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{
    "id": 147,
    "name": "Cerebral vascular malformations",
    "strs": [],
    "genes": [
        {
            "tags": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services",
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                    "ACTSA"
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                "hgnc_id": "HGNC:130",
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                "omim_gene": [
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                "Moyamoya disease 5",
                "Moyamoya Disease",
                "Moyamoya disease 5,614042",
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            "tags": [],
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                "NHS GMS",
                "Expert Review Green",
                "Emory Genetics Laboratory",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN"
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            "gene_data": {
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                    "ALK1",
                    "HHT"
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                "alias_name": null,
                "gene_symbol": "ACVRL1",
                "hgnc_symbol": "ACVRL1",
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            },
            "penetrance": "Complete",
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                "Telangiectasia, hereditary hemorrhagic, type 2  600376"
            ],
            "transcript": null,
            "entity_name": "ACVRL1",
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
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        },
        {
            "tags": [],
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                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Green",
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                "Emory Genetics Laboratory"
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            "gene_data": {
                "alias": [
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                "hgnc_id": "HGNC:21708",
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                "ensembl_genes": {
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                "hgnc_date_symbol_changed": "2004-02-18"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Cerebral Cavernous Malformation",
                "Cerebral cavernous malformations 2",
                "Cerebral Cavernous Malformations",
                "Capillary malformation-arteriovenous malformation 608354"
            ],
            "transcript": null,
            "entity_name": "CCM2",
            "entity_type": "gene",
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                "14624391"
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            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Green",
                "UKGTN"
            ],
            "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": {
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                            "location": "2:189839046-189877472",
                            "ensembl_id": "ENSG00000168542"
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                    },
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                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Ehlers-Danlos syndrome, type IV  130050"
            ],
            "transcript": null,
            "entity_name": "COL3A1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "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"
            ],
            "gene_data": {
                "alias": [
                    "END",
                    "HHT1",
                    "CD105"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3349",
                "gene_name": "endoglin",
                "omim_gene": [
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                "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"
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                    },
                    "GRch38": {
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                            "ensembl_id": "ENSG00000106991"
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                    }
                },
                "hgnc_date_symbol_changed": "1993-03-03"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Telangiectasia, hereditary hemorrhagic, type 1 187300"
            ],
            "transcript": null,
            "entity_name": "ENG",
            "entity_type": "gene",
            "publications": [
                "20301525",
                "15024723"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "new-gene-name"
            ],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "Expert list",
                "Other"
            ],
            "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"
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                    },
                    "GRch38": {
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                            "location": "4:155666711-155732349",
                            "ensembl_id": "ENSG00000164116"
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                    }
                },
                "hgnc_date_symbol_changed": "1993-11-09"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Moyamoya 6 with achalasia",
                "Moyamoya 6 with achalasia, 615750"
            ],
            "transcript": null,
            "entity_name": "GUCY1A3",
            "entity_type": "gene",
            "publications": [
                "24581742",
                "26777256"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "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"
            ],
            "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",
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                "ensembl_genes": {
                    "GRch37": {
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                            "location": "7:91828283-91875480",
                            "ensembl_id": "ENSG00000001631"
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                    },
                    "GRch38": {
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                            "location": "7:92198969-92246166",
                            "ensembl_id": "ENSG00000001631"
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                    }
                },
                "hgnc_date_symbol_changed": "2005-03-17"
            },
            "penetrance": "Complete",
            "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"
            ],
            "transcript": null,
            "entity_name": "KRIT1",
            "entity_type": "gene",
            "publications": [
                "10508515",
                "20301470"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "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"
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            "gene_data": {
                "alias": [
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8761",
                "gene_name": "programmed cell death 10",
                "omim_gene": [
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                "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": {
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                            "location": "3:167683298-167734939",
                            "ensembl_id": "ENSG00000114209"
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                "hgnc_date_symbol_changed": "1999-12-10"
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            "penetrance": "Complete",
            "phenotypes": [
                "Cerebral cavernous malformations 3, 603285",
                "Cerebral Cavernous Malformation",
                "Cerebral cavernous malformations 3",
                "Cerebral Cavernous Malformations",
                "Familial Cerebral Cavernous Malformation"
            ],
            "transcript": null,
            "entity_name": "PDCD10",
            "entity_type": "gene",
            "publications": [
                "20301470",
                "15543491"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments"
        },
        {
            "tags": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Green",
                "Other",
