GET /api/v1/panels/147/
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{
    "id": 147,
    "hash_id": "5819a24f8f6203341de99c89",
    "name": "Cerebral vascular malformations",
    "disease_group": "Neurology and neurodevelopmental disorders",
    "disease_sub_group": "Cerebrovascular disorders",
    "status": "public",
    "version": "2.4",
    "version_created": "2020-03-04T13:58:44.859094Z",
    "relevant_disorders": [
        "Cerebrovascular disorders",
        "Vein of Galen malformation",
        "Cerebral arteriovenous malformations",
        "Moyamoya disease",
        "R336"
    ],
    "stats": {
        "number_of_genes": 100,
        "number_of_strs": 0,
        "number_of_regions": 0
    },
    "types": [
        {
            "name": "Rare Disease 100K",
            "slug": "rare-disease-100k",
            "description": "Rare Disease 100K"
        },
        {
            "name": "GMS Rare Disease Virtual",
            "slug": "gms-rare-disease-virtual",
            "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
        },
        {
            "name": "GMS signed-off",
            "slug": "gms-signed-off",
            "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
        }
    ],
    "genes": [
        {
            "gene_data": {
                "alias": [
                    "ACTSA"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:130",
                "gene_name": "actin, alpha 2, smooth muscle, aorta",
                "omim_gene": [
                    "102620"
                ],
                "alias_name": null,
                "gene_symbol": "ACTA2",
                "hgnc_symbol": "ACTA2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:90694831-90751147",
                            "ensembl_id": "ENSG00000107796"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:88935074-88991339",
                            "ensembl_id": "ENSG00000107796"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1989-12-07"
            },
            "entity_type": "gene",
            "entity_name": "ACTA2",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services",
                "Other"
            ],
            "phenotypes": [
                "Moyamoya disease 5",
                "Moyamoya Disease",
                "Moyamoya disease 5,614042",
                "Aortic aneurysm familial thoracic 6,611788",
                "Multisystemic smooth muscle dysfunction syndrome,613834"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
            "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": "2017-11-03T00:00:00",
                "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": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Green",
                "Emory Genetics Laboratory",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN"
            ],
            "phenotypes": [
                "Telangiectasia, hereditary hemorrhagic, type 2  600376"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "MGC4607",
                    "OSM"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21708",
                "gene_name": "CCM2 scaffolding protein",
                "omim_gene": [
                    "607929"
                ],
                "alias_name": [
                    "malcavernin",
                    "osmosensing scaffold for MEKK3"
                ],
                "gene_symbol": "CCM2",
                "hgnc_symbol": "CCM2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:45039074-45116068",
                            "ensembl_id": "ENSG00000136280"
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                    },
                    "GRch38": {
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                            "location": "7:44999475-45076469",
                            "ensembl_id": "ENSG00000136280"
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                    }
                },
                "hgnc_date_symbol_changed": "2004-02-18"
            },
            "entity_type": "gene",
            "entity_name": "CCM2",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "20301470",
                "14624391"
            ],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Green",
                "UKGTN",
                "Emory Genetics Laboratory"
            ],
            "phenotypes": [
                "Cerebral Cavernous Malformation",
                "Cerebral cavernous malformations 2",
                "Cerebral Cavernous Malformations",
                "Capillary malformation-arteriovenous malformation 608354"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2201",
                "gene_name": "collagen type III alpha 1 chain",
                "omim_gene": [
                    "120180"
                ],
                "alias_name": null,
                "gene_symbol": "COL3A1",
                "hgnc_symbol": "COL3A1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:189839046-189877472",
                            "ensembl_id": "ENSG00000168542"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "2:188974320-189012746",
                            "ensembl_id": "ENSG00000168542"
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                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "COL3A1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Green",
                "UKGTN"
            ],
            "phenotypes": [
                "Ehlers-Danlos syndrome, type IV  130050"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "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": "2017-11-03T00:00:00",
                "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": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "20301525",
                "15024723"
            ],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services",
                "Other"
            ],
            "phenotypes": [
                "Telangiectasia, hereditary hemorrhagic, type 1 187300"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "GC-SA3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4685",
                "gene_name": "guanylate cyclase 1 soluble subunit alpha",
                "omim_gene": [
                    "139396"
                ],
                "alias_name": null,
                "gene_symbol": "GUCY1A3",
                "hgnc_symbol": "GUCY1A3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:156587863-156653501",
                            "ensembl_id": "ENSG00000164116"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:155666711-155732349",
                            "ensembl_id": "ENSG00000164116"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-11-09"
            },
            "entity_type": "gene",
            "entity_name": "GUCY1A3",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "24581742",
                "26777256"
            ],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "Expert list",
                "Other"
