": null,
                "gene_symbol": "MPL",
                "hgnc_symbol": "MPL",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:43803478-43818443",
                            "ensembl_id": "ENSG00000117400"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:43337849-43352772",
                            "ensembl_id": "ENSG00000117400"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1990-09-10"
            },
            "entity_type": "gene",
            "entity_name": "MPL",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "16470591",
                "11133753",
                "22180433"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "604498 Thrombocytopenia, congenital amegakaryocytic"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "NMMHCA",
                    "NMHC-II-A",
                    "MHA",
                    "FTNS",
                    "EPSTS"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7579",
                "gene_name": "myosin heavy chain 9",
                "omim_gene": [
                    "160775"
                ],
                "alias_name": [
                    "nonmuscle myosin heavy chain II-A"
                ],
                "gene_symbol": "MYH9",
                "hgnc_symbol": "MYH9",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "22:36677327-36784063",
                            "ensembl_id": "ENSG00000100345"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "22:36281281-36388018",
                            "ensembl_id": "ENSG00000100345"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1990-03-12"
            },
            "entity_type": "gene",
            "entity_name": "MYH9",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "28368695",
                "29679756",
                "24186861"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "155100, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss",
                "155100 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "KIAA1544",
                    "BCL8B",
                    "FLJ10197",
                    "LYST2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7648",
                "gene_name": "neurobeachin",
                "omim_gene": [
                    "604889"
                ],
                "alias_name": null,
                "gene_symbol": "NBEA",
                "hgnc_symbol": "NBEA",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "13:35516424-36247159",
                            "ensembl_id": "ENSG00000172915"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "13:34942287-35673022",
                            "ensembl_id": "ENSG00000172915"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-12-16"
            },
            "entity_type": "gene",
            "entity_name": "NBEA",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "28748566"
            ],
            "evidence": [
                "Expert Review Green",
                "North West GLH",
                "London South GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "KIAA0540"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:31928",
                "gene_name": "neurobeachin like 2",
                "omim_gene": [
                    "614169"
                ],
                "alias_name": null,
                "gene_symbol": "NBEAL2",
                "hgnc_symbol": "NBEAL2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:47021173-47051193",
                            "ensembl_id": "ENSG00000160796"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:46979683-47009703",
                            "ensembl_id": "ENSG00000160796"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-03-04"
            },
            "entity_type": "gene",
            "entity_name": "NBEAL2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "21765412",
                "27870194",
                "21765411"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "139090, Gray platelet syndrome",
                "139090 Gray platelet syndrome"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "P2Y12",
                    "SP1999",
                    "HORK3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:18124",
                "gene_name": "purinergic receptor P2Y12",
                "omim_gene": [
                    "600515"
                ],
                "alias_name": null,
                "gene_symbol": "P2RY12",
                "hgnc_symbol": "P2RY12",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:151055168-151102600",
                            "ensembl_id": "ENSG00000169313"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:151337380-151384812",
                            "ensembl_id": "ENSG00000169313"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-12-10"
            },
            "entity_type": "gene",
            "entity_name": "P2RY12",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "11196645",
                "609821",
                "20966167"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "600515.PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12",
                "P2RY12",
                "600515 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "cPLA2-alpha"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9035",
                "gene_name": "phospholipase A2 group IVA",
                "omim_gene": [
                    "600522"
                ],
                "alias_name": null,
                "gene_symbol": "PLA2G4A",
                "hgnc_symbol": "PLA2G4A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:186798085-186958113",
                            "ensembl_id": "ENSG00000116711"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:186828953-186988981",
                            "ensembl_id": "ENSG00000116711"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-11-30"
            },
            "entity_type": "gene",
            "entity_name": "PLA2G4A",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "21247147",
                "18451993",
                "23268370"
            ],
            "evidence": [
                "Expert Review Green",
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "Phospholipase A2, group IV A, deficiency of",
                "(NO OMIM NUMBER)"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "URK",
                    "UPA"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9052",
                "gene_name": "plasminogen activator, urokinase",
                "omim_gene": [
                    "191840"
                ],
                "alias_name": null,
                "gene_symbol": "PLAU",
                "hgnc_symbol": "PLAU",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:75668935-75677255",
                            "ensembl_id": "ENSG00000122861"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:73909177-73917497",
                            "ensembl_id": "ENSG00000122861"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "PLAU",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "28301587",
                "20007542"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "601709 Quebec platelet disorder"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "PKACg"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9382",
                "gene_name": "protein kinase cAMP-activated catalytic subunit gamma",
                "omim_gene": [
                    "176893"
                ],
                "alias_name": null,
                "gene_symbol": "PRKACG",
                "hgnc_symbol": "PRKACG",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:71627469-71629039",
                            "ensembl_id": "ENSG00000165059"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:69012529-69014113",
                            "ensembl_id": "ENSG00000165059"