                "Illumina TruGenome Clinical Sequencing Services",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "GAP",
                    "CM-AVM",
                    "p120GAP",
                    "p120RASGAP",
                    "p120"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9871",
                "gene_name": "RAS p21 protein activator 1",
                "omim_gene": [
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                "alias_name": [
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                    "p120 RAS GTPase activating protein"
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                "hgnc_symbol": "RASA1",
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                            "ensembl_id": "ENSG00000145715"
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                            "ensembl_id": "ENSG00000145715"
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                "hgnc_date_symbol_changed": "1989-06-30"
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            "penetrance": "Complete",
            "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"
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            "transcript": null,
            "entity_name": "RASA1",
            "entity_type": "gene",
            "publications": [
                "14639529"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert list",
                "Other"
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            "gene_data": {
                "alias": [
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                    "NET57"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14539",
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                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "RNF213",
                "hgnc_symbol": "RNF213",
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                "ensembl_genes": {
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                            "location": "17:78234665-78372586",
                            "ensembl_id": "ENSG00000173821"
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                    "GRch38": {
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                            "ensembl_id": "ENSG00000173821"
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                },
                "hgnc_date_symbol_changed": "2007-02-08"
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            "penetrance": "Complete",
            "phenotypes": [
                "{Moyamoya disease 2, susceptibility to}"
            ],
            "transcript": null,
            "entity_name": "RNF213",
            "entity_type": "gene",
            "publications": [
                "21048783"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Green",
                "Expert list"
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            "gene_data": {
                "alias": [
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:15925",
                "gene_name": "SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1",
                "omim_gene": [
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                "alias_name": [
                    "HD domain containing 1",
                    "monocyte protein 5",
                    "Aicardi-Goutieres syndrome 5"
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                "hgnc_symbol": "SAMHD1",
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                "ensembl_genes": {
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                "hgnc_date_symbol_changed": "2001-07-31"
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            "penetrance": "Complete",
            "phenotypes": [
                "Moyamoya disease"
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            "transcript": null,
            "entity_name": "SAMHD1",
            "entity_type": "gene",
            "publications": [
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                "20653736"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Green",
                "Expert list"
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            "gene_data": {
                "alias": [
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13444",
                "gene_name": "solute carrier family 2 member 10",
                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "SLC2A10",
                "hgnc_symbol": "SLC2A10",
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                "ensembl_genes": {
                    "GRch37": {
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                            "location": "20:45338126-45364965",
                            "ensembl_id": "ENSG00000197496"
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                    "GRch38": {
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                "hgnc_date_symbol_changed": "2001-04-02"
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            "penetrance": "Complete",
            "phenotypes": [
                "Arterial tortuosity syndrome",
                "Moyamoya disease",
                "208050"
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            "transcript": null,
            "entity_name": "SLC2A10",
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory"
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            "gene_data": {
                "alias": [
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6770",
                "gene_name": "SMAD family member 4",
                "omim_gene": [
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                "alias_name": null,
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                "ensembl_genes": {
                    "GRch37": {
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                "hgnc_date_symbol_changed": "2004-05-26"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome  175050"
            ],
            "transcript": null,
            "entity_name": "SMAD4",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
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            "tags": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Green",
                "Expert list"
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            "gene_data": {
                "alias": [
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                    "HCCA2",
                    "YAP"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:30935",
                "gene_name": "YY1 associated protein 1",
                "omim_gene": [
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                "gene_symbol": "YY1AP1",
                "hgnc_symbol": "YY1AP1",
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                "hgnc_date_symbol_changed": "2005-02-09"
            },
            "penetrance": null,
            "phenotypes": [
                "Grange syndrome, 602531"
            ],
            "transcript": null,
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": null
        },
        {
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                "Expert Review Amber",
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Literature",
                "Radboud University Medical Center, Nijmegen"
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                "biotype": "protein_coding",
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                "hgnc_date_symbol_changed": "2017-02-16"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Sneddon syndrome  182410",
                "Polyarteritis nodosa"
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            "transcript": null,
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            "confidence_level": "2",
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        {
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                "Yorkshire and North East GLH",
                "NHS GMS",
                "Radboud University Medical Center, Nijmegen",
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                },
                "hgnc_date_symbol_changed": "1998-04-06"
            },
            "penetrance": "Complete",
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                "Seckel syndrome 1  210600"
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            "entity_name": "ATR",
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            "mode_of_pathogenicity": ""
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        {
