GET /api/v1/panels/96/?format=api
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Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept

{
    "id": 96,
    "hash_id": "568f8ba422c1fc1c79ca1774",
    "name": "Malformations of cortical development",
    "disease_group": "Neurology and neurodevelopmental disorders",
    "disease_sub_group": "Neurodevelopmental disorders",
    "status": "public",
    "version": "4.26",
    "version_created": "2024-04-03T10:27:31.688427Z",
    "relevant_disorders": [],
    "stats": {
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        "number_of_strs": 0,
        "number_of_regions": 1
    },
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        {
            "name": "Rare Disease 100K",
            "slug": "rare-disease-100k",
            "description": "Rare Disease 100K"
        },
        {
            "name": "GMS Rare Disease",
            "slug": "gms-rare-disease",
            "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
        },
        {
            "name": "Component Of Super Panel",
            "slug": "component-of-super-panel",
            "description": "This panel is a component of a Super Panel"
        },
        {
            "name": "GMS signed-off",
            "slug": "gms-signed-off",
            "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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        {
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                "alias": [],
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                    "102630"
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                "alias_name": null,
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                            "ensembl_id": "ENSG00000075624"
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            "entity_name": "ACTB",
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            "mode_of_pathogenicity": "",
            "publications": [],
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                "Expert Review Green",
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                "Emory Genetics Laboratory",
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                "Expert Review"
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            "tags": [],
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            "entity_type": "gene",
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            "publications": [],
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                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
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                "Emory Genetics Laboratory",
                "Expert Review"
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                "Baraitser Winter Syndrome"
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                    "TM7XN1"
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            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Illumina TruGenome Clinical Sequencing Services",
                "UKGTN"
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            "transcript": null
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                "hgnc_symbol": "AKT3",
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                "Expert Review Green",
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                "Expert Review"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
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                "mosaicism"
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            "transcript": null
        },
        {
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                "omim_gene": [
                    "612034"
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                "ensembl_genes": {
                    "GRch37": {
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                            "location": "19:1446300-1473243",
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                    "GRch38": {
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                            "ensembl_id": "ENSG00000115266"
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                },
                "hgnc_date_symbol_changed": "2004-03-18"
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            "entity_type": "gene",
            "entity_name": "APC2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
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                "25753423",
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                "22573669"
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            "evidence": [
                "Expert Review Green",
                "Expert list"
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                "Cortical dysplasia, complex, with other brain malformations 10 OMIM:618677"
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            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:652",
                "gene_name": "ADP ribosylation factor 1",
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                "hgnc_symbol": "ARF1",
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                "hgnc_date_symbol_changed": "1992-07-09"
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            "entity_type": "gene",
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            "mode_of_pathogenicity": null,
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            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Expert list"
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                "Periventricular nodular heterotopia 8, OMIM:618185"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
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        {
            "gene_data": {
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            "publications": [],
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                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services",
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                "Expert Review"
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            "phenotypes": [
                "Periventricular nodular heterotopia"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
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                    "EIEE1"
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                "biotype": "protein_coding",
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            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN"
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            "phenotypes": [
                "Lissencephaly, X-Linked, 2 300215",
                "Epileptic encephalopathy, early infantile, 1 308350",
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                "Partington syndrome 309510",
                "Proud syndrome 300004"
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            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
            "tags": [
                "nucleotide-repeat-expansion"
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            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "Calmbp1",
                    "ASP",
                    "FLJ10517",
                    "FLJ10549"
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                "gene_name": "abnormal spindle microtubule assembly",
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            "mode_of_pathogenicity": "",
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                "14574646",
                "16673149",
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                "Microcephaly 5, primary, autosomal recessive, OMIM:608716"
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                "biotype": "protein_coding",
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                "alias_name": [
                    "sodium/potassium-transporting ATPase subunit alpha-2",
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                    "sodium-potassium ATPase catalytic subunit alpha-2"
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                "hgnc_symbol": "ATP1A2",
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                            "location": "1:160085549-160113381",
                            "ensembl_id": "ENSG00000018625"
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            "entity_type": "gene",
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            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "30690204",
                "31608932"
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            "evidence": [
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "hydrops fetalis",
                "microcephaly",
                "arthrogryposis",
                "extensive cortical malformations"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:801",
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                "omim_gene": [
                    "182350"
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                "alias_name": [
                    "sodium/potassium-transporting ATPase subunit alpha-3",
                    "sodium pump subunit alpha-3",
                    "sodium-potassium ATPase catalytic subunit alpha-3"
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                "hgnc_symbol": "ATP1A3",
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                "ensembl_genes": {
                    "GRch37": {
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                            "location": "19:42470734-42501649",
                            "ensembl_id": "ENSG00000105409"
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                    },
                    "GRch38": {
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            "entity_type": "gene",
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            "penetrance": null,
            "mode_of_pathogenicity": null,
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                "33880529"
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            "evidence": [
                "NHS GMS",
                "Expert Review Green",
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            "phenotypes": [
                "Polymicrogyria, MONDO:0000087",
                "epilepsy, MONDO:0005027",
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                "Developmental and epileptic encephalopathy 99, OMIM:619606"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
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        {
            "gene_data": {
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                "biotype": "protein_coding",
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            "entity_type": "gene",
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            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
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                },
                "hgnc_date_symbol_changed": "1998-09-25"
            },
            "entity_type": "gene",
            "entity_name": "CASK",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "21954287",
                "20595373",
                "32700313",
                "33090494",
                "33272775",
                "35149592"
            ],
            "evidence": [
                "Expert Review Green",
                "NHS GMS"
            ],
            "phenotypes": [
                "Mental retardation and microcephaly with pontine and cerebellar hypoplasia OMIM:300749"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1583",
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                "omim_gene": [
                    "123833"
                ],
                "alias_name": [
                    "G1/S-specific cyclin D2"
                ],
                "gene_symbol": "CCND2",
                "hgnc_symbol": "CCND2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:4382938-4414516",
                            "ensembl_id": "ENSG00000118971"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "12:4273772-4305350",
                            "ensembl_id": "ENSG00000118971"
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                    }
                },
                "hgnc_date_symbol_changed": "1991-12-10"
            },
            "entity_type": "gene",
            "entity_name": "CCND2",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "Other - please provide details in the comments",
            "publications": [
                "24705253, 27854409"
            ],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Literature"
            ],
            "phenotypes": [
                "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3  615938"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CDHN",
                    "CD325"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1759",
                "gene_name": "cadherin 2",
                "omim_gene": [
                    "114020"
                ],
                "alias_name": [
                    "N-cadherin"
                ],
                "gene_symbol": "CDH2",
                "hgnc_symbol": "CDH2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "18:25530930-25757410",
                            "ensembl_id": "ENSG00000170558"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "18:27950966-28177446",
                            "ensembl_id": "ENSG00000170558"
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                    }
                },
                "hgnc_date_symbol_changed": "1991-09-13"
            },
            "entity_type": "gene",
            "entity_name": "CDH2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "31585109",
                "31650526"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, OMIM:618929",
                "Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MONDO:0030065"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "CHED",
                    "CDC2L",
                    "KIAA1791"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1733",
                "gene_name": "cyclin dependent kinase 13",
                "omim_gene": [
                    "603309"
                ],
                "alias_name": [
                    "cholinesterase-related cell division controller"
                ],
                "gene_symbol": "CDK13",
                "hgnc_symbol": "CDK13",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:39989636-40136733",
                            "ensembl_id": "ENSG00000065883"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:39950037-40097134",
                            "ensembl_id": "ENSG00000065883"
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                    }
                },
                "hgnc_date_symbol_changed": "2009-12-16"
            },
            "entity_type": "gene",
            "entity_name": "CDK13",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "27479907",
                "25529582"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "phenotypes": [
                "Congenital heart defects, dysmorphic facial features, and intellectual development disorder 617360"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "NY-BR-15",