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                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "PRKACG",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "25061177"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "616176BLEEDING DISORDER, PLATELET-TYPE, 19",
                "616176 BLEEDING DISORDER, PLATELET-TYPE, 19",
                "BDPLT19"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "CALDAG-GEFI"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9879",
                "gene_name": "RAS guanyl releasing protein 2",
                "omim_gene": [
                    "605577"
                ],
                "alias_name": [
                    "calcium- and diacylglycerol-regulated guanine nucleotide exchange factor I"
                ],
                "gene_symbol": "RASGRP2",
                "hgnc_symbol": "RASGRP2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:64494383-64512928",
                            "ensembl_id": "ENSG00000068831"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:64726911-64745456",
                            "ensembl_id": "ENSG00000068831"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-07-21"
            },
            "entity_type": "gene",
            "entity_name": "RASGRP2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "28637664",
                "27235135",
                "28762304"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "615888 ?Bleeding disorder, platelet-type, 18"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "ZNRP",
                    "BOV-1A",
                    "BOV-1B",
                    "BOV-1C",
                    "RBM8B",
                    "Y14"
                ],
                "biotype": null,
                "hgnc_id": "HGNC:9905",
                "gene_name": "RNA binding motif protein 8A",
                "omim_gene": [
                    "605313"
                ],
                "alias_name": null,
                "gene_symbol": "RBM8A",
                "hgnc_symbol": "RBM8A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:145507598-145513536",
                            "ensembl_id": "ENSG00000131795"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:145917714-145927678",
                            "ensembl_id": "ENSG00000265241"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-05-05"
            },
            "entity_type": "gene",
            "entity_name": "RBM8A",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "22366785",
                "24053387"
            ],
            "evidence": [
                "Expert Review Green",
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "274000 Thrombocytopenia-absent radius syndrome"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "PEBP2A2",
                    "AMLCR1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10471",
                "gene_name": "runt related transcription factor 1",
                "omim_gene": [
                    "151385"
                ],
                "alias_name": [
                    "aml1 oncogene"
                ],
                "gene_symbol": "RUNX1",
                "hgnc_symbol": "RUNX1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "21:36160098-37376965",
                            "ensembl_id": "ENSG00000159216"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "21:34787801-36004667",
                            "ensembl_id": "ENSG00000159216"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-08-20"
            },
            "entity_type": "gene",
            "entity_name": "RUNX1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "28240786",
                "24100448",
                "10508512"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "601399 Platelet disorder, familial, with associated myeloid malignancy"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": []
        },
        {
            "gene_data": {
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                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8583",
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                "omim_gene": [
                    "173360"
                ],
                "alias_name": [
                    "plasminogen activator inhibitor, type I"
                ],
                "gene_symbol": "SERPINE1",
                "hgnc_symbol": "SERPINE1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:100770370-100782547",
                            "ensembl_id": "ENSG00000106366"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:101127089-101139266",
                            "ensembl_id": "ENSG00000106366"
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                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "SERPINE1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Wessex and West Midlands GLH",
                "North West GLH",
                "Yorkshire and North East GLH",
                "Expert Review Green",
                "NHS GMS",
                "London South GLH"
            ],
            "phenotypes": [
                "613329 Plasminogen activator inhibitor-1 deficiency"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
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                    "API",
                    "ALPHA-2-PI",
                    "A2AP",
                    "AAP"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9075",
                "gene_name": "serpin family F member 2",
                "omim_gene": [
                    "613168"
                ],
                "alias_name": [
                    "alpha-2-plasmin inhibitor",
                    "alpha-2-antiplasmin"
                ],
                "gene_symbol": "SERPINF2",
                "hgnc_symbol": "SERPINF2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:1646130-1658562",
                            "ensembl_id": "ENSG00000167711"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:1742836-1755268",
                            "ensembl_id": "ENSG00000167711"
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                    }
                },
                "hgnc_date_symbol_changed": "1989-04-14"
            },
            "entity_type": "gene",
            "entity_name": "SERPINF2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "14999928",
                "29656168",
                "17961166"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "262850 Alpha-2-plasmin inhibitor deficiency"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:32689",
                "gene_name": "schlafen family member 14",
                "omim_gene": [
                    "614958"
                ],
                "alias_name": null,
                "gene_symbol": "SLFN14",
                "hgnc_symbol": "SLFN14",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:33875144-33885117",
                            "ensembl_id": "ENSG00000236320"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:35548125-35558098",
                            "ensembl_id": "ENSG00000236320"
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                    }
                },
                "hgnc_date_symbol_changed": "2006-04-05"
            },
            "entity_type": "gene",
            "entity_name": "SLFN14",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "26769223",
                "26280575"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "616913 Bleeding disorder, platelet-type, 20"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "ASV",
                    "c-src"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11283",
                "gene_name": "SRC proto-oncogene, non-receptor tyrosine kinase",
                "omim_gene": [
                    "190090"
                ],
                "alias_name": null,
                "gene_symbol": "SRC",
