GET /api/v1/panels/179/?format=api
HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
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{
    "id": 179,
    "hash_id": "5763f35c8f620350a22bccdf",
    "name": "Hydrocephalus",
    "disease_group": "",
    "disease_sub_group": "",
    "status": "public",
    "version": "4.4",
    "version_created": "2024-02-26T12:23:29.243504Z",
    "relevant_disorders": [
        "Hydrocephalus",
        "R86"
    ],
    "stats": {
        "number_of_genes": 108,
        "number_of_strs": 0,
        "number_of_regions": 0
    },
    "types": [
        {
            "name": "Rare Disease 100K",
            "slug": "rare-disease-100k",
            "description": "Rare Disease 100K"
        },
        {
            "name": "GMS Rare Disease Virtual",
            "slug": "gms-rare-disease-virtual",
            "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
        },
        {
            "name": "GMS signed-off",
            "slug": "gms-signed-off",
            "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
        }
    ],
    "genes": [
        {
            "gene_data": {
                "alias": [
                    "PKBG",
                    "RAC-gamma",
                    "PRKBG"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:393",
                "gene_name": "AKT serine/threonine kinase 3",
                "omim_gene": [
                    "611223"
                ],
                "alias_name": [
                    "protein kinase B, gamma"
                ],
                "gene_symbol": "AKT3",
                "hgnc_symbol": "AKT3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:243651535-244014381",
                            "ensembl_id": "ENSG00000117020"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:243488233-243851079",
                            "ensembl_id": "ENSG00000117020"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-11-16"
            },
            "entity_type": "gene",
            "entity_name": "AKT3",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "22729224",
                "23745724",
                "22500628",
                "22729223"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [
                "mosaicism",
                "somatic"
            ],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "SIGMA1B"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:560",
                "gene_name": "adaptor related protein complex 1 sigma 2 subunit",
                "omim_gene": [
                    "300629"
                ],
                "alias_name": null,
                "gene_symbol": "AP1S2",
                "hgnc_symbol": "AP1S2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:15843929-15873054",
                            "ensembl_id": "ENSG00000182287"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:15825806-15854931",
                            "ensembl_id": "ENSG00000182287"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-09-01"
            },
            "entity_type": "gene",
            "entity_name": "AP1S2",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "17186471",
                "17617514",
                "18428203",
                "23756445",
                "30383884",
                "30714330"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Pettigrew syndrome, OMIM:304340"
            ],
            "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": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:714",
                "gene_name": "arylsulfatase B",
                "omim_gene": [
                    "611542"
                ],
                "alias_name": null,
                "gene_symbol": "ARSB",
                "hgnc_symbol": "ARSB",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:78073032-78281910",
                            "ensembl_id": "ENSG00000113273"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:78777209-78986087",
                            "ensembl_id": "ENSG00000113273"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "ARSB",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "11668612",
                "1301949",
                "9514506"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Mucopolysaccharidosis type VI (Maroteaux-Lamy), OMIM:253200"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "MGC39558"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:28596",
                "gene_name": "beta-1,3-N-acetylgalactosaminyltransferase 2",
                "omim_gene": [
                    "610194"
                ],
                "alias_name": null,
                "gene_symbol": "B3GALNT2",
                "hgnc_symbol": "B3GALNT2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:235613238-235667781",
                            "ensembl_id": "ENSG00000162885"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:235449923-235504481",
                            "ensembl_id": "ENSG00000162885"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-02-10"
            },
            "entity_type": "gene",
            "entity_name": "B3GALNT2",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "23453667"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Other"
            ],
            "phenotypes": [
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, OMIM:615181"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "B3GTL",
                    "B3Glc-T"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:20207",
                "gene_name": "beta 3-glucosyltransferase",
                "omim_gene": [
                    "610308"
                ],
                "alias_name": [
                    "beta-1,3-glucosyltransferase"
                ],
                "gene_symbol": "B3GLCT",
                "hgnc_symbol": "B3GLCT",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "13:31774073-31906413",
                            "ensembl_id": "ENSG00000187676"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "13:31199936-31332276",
                            "ensembl_id": "ENSG00000187676"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2015-06-04"
            },
            "entity_type": "gene",
            "entity_name": "B3GLCT",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "18798333",
                "16909395"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Peters-plus syndrome, OMIM:261540"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "iGNT",
                    "iGAT",
                    "iGnT",
                    "BETA3GNTI",
                    "B3GN-T1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:15685",
                "gene_name": "beta-1,4-glucuronyltransferase 1",
                "omim_gene": [
                    "605517"
                ],
                "alias_name": [
                    "N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase"
                ],
                "gene_symbol": "B4GAT1",
                "hgnc_symbol": "B4GAT1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:66112843-66115163",
                            "ensembl_id": "ENSG00000174684"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:66345372-66347692",
                            "ensembl_id": "ENSG00000174684"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2014-12-17"
            },
            "entity_type": "gene",
            "entity_name": "B4GAT1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": null,
            "publications": [
                "23359570",
                "23877401",
                "23217742"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, OMIM:615287"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "BUBR1",
                    "MAD3L",
                    "Bub1A",
                    "SSK1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1149",
                "gene_name": "BUB1 mitotic checkpoint serine/threonine kinase B",
                "omim_gene": [
                    "602860"
                ],
                "alias_name": null,
                "gene_symbol": "BUB1B",
                "hgnc_symbol": "BUB1B",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:40453224-40513337",
                            "ensembl_id": "ENSG00000156970"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:40161023-40221136",
                            "ensembl_id": "ENSG00000156970"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-03-25"
            },
            "entity_type": "gene",
            "entity_name": "BUB1B",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "15475955"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Mosaic variegated aneuploidy syndrome 1, OMIM:257300"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "KIAA1345",
                    "MKS6",
                    "JBTS9"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29253",
                "gene_name": "coiled-coil and C2 domain containing 2A",
                "omim_gene": [
                    "612013"
                ],
                "alias_name": [
                    "Meckel syndrome, type 6"
                ],
                "gene_symbol": "CC2D2A",
                "hgnc_symbol": "CC2D2A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:15471489-15603180",
                            "ensembl_id": "ENSG00000048342"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:15469865-15601557",
                            "ensembl_id": "ENSG00000048342"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-10-19"
            },
            "entity_type": "gene",
            "entity_name": "CC2D2A",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": null,
            "publications": [
                "22241855"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Joubert syndrome 9, OMIM:612285"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "DAPLE",
                    "HkRP2",
                    "SCA40"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:19967",
                "gene_name": "coiled-coil domain containing 88C",
                "omim_gene": [
                    "611204"
                ],
                "alias_name": [
                    "Dvl-associating protein with a high frequency of leucine residues",
                    "spinocerebellar ataxia 40"
                ],
                "gene_symbol": "CCDC88C",
                "hgnc_symbol": "CCDC88C",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:91737667-91884188",
                            "ensembl_id": "ENSG00000015133"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "14:91271323-91417844",
                            "ensembl_id": "ENSG00000015133"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-05-31"