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                "Expert Review Amber",
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                    "c-Cbl"
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                "alias_name": [
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                "hgnc_symbol": "CBL",
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            "penetrance": "Complete",
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                "Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563"
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                "25283271"
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            "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments"
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        {
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                "hgnc_symbol": "CEP152",
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                    },
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                "hgnc_date_symbol_changed": "2005-12-01"
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            "penetrance": "Complete",
            "phenotypes": [
                "Seckel syndrome 5  613823"
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                "21131973"
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            "confidence_level": "2",
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        {
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                "NHS GMS",
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                "Expert list"
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                "biotype": "protein_coding",
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                "hgnc_symbol": "EPHB4",
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                            "location": "7:100400187-100425121",
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                    },
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                            "location": "7:100802565-100827521",
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                "hgnc_date_symbol_changed": "1994-12-15"
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                "Capillary malformation-arteriovenous malformation 2, 618196"
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            "transcript": null,
            "entity_name": "EPHB4",
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            "confidence_level": "2",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
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                "biotype": "protein_coding",
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                "hgnc_date_symbol_changed": "2007-05-01"
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            "penetrance": "Complete",
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            "entity_type": "gene",
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            "confidence_level": "2",
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                    "BMP9"
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            "phenotypes": [
                "Sickle cell anemia  603903"
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            "confidence_level": "2",
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                "moyamoya-like angiopath",
                "Aortic aneurysm, familial thoracic 4, 132900"
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            "entity_name": "MYH11",
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            "confidence_level": "2",
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            "penetrance": "Complete",
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                "Polycystic kidney disease, adult type I  173900"
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            "entity_name": "PKD1",
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            "confidence_level": "2",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
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                "Expert Review Amber",
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            "phenotypes": [
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            "entity_name": "PKD2",
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
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                        "82": {
                            "location": "4:55944644-55991756",
                            "ensembl_id": "ENSG00000128052"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:55078477-55125589",
                            "ensembl_id": "ENSG00000128052"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-07-10"
            },
            "penetrance": "Complete",
            "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"
            ],
            "transcript": null,
            "entity_name": "KDR",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Red",
                "UKGTN"
            ],
            "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"
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                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Cerebral Malformation Disorders"
            ],
            "transcript": null,
            "entity_name": "LAMB1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Red",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "DKFZp434E202"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6494",
                "gene_name": "laminin subunit gamma 3",
                "omim_gene": [
                    "604349"
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                "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"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Cerebral Malformation Disorders"
            ],
            "transcript": null,
            "entity_name": "LAMC3",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Red",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "KIAA0609"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6511",
                "gene_name": "LARGE xylosyl- and glucuronyltransferase 1",
                "omim_gene": [
                    "603590"
                ],
                "alias_name": [
                    "like-acetylglucosaminyltransferase"
                ],
                "gene_symbol": "LARGE1",
                "hgnc_symbol": "LARGE1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "22:33558212-34318829",
                            "ensembl_id": "ENSG00000133424"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "22:33162226-33922841",
                            "ensembl_id": "ENSG00000133424"
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                    }
                },
                "hgnc_date_symbol_changed": "2016-05-31"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Cerebral Malformation Disorders"
            ],
            "transcript": null,
            "entity_name": "LARGE1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Red",
                "Illumina TruGenome Clinical Sequencing Services",
                "Emory Genetics Laboratory",
                "Radboud University Medical Center, Nijmegen"
            ],
            "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"
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                    }
                },
                "hgnc_date_symbol_changed": "1995-02-08"
            },
            "penetrance": "Complete",
            "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"
            ],
            "transcript": null,
            "entity_name": "MEF2C",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Red",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
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                    "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": {
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                            "location": "16:15737124-15820210",
                            "ensembl_id": "ENSG00000072864"
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                    },
                    "GRch38": {
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                            "location": "16:15643267-15726353",
                            "ensembl_id": "ENSG00000072864"
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                    }