                "hgnc_symbol": "SRC",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "20:35973088-36034453",
                            "ensembl_id": "ENSG00000197122"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "20:37344685-37406050",
                            "ensembl_id": "ENSG00000197122"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "SRC",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "26936507"
            ],
            "evidence": [
                "Expert Review Green",
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "616937 ?Thrombocytopenia 6"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "GOK",
                    "D11S4896E"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11386",
                "gene_name": "stromal interaction molecule 1",
                "omim_gene": [
                    "605921"
                ],
                "alias_name": null,
                "gene_symbol": "STIM1",
                "hgnc_symbol": "STIM1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:3875757-4114439",
                            "ensembl_id": "ENSG00000167323"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:3854527-4093210",
                            "ensembl_id": "ENSG00000167323"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-02-05"
            },
            "entity_type": "gene",
            "entity_name": "STIM1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "19420366",
                "27876257"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "185070 Stormorken syndrome"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "UNC18B",
                    "Hunc18b"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11445",
                "gene_name": "syntaxin binding protein 2",
                "omim_gene": [
                    "601717"
                ],
                "alias_name": null,
                "gene_symbol": "STXBP2",
                "hgnc_symbol": "STXBP2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:7701767-7712759",
                            "ensembl_id": "ENSG00000076944"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:7636881-7647873",
                            "ensembl_id": "ENSG00000076944"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1996-12-27"
            },
            "entity_type": "gene",
            "entity_name": "STXBP2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "20798128",
                "25564401",
                "19804848"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "613101 Hemophagocytic lymphohistiocytosis, familial, 5"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11608",
                "gene_name": "thromboxane A2 receptor",
                "omim_gene": [
                    "188070"
                ],
                "alias_name": null,
                "gene_symbol": "TBXA2R",
                "hgnc_symbol": "TBXA2R",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:3594504-3606838",
                            "ensembl_id": "ENSG00000006638"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:3594506-3606840",
                            "ensembl_id": "ENSG00000006638"
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                    }
                },
                "hgnc_date_symbol_changed": "1991-08-08"
            },
            "entity_type": "gene",
            "entity_name": "TBXA2R",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "22517902",
                "8972034",
                "24452735",
                "30089223",
                "19828703",
                "8428006"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "614009.BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO",
                "BDPLT13",
                "614009 BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "CYP5",
                    "CYP5A1",
                    "THAS",
                    "TXS",
                    "TXAS",
                    "TS"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11609",
                "gene_name": "thromboxane A synthase 1",
                "omim_gene": [
                    "274180"
                ],
                "alias_name": [
                    "cytochrome P450, family 5, subfamily A, polypeptide 1"
                ],
                "gene_symbol": "TBXAS1",
                "hgnc_symbol": "TBXAS1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:139476850-139720125",
                            "ensembl_id": "ENSG00000059377"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "7:139777051-140020325",
                            "ensembl_id": "ENSG00000059377"
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                    }
                },
                "hgnc_date_symbol_changed": "1992-10-07"
            },
            "entity_type": "gene",
            "entity_name": "TBXAS1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "18264100",
                "28868793"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "231095 Ghosal hematodiaphyseal syndrome",
                "614158 ?Thromboxane synthase deficiency",
                "614158 ?Thromboxane synthase deficiency, 231095 Ghosal hematodiaphyseal syndrome"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "CD141"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11784",
                "gene_name": "thrombomodulin",
                "omim_gene": [
                    "188040"
                ],
                "alias_name": null,
                "gene_symbol": "THBD",
                "hgnc_symbol": "THBD",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "20:23026270-23030378",
                            "ensembl_id": "ENSG00000178726"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "20:23045633-23049741",
                            "ensembl_id": "ENSG00000178726"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "THBD",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "25564403"
            ],
            "evidence": [
                "Expert Review Green",
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "AD bleeding disorder",
                "614486 Thrombophilia due to thrombomodulin defect"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "TPO",
                    "MPLLG"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11795",
                "gene_name": "thrombopoietin",
                "omim_gene": [
                    "600044"
                ],
                "alias_name": [
                    "prepro-thrombopoietin",
                    "megakaryocyte stimulating factor",
                    "myeloproliferative leukemia virus oncogene ligand",
                    "megakaryocyte growth and development factor",
                    "MPL ligand",
                    "megakaryocyte colony-stimulating factor",
                    "c-mpl ligand",
                    "thrombopoietin nirs variant 1"
                ],
                "gene_symbol": "THPO",
                "hgnc_symbol": "THPO",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:184089723-184095932",
                            "ensembl_id": "ENSG00000090534"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:184371935-184378144",
                            "ensembl_id": "ENSG00000090534"
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                    }
                },
                "hgnc_date_symbol_changed": "1994-11-04"
            },
            "entity_type": "gene",
            "entity_name": "THPO",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "28466964",
                "28559357",
                "29191945"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "187950 Thrombocytopenia and thrombocythemia 1"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12013",
                "gene_name": "tropomyosin 4",
                "omim_gene": [