            },
            "entity_type": "gene",
            "entity_name": "CCDC88C",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "21031079",
                "23042809"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Hydrocephalus, nonsyndromic, autosomal recessive, OMIM:236600"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1583",
                "gene_name": "cyclin D2",
                "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"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:4273772-4305350",
                            "ensembl_id": "ENSG00000118971"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-12-10"
            },
            "entity_type": "gene",
            "entity_name": "CCND2",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "24705253"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, OMIM:615938"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "hcp-1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1857",
                "gene_name": "centromere protein F",
                "omim_gene": [
                    "600236"
                ],
                "alias_name": [
                    "mitosin"
                ],
                "gene_symbol": "CENPF",
                "hgnc_symbol": "CENPF",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:214776538-214837931",
                            "ensembl_id": "ENSG00000117724"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:214603195-214664588",
                            "ensembl_id": "ENSG00000117724"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-07-04"
            },
            "entity_type": "gene",
            "entity_name": "CENPF",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "26820108",
                "25564561"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Stromme syndrome, OMIM:243605"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "NY-REN-58",
                    "NPHP18"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17966",
                "gene_name": "centrosomal protein 83",
                "omim_gene": [
                    "615847"
                ],
                "alias_name": null,
                "gene_symbol": "CEP83",
                "hgnc_symbol": "CEP83",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:94700225-94853764",
                            "ensembl_id": "ENSG00000173588"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:94306449-94459988",
                            "ensembl_id": "ENSG00000173588"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2014-03-06"
            },
            "entity_type": "gene",
            "entity_name": "CEP83",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "24882706"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Nephronophthisis 18, OMIM:615862"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "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": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "13:110801318-110959496",
                            "ensembl_id": "ENSG00000187498"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "13:110148963-110307149",
                            "ensembl_id": "ENSG00000187498"
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                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "COL4A1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "23225343"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Brain small vessel disease with or without ocular anomalies, OMIM:175780"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ38464",
                    "FLJ16786"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:18688",
                "gene_name": "crumbs 2, cell polarity complex component",
                "omim_gene": [
                    "609720"
                ],
                "alias_name": null,
                "gene_symbol": "CRB2",
                "hgnc_symbol": "CRB2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:126118449-126142603",
                            "ensembl_id": "ENSG00000148204"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:123356170-123380324",
                            "ensembl_id": "ENSG00000148204"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-03-19"
            },
            "entity_type": "gene",
            "entity_name": "CRB2",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "25557780"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Ventriculomegaly with cystic kidney disease, OMIM:219730"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
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                    "156DAG",
                    "AGRNR",
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                "omim_gene": [
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                    "alpha-dystroglycan",
                    "dystrophin-associated glycoprotein-1",
                    "beta-dystroglycan"
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                "hgnc_symbol": "DAG1",
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                "hgnc_date_symbol_changed": "1997-07-22"
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            "entity_type": "gene",
            "entity_name": "DAG1",
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                "NHS GMS",
                "Expert Review Green",
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        },
        {
            "gene_data": {
                "alias": [
                    "KIAA1091",
                    "FLJ22354",
                    "FLJ33829",
                    "FLJ43455"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:19344",
                "gene_name": "DENN domain containing 5A",
                "omim_gene": [
                    "617278"
                ],
                "alias_name": null,
                "gene_symbol": "DENND5A",
                "hgnc_symbol": "DENND5A",
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                "ensembl_genes": {
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                            "location": "11:9160372-9286937",
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                            "location": "11:9138825-9265390",
                            "ensembl_id": "ENSG00000184014"
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                    }
                },
                "hgnc_date_symbol_changed": "2008-08-14"
            },
            "entity_type": "gene",
            "entity_name": "DENND5A",
            "confidence_level": "3",
            "penetrance": "Complete",
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                "27866705",
                "27431290"
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                "NHS GMS",
                "Expert Review Green",
                "Literature"
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                "Epileptic encephalopathy, early infantile, 49, OMIM:617281"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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        },
        {
            "gene_data": {
                "alias": [
                    "KIAA0018",
                    "seladin-1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2859",
                "gene_name": "24-dehydrocholesterol reductase",
                "omim_gene": [
                    "606418"
                ],
                "alias_name": null,
                "gene_symbol": "DHCR24",
                "hgnc_symbol": "DHCR24",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "1:55315306-55352891",
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                    },
                    "GRch38": {
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                            "location": "1:54849633-54887218",
                            "ensembl_id": "ENSG00000116133"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-04-27"
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            "entity_type": "gene",
            "entity_name": "DHCR24",
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                "11519011",
                "21559050"
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                "Expert Review Green",
                "Literature"
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                "Desmosterolosis, OMIM:602398"
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            "tags": [],
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        },
        {
            "gene_data": {
                "alias": [
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                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3214",
                "gene_name": "eukaryotic translation elongation factor 2",
                "omim_gene": [
                    "130610"
                ],
                "alias_name": [
                    "polypeptidyl-tRNA translocase"
                ],
                "gene_symbol": "EEF2",
                "hgnc_symbol": "EEF2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:3976054-3985467",
                            "ensembl_id": "ENSG00000167658"
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                    },
                    "GRch38": {
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                            "location": "19:3976056-3985469",
                            "ensembl_id": "ENSG00000167658"
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                    }
                },
                "hgnc_date_symbol_changed": "1991-03-11"
            },
            "entity_type": "gene",
            "entity_name": "EEF2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "33355653"
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            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "hydrocephaly"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "EMAP",
                    "HuEMAP",
                    "ELP79"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3330",
                "gene_name": "echinoderm microtubule associated protein like 1",
                "omim_gene": [
                    "602033"
                ],
                "alias_name": null,
                "gene_symbol": "EML1",
                "hgnc_symbol": "EML1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "14:100204030-100408397",
                            "ensembl_id": "ENSG00000066629"
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                    },
                    "GRch38": {
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                            "location": "14:99737693-99942060",