            ],
            "phenotypes": [
                "Moyamoya 6 with achalasia",
                "Moyamoya 6 with achalasia, 615750"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "new-gene-name"
            ],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CAM"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1573",
                "gene_name": "KRIT1, ankyrin repeat containing",
                "omim_gene": [
                    "604214"
                ],
                "alias_name": null,
                "gene_symbol": "KRIT1",
                "hgnc_symbol": "KRIT1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:91828283-91875480",
                            "ensembl_id": "ENSG00000001631"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:92198969-92246166",
                            "ensembl_id": "ENSG00000001631"
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                    }
                },
                "hgnc_date_symbol_changed": "2005-03-17"
            },
            "entity_type": "gene",
            "entity_name": "KRIT1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "10508515",
                "20301470"
            ],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Green",
                "Illumina TruGenome Clinical Sequencing Services",
                "UKGTN",
                "Emory Genetics Laboratory",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Cerebral cavernous malformations-1, 116860",
                "Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860",
                "Cerebral Cavernous Malformation",
                "Cerebral cavernous malformations 1",
                "Cerebral Cavernous Malformations",
                "Familial Cerebral Cavernous Malformation",
                "Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "TFAR15"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8761",
                "gene_name": "programmed cell death 10",
                "omim_gene": [
                    "609118"
                ],
                "alias_name": null,
                "gene_symbol": "PDCD10",
                "hgnc_symbol": "PDCD10",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:167401086-167452727",
                            "ensembl_id": "ENSG00000114209"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "3:167683298-167734939",
                            "ensembl_id": "ENSG00000114209"
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                    }
                },
                "hgnc_date_symbol_changed": "1999-12-10"
            },
            "entity_type": "gene",
            "entity_name": "PDCD10",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
            "publications": [
                "20301470",
                "15543491"
            ],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Green",
                "Illumina TruGenome Clinical Sequencing Services",
                "UKGTN",
                "Emory Genetics Laboratory",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Cerebral cavernous malformations 3, 603285",
                "Cerebral Cavernous Malformation",
                "Cerebral cavernous malformations 3",
                "Cerebral Cavernous Malformations",
                "Familial Cerebral Cavernous Malformation"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "GAP",
                    "CM-AVM",
                    "p120GAP",
                    "p120RASGAP",
                    "p120"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9871",
                "gene_name": "RAS p21 protein activator 1",
                "omim_gene": [
                    "139150"
                ],
                "alias_name": [
                    "capillary malformation-arteriovenous malformation",
                    "p120 RAS GTPase activating protein"
                ],
                "gene_symbol": "RASA1",
                "hgnc_symbol": "RASA1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:86563705-86687748",
                            "ensembl_id": "ENSG00000145715"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "5:87267888-87391931",
                            "ensembl_id": "ENSG00000145715"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1989-06-30"
            },
            "entity_type": "gene",
            "entity_name": "RASA1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "14639529"
            ],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Green",
                "Other",
                "Illumina TruGenome Clinical Sequencing Services",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Capillary malformation-arteriovenous malformation, 608354",
                "Parkes Weber syndrome, 608355",
                "Parkes Weber syndrome (PKWS)",
                "Capillary Malformation-Arteriovenous Malformation Syndrome",
                "Parkes Weber Syndrome",
                "Parkes Weber syndrome"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "KIAA1554",
                    "NET57"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14539",
                "gene_name": "ring finger protein 213",
                "omim_gene": [
                    "613768"
                ],
                "alias_name": null,
                "gene_symbol": "RNF213",
                "hgnc_symbol": "RNF213",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:78234665-78372586",
                            "ensembl_id": "ENSG00000173821"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:80260866-80398786",
                            "ensembl_id": "ENSG00000173821"
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                    }
                },
                "hgnc_date_symbol_changed": "2007-02-08"
            },
            "entity_type": "gene",
            "entity_name": "RNF213",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "21048783"
            ],
            "evidence": [
                "Expert Review Green",
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert list",
                "Other"
            ],
            "phenotypes": [
                "{Moyamoya disease 2, susceptibility to}"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "SBBI88",
                    "Mg11",
                    "HDDC1",
                    "MOP-5",
                    "AGS5"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:15925",
                "gene_name": "SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1",
                "omim_gene": [
                    "606754"
                ],
                "alias_name": [
                    "HD domain containing 1",
                    "monocyte protein 5",
                    "Aicardi-Goutieres syndrome 5"
                ],
                "gene_symbol": "SAMHD1",
                "hgnc_symbol": "SAMHD1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "20:35518632-35580246",