                    "600317"
                ],
                "alias_name": null,
                "gene_symbol": "TPM4",
                "hgnc_symbol": "TPM4",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:16177831-16213813",
                            "ensembl_id": "ENSG00000167460"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "19:16067021-16103005",
                            "ensembl_id": "ENSG00000167460"
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                    }
                },
                "hgnc_date_symbol_changed": "1991-07-18"
            },
            "entity_type": "gene",
            "entity_name": "TPM4",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "27479822",
                "28134622"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
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            "phenotypes": [],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "dJ543J19.4"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:16257",
                "gene_name": "tubulin beta 1 class VI",
                "omim_gene": [
                    "612901"
                ],
                "alias_name": [
                    "class VI beta-tubulin"
                ],
                "gene_symbol": "TUBB1",
                "hgnc_symbol": "TUBB1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "20:57594309-57601709",
                            "ensembl_id": "ENSG00000101162"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "20:59019254-59026654",
                            "ensembl_id": "ENSG00000101162"
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                    }
                },
                "hgnc_date_symbol_changed": "2001-07-17"
            },
            "entity_type": "gene",
            "entity_name": "TUBB1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "27479822",
                "27905099",
                "24344610"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
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            "phenotypes": [
                "613112 Macrothrombocytopenia, autosomal dominant, TUBB1-related"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "VIPAR",
                    "VPS16B",
                    "SPE-39",
                    "SPE39",
                    "hSPE-39"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:20347",
                "gene_name": "VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog",
                "omim_gene": [
                    "613401"
                ],
                "alias_name": [
                    "VPS33B interacting protein, apical-basolateral polarity regulator"
                ],
                "gene_symbol": "VIPAS39",
                "hgnc_symbol": "VIPAS39",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:77893018-77924295",
                            "ensembl_id": "ENSG00000151445"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "14:77426675-77457952",
                            "ensembl_id": "ENSG00000151445"
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                    }
                },
                "hgnc_date_symbol_changed": "2012-07-24"
            },
            "entity_type": "gene",
            "entity_name": "VIPAS39",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "22753090",
                "28039895",
                "20190753"
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            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
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            "phenotypes": [
                "613404 Arthrogryposis, renal dysfunction, and cholestasis 2"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:23663",
                "gene_name": "vitamin K epoxide reductase complex subunit 1",
                "omim_gene": [
                    "608547"
                ],
                "alias_name": null,
                "gene_symbol": "VKORC1",
                "hgnc_symbol": "VKORC1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:31102163-31107301",
                            "ensembl_id": "ENSG00000167397"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "16:31090842-31095980",
                            "ensembl_id": "ENSG00000167397"
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                "14765194",
                "20946155"
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                "122700 Warfarin resistance"
            ],
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        },
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                            "ensembl_id": "ENSG00000184056"
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                "Wessex and West Midlands GLH"
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            "phenotypes": [
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            "tags": []
        },
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                "613554 von Willebrand disease, types 2A, 2B, 2M, and 2N",
                "277480 von Willibrand disease, type 3",
                "193400 von Willebrand disease, type 1"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
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        },
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                "omim_gene": [
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                "hgnc_symbol": "WAS",
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                "ensembl_genes": {
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                            "location": "X:48534985-48549818",
                            "ensembl_id": "ENSG00000015285"
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                    },
                    "GRch38": {
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                            "ensembl_id": "ENSG00000015285"
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            "entity_type": "gene",
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                "17400488"
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                "Yorkshire and North East GLH",
                "London South GLH",
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                "301000 Wiskott-Aldrich syndrome"
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            "tags": []
        },
        {
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                    "D4ST-1"
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                "hgnc_id": "HGNC:24464",
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                "omim_gene": [
                    "608429"
                ],
                "alias_name": null,
                "gene_symbol": "CHST14",
                "hgnc_symbol": "CHST14",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "15:40763160-40765353",
                            "ensembl_id": "ENSG00000169105"
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                    },
                    "GRch38": {
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                            "location": "15:40470998-40474571",
                            "ensembl_id": "ENSG00000169105"
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                },
                "hgnc_date_symbol_changed": "2007-03-27"
            },
            "entity_type": "gene",
            "entity_name": "CHST14",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
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                "26373698",
                "25703627"
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            "evidence": [
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                "NHS GMS",