                            "ensembl_id": "ENSG00000066629"
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                    }
                },
                "hgnc_date_symbol_changed": "2002-02-15"
            },
            "entity_type": "gene",
            "entity_name": "EML1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
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                "24859200",
                "28556411"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Band heterotopia, OMIM:600348"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
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        },
        {
            "gene_data": {
                "alias": [
                    "PE-2",
                    "PE2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3444",
                "gene_name": "ETS2 repressor factor",
                "omim_gene": [
                    "611888"
                ],
                "alias_name": null,
                "gene_symbol": "ERF",
                "hgnc_symbol": "ERF",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "19:42751724-42759309",
                            "ensembl_id": "ENSG00000105722"
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                    },
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                            "location": "19:42247572-42255157",
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                    }
                },
                "hgnc_date_symbol_changed": "1998-07-17"
            },
            "entity_type": "gene",
            "entity_name": "ERF",
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            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "23354439"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Craniosynostosis 4, OMIM:600775"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [
                "to_be_confirmed_NHSE"
            ],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "IMAGE:4942737",
                    "DKFZp547D065",
                    "DMP4",
                    "G-CK"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:22140",
                "gene_name": "FAM20C, golgi associated secretory pathway kinase",
                "omim_gene": [
                    "611061"
                ],
                "alias_name": [
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                    "golgi casein kinase"
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                "gene_symbol": "FAM20C",
                "hgnc_symbol": "FAM20C",
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                            "location": "7:192969-300711",
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                    },
                    "GRch38": {
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                            "location": "7:192969-260745",
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                    }
                },
                "hgnc_date_symbol_changed": "2003-09-03"
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            "entity_type": "gene",
            "entity_name": "FAM20C",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
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                "19250384",
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            "evidence": [
                "NHS GMS",
                "Expert Review Green",
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            "phenotypes": [
                "Raine syndrome, OMIM:259775"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FAB",
                    "FLJ34064",
                    "FAAP95"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3583",
                "gene_name": "Fanconi anemia complementation group B",
                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "FANCB",
                "hgnc_symbol": "FANCB",
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                            "location": "X:14861529-14891191",
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                    "GRch38": {
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                    }
                },
                "hgnc_date_symbol_changed": "1998-08-26"
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            "entity_type": "gene",
            "entity_name": "FANCB",
            "confidence_level": "3",
            "penetrance": "Complete",
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                "21910217",
                "15502827"
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            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services"
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            "phenotypes": [
                "Vacterl Association, X-Linked, With Or Without Hydrocephalus, MONDO:0010752",
                "Fanconi anemia, complementation group B, OMIM:300514"
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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": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "H2",
                    "H3",
                    "H4",
                    "H5",
                    "CEK",
                    "FLG",
                    "BFGFR",
                    "N-SAM",
                    "CD331"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3688",
                "gene_name": "fibroblast growth factor receptor 1",
                "omim_gene": [
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                "hgnc_symbol": "FGFR1",
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                "ensembl_genes": {
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                "hgnc_date_symbol_changed": "1992-02-25"
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            "entity_type": "gene",
            "entity_name": "FGFR1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "Other - please provide details in the comments",
            "publications": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Pfeiffer syndrome, OMIM:101600"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CEK3",
                    "TK14",
                    "TK25",
                    "ECT1",
                    "K-SAM",
                    "CD332"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3689",
                "gene_name": "fibroblast growth factor receptor 2",
                "omim_gene": [
                    "176943"
                ],
                "alias_name": [
                    "Crouzon syndrome",
                    "Pfeiffer syndrome"
                ],
                "gene_symbol": "FGFR2",
                "hgnc_symbol": "FGFR2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:123237848-123357972",
                            "ensembl_id": "ENSG00000066468"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "10:121478334-121598458",
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                    }
                },
                "hgnc_date_symbol_changed": "1991-05-09"
            },
            "entity_type": "gene",
            "entity_name": "FGFR2",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "16691624",
                "7719344"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Apert syndrome, OMIM:101200",
                "Crouzon syndrome, OMIM:123500"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CEK2",
                    "JTK4",
                    "CD333"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3690",
                "gene_name": "fibroblast growth factor receptor 3",
                "omim_gene": [
                    "134934"
                ],
                "alias_name": null,
                "gene_symbol": "FGFR3",
                "hgnc_symbol": "FGFR3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:1795034-1810599",
                            "ensembl_id": "ENSG00000068078"
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                    },
                    "GRch38": {
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                            "location": "4:1793307-1808872",
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                    }
                },
                "hgnc_date_symbol_changed": "1991-06-07"
            },
            "entity_type": "gene",
            "entity_name": "FGFR3",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "8078586"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Achondroplasia, OMIM:100800",
                "Thanatophoric dysplasia, OMIM:187600",
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                "Muenke syndrome, OMIM:602849"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "LGMD2I",
                    "MDC1C"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17997",
                "gene_name": "fukutin related protein",
                "omim_gene": [
                    "606596"
                ],
                "alias_name": null,
                "gene_symbol": "FKRP",
                "hgnc_symbol": "FKRP",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "19:47249303-47280245",
                            "ensembl_id": "ENSG00000181027"
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                    },
                    "GRch38": {
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                            "location": "19:46746046-46776988",
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                "hgnc_date_symbol_changed": "2003-12-04"
            },
            "entity_type": "gene",
            "entity_name": "FKRP",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "15121789",
                "20236121"
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            "evidence": [
                "NHS GMS",
                "Expert Review Green",
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            "phenotypes": [
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, OMIM:613153"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "LGMD2M"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3622",
                "gene_name": "fukutin",
                "omim_gene": [
                    "607440"
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                "alias_name": null,
                "gene_symbol": "FKTN",
                "hgnc_symbol": "FKTN",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "9:108320411-108403399",
                            "ensembl_id": "ENSG00000106692"
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                    }
                },
                "hgnc_date_symbol_changed": "2007-11-21"