                    "bA57K17.2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21638",
                "gene_name": "centrosomal protein 85 like",
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                "alias_name": null,
                "gene_symbol": "CEP85L",
                "hgnc_symbol": "CEP85L",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:118781935-119031238",
                            "ensembl_id": "ENSG00000111860"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "6:118460772-118710075",
                            "ensembl_id": "ENSG00000111860"
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                    }
                },
                "hgnc_date_symbol_changed": "2011-11-25"
            },
            "entity_type": "gene",
            "entity_name": "CEP85L",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "32097630",
                "32097629"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Lissencephaly 10, OMIM:618873",
                "Lissencephaly 10, MONDO:0030031"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [
                "gene-checked"
            ],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "RAIDD"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2340",
                "gene_name": "CASP2 and RIPK1 domain containing adaptor with death domain",
                "omim_gene": [
                    "603454"
                ],
                "alias_name": [
                    "RIP-associated ICH1/CED3-homologous protein with death domain"
                ],
                "gene_symbol": "CRADD",
                "hgnc_symbol": "CRADD",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:94071151-94288616",
                            "ensembl_id": "ENSG00000169372"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:93677375-93894840",
                            "ensembl_id": "ENSG00000169372"
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                    }
                },
                "hgnc_date_symbol_changed": "1999-05-07"
            },
            "entity_type": "gene",
            "entity_name": "CRADD",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "22279524",
                "27773430",
                "30914828"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Mental retardation, autosomal recessive 34, with variant lissencephaly, OMIM:614499"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "Cka1",
                    "Cka2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2457",
                "gene_name": "casein kinase 2 alpha 1",
                "omim_gene": [
                    "115440"
                ],
                "alias_name": null,
                "gene_symbol": "CSNK2A1",
                "hgnc_symbol": "CSNK2A1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "20:459116-524465",
                            "ensembl_id": "ENSG00000101266"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "20:473591-543821",
                            "ensembl_id": "ENSG00000101266"
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                    }
                },
                "hgnc_date_symbol_changed": "1992-02-13"
            },
            "entity_type": "gene",
            "entity_name": "CSNK2A1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "27048600",
                "29240241"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Okur-Chung neurodevelopmental syndrome, OMIM:617062"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CAP-R",
                    "CT114"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2510",
                "gene_name": "catenin alpha 2",
                "omim_gene": [
                    "114025"
                ],
                "alias_name": [
                    "cadherin-associated protein, related",
                    "cancer/testis antigen 114",
                    "alpha-N-catenin"
                ],
                "gene_symbol": "CTNNA2",
                "hgnc_symbol": "CTNNA2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:79412357-80875905",
                            "ensembl_id": "ENSG00000066032"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "2:79185231-80648861",
                            "ensembl_id": "ENSG00000066032"
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                    }
                },
                "hgnc_date_symbol_changed": "1993-07-13"
            },
            "entity_type": "gene",
            "entity_name": "CTNNA2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "30013181"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Cortical dysplasia, complex, with other brain malformations 9, OMIM:618174"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "A3a",
                    "156DAG",
                    "AGRNR",
                    "DAG"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2666",
                "gene_name": "dystroglycan 1",
                "omim_gene": [
                    "128239"
                ],
                "alias_name": [
                    "alpha-dystroglycan",
                    "dystrophin-associated glycoprotein-1",
                    "beta-dystroglycan"
                ],
                "gene_symbol": "DAG1",
                "hgnc_symbol": "DAG1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "3:49506146-49573048",
                            "ensembl_id": "ENSG00000173402"
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                    },
                    "GRch38": {
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                            "location": "3:49468703-49535618",
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                    }
                },
                "hgnc_date_symbol_changed": "1997-07-22"
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            "entity_type": "gene",
            "entity_name": "DAG1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "24052401",
                "25934851",
                "12140559"
            ],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
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            "phenotypes": [
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9  616538"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FIB1",
                    "KIAA1773",
                    "FLJ11790",
                    "CDHR6"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13681",
                "gene_name": "dachsous cadherin-related 1",
                "omim_gene": [
                    "603057"
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                "alias_name": [
                    "cadherin-related family member 6"
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                "gene_symbol": "DCHS1",
                "hgnc_symbol": "DCHS1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "11:6642556-6677085",
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                    },
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                            "ensembl_id": "ENSG00000166341"
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                    }
                },
                "hgnc_date_symbol_changed": "2004-09-03"
            },
            "entity_type": "gene",
            "entity_name": "DCHS1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "22473091",
                "24056717"
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            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Van Maldergem syndrome 1, OMIM:601390",
                "Periventricular nodular heterotopia"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "SCLH",
                    "DC",
                    "LISX",
                    "DBCN",
                    "XLIS"
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                "hgnc_id": "HGNC:2714",
                "gene_name": "doublecortin",
                "omim_gene": [
                    "300121"
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                "alias_name": [
                    "doublecortex"
                ],
                "gene_symbol": "DCX",
                "hgnc_symbol": "DCX",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:110537007-110655603",
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                    },
                    "GRch38": {
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                            "location": "X:111293779-111412429",
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                    }
                },
                "hgnc_date_symbol_changed": "1998-03-24"
            },
            "entity_type": "gene",
            "entity_name": "DCX",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Emory Genetics Laboratory",
                "Eligibility statement prior genetic testing",
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            "phenotypes": [
                "Lissencephaly, X-linked, OMIM:300067",
                "Subcortical laminal heterotopia, X-linked, OMIM:300067"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "KIAA0645",
                    "DEP.5"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:18423",
                "gene_name": "DEP domain containing 5",
                "omim_gene": [
                    "614191"
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                "alias_name": null,
                "gene_symbol": "DEPDC5",
                "hgnc_symbol": "DEPDC5",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "22:32149944-32303012",
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                    "GRch38": {
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                            "location": "22:31753951-31907034",
                            "ensembl_id": "ENSG00000100150"
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                    }
                },
                "hgnc_date_symbol_changed": "2004-05-05"
            },
            "entity_type": "gene",
            "entity_name": "DEPDC5",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "24585383",
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                "31444548",
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            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Expert list"
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            "phenotypes": [
                "Epilepsy, familial focal, with variable foci 1, OMIM:604364",
                "Focal cortical dysplasia"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
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                    "CRMP5",
                    "Ulip6",
                    "CRMP-5",
                    "CRAM"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:20637",
                "gene_name": "dihydropyrimidinase like 5",
                "omim_gene": [
                    "608383"
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                "hgnc_symbol": "DPYSL5",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "2:27070615-27173219",
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                    },
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                            "location": "2:26847747-26950351",
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                    }
                },
                "hgnc_date_symbol_changed": "2003-03-12"
            },
            "entity_type": "gene",
            "entity_name": "DPYSL5",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "33894126"
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            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "Dnchc1",
                    "HL-3",
                    "p22",
                    "DHC1",
                    "CMT2O"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2961",
                "gene_name": "dynein cytoplasmic 1 heavy chain 1",
                "omim_gene": [
                    "600112"
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                "gene_symbol": "DYNC1H1",
                "hgnc_symbol": "DYNC1H1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                    },
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                    }
                },
                "hgnc_date_symbol_changed": "2005-11-24"
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            "entity_type": "gene",
            "entity_name": "DYNC1H1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen",
                "Expert Review"
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            "phenotypes": [
                "Mental retardation, autosomal dominant 13  614563"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "EMAP",
                    "HuEMAP",
                    "ELP79"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3330",
                "gene_name": "echinoderm microtubule associated protein like 1",
                "omim_gene": [
                    "602033"
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                "alias_name": null,
                "gene_symbol": "EML1",
                "hgnc_symbol": "EML1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "14:100204030-100408397",
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                    },
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                    }
                },
                "hgnc_date_symbol_changed": "2002-02-15"
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            "entity_type": "gene",
            "entity_name": "EML1",
            "confidence_level": "3",
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            "mode_of_pathogenicity": null,
            "publications": [
                "24859200",
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            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Expert list"
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            "phenotypes": [
                "Band heterotopia, OMIM:600348"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "LGMD2I",
                    "MDC1C"
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                "biotype": "protein_coding",
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                "Expert Review"
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                "gene_name": "LARGE xylosyl- and glucuronyltransferase 1",
                "omim_gene": [
                    "603590"
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                "hgnc_symbol": "LARGE1",
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                            "ensembl_id": "ENSG00000133424"
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                    }
                },
                "hgnc_date_symbol_changed": "2016-05-31"
            },
            "entity_type": "gene",
            "entity_name": "LARGE1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Illumina TruGenome Clinical Sequencing Services",
                "Emory Genetics Laboratory",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "Expert Review"
            ],
            "phenotypes": [
                "Muscle-eye-brain disease"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
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                    "KIAA0465",
                    "ACF7",
                    "ABP620",
                    "KIAA1251",
                    "MACF",
                    "FLJ45612",