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            "phenotypes": [
                "601776 Ehlers-Danlos syndrome, musculocontractural type 1"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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        },
        {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2197",
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                "omim_gene": [
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                "alias_name": null,
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                "hgnc_symbol": "COL1A1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                        "82": {
                            "location": "17:48260650-48278993",
                            "ensembl_id": "ENSG00000108821"
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                    },
                    "GRch38": {
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                            "location": "17:50183289-50201632",
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                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "COL1A1",
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            "mode_of_pathogenicity": "",
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                "130060 Ehlers-Danlos syndrome, arthrochalasia type, 1"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
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        },
        {
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                "hgnc_id": "HGNC:2201",
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                "omim_gene": [
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                ],
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                "gene_symbol": "COL3A1",
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                "ensembl_genes": {
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                            "location": "2:189839046-189877472",
                            "ensembl_id": "ENSG00000168542"
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                    },
                    "GRch38": {
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                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "COL3A1",
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            "penetrance": null,
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
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        },
        {
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                "hgnc_symbol": "COL5A1",
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                "ensembl_genes": {
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                            "location": "9:137533620-137736686",
                            "ensembl_id": "ENSG00000130635"
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                    },
                    "GRch38": {
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                },
                "hgnc_date_symbol_changed": "1992-02-26"
            },
            "entity_type": "gene",
            "entity_name": "COL5A1",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
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                "22696272",
                "28485813",
                "23587214"
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                "NHS GMS",
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            "phenotypes": [
                "130000 Ehlers-Danlos syndrome, classic type, 1"
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        },
        {
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                "gene_symbol": "COL5A2",
                "hgnc_symbol": "COL5A2",
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                    },
                    "GRch38": {
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                    }
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            "entity_name": "COL5A2",
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                ":28485813",
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            "phenotypes": [
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        },
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                "alias_name": null,
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                "hgnc_symbol": "EPHB2",
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            "entity_name": "EPHB2",
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            "penetrance": null,
            "mode_of_pathogenicity": "",
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                "North West GLH",
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                "NHS GMS",
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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        },
        {
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            "entity_type": "gene",
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            "mode_of_pathogenicity": "",
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                "Expert Review Amber",
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                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
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            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
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        },
        {
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                "alias_name": [
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                "hgnc_symbol": "FLNA",
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                "ensembl_genes": {
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            "entity_type": "gene",
            "entity_name": "FLNA",
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            "penetrance": null,
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                "London South GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
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            "phenotypes": [
                "(NO OMIM NUMBER)",
                "Macrothrombocytopenia"
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            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
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        },
        {
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                "alias_name": [
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                "ensembl_genes": {
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                            "ensembl_id": "ENSG00000117308"
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                    },
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                },
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            "entity_type": "gene",
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            "mode_of_pathogenicity": "",
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            ],
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                "NHS GMS",
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            "entity_type": "gene",
            "entity_name": "MKL1",
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            "mode_of_pathogenicity": "",
            "publications": [
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            ],
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                "NHS GMS",
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        },
        {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8533",
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                "hgnc_symbol": "P2RX1",