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            "entity_type": "gene",
            "entity_name": "FKTN",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "9690476",
                "10545611",
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                "18177472"
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            "evidence": [
                "NHS GMS",
                "Expert Review Green",
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            "phenotypes": [
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, OMIM:253800"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ20371",
                    "MFSD7C"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:20105",
                "gene_name": "feline leukemia virus subgroup C cellular receptor family member 2",
                "omim_gene": [
                    "610865"
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                "alias_name": null,
                "gene_symbol": "FLVCR2",
                "hgnc_symbol": "FLVCR2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "14:76044960-76129557",
                            "ensembl_id": "ENSG00000119686"
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                    },
                    "GRch38": {
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                            "ensembl_id": "ENSG00000119686"
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                },
                "hgnc_date_symbol_changed": "2007-05-01"
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            "entity_type": "gene",
            "entity_name": "FLVCR2",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "20206334"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
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            "phenotypes": [
                "Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, OMIM:225790"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ45472"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4235",
                "gene_name": "glial fibrillary acidic protein",
                "omim_gene": [
                    "137780"
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                "alias_name": [
                    "intermediate filament protein"
                ],
                "gene_symbol": "GFAP",
                "hgnc_symbol": "GFAP",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                        "82": {
                            "location": "17:42982376-42994305",
                            "ensembl_id": "ENSG00000131095"
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                    },
                    "GRch38": {
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                            "location": "17:44903161-44916937",
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                },
                "hgnc_date_symbol_changed": "1989-12-07"
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            "entity_type": "gene",
            "entity_name": "GFAP",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "12034785"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Alexander disease, OMIM:203450"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "PAP-A",
                    "PAPA",
                    "PAPA1",
                    "PAPB",
                    "ACLS",
                    "PPDIV"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4319",
                "gene_name": "GLI family zinc finger 3",
                "omim_gene": [
                    "165240"
                ],
                "alias_name": [
                    "zinc finger protein GLI3",
                    "oncogene GLI3",
                    "DNA-binding protein"
                ],
                "gene_symbol": "GLI3",
                "hgnc_symbol": "GLI3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:42000548-42277469",
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                    },
                    "GRch38": {
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                            "location": "7:41960950-42237870",
                            "ensembl_id": "ENSG00000106571"
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                    }
                },
                "hgnc_date_symbol_changed": "1989-05-29"
            },
            "entity_type": "gene",
            "entity_name": "GLI3",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "24736735"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Greig cephalopolysyndactyly syndrome, OMIM:175700"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "LGN",
                    "Pins"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29501",
                "gene_name": "G protein signaling modulator 2",
                "omim_gene": [
                    "609245"
                ],
                "alias_name": null,
                "gene_symbol": "GPSM2",
                "hgnc_symbol": "GPSM2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:109417972-109477167",
                            "ensembl_id": "ENSG00000121957"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:108875350-108934545",
                            "ensembl_id": "ENSG00000121957"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-02-03"
            },
            "entity_type": "gene",
            "entity_name": "GPSM2",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "22578326"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Chudley-McCullough syndrome, OMIM:604213"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4696",
                "gene_name": "glucuronidase beta",
                "omim_gene": [
                    "611499"
                ],
                "alias_name": null,
                "gene_symbol": "GUSB",
                "hgnc_symbol": "GUSB",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "7:65425671-65447301",
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                    },
                    "GRch38": {
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                            "location": "7:65960684-65982314",
                            "ensembl_id": "ENSG00000169919"
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                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "GUSB",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "12403825",
                "12522561"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Mucopolysaccharidosis VII, OMIM:253220"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ32915"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26558",
                "gene_name": "HYLS1, centriolar and ciliogenesis associated",
                "omim_gene": [
                    "610693"
                ],
                "alias_name": null,
                "gene_symbol": "HYLS1",
                "hgnc_symbol": "HYLS1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "11:125753509-125770543",
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                    },
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                            "ensembl_id": "ENSG00000198331"
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                    }
                },
                "hgnc_date_symbol_changed": "2005-05-04"
            },
            "entity_type": "gene",
            "entity_name": "HYLS1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "Other - please provide details in the comments",
            "publications": [
                "15843405",
                "18648327",
                "19400947",
                "19656802",
                "32509774"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Hydrolethalus syndrome, OMIM:236680"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "to_be_confirmed_NHSE",
                "founder-effect"
            ],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:5389",
                "gene_name": "iduronate 2-sulfatase",
                "omim_gene": [
                    "300823"
                ],
                "alias_name": [
                    "Hunter syndrome"
                ],
                "gene_symbol": "IDS",
                "hgnc_symbol": "IDS",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:148558521-148615470",
                            "ensembl_id": "ENSG00000010404"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:149476990-149521096",
                            "ensembl_id": "ENSG00000010404"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "IDS",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Mucopolysaccharidosis II, OMIM:309900"
            ],
            "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": [
                    "hCG_1745121",
                    "IspD",
                    "Nip"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:37276",
                "gene_name": "isoprenoid synthase domain containing",
                "omim_gene": [
                    "614631"
                ],
                "alias_name": [
                    "notch1-induced protein",
                    "4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis)"
                ],
                "gene_symbol": "ISPD",
                "hgnc_symbol": "ISPD",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "7:16130817-16460947",
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                    },
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                    }
                },
                "hgnc_date_symbol_changed": "2009-10-02"
            },
            "entity_type": "gene",
            "entity_name": "ISPD",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "22522420"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, OMIM:614643"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "new-gene-name"
            ],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "Talpid3",
                    "JBTS23"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:19960",
                "gene_name": "KIAA0586",
                "omim_gene": [
                    "610178"
                ],
                "alias_name": null,
                "gene_symbol": "KIAA0586",
                "hgnc_symbol": "KIAA0586",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:58894103-59015216",
                            "ensembl_id": "ENSG00000100578"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "14:58427385-58551289",
                            "ensembl_id": "ENSG00000100578"
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                    }
                },
                "hgnc_date_symbol_changed": "2003-11-21"
            },
            "entity_type": "gene",