                            "ensembl_id": "ENSG00000101347"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "20:36890229-36951843",
                            "ensembl_id": "ENSG00000101347"
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                    }
                },
                "hgnc_date_symbol_changed": "2001-07-31"
            },
            "entity_type": "gene",
            "entity_name": "SAMHD1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "21402907",
                "20653736"
            ],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Moyamoya disease"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "GLUT10"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13444",
                "gene_name": "solute carrier family 2 member 10",
                "omim_gene": [
                    "606145"
                ],
                "alias_name": null,
                "gene_symbol": "SLC2A10",
                "hgnc_symbol": "SLC2A10",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "20:45338126-45364965",
                            "ensembl_id": "ENSG00000197496"
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                    },
                    "GRch38": {
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                            "location": "20:46709487-46736347",
                            "ensembl_id": "ENSG00000197496"
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                    }
                },
                "hgnc_date_symbol_changed": "2001-04-02"
            },
            "entity_type": "gene",
            "entity_name": "SLC2A10",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "16550171"
            ],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Arterial tortuosity syndrome",
                "Moyamoya disease",
                "208050"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "DPC4"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6770",
                "gene_name": "SMAD family member 4",
                "omim_gene": [
                    "600993"
                ],
                "alias_name": null,
                "gene_symbol": "SMAD4",
                "hgnc_symbol": "SMAD4",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "18:48494410-48611415",
                            "ensembl_id": "ENSG00000141646"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "18:51028394-51085045",
                            "ensembl_id": "ENSG00000141646"
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                    }
                },
                "hgnc_date_symbol_changed": "2004-05-26"
            },
            "entity_type": "gene",
            "entity_name": "SMAD4",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory"
            ],
            "phenotypes": [
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                "Alagille syndrome 1, 118450"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FLK1",
                    "VEGFR",
                    "VEGFR2",
                    "CD309"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6307",
                "gene_name": "kinase insert domain receptor",
                "omim_gene": [
                    "191306"
                ],
                "alias_name": [
                    "vascular endothelial growth factor receptor 2",
                    "fetal liver kinase 1"
                ],
                "gene_symbol": "KDR",
                "hgnc_symbol": "KDR",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:55944644-55991756",
                            "ensembl_id": "ENSG00000128052"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:55078477-55125589",
                            "ensembl_id": "ENSG00000128052"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-07-10"
            },
            "entity_type": "gene",
            "entity_name": "KDR",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Red",
                "Other",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Hemangioma, capillary infantile, somatic, 602089",
                "{Hemangioma, capillary infantile, susceptibility to}, 602089",
                "{Hemangioma, capillary infantile, susceptibility to}",
                "Hemangioma, capillary infantile, somatic",
                "Hemangioma, capillary infantile, somatic, 602089"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6486",
                "gene_name": "laminin subunit beta 1",
                "omim_gene": [
                    "150240"
                ],
                "alias_name": null,
                "gene_symbol": "LAMB1",
                "hgnc_symbol": "LAMB1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:107564244-107643700",
                            "ensembl_id": "ENSG00000091136"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:107923799-108003255",
                            "ensembl_id": "ENSG00000091136"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "LAMB1",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Red",
                "UKGTN"
            ],
            "phenotypes": [
                "Cerebral Malformation Disorders"
            ],
            "mode_of_inheritance": "",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "DKFZp434E202"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6494",
                "gene_name": "laminin subunit gamma 3",
                "omim_gene": [
                    "604349"
                ],
                "alias_name": null,
                "gene_symbol": "LAMC3",
                "hgnc_symbol": "LAMC3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:133884469-133969860",
                            "ensembl_id": "ENSG00000050555"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:131009082-131094473",
                            "ensembl_id": "ENSG00000050555"
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                    }
                },
                "hgnc_date_symbol_changed": "1999-07-23"
            },
            "entity_type": "gene",
            "entity_name": "LAMC3",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Red",
                "UKGTN"
            ],
            "phenotypes": [
                "Cerebral Malformation Disorders"
            ],
            "mode_of_inheritance": "",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "KIAA0609"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6511",
                "gene_name": "LARGE xylosyl- and glucuronyltransferase 1",
                "omim_gene": [
                    "603590"
                ],
                "alias_name": [
                    "like-acetylglucosaminyltransferase"
                ],
                "gene_symbol": "LARGE1",
                "hgnc_symbol": "LARGE1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "22:33558212-34318829",
                            "ensembl_id": "ENSG00000133424"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "22:33162226-33922841",