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            "entity_type": "gene",
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                "NHS GMS",
                "Wessex and West Midlands GLH"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
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        },
        {
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                "omim_gene": [
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                ],
                "alias_name": [
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                "gene_symbol": "PTGS1",
                "hgnc_symbol": "PTGS1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:125132824-125157982",
                            "ensembl_id": "ENSG00000095303"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:122370530-122395703",
                            "ensembl_id": "ENSG00000095303"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-10-27"
            },
            "entity_type": "gene",
            "entity_name": "PTGS1",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "11442478",
                "27629384",
                "8562397",
                "28748566",
                "6103258"
            ],
            "evidence": [
                "Expert Review Amber",
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "BDPLT12",
                "605735 BLEEDING DISORDER, PLATELET-TYPE, 12"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        },
        {
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                    "SH-PTP2",
                    "SHP-2",
                    "PTP2C",
                    "SHP2"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9644",
                "gene_name": "protein tyrosine phosphatase, non-receptor type 11",
                "omim_gene": [
                    "176876"
                ],
                "alias_name": null,
                "gene_symbol": "PTPN11",
                "hgnc_symbol": "PTPN11",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:112856155-112947717",
                            "ensembl_id": "ENSG00000179295"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "12:112418351-112509913",
                            "ensembl_id": "ENSG00000179295"
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                    }
                },
                "hgnc_date_symbol_changed": "1993-03-03"
            },
            "entity_type": "gene",
            "entity_name": "PTPN11",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "none submitted"
            ],
            "evidence": [
                "Expert Review Amber",
                "North West GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "163950 Noonan syndrome 1"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": []
        },
        {
            "gene_data": {
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                    "HPTPeta",
                    "CD148"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9673",
                "gene_name": "protein tyrosine phosphatase, receptor type J",
                "omim_gene": [
                    "600925"
                ],
                "alias_name": null,
                "gene_symbol": "PTPRJ",
                "hgnc_symbol": "PTPRJ",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:48002113-48189670",
                            "ensembl_id": "ENSG00000149177"
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                    },
                    "GRch38": {
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                            "location": "11:47980558-48170841",
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                    }
                },
                "hgnc_date_symbol_changed": "1994-09-14"
            },
            "entity_type": "gene",
            "entity_name": "PTPRJ",
            "confidence_level": "2",
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            "mode_of_pathogenicity": "",
            "publications": [
                "30591527"
            ],
            "evidence": [
                "Expert Review Amber",
                "North West GLH",
                "London South GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9998",
                "gene_name": "regulator of G protein signaling 2",
                "omim_gene": [
                    "600861"
                ],
                "alias_name": null,
                "gene_symbol": "RGS2",
                "hgnc_symbol": "RGS2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:192778169-192781403",
                            "ensembl_id": "ENSG00000116741"
                        }
                    },
                    "GRch38": {
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                            "location": "1:192809039-192812283",
                            "ensembl_id": "ENSG00000116741"
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                    }
                },
                "hgnc_date_symbol_changed": "1994-11-01"
            },
            "entity_type": "gene",
            "entity_name": "RGS2",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "20403096",
                "28784619"
            ],
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                "Expert Review Amber",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
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                    "RNU4ATAC1"
                ],
                "biotype": "snRNA",
                "hgnc_id": "HGNC:34016",
                "gene_name": "RNA, U4atac small nuclear (U12-dependent splicing)",
                "omim_gene": [
                    "601428"
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                "alias_name": null,
                "gene_symbol": "RNU4ATAC",
                "hgnc_symbol": "RNU4ATAC",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:122288457-122288583",
                            "ensembl_id": "ENSG00000264229"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:121530881-121531007",
                            "ensembl_id": "ENSG00000264229"
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                    }
                },
                "hgnc_date_symbol_changed": "2008-03-12"
            },
            "entity_type": "gene",
            "entity_name": "RNU4ATAC",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "none submitted"
            ],
            "evidence": [
                "Expert Review Amber",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "Microcephalic osteodysplastic primordial dwarfism, type I / Roifman syndrome"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
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                    "OCA4"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:16472",
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                "omim_gene": [
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                ],
                "alias_name": null,
                "gene_symbol": "SLC45A2",
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                "ensembl_genes": {
                    "GRch37": {
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                            "location": "5:33944721-33984835",
                            "ensembl_id": "ENSG00000164175"
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                    },
                    "GRch38": {
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                },
                "hgnc_date_symbol_changed": "2005-10-06"
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            "entity_type": "gene",
            "entity_name": "SLC45A2",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "none submitted"