                },
                "hgnc_date_symbol_changed": "2003-04-10"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Cerebral Malformation Disorders"
            ],
            "transcript": null,
            "entity_name": "NDE1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Red",
                "Radboud University Medical Center, Nijmegen"
            ],
            "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"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "14:50719763-50831121",
                            "ensembl_id": "ENSG00000100503"
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                    }
                },
                "hgnc_date_symbol_changed": "2001-03-15"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Seckel syndrome 7  614851"
            ],
            "transcript": null,
            "entity_name": "NIN",
            "entity_type": "gene",
            "publications": [
                "22933543"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services",
                "UKGTN",
                "Expert list"
            ],
            "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"
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                    },
                    "GRch38": {
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                    }
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                "hgnc_date_symbol_changed": "1994-07-04"
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            "penetrance": "Complete",
            "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)"
            ],
            "transcript": null,
            "entity_name": "NOTCH3",
            "entity_type": "gene",
            "publications": [
                "8878478",
                "20301673"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": "Other - please provide details in the comments"
        },
        {
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            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Red",
                "UKGTN"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8104",
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                "omim_gene": [
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                "alias_name": [
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                "hgnc_symbol": "OCLN",
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                            "ensembl_id": "ENSG00000197822"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-01-20"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Cerebral Malformation Disorders"
            ],
            "transcript": null,
            "entity_name": "OCLN",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Red",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "OPN1",
                    "ARHGAP41"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8148",
                "gene_name": "oligophrenin 1",
                "omim_gene": [
                    "300127"
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                "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"
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                    },
                    "GRch38": {
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                            "location": "X:68042344-68433913",
                            "ensembl_id": "ENSG00000079482"
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                },
                "hgnc_date_symbol_changed": "1998-05-12"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Cerebral Malformation Disorders"
            ],
            "transcript": null,
            "entity_name": "OPHN1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Red",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "LIS1",
                    "PAFAH",
                    "NudF"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8574",
                "gene_name": "platelet activating factor acetylhydrolase 1b regulatory subunit 1",
                "omim_gene": [
                    "601545"
                ],
                "alias_name": [
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                ],
                "gene_symbol": "PAFAH1B1",
                "hgnc_symbol": "PAFAH1B1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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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"
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            "penetrance": "Complete",
            "phenotypes": [
                "Cerebral Malformation Disorders"
            ],
            "transcript": null,
            "entity_name": "PAFAH1B1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Red",
                "Other",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "PI3K"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8975",
                "gene_name": "phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",
                "omim_gene": [
                    "171834"
                ],
                "alias_name": null,
                "gene_symbol": "PIK3CA",
                "hgnc_symbol": "PIK3CA",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "3:178865902-178957881",
                            "ensembl_id": "ENSG00000121879"
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                    },
                    "GRch38": {
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                            "ensembl_id": "ENSG00000121879"
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                },
                "hgnc_date_symbol_changed": "1994-07-15"
            },
            "penetrance": "Complete",
            "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"
            ],
            "transcript": null,
            "entity_name": "PIK3CA",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Red",
                "UKGTN"
            ],
            "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"
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                    }
                },
                "hgnc_date_symbol_changed": "1992-12-08"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Cerebral Malformation Disorders"
            ],
            "transcript": null,
            "entity_name": "PIK3R2",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Red",
                "UKGTN"
            ],
            "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": {
                        "90": {
                            "location": "1:46188682-46220305",
                            "ensembl_id": "ENSG00000085998"
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                    }
                },
                "hgnc_date_symbol_changed": "2005-06-02"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Cerebral Malformation Disorders"
            ],
            "transcript": null,
            "entity_name": "POMGNT1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Red",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "LGMD2K"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9202",
                "gene_name": "protein O-mannosyltransferase 1",
                "omim_gene": [
                    "607423"
                ],
                "alias_name": [
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                ],
                "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": {
                        "90": {
                            "location": "9:131502902-131523806",
                            "ensembl_id": "ENSG00000130714"
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                    }
                },
                "hgnc_date_symbol_changed": "1999-06-25"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Cerebral Malformation Disorders"
            ],
            "transcript": null,
            "entity_name": "POMT1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Red",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "LGMD2N"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:19743",
                "gene_name": "protein O-mannosyltransferase 2",
                "omim_gene": [
                    "607439"
                ],
                "alias_name": [
                    "Dolichyl-phosphate-mannose--protein mannosyltransferase"
                ],
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                "hgnc_symbol": "POMT2",
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