                    "FLJ46776"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13664",
                "gene_name": "microtubule-actin crosslinking factor 1",
                "omim_gene": [
                    "608271"
                ],
                "alias_name": [
                    "actin cross-linking factor",
                    "620 kDa actin binding protein",
                    "macrophin 1",
                    "trabeculin-alpha",
                    "actin cross-linking family protein 7"
                ],
                "gene_symbol": "MACF1",
                "hgnc_symbol": "MACF1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:39546988-39952849",
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                    },
                    "GRch38": {
                        "90": {
                            "location": "1:39081316-39487177",
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                    }
                },
                "hgnc_date_symbol_changed": "2002-01-09"
            },
            "entity_type": "gene",
            "entity_name": "MACF1",
            "confidence_level": "3",
            "penetrance": null,
            "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": [
                "30471716"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Lissencephaly 9 with complex brainstem malformation, 618325"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
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                    "MAP5",
                    "PPP1R102"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6836",
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                "omim_gene": [
                    "157129"
                ],
                "alias_name": [
                    "protein phosphatase 1, regulatory subunit 102"
                ],
                "gene_symbol": "MAP1B",
                "hgnc_symbol": "MAP1B",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:71403061-71505395",
                            "ensembl_id": "ENSG00000131711"
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                    },
                    "GRch38": {
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                            "location": "5:72107234-72209570",
                            "ensembl_id": "ENSG00000131711"
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                    }
                },
                "hgnc_date_symbol_changed": "1992-02-06"
            },
            "entity_type": "gene",
            "entity_name": "MAP1B",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "31317654",
                "30150678",
                "30214071"
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            "evidence": [
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Periventricular nodular heterotopia 9, OMIM:618918"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "KIAA1066",
                    "JSAP1",
                    "JIP3",
                    "syd"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6884",
                "gene_name": "mitogen-activated protein kinase 8 interacting protein 3",
                "omim_gene": [
                    "605431"
                ],
                "alias_name": [
                    "homolog of Drosophila Sunday driver 2"
                ],
                "gene_symbol": "MAPK8IP3",
                "hgnc_symbol": "MAPK8IP3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:1756184-1820318",
                            "ensembl_id": "ENSG00000138834"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:1706183-1770317",
                            "ensembl_id": "ENSG00000138834"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-08-22"
            },
            "entity_type": "gene",
            "entity_name": "MAPK8IP3",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "30612693",
                "30945334"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "MGCR1-PEN",
                    "MGCR1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7180",
                "gene_name": "MN1 proto-oncogene, transcriptional regulator",
                "omim_gene": [
                    "156100"
                ],
                "alias_name": [
                    "probable tumor suppressor protein MN1"
                ],
                "gene_symbol": "MN1",
                "hgnc_symbol": "MN1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "22:28144265-28197486",
                            "ensembl_id": "ENSG00000169184"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "22:27748277-27801498",
                            "ensembl_id": "ENSG00000169184"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-06-08"
            },
            "entity_type": "gene",
            "entity_name": "MN1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "31834374",
                "31839203",
                "15870292"
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            "evidence": [
                "Expert Review Green",
                "Literature"
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                "CEBALID syndrome, OMIM:618774",
                "CEBALID syndrome, MONDO:0032908"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": []
        },
        {
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                    "RAFT1",
                    "RAPT1",
                    "FLJ44809"
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                "biotype": "protein_coding",
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                "gene_name": "mechanistic target of rapamycin kinase",
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                "alias_name": [
                    "FK506 binding protein 12-rapamycin associated protein 2",
                    "rapamycin target protein",
                    "FKBP12-rapamycin complex-associated protein 1",
                    "FKBP-rapamycin associated protein",
                    "rapamycin associated protein FRAP2",
                    "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)",
                    "rapamycin and FKBP12 target 1",
                    "mammalian target of rapamycin"
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                "gene_symbol": "MTOR",
                "hgnc_symbol": "MTOR",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:11166592-11322564",
                            "ensembl_id": "ENSG00000198793"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "1:11106535-11262507",
                            "ensembl_id": "ENSG00000198793"
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                    }
                },
                "hgnc_date_symbol_changed": "2009-05-29"
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            "entity_type": "gene",
            "entity_name": "MTOR",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "Other - please provide details in the comments",
            "publications": [
                "26018084",
                "27830187",
                "25878179"
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            "evidence": [
                "Expert Review Green",
                "Literature"
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                "Focal cortical dysplasia, type II, somatic 607341"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [
                "somatic",
                "mosaicism"
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            "transcript": null
        },
        {
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                    "nudE",
                    "FLJ20101",
                    "NDE"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17619",
                "gene_name": "nudE neurodevelopment protein 1",
                "omim_gene": [
                    "609449"
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                "alias_name": null,
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                "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": {
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                            "location": "16:15643267-15726353",
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                "hgnc_date_symbol_changed": "2003-04-10"
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            "entity_type": "gene",
            "entity_name": "NDE1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Illumina TruGenome Clinical Sequencing Services",
                "UKGTN"
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            "phenotypes": [
                "Lissencephaly 4 (with microcephaly) 614019",
                "?Microhydranencephaly 605013"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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            "transcript": null
        },
        {
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                    "RSP5",
                    "NEDD4-2"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7728",
                "gene_name": "neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase",
                "omim_gene": [
                    "606384"
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                "alias_name": null,
                "gene_symbol": "NEDD4L",
                "hgnc_symbol": "NEDD4L",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "18:55711599-56068772",
                            "ensembl_id": "ENSG00000049759"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "18:58044367-58401540",
                            "ensembl_id": "ENSG00000049759"
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                },
                "hgnc_date_symbol_changed": "2000-03-14"
            },
            "entity_type": "gene",
            "entity_name": "NEDD4L",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "27694961"
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            "evidence": [
                "Expert Review Green",
                "Expert Review"
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            "phenotypes": [
                "Periventricular nodular heterotopia 7  617201"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
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        },
        {
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                    "NPR2"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:24969",
                "gene_name": "NPR2 like, GATOR1 complex subunit",
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                    "607072"
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                "alias_name": null,
                "gene_symbol": "NPRL2",
                "hgnc_symbol": "NPRL2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "3:50384761-50388522",
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                    },
                    "GRch38": {
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                            "location": "3:50347330-50351091",
                            "ensembl_id": "ENSG00000114388"
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                    }
                },
                "hgnc_date_symbol_changed": "2010-03-30"
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            "entity_type": "gene",
            "entity_name": "NPRL2",
            "confidence_level": "3",
            "penetrance": "Incomplete",
            "mode_of_pathogenicity": null,
            "publications": [
                "29281825",
                "27173016",
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            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Expert list"
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            "phenotypes": [
                "Epilepsy, familial focal, with variable foci 2, OMIM:617116"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
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            "transcript": null
        },
        {
            "gene_data": {
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                    "600928"
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                "alias_name": [
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                "hgnc_symbol": "NPRL3",
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                "ensembl_genes": {
                    "GRch37": {
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                            "location": "16:134273-188859",
                            "ensembl_id": "ENSG00000103148"
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                    },
                    "GRch38": {
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                            "location": "16:84271-138860",
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                },
                "hgnc_date_symbol_changed": "2010-03-30"
            },
            "entity_type": "gene",
            "entity_name": "NPRL3",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "27173016",
                "26285051"
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            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Expert list"
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                "Epilepsy, familial focal, with variable foci 3, OMIM:617118"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
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        },
        {
            "gene_data": {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25305",
                "gene_name": "nuclear speckle splicing regulatory protein 1",
                "omim_gene": [
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                "alias_name": null,
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                "hgnc_symbol": "NSRP1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "17:28442539-28513493",
                            "ensembl_id": "ENSG00000126653"
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                    },
                    "GRch38": {
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                    }
                },
                "hgnc_date_symbol_changed": "2011-05-24"
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            "entity_type": "gene",
            "entity_name": "NSRP1",
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            "mode_of_pathogenicity": null,
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            "evidence": [
                "NHS GMS",
                "Expert Review Green",
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                "NSRP1-associated developmental delay, epilepsy and microcephaly"
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            "transcript": []
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        {
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                "biotype": "protein_coding",
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                "omim_gene": [
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                "alias_name": [
                    "tight junction protein occludin TM4 minus",
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                "hgnc_symbol": "OCLN",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "5:68788119-68853931",
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                    },