                            "ensembl_id": "ENSG00000133424"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2016-05-31"
            },
            "entity_type": "gene",
            "entity_name": "LARGE1",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Red",
                "UKGTN"
            ],
            "phenotypes": [
                "Cerebral Malformation Disorders"
            ],
            "mode_of_inheritance": "",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6996",
                "gene_name": "myocyte enhancer factor 2C",
                "omim_gene": [
                    "600662"
                ],
                "alias_name": null,
                "gene_symbol": "MEF2C",
                "hgnc_symbol": "MEF2C",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:88013975-88199922",
                            "ensembl_id": "ENSG00000081189"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:88717117-88904257",
                            "ensembl_id": "ENSG00000081189"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-02-08"
            },
            "entity_type": "gene",
            "entity_name": "MEF2C",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Red",
                "Illumina TruGenome Clinical Sequencing Services",
                "Emory Genetics Laboratory",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443",
                "Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations",
                "Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "nudE",
                    "FLJ20101",
                    "NDE"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17619",
                "gene_name": "nudE neurodevelopment protein 1",
                "omim_gene": [
                    "609449"
                ],
                "alias_name": null,
                "gene_symbol": "NDE1",
                "hgnc_symbol": "NDE1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:15737124-15820210",
                            "ensembl_id": "ENSG00000072864"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "16:15643267-15726353",
                            "ensembl_id": "ENSG00000072864"
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                    }
                },
                "hgnc_date_symbol_changed": "2003-04-10"
            },
            "entity_type": "gene",
            "entity_name": "NDE1",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Red",
                "UKGTN"
            ],
            "phenotypes": [
                "Cerebral Malformation Disorders"
            ],
            "mode_of_inheritance": "",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14906",
                "gene_name": "ninein",
                "omim_gene": [
                    "608684"
                ],
                "alias_name": null,
                "gene_symbol": "NIN",
                "hgnc_symbol": "NIN",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:51186481-51297839",
                            "ensembl_id": "ENSG00000100503"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "14:50719763-50831121",
                            "ensembl_id": "ENSG00000100503"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-03-15"
            },
            "entity_type": "gene",
            "entity_name": "NIN",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "22933543"
            ],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Red",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Seckel syndrome 7  614851"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CASIL"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7883",
                "gene_name": "notch 3",
                "omim_gene": [
                    "600276"
                ],
                "alias_name": null,
                "gene_symbol": "NOTCH3",
                "hgnc_symbol": "NOTCH3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "19:15270444-15311792",
                            "ensembl_id": "ENSG00000074181"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:15159038-15200981",
                            "ensembl_id": "ENSG00000074181"
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                    }
                },
                "hgnc_date_symbol_changed": "1994-07-04"
            },
            "entity_type": "gene",
            "entity_name": "NOTCH3",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "Other - please provide details in the comments",
            "publications": [
                "8878478",
                "20301673"
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            "evidence": [
                "Expert Review Red",
                "Yorkshire and North East GLH",
                "NHS GMS",
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            "phenotypes": [
                "Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy",
                "Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)",
                "Moyamoya disease",
                "Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310",
                "Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy (CADASIL)"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "PPP1R115"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8104",
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                "omim_gene": [
                    "602876"
                ],
                "alias_name": [
                    "tight junction protein occludin TM4 minus",
                    "phosphatase 1, regulatory subunit 115"
                ],
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                "hgnc_symbol": "OCLN",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "5:68788119-68853931",
                            "ensembl_id": "ENSG00000197822"
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                    },
                    "GRch38": {
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                            "location": "5:69492292-69558104",
                            "ensembl_id": "ENSG00000197822"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-01-20"
            },
            "entity_type": "gene",
            "entity_name": "OCLN",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Red",
                "UKGTN"
            ],
            "phenotypes": [
                "Cerebral Malformation Disorders"
            ],
            "mode_of_inheritance": "",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "OPN1",
                    "ARHGAP41"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8148",
                "gene_name": "oligophrenin 1",
                "omim_gene": [
                    "300127"
                ],
                "alias_name": null,
                "gene_symbol": "OPHN1",
                "hgnc_symbol": "OPHN1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:67262186-67653755",