            "entity_name": "KIAA0586",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "26166481"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Short-rib thoracic dysplasia 14 with polydactyly, OMIM:616546"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ21404",
                    "FSA",
                    "KIAA1371",
                    "Tweek"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26953",
                "gene_name": "KIAA1109",
                "omim_gene": [
                    "611565"
                ],
                "alias_name": [
                    "fragile site-associated"
                ],
                "gene_symbol": "KIAA1109",
                "hgnc_symbol": "KIAA1109",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:123073488-123283913",
                            "ensembl_id": "ENSG00000138688"
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                    },
                    "GRch38": {
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                            "location": "4:122152333-122362758",
                            "ensembl_id": "ENSG00000138688"
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                    }
                },
                "hgnc_date_symbol_changed": "2004-07-29"
            },
            "entity_type": "gene",
            "entity_name": "KIAA1109",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "25558065",
                "29290337"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Alkuraya-Kucinskas syndrome, OMIM:617822"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "new-gene-name"
            ],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "ARMS"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29508",
                "gene_name": "kinase D interacting substrate 220",
                "omim_gene": [
                    "615759"
                ],
                "alias_name": [
                    "ankyrin repeat-rich membrane-spanning protein"
                ],
                "gene_symbol": "KIDINS220",
                "hgnc_symbol": "KIDINS220",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "2:8865408-8977760",
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                    },
                    "GRch38": {
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                            "ensembl_id": "ENSG00000134313"
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                    }
                },
                "hgnc_date_symbol_changed": "2008-11-25"
            },
            "entity_type": "gene",
            "entity_name": "KIDINS220",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "32909676",
                "33205811",
                "28934391",
                "22048169"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Ventriculomegaly and arthrogryposis, OMIM:619501"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "CD171"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6470",
                "gene_name": "L1 cell adhesion molecule",
                "omim_gene": [
                    "308840"
                ],
                "alias_name": [
                    "neural cell adhesion molecule L1"
                ],
                "gene_symbol": "L1CAM",
                "hgnc_symbol": "L1CAM",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:153126969-153174677",
                            "ensembl_id": "ENSG00000198910"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "X:153861514-153909223",
                            "ensembl_id": "ENSG00000198910"
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                    }
                },
                "hgnc_date_symbol_changed": "1989-06-30"
            },
            "entity_type": "gene",
            "entity_name": "L1CAM",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "8947027",
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            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "UKGTN",
                "Emory Genetics Laboratory",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Corpus callosum, partial agenesis of, OMIM:304100",
                "CRASH syndrome, OMIM:303350",
                "Hydrocephalus due to aqueductal stenosis, OMIM:307000",
                "Hydrocephalus with congential idiopathic intestinal pseudoobstruction, OMIM:307000",
                "Hydrocephalus with Hirschsprung disease, OMIM:307000",
                "MASA syndrome, OMIM:303350"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6486",
                "gene_name": "laminin subunit beta 1",
                "omim_gene": [
                    "150240"
                ],
                "alias_name": null,
                "gene_symbol": "LAMB1",
                "hgnc_symbol": "LAMB1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:107564244-107643700",
                            "ensembl_id": "ENSG00000091136"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "7:107923799-108003255",
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                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "LAMB1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "23472759",
                "25925986"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
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            ],
            "phenotypes": [
                "Lissencephaly 5, OMIM:615191"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "KIAA0609"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6511",
                "gene_name": "LARGE xylosyl- and glucuronyltransferase 1",
                "omim_gene": [
                    "603590"
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                "alias_name": [
                    "like-acetylglucosaminyltransferase"
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                "hgnc_symbol": "LARGE1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "22:33558212-34318829",
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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": [
                "19067344",
                "19299310",
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            "evidence": [
                "NHS GMS",
                "Expert Review Green",
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            "phenotypes": [
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, OMIM:613154"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "LAMAN"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6826",
                "gene_name": "mannosidase alpha class 2B member 1",
                "omim_gene": [
                    "609458"
                ],
                "alias_name": null,
                "gene_symbol": "MAN2B1",
                "hgnc_symbol": "MAN2B1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "MAN2B1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "9915946"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Illumina TruGenome Clinical Sequencing Services",
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            "phenotypes": [
                "Mannosidosis, alpha-, types I and II, OMIM:248500"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "MUPP1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7208",
                "gene_name": "multiple PDZ domain crumbs cell polarity complex component",
                "omim_gene": [
                    "603785"
                ],
                "alias_name": null,
                "gene_symbol": "MPDZ",
                "hgnc_symbol": "MPDZ",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:13105703-13279589",
                            "ensembl_id": "ENSG00000107186"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "9:13105704-13279590",
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                    }
                },
                "hgnc_date_symbol_changed": "1998-12-16"
            },
            "entity_type": "gene",
            "entity_name": "MPDZ",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "23240096",
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            "phenotypes": [
                "Hydrocephalus, congenital, 2, with or without brain or eye anomalies, OMIM:615219"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
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                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:33778",
                "gene_name": "myomaker, myoblast fusion factor",
                "omim_gene": [
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                "alias_name": [
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                "gene_symbol": "MYMK",
                "hgnc_symbol": "MYMK",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "9:136379708-136393734",
                            "ensembl_id": "ENSG00000187616"
                        }
                    },
                    "GRch38": {
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                            "location": "9:133514586-133528612",
                            "ensembl_id": "ENSG00000187616"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2017-05-11"
            },
            "entity_type": "gene",
            "entity_name": "MYMK",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "28681861"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Carey-Fineman-Ziter syndrome, OMIM:254940",
                "Carey-Fineman-Ziter syndrome, MONDO:0009700"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "to_be_confirmed_NHSE"
            ],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7765",
                "gene_name": "neurofibromin 1",
                "omim_gene": [
                    "613113"
                ],
                "alias_name": [
                    "neurofibromatosis",
                    "von Recklinghausen disease",
                    "Watson disease"
                ],
                "gene_symbol": "NF1",
                "hgnc_symbol": "NF1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:29421945-29709134",
                            "ensembl_id": "ENSG00000196712"
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                    },
                    "GRch38": {
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                            "location": "17:31094927-31382116",
                            "ensembl_id": "ENSG00000196712"
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                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "NF1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "10588837"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Neurofibromatosis, type 1, OMIM:162200"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "ARA267",