                    "GRch38": {
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                "hgnc_date_symbol_changed": "1998-01-20"
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            "entity_type": "gene",
            "entity_name": "OCLN",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "20727516"
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            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen"
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                "Band-like calcification with simplified gyration and polymicrogyria  251290"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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            "transcript": null
        },
        {
            "gene_data": {
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                "gene_name": "O-sialoglycoprotein endopeptidase",
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                "hgnc_symbol": "OSGEP",
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                "ensembl_genes": {
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                            "location": "14:20914570-20923264",
                            "ensembl_id": "ENSG00000092094"
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                    },
                    "GRch38": {
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                            "location": "14:20446411-20455105",
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                "hgnc_date_symbol_changed": "2002-01-23"
            },
            "entity_type": "gene",
            "entity_name": "OSGEP",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": null,
            "publications": [
                "28805828"
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            "evidence": [
                "Expert Review Green",
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            "phenotypes": [
                "Galloway-Mowat syndrome 3\t617729"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8574",
                "gene_name": "platelet activating factor acetylhydrolase 1b regulatory subunit 1",
                "omim_gene": [
                    "601545"
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                "alias_name": [
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                            "location": "17:2496504-2588909",
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                    "GRch38": {
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                },
                "hgnc_date_symbol_changed": "1998-04-03"
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            "entity_type": "gene",
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            "penetrance": "Complete",
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            "evidence": [
                "Expert Review Green",
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                "Illumina TruGenome Clinical Sequencing Services",
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        },
        {
            "gene_data": {
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                "biotype": "protein_coding",
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                "ensembl_genes": {
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                    },
                    "GRch38": {
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                "Polymicrogyria, hemimegalencephaly, macrocephaly"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
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                    "P85B",
                    "p85"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8980",
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                "omim_gene": [
                    "603157"
                ],
                "alias_name": [
                    "phosphoinositide-3-kinase regulatory subunit beta"
                ],
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                "hgnc_symbol": "PIK3R2",
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                "ensembl_genes": {
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                            "ensembl_id": "ENSG00000105647"
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                    "GRch38": {
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                    }
                },
                "hgnc_date_symbol_changed": "1992-12-08"
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            "entity_type": "gene",
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            "penetrance": "Complete",
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            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "Expert Review"
            ],
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            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
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                    "LGMD2O"
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                "gene_name": "protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)",
                "omim_gene": [
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                ],
                "alias_name": [
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                "hgnc_symbol": "POMGNT1",
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                    },
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                    }
                },
                "hgnc_date_symbol_changed": "2005-06-02"
            },
            "entity_type": "gene",
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            "confidence_level": "3",
            "penetrance": "Complete",
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            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Illumina TruGenome Clinical Sequencing Services",
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                "Emory Genetics Laboratory",
                "Expert Review"
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                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3  253280"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
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                    "FLJ14566",
                    "AGO61"
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                "hgnc_id": "HGNC:25902",
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                "gene_symbol": "POMGNT2",
                "hgnc_symbol": "POMGNT2",
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                    }
                },
                "hgnc_date_symbol_changed": "2013-08-22"
            },
            "entity_type": "gene",
            "entity_name": "POMGNT2",
            "confidence_level": "3",
            "penetrance": "Complete",
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            "publications": [
                "22958903"
            ],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory"
            ],
            "phenotypes": [
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8  614830"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "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": {
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                        "82": {
                            "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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            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services",
                "Emory Genetics Laboratory",
                "Expert Review"
            ],
            "phenotypes": [
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1  236670",
                "Type 2 lissencephaly"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
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                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:19743",
                "gene_name": "protein O-mannosyltransferase 2",
                "omim_gene": [
                    "607439"
                ],
                "alias_name": [
                    "Dolichyl-phosphate-mannose--protein mannosyltransferase"
                ],
                "gene_symbol": "POMT2",
                "hgnc_symbol": "POMT2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                        "82": {
                            "location": "14:77741299-77787227",
                            "ensembl_id": "ENSG00000009830"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "14:77274956-77320884",
                            "ensembl_id": "ENSG00000009830"
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                    }
                },
                "hgnc_date_symbol_changed": "2003-01-17"
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            "entity_type": "gene",
            "entity_name": "POMT2",
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            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Illumina TruGenome Clinical Sequencing Services",
                "Emory Genetics Laboratory",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN",
                "Expert Review"
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            "phenotypes": [
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2  613150",
                "Type 2 lissencephaly"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "MBS",
                    "M130"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7618",
                "gene_name": "protein phosphatase 1 regulatory subunit 12A",
                "omim_gene": [
                    "602021"
                ],
                "alias_name": [
                    "myosin phosphatase-targeting subunit 1",
                    "myosin binding subunit"
                ],
                "gene_symbol": "PPP1R12A",
                "hgnc_symbol": "PPP1R12A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "12:80167343-80329240",
                            "ensembl_id": "ENSG00000058272"
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                    },
                    "GRch38": {
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                            "location": "12:79773563-79935460",
                            "ensembl_id": "ENSG00000058272"
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                },
                "hgnc_date_symbol_changed": "2001-08-10"
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            "entity_type": "gene",
            "entity_name": "PPP1R12A",
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            "mode_of_pathogenicity": null,
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                "31883643"
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                "Expert Review Green",
                "Literature"
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                "Genitourinary and/or/brain malformation syndrome, OMIM:618820"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": []
        },
        {
            "gene_data": {
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                    "MMAC1",
                    "TEP1",
                    "PTEN1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9588",
                "gene_name": "phosphatase and tensin homolog",
                "omim_gene": [
                    "601728"
                ],
                "alias_name": [
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                ],
                "gene_symbol": "PTEN",
                "hgnc_symbol": "PTEN",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "10:89622870-89731687",
                            "ensembl_id": "ENSG00000171862"
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                    },
                    "GRch38": {
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                            "location": "10:87863113-87971930",
                            "ensembl_id": "ENSG00000171862"
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                    }
                },
                "hgnc_date_symbol_changed": "1997-04-21"
            },
            "entity_type": "gene",
            "entity_name": "PTEN",
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            "mode_of_pathogenicity": null,
            "publications": [
                "32162846"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Cowden syndrome 1 OMIM:158350",
                "Lhermitte-Duclos syndrome OMIM:158350",
                "Cowden syndrome 1 MONDO:0008021",
                "Macrocephaly/autism syndrome OMIM:605309",
                "macrocephaly-autism syndrome MONDO:0011537"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
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        },
        {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14244",
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                    "602207"
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                "alias_name": null,
                "gene_symbol": "RAB18",
                "hgnc_symbol": "RAB18",
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                "ensembl_genes": {
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                            "location": "10:27793197-27831143",
                            "ensembl_id": "ENSG00000099246"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "10:27504174-27542237",
                            "ensembl_id": "ENSG00000099246"
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                    }
                },
                "hgnc_date_symbol_changed": "2000-12-12"
            },
            "entity_type": "gene",
            "entity_name": "RAB18",
            "confidence_level": "3",
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            "mode_of_pathogenicity": null,
            "publications": [
                "21473985",
                "23420520"
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            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Expert list"
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            "phenotypes": [
                "Warburg micro syndrome 3, OMIM:614222"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
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                    "RAB3GAP",
                    "KIAA0066",
                    "RAB3GAP130",
                    "WARBM1"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17063",
                "gene_name": "RAB3 GTPase activating protein catalytic subunit 1",
                "omim_gene": [
                    "602536"
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                "alias_name": null,
                "gene_symbol": "RAB3GAP1",
                "hgnc_symbol": "RAB3GAP1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                        "82": {
                            "location": "2:135809835-135933964",
                            "ensembl_id": "ENSG00000115839"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "2:135052265-135176394",
                            "ensembl_id": "ENSG00000115839"
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                    }
                },
                "hgnc_date_symbol_changed": "2005-08-23"
            },
            "entity_type": "gene",