            ],
            "evidence": [
                "Expert Review Amber",
                "North West GLH",
                "London South GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "606574 Albinism, oculocutaneous, type IV"
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        },
        {
            "gene_data": {
                "alias": [
                    "DPC4"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6770",
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                "omim_gene": [
                    "600993"
                ],
                "alias_name": null,
                "gene_symbol": "SMAD4",
                "hgnc_symbol": "SMAD4",
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                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "18:48494410-48611415",
                            "ensembl_id": "ENSG00000141646"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "18:51028394-51085045",
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                    }
                },
                "hgnc_date_symbol_changed": "2004-05-26"
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            "entity_type": "gene",
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            "penetrance": null,
            "mode_of_pathogenicity": "",
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                "25269631",
                "24001356",
                "30251589",
                "16613914"
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                "Expert Review Amber",
                "NHS GMS",
                "Wessex and West Midlands GLH"
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            "phenotypes": [
                "hereditary hemorrhagic telangiectasia syndrome"
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            "tags": []
        },
        {
            "gene_data": {
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                    "XBS",
                    "XB"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11976",
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                "omim_gene": [
                    "600985"
                ],
                "alias_name": null,
                "gene_symbol": "TNXB",
                "hgnc_symbol": "TNXB",
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                "ensembl_genes": {
                    "GRch37": {
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                            "location": "6:32008931-32083111",
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                    },
                    "GRch38": {
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                            "location": "6:32041154-32115334",
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            "entity_type": "gene",
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            "confidence_level": "2",
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            "mode_of_pathogenicity": null,
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                "28306229",
                "28306225",
                "11642233",
                "15733269",
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                "Expert Review Amber",
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            "phenotypes": [
                "Ehlers-Danlos syndrome due to tenascin X deficiency, 606408",
                "significant bruising/haematomas"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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        },
        {
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                "omim_gene": [
                    "605692"
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                "alias_name": null,
                "gene_symbol": "TRPM7",
                "hgnc_symbol": "TRPM7",
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                            "location": "15:50844670-50979012",
                            "ensembl_id": "ENSG00000092439"
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                    },
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                "hgnc_date_symbol_changed": "2002-01-11"
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            "entity_type": "gene",
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            ],
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        },
        {
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                "omim_gene": [
                    "608897"
                ],
                "alias_name": null,
                "gene_symbol": "UNC13D",
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                            "location": "17:73823306-73840798",
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                    },
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                "hgnc_date_symbol_changed": "2003-10-16"
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            "entity_type": "gene",
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                "28399723",
                "28748566"
            ],
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                "Expert Review Amber",
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                "Wessex and West Midlands GLH"
            ],
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        },
        {
            "gene_data": {
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                "hgnc_id": "HGNC:6137",
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                "omim_gene": [
                    "192974"
                ],
                "alias_name": [
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                ],
                "gene_symbol": "ITGA2",
                "hgnc_symbol": "ITGA2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:52285156-52390609",
                            "ensembl_id": "ENSG00000164171"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "5:52989326-53094779",
                            "ensembl_id": "ENSG00000164171"
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                    }
                },
                "hgnc_date_symbol_changed": "1991-08-06"
            },
            "entity_type": "gene",
            "entity_name": "ITGA2",
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            "mode_of_pathogenicity": "",
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                "10590055"
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                "Expert Review Red",
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "614200 ?Glycoprotein Ia deficiency"
            ],
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            "tags": []
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11429",
                "gene_name": "syntaxin 11",
                "omim_gene": [
                    "605014"
                ],
                "alias_name": null,
                "gene_symbol": "STX11",
                "hgnc_symbol": "STX11",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "6:144471663-144509507",
                            "ensembl_id": "ENSG00000135604"
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                    },
                    "GRch38": {
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                            "location": "6:144150526-144188370",
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            "entity_type": "gene",
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                "North West GLH",
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        }
    ],
    "strs": [],
    "regions": []
}