                    "FLJ22263",
                    "KMT3B"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14234",
                "gene_name": "nuclear receptor binding SET domain protein 1",
                "omim_gene": [
                    "606681"
                ],
                "alias_name": null,
                "gene_symbol": "NSD1",
                "hgnc_symbol": "NSD1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:176560026-176727216",
                            "ensembl_id": "ENSG00000165671"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:177133025-177300215",
                            "ensembl_id": "ENSG00000165671"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-02-25"
            },
            "entity_type": "gene",
            "entity_name": "NSD1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Sotos syndrome 1, OMIM:117550"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "HSPC019",
                    "GL"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21652",
                "gene_name": "osteopetrosis associated transmembrane protein 1",
                "omim_gene": [
                    "607649"
                ],
                "alias_name": [
                    "CLCN7 accessory beta subunit"
                ],
                "gene_symbol": "OSTM1",
                "hgnc_symbol": "OSTM1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:108362613-108487058",
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                    },
                    "GRch38": {
                        "90": {
                            "location": "6:108041409-108165854",
                            "ensembl_id": "ENSG00000081087"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-10-06"
            },
            "entity_type": "gene",
            "entity_name": "OSTM1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Osteopetrosis, autosomal recessive 5, OMIM:259720"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "PI3K"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8975",
                "gene_name": "phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",
                "omim_gene": [
                    "171834"
                ],
                "alias_name": null,
                "gene_symbol": "PIK3CA",
                "hgnc_symbol": "PIK3CA",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:178865902-178957881",
                            "ensembl_id": "ENSG00000121879"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "3:179148114-179240093",
                            "ensembl_id": "ENSG00000121879"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-07-15"
            },
            "entity_type": "gene",
            "entity_name": "PIK3CA",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "22729224"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, OMIM:602501"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [
                "somatic"
            ],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "P85B",
                    "p85"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8980",
                "gene_name": "phosphoinositide-3-kinase regulatory subunit 2",
                "omim_gene": [
                    "603157"
                ],
                "alias_name": [
                    "phosphoinositide-3-kinase regulatory subunit beta"
                ],
                "gene_symbol": "PIK3R2",
                "hgnc_symbol": "PIK3R2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:18263928-18281350",
                            "ensembl_id": "ENSG00000105647"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:18153118-18170540",
                            "ensembl_id": "ENSG00000105647"
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                    }
                },
                "hgnc_date_symbol_changed": "1992-12-08"
            },
            "entity_type": "gene",
            "entity_name": "PIK3R2",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "Other - please provide details in the comments",
            "publications": [
                "22729224",
                "23745724"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9071",
                "gene_name": "plasminogen",
                "omim_gene": [
                    "173350"
                ],
                "alias_name": null,
                "gene_symbol": "PLG",
                "hgnc_symbol": "PLG",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:161123270-161174347",
                            "ensembl_id": "ENSG00000122194"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "6:160702238-160753315",
                            "ensembl_id": "ENSG00000122194"
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                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "PLG",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "16849641",
                "9242524",
                "10233898"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Plasminogen deficiency, type I, OMIM:217090",
                "Dysplasminogenemia, OMIM:217090"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ20277",
                    "MGAT1.2",
                    "LGMD2O"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:19139",
                "gene_name": "protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)",
                "omim_gene": [
                    "606822"
                ],
                "alias_name": [
                    "protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"
                ],
                "gene_symbol": "POMGNT1",
                "hgnc_symbol": "POMGNT1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:46654354-46685977",
                            "ensembl_id": "ENSG00000085998"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "1:46188682-46220305",
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                    }
                },
                "hgnc_date_symbol_changed": "2005-06-02"
            },
            "entity_type": "gene",
            "entity_name": "POMGNT1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "19067344"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, OMIM:253280"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ14566",
                    "AGO61"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25902",
                "gene_name": "protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)",
                "omim_gene": [
                    "614828"
                ],
                "alias_name": null,
                "gene_symbol": "POMGNT2",
                "hgnc_symbol": "POMGNT2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:43120724-43147568",
                            "ensembl_id": "ENSG00000144647"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "3:43079232-43106076",
                            "ensembl_id": "ENSG00000144647"
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                    }
                },
                "hgnc_date_symbol_changed": "2013-08-22"
            },
            "entity_type": "gene",
            "entity_name": "POMGNT2",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, OMIM:614830"
            ],
            "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": {
                        "82": {
                            "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": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "23519211",
                "24556084",
                "24556084"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, OMIM:615249"
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            "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"
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                "gene_symbol": "POMT1",
                "hgnc_symbol": "POMT1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:134378289-134399193",
                            "ensembl_id": "ENSG00000130714"
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                    },
                    "GRch38": {
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                            "ensembl_id": "ENSG00000130714"
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                },
                "hgnc_date_symbol_changed": "1999-06-25"
            },
            "entity_type": "gene",
            "entity_name": "POMT1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "12369018"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Emory Genetics Laboratory"
            ],
            "phenotypes": [
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, OMIM:236670"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "LGMD2N"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:19743",
                "gene_name": "protein O-mannosyltransferase 2",
                "omim_gene": [
                    "607439"
                ],
                "alias_name": [
                    "Dolichyl-phosphate-mannose--protein mannosyltransferase"
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                "hgnc_symbol": "POMT2",
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                "ensembl_genes": {
                    "GRch37": {
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                            "location": "14:77741299-77787227",
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            "entity_type": "gene",
            "entity_name": "POMT2",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "15894594",
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                "17878207"
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                "NHS GMS",
                "Expert Review Green",
                "Emory Genetics Laboratory"
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                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "B56D",
                    "B56delta"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9312",
                "gene_name": "protein phosphatase 2 regulatory subunit B'delta",
                "omim_gene": [
                    "601646"
                ],
                "alias_name": null,
                "gene_symbol": "PPP2R5D",
                "hgnc_symbol": "PPP2R5D",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:42952237-42980080",
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                    },
                    "GRch38": {
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                },
                "hgnc_date_symbol_changed": "1996-05-08"
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            "entity_type": "gene",