            "entity_name": "RAB3GAP1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "23420520",
                "32740904",
                "30730599",
                "20512159"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Warburg micro syndrome 1 OMIM:600118",
                "Warburg micro syndrome 1 MONDO:0010822"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "RAB3-GAP150",
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                    "DKFZP434D245",
                    "SPG69"
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                "hgnc_id": "HGNC:17168",
                "gene_name": "RAB3 GTPase activating non-catalytic protein subunit 2",
                "omim_gene": [
                    "609275"
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                "alias_name": null,
                "gene_symbol": "RAB3GAP2",
                "hgnc_symbol": "RAB3GAP2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                        "82": {
                            "location": "1:220321635-220445796",
                            "ensembl_id": "ENSG00000118873"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "1:220148293-220272454",
                            "ensembl_id": "ENSG00000118873"
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                },
                "hgnc_date_symbol_changed": "2005-08-23"
            },
            "entity_type": "gene",
            "entity_name": "RAB3GAP2",
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            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "23420520",
                "20967465",
                "32740904"
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            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Expert list"
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            "phenotypes": [
                "Warburg micro syndrome 2, OMIM:614225",
                "Warburg micro syndrome 2 MONDO:0013641"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9803",
                "gene_name": "Rac family small GTPase 3",
                "omim_gene": [
                    "602050"
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                "alias_name": null,
                "gene_symbol": "RAC3",
                "hgnc_symbol": "RAC3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:79989500-79992080",
                            "ensembl_id": "ENSG00000169750"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "17:82031624-82034204",
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                    }
                },
                "hgnc_date_symbol_changed": "1997-07-11"
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            "entity_type": "gene",
            "entity_name": "RAC3",
            "confidence_level": "3",
            "penetrance": "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",
            "publications": [
                "29276006",
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                "35851598",
                "35595279"
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            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
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            "phenotypes": [
                "Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, OMIM:618577"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
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        },
        {
            "gene_data": {
                "alias": [
                    "RL",
                    "PRO1598"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9957",
                "gene_name": "reelin",
                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "RELN",
                "hgnc_symbol": "RELN",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "7:103112231-103629963",
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                    },
                    "GRch38": {
                        "90": {
                            "location": "7:103471784-103989516",
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                },
                "hgnc_date_symbol_changed": "1997-07-22"
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            "entity_type": "gene",
            "entity_name": "RELN",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "10973257",
                "7682675"
            ],
            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services",
                "Emory Genetics Laboratory"
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            "phenotypes": [
                "Lissencephaly 2 (Norman-Roberts type)\t257320",
                "Type 2 lissencephaly and cerebellar hypoplasia"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:18654",
                "gene_name": "rotatin",
                "omim_gene": [
                    "610436"
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                "alias_name": null,
                "gene_symbol": "RTTN",
                "hgnc_symbol": "RTTN",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                        "82": {
                            "location": "18:67671029-67873181",
                            "ensembl_id": "ENSG00000176225"
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                    },
                    "GRch38": {
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                            "location": "18:70003031-70205945",
                            "ensembl_id": "ENSG00000176225"
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                    }
                },
                "hgnc_date_symbol_changed": "2002-07-11"
            },
            "entity_type": "gene",
            "entity_name": "RTTN",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "26608784"
            ],
            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                "UKGTN"
            ],
            "phenotypes": [
                "Microcephaly, short stature, and polymicrogyria with seizures  614833"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
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        },
        {
            "gene_data": {
                "alias": [
                    "Nav1.3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10590",
                "gene_name": "sodium voltage-gated channel alpha subunit 3",
                "omim_gene": [
                    "182391"
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                "alias_name": null,
                "gene_symbol": "SCN3A",
                "hgnc_symbol": "SCN3A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:165944032-166060577",
                            "ensembl_id": "ENSG00000153253"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "2:165087522-165204067",
                            "ensembl_id": "ENSG00000153253"
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                    }
                },
                "hgnc_date_symbol_changed": "1992-04-10"
            },
            "entity_type": "gene",
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            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
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                "30146301",
                "34081427"
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                "NHS GMS",
                "Expert Review Green",
                "Expert list"
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                "Polymicrogyria, MONDO:0000087",
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                "Developmental and epileptic encephalopathy 62, OMIM:617938"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
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        },
        {
            "gene_data": {
                "alias": [
                    "UGAT",
                    "UGT",
                    "UGT1",
                    "UGT2",
                    "UGTL"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11022",
                "gene_name": "solute carrier family 35 member A2",
                "omim_gene": [
                    "314375"
                ],
                "alias_name": null,
                "gene_symbol": "SLC35A2",
                "hgnc_symbol": "SLC35A2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:48760459-48769235",
                            "ensembl_id": "ENSG00000102100"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:48903180-48911958",
                            "ensembl_id": "ENSG00000102100"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-02-24"
            },
            "entity_type": "gene",
            "entity_name": "SLC35A2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "23561849",
                "24115232",
                "33407896"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)",
                "Congenital disorder of glycosylation, type IIm, OMIM:300896"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
            "tags": [
                "mosaicism",
                "somatic"
            ],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FZD11"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11119",
                "gene_name": "smoothened, frizzled class receptor",
                "omim_gene": [
                    "601500"
                ],
                "alias_name": [
                    "frizzled family member 11"
                ],
                "gene_symbol": "SMO",
                "hgnc_symbol": "SMO",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:128828713-128853386",
                            "ensembl_id": "ENSG00000128602"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:129188872-129213545",
                            "ensembl_id": "ENSG00000128602"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-01-17"
            },
            "entity_type": "gene",
            "entity_name": "SMO",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "27236920"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Curry-Jones syndrome, somatic mosaic 601707"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [
                "somatic",
                "mosaicism"
            ],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "SNAP-29",
                    "CEDNIK"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11133",
                "gene_name": "synaptosome associated protein 29",
                "omim_gene": [
                    "604202"
                ],
                "alias_name": [
                    "soluble 29 kDa NSF attachment protein"
                ],
                "gene_symbol": "SNAP29",
                "hgnc_symbol": "SNAP29",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "22:21213271-21245506",
                            "ensembl_id": "ENSG00000099940"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "22:20858983-20891218",
                            "ensembl_id": "ENSG00000099940"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-12-17"
            },
            "entity_type": "gene",
            "entity_name": "SNAP29",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "15968592",
                "21073448",
                "25958742",
                "28388629",
                "29051910",
                "30793783"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, OMIM:609528",
                "CEDNIK syndrome, MONDO:0012290"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11191",
                "gene_name": "SRY-box 11",
                "omim_gene": [
                    "600898"
                ],
                "alias_name": [
                    "SRY-related HMG-box gene 11"
                ],
                "gene_symbol": "SOX11",
                "hgnc_symbol": "SOX11",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:5832799-5841516",
                            "ensembl_id": "ENSG00000176887"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:5692667-5701385",
                            "ensembl_id": "ENSG00000176887"
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                    }
                },
                "hgnc_date_symbol_changed": "1995-06-08"
            },
            "entity_type": "gene",
            "entity_name": "SOX11",
            "confidence_level": "3",
            "penetrance": "unknown",
            "mode_of_pathogenicity": null,
            "publications": [
                "24886874",
                "26543203",
                "23556151"
            ],
            "evidence": [
                "Expert Review Green",
                "NHS GMS"
            ],
            "phenotypes": [
                "Coffin-Siris syndrome 9, OMIM:615866"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ30899",
                    "dJ310J6.1",
                    "FLJ34235",
                    "bA57L9.1",
                    "BROMI"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21485",
                "gene_name": "TBC1 domain family member 32",
                "omim_gene": [
                    "615867"
                ],
                "alias_name": [
                    "broad-minded homolog"
                ],
                "gene_symbol": "TBC1D32",
                "hgnc_symbol": "TBC1D32",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:121400640-121655891",
                            "ensembl_id": "ENSG00000146350"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:121079494-121334745",
                            "ensembl_id": "ENSG00000146350"
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                    }
                },
                "hgnc_date_symbol_changed": "2013-07-10"
            },
            "entity_type": "gene",
            "entity_name": "TBC1D32",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": null,
            "publications": [
                "32573025",
                "31130284",
                "32060556",
                "24285566",
                "35875813"
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            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Expert list",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Orofaciodigital syndrome, MONDO:0015375"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "gene-checked"
            ],
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "HP10481"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13530",
                "gene_name": "transmembrane protein 5",
                "omim_gene": [
                    "605862"
                ],
                "alias_name": null,
                "gene_symbol": "TMEM5",
                "hgnc_symbol": "TMEM5",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:64173583-64203338",
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                    },
                    "GRch38": {
                        "90": {
                            "location": "12:63779803-63809558",
                            "ensembl_id": "ENSG00000118600"
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                    }
                },
                "hgnc_date_symbol_changed": "2000-09-20"
            },
            "entity_type": "gene",
            "entity_name": "TMEM5",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "23217329"
            ],
            "evidence": [
                "Expert Review Green",
                "Emory Genetics Laboratory",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN"
            ],
            "phenotypes": [