                            "ensembl_id": "ENSG00000079482"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:68042344-68433913",
                            "ensembl_id": "ENSG00000079482"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-05-12"
            },
            "entity_type": "gene",
            "entity_name": "OPHN1",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Red",
                "UKGTN"
            ],
            "phenotypes": [
                "Cerebral Malformation Disorders"
            ],
            "mode_of_inheritance": "",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "LIS1",
                    "PAFAH",
                    "NudF"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8574",
                "gene_name": "platelet activating factor acetylhydrolase 1b regulatory subunit 1",
                "omim_gene": [
                    "601545"
                ],
                "alias_name": [
                    "lissencephaly-1"
                ],
                "gene_symbol": "PAFAH1B1",
                "hgnc_symbol": "PAFAH1B1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "17:2496504-2588909",
                            "ensembl_id": "ENSG00000007168"
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                    },
                    "GRch38": {
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                            "location": "17:2593210-2685615",
                            "ensembl_id": "ENSG00000007168"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-04-03"
            },
            "entity_type": "gene",
            "entity_name": "PAFAH1B1",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Red",
                "UKGTN"
            ],
            "phenotypes": [
                "Cerebral Malformation Disorders"
            ],
            "mode_of_inheritance": "",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "PI3K"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8975",
                "gene_name": "phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",
                "omim_gene": [
                    "171834"
                ],
                "alias_name": null,
                "gene_symbol": "PIK3CA",
                "hgnc_symbol": "PIK3CA",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:178865902-178957881",
                            "ensembl_id": "ENSG00000121879"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:179148114-179240093",
                            "ensembl_id": "ENSG00000121879"
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                    }
                },
                "hgnc_date_symbol_changed": "1994-07-15"
            },
            "entity_type": "gene",
            "entity_name": "PIK3CA",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Red",
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                "UKGTN",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501",
                "Cerebral Malformation Disorders",
                "Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome",
                "Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi",
                "Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic"
            ],
            "mode_of_inheritance": "",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "P85B",
                    "p85"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8980",
                "gene_name": "phosphoinositide-3-kinase regulatory subunit 2",
                "omim_gene": [
                    "603157"
                ],
                "alias_name": [
                    "phosphoinositide-3-kinase regulatory subunit beta"
                ],
                "gene_symbol": "PIK3R2",
                "hgnc_symbol": "PIK3R2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:18263928-18281350",
                            "ensembl_id": "ENSG00000105647"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "19:18153118-18170540",
                            "ensembl_id": "ENSG00000105647"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-12-08"
            },
            "entity_type": "gene",
            "entity_name": "PIK3R2",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Red",
                "UKGTN"
            ],
            "phenotypes": [
                "Cerebral Malformation Disorders"
            ],
            "mode_of_inheritance": "",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ20277",
                    "MGAT1.2",
                    "LGMD2O"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:19139",
                "gene_name": "protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)",
                "omim_gene": [
                    "606822"
                ],
                "alias_name": [
                    "protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"
                ],
                "gene_symbol": "POMGNT1",
                "hgnc_symbol": "POMGNT1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "1:46654354-46685977",
                            "ensembl_id": "ENSG00000085998"
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                    },
                    "GRch38": {
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                            "location": "1:46188682-46220305",
                            "ensembl_id": "ENSG00000085998"
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                    }
                },
                "hgnc_date_symbol_changed": "2005-06-02"
            },
            "entity_type": "gene",
            "entity_name": "POMGNT1",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Red",
                "UKGTN"
            ],
            "phenotypes": [
                "Cerebral Malformation Disorders"
            ],
            "mode_of_inheritance": "",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "LGMD2K"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9202",
                "gene_name": "protein O-mannosyltransferase 1",
                "omim_gene": [
                    "607423"
                ],
                "alias_name": [
                    "dolichyl-phosphate-mannose-protein mannosyltransferase"
                ],
                "gene_symbol": "POMT1",
                "hgnc_symbol": "POMT1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "9:134378289-134399193",
                            "ensembl_id": "ENSG00000130714"
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                    },
                    "GRch38": {
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                            "location": "9:131502902-131523806",
                            "ensembl_id": "ENSG00000130714"
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                    }
                },
                "hgnc_date_symbol_changed": "1999-06-25"
            },
            "entity_type": "gene",
            "entity_name": "POMT1",
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