            "entity_name": "PPP2R5D",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "25533962",
                "26168268",
                "25972378"
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            "evidence": [
                "NHS GMS",
                "Expert Review Green",
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            "phenotypes": [
                "Mental retardation, autosomal dominant 35, OMIM:616355"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "BCNS"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9585",
                "gene_name": "patched 1",
                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "PTCH1",
                "hgnc_symbol": "PTCH1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "9:98205262-98279339",
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                "hgnc_date_symbol_changed": "2006-09-26"
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            "entity_type": "gene",
            "entity_name": "PTCH1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "19557015"
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            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
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            "phenotypes": [
                "Basal cell nevus syndrome, OMIM:109400"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "MMAC1",
                    "TEP1",
                    "PTEN1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9588",
                "gene_name": "phosphatase and tensin homolog",
                "omim_gene": [
                    "601728"
                ],
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                "hgnc_symbol": "PTEN",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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            "entity_type": "gene",
            "entity_name": "PTEN",
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            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "15805158",
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                "NHS GMS",
                "Expert Review Green",
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                "Macrocephaly/autism syndrome, OMIM:605309"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
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            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ20456"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21150",
                "gene_name": "ring finger protein 125",
                "omim_gene": [
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                ],
                "alias_name": null,
                "gene_symbol": "RNF125",
                "hgnc_symbol": "RNF125",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "18:29598335-29653176",
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                    },
                    "GRch38": {
                        "90": {
                            "location": "18:32018372-32073213",
                            "ensembl_id": "ENSG00000101695"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-05-21"
            },
            "entity_type": "gene",
            "entity_name": "RNF125",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "25196541"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Tenorio syndrome, OMIM:616260"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "RSK",
                    "RSK2",
                    "HU-3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10432",
                "gene_name": "ribosomal protein S6 kinase A3",
                "omim_gene": [
                    "300075"
                ],
                "alias_name": null,
                "gene_symbol": "RPS6KA3",
                "hgnc_symbol": "RPS6KA3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:20168029-20285523",
                            "ensembl_id": "ENSG00000177189"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:20149911-20267100",
                            "ensembl_id": "ENSG00000177189"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-07-11"
            },
            "entity_type": "gene",
            "entity_name": "RPS6KA3",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "8955270",
                "16879200"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Coffin-Lowry syndrome, OMIM:303600"
            ],
            "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": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10896",
                "gene_name": "SKI proto-oncogene",
                "omim_gene": [
                    "164780"
                ],
                "alias_name": null,
                "gene_symbol": "SKI",
                "hgnc_symbol": "SKI",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:2160134-2241558",
                            "ensembl_id": "ENSG00000157933"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "1:2228695-2310119",
                            "ensembl_id": "ENSG00000157933"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "SKI",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "23023332"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Shprintzen-Goldberg syndrome, OMIM:182212"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "BAF155",
                    "SRG3",
                    "Rsc8",
                    "CRACC1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11104",
                "gene_name": "SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1",
                "omim_gene": [
                    "601732"
                ],
                "alias_name": null,
                "gene_symbol": "SMARCC1",
                "hgnc_symbol": "SMARCC1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:47626762-47823596",
                            "ensembl_id": "ENSG00000173473"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:47585272-47782106",
                            "ensembl_id": "ENSG00000173473"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-05-15"
            },
            "entity_type": "gene",
            "entity_name": "SMARCC1",
            "confidence_level": "3",
            "penetrance": "Incomplete",
            "mode_of_pathogenicity": null,
            "publications": [
                "24170322",
                "29983323",
                "32732226",
                "33077954"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Congenital hydrocephalus",
                "Aqueductal stenosis",
                "Septal agenesis",
                "Corpus callosum abnormalities",
                "{Hydrocephalus, congenital, 5, susceptibility to}, OMIM:620241"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14974",
                "gene_name": "sorting nexin 10",
                "omim_gene": [
                    "614780"
                ],
                "alias_name": null,
                "gene_symbol": "SNX10",
                "hgnc_symbol": "SNX10",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:26331541-26413949",
                            "ensembl_id": "ENSG00000086300"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:26291895-26374329",
                            "ensembl_id": "ENSG00000086300"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-04-10"
            },
            "entity_type": "gene",
            "entity_name": "SNX10",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "22499339",
                "23123320"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Osteopetrosis, autosomal recessive 8, OMIM:615085"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "NY-BR-96",
                    "LYK5",
                    "Stlk",
                    "STRAD"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:30172",
                "gene_name": "STE20-related kinase adaptor alpha",
                "omim_gene": [
                    "608626"
                ],
                "alias_name": [
                    "STE20-like pseudokinase"
                ],
                "gene_symbol": "STRADA",
                "hgnc_symbol": "STRADA",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:61780192-61819330",
                            "ensembl_id": "ENSG00000266173"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:63682336-63741986",
                            "ensembl_id": "ENSG00000266173"
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                    }
                },
                "hgnc_date_symbol_changed": "2008-09-15"
            },
            "entity_type": "gene",
            "entity_name": "STRADA",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "27170158",
                "17522105",
                "28688840"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Other"
            ],
            "phenotypes": [
                "Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "SUFUH",
                    "SUFUXL",
                    "PRO1280"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:16466",
                "gene_name": "SUFU negative regulator of hedgehog signaling",
                "omim_gene": [
                    "607035"
                ],
                "alias_name": null,
                "gene_symbol": "SUFU",
                "hgnc_symbol": "SUFU",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:104263744-104393292",
                            "ensembl_id": "ENSG00000107882"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "10:102503987-102633535",
                            "ensembl_id": "ENSG00000107882"
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                    }
                },
                "hgnc_date_symbol_changed": "2001-08-28"
            },
            "entity_type": "gene",
            "entity_name": "SUFU",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "19533801",
                "25403219"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Basal cell nevus syndrome, OMIM:109400"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FGE",
                    "UNQ3037"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:20376",
                "gene_name": "sulfatase modifying factor 1",
                "omim_gene": [
                    "607939"
                ],
                "alias_name": null,
                "gene_symbol": "SUMF1",
                "hgnc_symbol": "SUMF1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:3742498-4508965",
                            "ensembl_id": "ENSG00000144455"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "3:3700814-4467281",
                            "ensembl_id": "ENSG00000144455"