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10  615041"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "new-gene-name"
            ],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "PDIA12"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:30739",
                "gene_name": "thioredoxin related transmembrane protein 2",
                "omim_gene": [
                    "616715"
                ],
                "alias_name": [
                    "protein disulfide isomerase family A, member 12"
                ],
                "gene_symbol": "TMX2",
                "hgnc_symbol": "TMX2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:57480072-57508445",
                            "ensembl_id": "ENSG00000213593"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "11:57712600-57740973",
                            "ensembl_id": "ENSG00000213593"
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                    }
                },
                "hgnc_date_symbol_changed": "2009-02-23"
            },
            "entity_type": "gene",
            "entity_name": "TMX2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "31586943",
                "31735293",
                "31270415"
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            "evidence": [
                "Expert Review Green",
                "Literature"
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            "phenotypes": [
                "Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730",
                "Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "P73"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12003",
                "gene_name": "tumor protein p73",
                "omim_gene": [
                    "601990"
                ],
                "alias_name": null,
                "gene_symbol": "TP73",
                "hgnc_symbol": "TP73",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:3569084-3652765",
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                    },
                    "GRch38": {
                        "90": {
                            "location": "1:3652520-3736201",
                            "ensembl_id": "ENSG00000078900"
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                    }
                },
                "hgnc_date_symbol_changed": "1997-11-12"
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            "entity_type": "gene",
            "entity_name": "TP73",
            "confidence_level": "3",
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            "mode_of_pathogenicity": null,
            "publications": [
                "31130284",
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                "NHS GMS",
                "Expert Review Green",
                "Expert list"
            ],
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                "Ciliary dyskinesia, primary, 47, and lissencephaly, OMIM:619466"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "TUBA3",
                    "B-ALPHA-1",
                    "FLJ25113"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:20766",
                "gene_name": "tubulin alpha 1a",
                "omim_gene": [
                    "602529"
                ],
                "alias_name": [
                    "tubulin, alpha, brain-specific"
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                "gene_symbol": "TUBA1A",
                "hgnc_symbol": "TUBA1A",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "12:49578579-49583107",
                            "ensembl_id": "ENSG00000167552"
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                            "location": "12:49184796-49189324",
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                },
                "hgnc_date_symbol_changed": "2007-01-30"
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            "entity_type": "gene",
            "entity_name": "TUBA1A",
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            "penetrance": "Complete",
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            "evidence": [
                "Expert Review Green",
                "Illumina TruGenome Clinical Sequencing Services",
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            "phenotypes": [
                "Lissencephaly 3 611603"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
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            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "OK/SW-cl.56",
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                    "Tubb5"
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                "hgnc_symbol": "TUBB",
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                "ensembl_genes": {
                    "GRch37": {
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                            "location": "6:30687978-30693203",
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                            "location": "6:30720201-30725426",
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                "hgnc_date_symbol_changed": "2004-11-22"
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            "entity_type": "gene",
            "entity_name": "TUBB",
            "confidence_level": "3",
            "penetrance": "Complete",
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            "publications": [
                "27010057",
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                "30016746"
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            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Other"
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            "phenotypes": [
                "Cortical dysplasia, complex, with other brain malformations 6, 615771"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "dJ40E16.7"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12412",
                "gene_name": "tubulin beta 2A class IIa",
                "omim_gene": [
                    "615101"
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                "alias_name": [
                    "class IIa beta-tubulin"
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                "gene_symbol": "TUBB2A",
                "hgnc_symbol": "TUBB2A",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "6:3153903-3157760",
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                    "GRch38": {
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                            "location": "6:3153669-3157526",
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                },
                "hgnc_date_symbol_changed": "2005-11-03"
            },
            "entity_type": "gene",
            "entity_name": "TUBB2A",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "24702957",
                "32571897"
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            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN",
                "Other"
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            "phenotypes": [
                "Cortical dysplasia, complex, with other brain malformations 5, OMIM:615763",
                "Complex cortical dysplasia with other brain malformations 5, MONDO:0014337"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "MGC8685",
                    "DKFZp566F223",
                    "bA506K6.1"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:30829",
                "gene_name": "tubulin beta 2B class IIb",
                "omim_gene": [
                    "612850"
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                "alias_name": [
                    "class IIb beta-tubulin"
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                "gene_symbol": "TUBB2B",
                "hgnc_symbol": "TUBB2B",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "6:3224495-3231964",
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                    "GRch38": {
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                },
                "hgnc_date_symbol_changed": "2005-11-03"
            },
            "entity_type": "gene",
            "entity_name": "TUBB2B",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "Other - please provide details in the comments",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Emory Genetics Laboratory",
                "Radboud University Medical Center, Nijmegen",
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            "phenotypes": [
                "Cortical dysplasia, complex, with other brain malformations 7, OMIM:610031"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "beta-4",
                    "CFEOM3",
                    "CFEOM3A"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:20772",
                "gene_name": "tubulin beta 3 class III",
                "omim_gene": [
                    "602661"
                ],
                "alias_name": [
                    "class III beta-tubulin"
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                "hgnc_symbol": "TUBB3",
                "hgnc_release": "2017-11-03T00:00:00",
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                            "location": "16:89987800-90005169",
                            "ensembl_id": "ENSG00000258947"
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                    },
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                            "location": "16:89921392-89938761",
                            "ensembl_id": "ENSG00000258947"
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                    }
                },
                "hgnc_date_symbol_changed": "2004-11-22"
            },
            "entity_type": "gene",
            "entity_name": "TUBB3",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "20829227"
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            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
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            ],
            "phenotypes": [
                "Cortical dysplasia, complex, with other brain malformations 1  614039"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "TUBGCP1"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12417",
                "gene_name": "tubulin gamma 1",
                "omim_gene": [
                    "191135"
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                "gene_symbol": "TUBG1",
                "hgnc_symbol": "TUBG1",
                "hgnc_release": "2017-11-03T00:00:00",
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                            "location": "17:40761694-40767252",
                            "ensembl_id": "ENSG00000131462"
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                    },
                    "GRch38": {
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                            "location": "17:42609676-42615234",
                            "ensembl_id": "ENSG00000131462"
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                },
                "hgnc_date_symbol_changed": "2000-01-20"
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            "entity_type": "gene",
            "entity_name": "TUBG1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
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                "23603762",
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                "29706637",
                "31151415"
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            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN",
                "Other"
            ],
            "phenotypes": [
                "Cortical dysplasia, complex, with other brain malformations 4 615412"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "GCP2",
                    "Spc97p",
                    "SPBC97"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:18599",
                "gene_name": "tubulin gamma complex associated protein 2",
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                "alias_name": null,
                "gene_symbol": "TUBGCP2",
                "hgnc_symbol": "TUBGCP2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "10:135093135-135125841",
                            "ensembl_id": "ENSG00000130640"
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                    },
                    "GRch38": {
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                    }
                },
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            "entity_type": "gene",
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                "31630790"
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            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM:618737"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "gene-checked"
            ],
            "transcript": []
        },
        {
            "gene_data": {
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                    "CARMQ1",
                    "CHRMQ1",
                    "VLDLRCH"
                ],
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                "hgnc_id": "HGNC:12698",
                "gene_name": "very low density lipoprotein receptor",
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                    "192977"
                ],
                "alias_name": null,
                "gene_symbol": "VLDLR",
                "hgnc_symbol": "VLDLR",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "9:2621834-2660053",
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                    },
                    "GRch38": {
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                    }
                },
                "hgnc_date_symbol_changed": "1993-09-24"
            },
            "entity_type": "gene",
            "entity_name": "VLDLR",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "16080122",
                "18364738",
                "18326629",
                "22700954",
                "22973972"
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            "evidence": [
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 OMIM:224050"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "DKFZP434J046",
                    "FLJ33298"
                ],
                "biotype": "protein_coding",
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                "gene_name": "WD repeat domain 62",
                "omim_gene": [
                    "613583"
                ],
                "alias_name": null,
                "gene_symbol": "WDR62",
                "hgnc_symbol": "WDR62",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "19:36545783-36596008",
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                    },
                    "GRch38": {
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                    }
                },
                "hgnc_date_symbol_changed": "2005-05-09"
            },
            "entity_type": "gene",
            "entity_name": "WDR62",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "21834044",
                "20890278",
                "20729831",
                "28377545",
                "10573015",
                "20890279",
                "30500859"
            ],
            "evidence": [
                "Expert Review Green",
                "Emory Genetics Laboratory",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services",
                "Expert Review"
            ],
            "phenotypes": [
                "Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, OMIM:604317"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "ICH1",
                    "PPP1R57",
                    "MGC2181"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1503",
                "gene_name": "caspase 2",
                "omim_gene": [
                    "600639"
                ],
                "alias_name": [
                    "protein phosphatase 1, regulatory subunit 57"
                ],
                "gene_symbol": "CASP2",
                "hgnc_symbol": "CASP2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:142985308-143004789",
                            "ensembl_id": "ENSG00000106144"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "7:143288215-143307696",
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                    }
                },
                "hgnc_date_symbol_changed": "1994-01-21"
            },
            "entity_type": "gene",
            "entity_name": "CASP2",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "37880421"
            ],
            "evidence": [
                "Expert Review Amber",
                "Literature"
            ],
            "phenotypes": [
                "neurodevelopmental disorder, MONDO:0700092",
                "hereditary cerebral malformation, MONDO:0957008"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "Q4_23_promote_green"
            ],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2202",
                "gene_name": "collagen type IV alpha 1 chain",
                "omim_gene": [
                    "120130"
                ],
                "alias_name": null,
                "gene_symbol": "COL4A1",
                "hgnc_symbol": "COL4A1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "13:110801318-110959496",
                            "ensembl_id": "ENSG00000187498"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "13:110148963-110307149",
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                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "COL4A1",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "30837194",
                "37157232",
                "30413629",
                "36324412"
            ],
            "evidence": [
                "Expert Review Amber",
                "Literature"
            ],
            "phenotypes": [
                "Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, OMIM:611773",
                "Brain small vessel disease with or without ocular anomalies, OMIM:175780",
                "Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, OMIM:618564",
                "{Hemorrhage, intracerebral, susceptibility to}, OMIM:614519"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [
                "Q4_23_promote_green",
                "Q4_23_NHS_review"
            ],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ22259",
                    "DKFZp686I14213"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2203",
                "gene_name": "collagen type IV alpha 2 chain",
                "omim_gene": [
                    "120090"
                ],
                "alias_name": [
                    "canstatin",
                    "collagen type IV alpha 2"
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                "gene_symbol": "COL4A2",
                "hgnc_symbol": "COL4A2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "13:110958159-111165374",
                            "ensembl_id": "ENSG00000134871"
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                    },
                    "GRch38": {
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                            "location": "13:110305812-110513027",
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                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
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            "entity_type": "gene",
            "entity_name": "COL4A2",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "30413629",
                "36324412",
                "22333902"
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            "evidence": [
                "Expert Review Amber",
                "Literature"
            ],
            "phenotypes": [
                "Brain small vessel disease 2, OMIM:614483",
                "{Hemorrhage, intracerebral, susceptibility to}, OMIM:614519"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [
                "Q4_23_promote_green",
                "Q4_23_NHS_review"
            ],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3341",
                "gene_name": "empty spiracles homeobox 2",
                "omim_gene": [
                    "600035"
                ],
                "alias_name": null,
                "gene_symbol": "EMX2",
                "hgnc_symbol": "EMX2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:119301955-119309056",
                            "ensembl_id": "ENSG00000170370"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "10:117542444-117549546",
                            "ensembl_id": "ENSG00000170370"
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                    }
                },
                "hgnc_date_symbol_changed": "1994-02-08"
            },
            "entity_type": "gene",
            "entity_name": "EMX2",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "8528262",
                "9359037",
                "18409201",
                "17506092"
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            "evidence": [
                "Expert Review Amber",
                "NHS GMS",
                "Other"
            ],
            "phenotypes": [
                "Schizencephaly, OMIM:269160"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CDHF14",
                    "FAT-J",
                    "CDHR11"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:23109",
                "gene_name": "FAT atypical cadherin 4",
                "omim_gene": [
                    "612411"
                ],
                "alias_name": [
                    "cadherin-related family member 11"
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                "gene_symbol": "FAT4",
                "hgnc_symbol": "FAT4",
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                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:126237554-126414087",
                            "ensembl_id": "ENSG00000196159"
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                    },
                    "GRch38": {
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                            "location": "4:125316399-125492932",
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                },
                "hgnc_date_symbol_changed": "2003-09-11"
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            "entity_type": "gene",
            "entity_name": "FAT4",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": null,
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                "22473091",
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                "Expert Review Amber",
                "Expert list"
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            "phenotypes": [
                "Van Maldergem syndrome 2, OMIM:615546"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "watchlist"
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            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "SAC3",
                    "hSac3",
                    "dJ249I4.1",
                    "ALS11",
                    "CMT4J"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:16873",
                "gene_name": "FIG4 phosphoinositide 5-phosphatase",
                "omim_gene": [
                    "609390"
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                "gene_symbol": "FIG4",
                "hgnc_symbol": "FIG4",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:110012499-110146631",
                            "ensembl_id": "ENSG00000112367"
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                    },
                    "GRch38": {
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                            "location": "6:109691312-109825428",
                            "ensembl_id": "ENSG00000112367"
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                    }
                },
                "hgnc_date_symbol_changed": "2007-07-30"
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            "entity_type": "gene",
            "entity_name": "FIG4",
            "confidence_level": "2",
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            "mode_of_pathogenicity": null,
            "publications": [
                "18758830",
                "24598713"
            ],
            "evidence": [
                "Expert Review Amber",
                "Expert list"
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            "phenotypes": [
                "?Polymicrogyria, bilateral temporooccipital OMIM:612691",
                "bilateral parasagittal parieto-occipital polymicrogyria MONDO:0012986"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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        },
        {
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                    "KIAA0614"
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                },
                "hgnc_date_symbol_changed": "2012-08-14"
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            "entity_type": "gene",
            "entity_name": "HECTD4",
            "confidence_level": "2",
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            "mode_of_pathogenicity": null,
            "publications": [
                "36401616"
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            "evidence": [
                "Expert Review Amber",
                "NHS GMS",
                "Literature"
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            "phenotypes": [
                "Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, OMIM:620250"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "gene-checked",
                "Q4_23_promote_green"
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            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "KIAA0243",
                    "LAM",
                    "hamartin"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12362",
                "gene_name": "TSC complex subunit 1",
                "omim_gene": [
                    "605284"
                ],
                "alias_name": [
                    "hamartin"
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                "gene_symbol": "TSC1",
                "hgnc_symbol": "TSC1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:135766735-135820020",
                            "ensembl_id": "ENSG00000165699"
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                    },
                    "GRch38": {
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                            "location": "9:132891348-132944633",
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                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "TSC1",
            "confidence_level": "2",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "Other - please provide details in the comments",
            "publications": [
                "28215400",
                "19175396",
                "16114042",
                "12112044"
            ],
            "evidence": [
                "Expert Review Amber",
                "Literature"
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            "phenotypes": [
                "Focal cortical dysplasia, type II, somatic 607341"
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                "mosaicism"
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        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
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                "alias_name": null,
                "gene_symbol": "TUBA8",
                "hgnc_symbol": "TUBA8",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "22:18593097-18629321",
                            "ensembl_id": "ENSG00000183785"
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                    },
                    "GRch38": {
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                },
                "hgnc_date_symbol_changed": "1999-10-29"
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            "entity_type": "gene",
            "entity_name": "TUBA8",
            "confidence_level": "2",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "19896110"
            ],
            "evidence": [
                "Expert Review Amber",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                "UKGTN"
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            "phenotypes": [
                "Polymicrogyria with optic nerve hypoplasia  613180"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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                "watchlist"
            ],
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        },
        {
            "gene_data": {
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                    "KIAA1861",
                    "FLJ20097",
                    "DKFZp313I2429",
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25956",
                "gene_name": "VPS50, EARP/GARPII complex subunit",
                "omim_gene": [
                    "616465"
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                "alias_name": [
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                "hgnc_symbol": "VPS50",
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                            "location": "7:92861653-92988338",
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                    }
                },
                "hgnc_date_symbol_changed": "2015-06-29"
            },
            "entity_type": "gene",
            "entity_name": "VPS50",
            "confidence_level": "2",
            "penetrance": "Complete",
            "mode_of_pathogenicity": null,
            "publications": [
                "34037727"
            ],
            "evidence": [
                "Expert Review Amber",
                "Literature"
            ],
            "phenotypes": [
                "Neonatal cholestatic liver disease",
                "Failure to thrive",
                "Profound global developmental delay",
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                "Abnormality of the corpus callosum"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "watchlist"
            ],
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14543",
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                "omim_gene": [
                    "300358"
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                "alias_name": null,
                "gene_symbol": "WNK3",
                "hgnc_symbol": "WNK3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:54219256-54385075",
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                },
                "hgnc_date_symbol_changed": "2005-01-22"
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            "entity_type": "gene",
            "entity_name": "WNK3",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "35678782"
            ],
            "evidence": [
                "Expert Review Amber",
                "Literature"
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            "phenotypes": [
                "Prieto syndrome, OMIM:309610",
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            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "tags": [
                "watchlist"
            ],
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2201",
                "gene_name": "collagen type III alpha 1 chain",
                "omim_gene": [
                    "120180"
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                "alias_name": null,
                "gene_symbol": "COL3A1",
                "hgnc_symbol": "COL3A1",
                "hgnc_release": "2017-11-03",
                "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": "1",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "19455184",
                "25205403",
                "28742248",
                "28258187"
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            "evidence": [
                "Literature"
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            "phenotypes": [
                "Polymicrogyria with or without vascular-type EDS, OMIM:618343",
                "polymicrogyria with or without vascular-type Ehlers-Danlos syndrome, MONDO:0032688"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": []
        },
        {
            "gene_data": {
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                    "PPH",
                    "MBP-1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3350",
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                    "172430"
                ],
                "alias_name": [
                    "alpha-enolase"
                ],
                "gene_symbol": "ENO1",
                "hgnc_symbol": "ENO1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:8921061-8939308",
                            "ensembl_id": "ENSG00000074800"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:8861002-8879249",
                            "ensembl_id": "ENSG00000074800"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1989-04-21"
            },
            "entity_type": "gene",
            "entity_name": "ENO1",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "32488097"
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            "evidence": [
                "Expert Review Red",
                "Literature"
            ],
            "phenotypes": [
                "Polymicrogyria, MONDO:0000087"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "TBR2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3372",
                "gene_name": "eomesodermin",
                "omim_gene": [
                    "604615"
                ],
                "alias_name": [
                    "T-box brain2"
                ],
                "gene_symbol": "EOMES",
                "hgnc_symbol": "EOMES",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:27757440-27764206",
                            "ensembl_id": "ENSG00000163508"
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                    },
                    "GRch38": {
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                            "location": "3:27715949-27722711",
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                    }
                },
                "hgnc_date_symbol_changed": "1998-09-15"
            },
            "entity_type": "gene",
            "entity_name": "EOMES",
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            "publications": [
                "17353897"
            ],
            "evidence": [
                "Literature"
            ],
            "phenotypes": [
                "microcephaly syndrome"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
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        },
        {
            "gene_data": {
                "alias": [
                    "FLJ11152",
                    "dJ266L20.3"
                ],
                "biotype": "protein_coding",
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                "gene_name": "ER membrane associated RNA degradation",
                "omim_gene": [
                    "615532"
                ],
                "alias_name": null,
                "gene_symbol": "ERMARD",
                "hgnc_symbol": "ERMARD",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "6:170151718-170181680",
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                    },
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                            "location": "6:169751622-169781584",
                            "ensembl_id": "ENSG00000130023"
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                    }
                },
                "hgnc_date_symbol_changed": "2013-08-28"
            },
            "entity_type": "gene",
            "entity_name": "ERMARD",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "24056535"
            ],
            "evidence": [
                "Expert Review Red",
                "UKGTN"
            ],
            "phenotypes": [
                "Periventricular nodular heterotopia 6  615544"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "KIAA1851"
                ],
                "biotype": "protein_coding",
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                "gene_name": "GDP-mannose pyrophosphorylase B",
                "omim_gene": [
                    "615320"
                ],
                "alias_name": [
                    "mannose-1-phosphate guanyltransferase beta"
                ],
                "gene_symbol": "GMPPB",
                "hgnc_symbol": "GMPPB",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:49754277-49761384",
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                    },
                    "GRch38": {
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                            "location": "3:49716844-49723951",
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                    }
                },
                "hgnc_date_symbol_changed": "2005-01-10"
            },
            "entity_type": "gene",
            "entity_name": "GMPPB",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "23768512"
            ],
            "evidence": [
                "Expert Review Red",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14  615350"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "DBL",
                    "ARHGEF21"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6940",
                "gene_name": "MCF.2 cell line derived transforming sequence",
                "omim_gene": [
                    "311030"
                ],
                "alias_name": [
                    "Oncogene MCF2 (oncogene DBL)"
                ],
                "gene_symbol": "MCF2",
                "hgnc_symbol": "MCF2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:138663929-138790386",
                            "ensembl_id": "ENSG00000101977"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:139581770-139708227",
                            "ensembl_id": "ENSG00000101977"
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                    }
                },
                "hgnc_date_symbol_changed": "1989-06-06"
            },
            "entity_type": "gene",
            "entity_name": "MCF2",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "31846234"
            ],
            "evidence": [
                "Expert Review Red",
                "Literature"
            ],
            "phenotypes": [
                "Perisylvian polymicrogyria",
                "bilateral perisylvian polymicrogyria, MONDO:0020340"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "PEX11-ALPHA",
                    "MGC119947",
                    "MGC138534"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8852",
                "gene_name": "peroxisomal biogenesis factor 11 alpha",
                "omim_gene": [
                    "603866"
                ],
                "alias_name": null,
                "gene_symbol": "PEX11A",
                "hgnc_symbol": "PEX11A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:90220995-90234014",
                            "ensembl_id": "ENSG00000166821"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "15:89677764-89690783",
                            "ensembl_id": "ENSG00000166821"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-11-11"
            },
            "entity_type": "gene",
            "entity_name": "PEX11A",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "25177298",
                "10716247",
                "11839773",
                "25608554"
            ],
            "evidence": [
                "Literature"
            ],
            "phenotypes": [
                "Zellweger syndrome",
                "peroxisome proliferation",
                "mild peroxisomal biogenesis defect"
            ],
            "mode_of_inheritance": "Unknown",
            "tags": [
                "watchlist"
            ],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "PTS2R",
                    "RD"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8860",
                "gene_name": "peroxisomal biogenesis factor 7",
                "omim_gene": [
                    "601757"
                ],
                "alias_name": [
                    "Refsum disease"
                ],
                "gene_symbol": "PEX7",
                "hgnc_symbol": "PEX7",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:137143717-137235075",
                            "ensembl_id": "ENSG00000112357"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "6:136822564-136913937",
                            "ensembl_id": "ENSG00000112357"
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                    }
                },
                "hgnc_date_symbol_changed": "1997-05-22"
            },
            "entity_type": "gene",
            "entity_name": "PEX7",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "27604308"
            ],
            "evidence": [
                "Expert Review Red",
                "NHS GMS",
                "Literature"
            ],
            "phenotypes": [
                "Rhizomelic chondrodysplasia punctata type 1 (Peroxisomal disorders)",
                "Peroxisome biogenesis disorder 9B, 614879",
                "Rhizomelic chondrodysplasia punctata, type 1, 215100"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ23356",
                    "SgK196"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26267",
                "gene_name": "protein-O-mannose kinase",
                "omim_gene": [
                    "615247"
                ],
                "alias_name": null,
                "gene_symbol": "POMK",
                "hgnc_symbol": "POMK",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "8:42948658-42978577",
                            "ensembl_id": "ENSG00000185900"
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                    },
                    "GRch38": {
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                            "location": "8:43093506-43123434",
                            "ensembl_id": "ENSG00000185900"
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                    }
                },
                "hgnc_date_symbol_changed": "2013-08-22"
            },
            "entity_type": "gene",
            "entity_name": "POMK",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "24925318"
            ],
            "evidence": [
                "Expert Review Red",
                "Literature"
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            "phenotypes": [
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12  615249"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "tuberin",
                    "LAM",
                    "PPP1R160"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12363",
                "gene_name": "TSC complex subunit 2",
                "omim_gene": [
                    "191092"
                ],
                "alias_name": [
                    "protein phosphatase 1, regulatory subunit 160"
                ],
                "gene_symbol": "TSC2",
                "hgnc_symbol": "TSC2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:2097466-2138716",
                            "ensembl_id": "ENSG00000103197"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "16:2047465-2088720",
                            "ensembl_id": "ENSG00000103197"
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                    }
                },
                "hgnc_date_symbol_changed": "1989-05-25"
            },
            "entity_type": "gene",
            "entity_name": "TSC2",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "Other - please provide details in the comments",
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                "Expert Review Red",
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            "phenotypes": [
                "Focal cortical dysplasia, type II, somatic 607341"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [
                "somatic",
                "mosaicism"
            ],
            "transcript": null
        }
    ],
    "strs": [],
    "regions": [
        {
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                "Expert Review Green",
                "ClinGen"
            ],
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                "microcephaly, dysgenesis of the corpus callosum, and cerebellar atrophy, as well as neurobehavioral disorders, including delayed development, mental retardation, and attention deficit-hyperactivity disorder. Patients with duplications of YWHAE tended to have macrosomia, facial dysmorphism, and mild developmental delay",
                "growth restriction, craniofacial dysmorphisms, structural abnormalities of brain and cognitive impairment",
                "Chromosome 17p13.3 duplication syndrome",
                "prominent forehead, bitemporal hollowing, short nose with upturned nares, protuberant upper lip, thin vermilion border, and small jaw",
                "Characteristic facies, pre- and post-natal growth retardation",
                "247200",
                "classic lissencephaly (pachygyria, incomplete or absent gyration of the cerebrum), microcephaly, wrinkled skin over the glabella and frontal suture, prominent occiput, narrow forehead, downward slanting palpebral fissures, small nose and chin, cardiac malformations, hypoplastic male extrenal genitalia, growth retardation, and mental deficiency with seizures and EEG abnormalities",
                "Miller-Dieker lissencephaly syndrome"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "chromosome": "17",
            "grch37_coordinates": null,
            "grch38_coordinates": [
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                2685615
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            "tags": []
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}