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                    }
                },
                "hgnc_date_symbol_changed": "2004-04-30"
            },
            "entity_type": "gene",
            "entity_name": "SUMF1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "12757705",
                "12757706"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Multiple sulfatase deficiency, OMIM:272200"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "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": {
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                            "location": "6:121400640-121655891",
                            "ensembl_id": "ENSG00000146350"
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                    },
                    "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": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "Expert list"
            ],
            "phenotypes": [
                "Orofaciodigital syndrome, MONDO:0015375"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "gene-checked"
            ],
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "HEB",
                    "HTF4",
                    "HsT17266",
                    "bHLHb20"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11623",
                "gene_name": "transcription factor 12",
                "omim_gene": [
                    "600480"
                ],
                "alias_name": [
                    "helix-loop-helix transcription factor 4"
                ],
                "gene_symbol": "TCF12",
                "hgnc_symbol": "TCF12",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:57210821-57591479",
                            "ensembl_id": "ENSG00000140262"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "15:56918623-57299281",
                            "ensembl_id": "ENSG00000140262"
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                    }
                },
                "hgnc_date_symbol_changed": "1994-06-17"
            },
            "entity_type": "gene",
            "entity_name": "TCF12",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "23354436"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Craniosynostosis 3, OMIM:615314"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "TIRC7",
                    "OC-116",
                    "OC116",
                    "ATP6N1C",
                    "Atp6i",
                    "a3",
                    "ATP6V0A3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11647",
                "gene_name": "T-cell immune regulator 1, ATPase H+ transporting V0 subunit a3",
                "omim_gene": [
                    "604592"
                ],
                "alias_name": [
                    "T-cell immune response cDNA 7"
                ],
                "gene_symbol": "TCIRG1",
                "hgnc_symbol": "TCIRG1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "11:67806483-67818362",
                            "ensembl_id": "ENSG00000110719"
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                    },
                    "GRch38": {
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                            "location": "11:68039016-68050895",
                            "ensembl_id": "ENSG00000110719"
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                },
                "hgnc_date_symbol_changed": "1999-02-15"
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            "entity_type": "gene",
            "entity_name": "TCIRG1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "26970326"
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            "evidence": [
                "Expert Review Green",
                "Expert list"
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            "phenotypes": [
                "Osteopetrosis, autosomal recessive 1, OMIM:259700"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "HP10481"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13530",
                "gene_name": "transmembrane protein 5",
                "omim_gene": [
                    "605862"
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                "alias_name": null,
                "gene_symbol": "TMEM5",
                "hgnc_symbol": "TMEM5",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "12:64173583-64203338",
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                    },
                    "GRch38": {
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                "hgnc_date_symbol_changed": "2000-09-20"
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            "entity_type": "gene",
            "entity_name": "TMEM5",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "new-gene-name"
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            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "RANK",
                    "CD265",
                    "FEO"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11908",
                "gene_name": "TNF receptor superfamily member 11a",
                "omim_gene": [
                    "603499"
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                "alias_name": null,
                "gene_symbol": "TNFRSF11A",
                "hgnc_symbol": "TNFRSF11A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                },
                "hgnc_date_symbol_changed": "1998-12-04"
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            "entity_type": "gene",
            "entity_name": "TNFRSF11A",
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            "mode_of_pathogenicity": null,
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Expert list"
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                "Osteopetrosis, autosomal recessive 7, OMIM:612301"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
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        },
        {
            "gene_data": {
                "alias": [
                    "LIN41",
                    "LIN-41"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:32669",
                "gene_name": "tripartite motif containing 71",
                "omim_gene": null,
                "alias_name": null,
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                "hgnc_symbol": "TRIM71",
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                "ensembl_genes": {
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                            "location": "3:32859510-32939318",
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                "hgnc_date_symbol_changed": "2006-03-30"
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            "entity_type": "gene",
            "entity_name": "TRIM71",
            "confidence_level": "3",
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            "mode_of_pathogenicity": null,
            "publications": [
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            "evidence": [
                "Expert Review Green",
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            "phenotypes": [
                "Hydrocephalus, congenital communicating, 1, OMIM:618667"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [
                "gene-checked"
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            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "SCS",
                    "H-twist",
                    "BPES2",
                    "bHLHa38",
                    "CRS1"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12428",
                "gene_name": "twist family bHLH transcription factor 1",
                "omim_gene": [
                    "601622"
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                "alias_name": [
                    "Saethre-Chotzen syndrome"
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                "hgnc_symbol": "TWIST1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                "hgnc_date_symbol_changed": "2003-03-28"
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            "entity_type": "gene",
            "entity_name": "TWIST1",
            "confidence_level": "3",
            "penetrance": "Complete",
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            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
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            "phenotypes": [
                "Saethre-Chotzen syndrome with or without eyelid anomalies, OMIM:101400"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "DFFRX",
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12632",
                "gene_name": "ubiquitin specific peptidase 9, X-linked",
                "omim_gene": [
                    "300072"
                ],
                "alias_name": null,
                "gene_symbol": "USP9X",
                "hgnc_symbol": "USP9X",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:40944888-41095832",
                            "ensembl_id": "ENSG00000124486"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:41085635-41236579",
                            "ensembl_id": "ENSG00000124486"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-02-01"
            },
            "entity_type": "gene",
            "entity_name": "USP9X",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "26833328"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Mental retardation, X-linked 99, OMIM:300919",
                "Mental retardation, X-linked 99, syndromic, female-restricted OMIM:300968"
            ],
            "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": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:28984",
                "gene_name": "WASH complex subunit 5",
                "omim_gene": [
                    "610657"
                ],
                "alias_name": [
                    "strumpellin"
                ],
                "gene_symbol": "WASHC5",
                "hgnc_symbol": "WASHC5",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:126036502-126104082",
                            "ensembl_id": "ENSG00000164961"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "8:125024260-125091840",
                            "ensembl_id": "ENSG00000164961"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2016-10-14"
            },
            "entity_type": "gene",
            "entity_name": "WASHC5",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "24065355"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Ritscher-Schinzel syndrome 1, OMIM:220210"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "ODA-8S",
                    "DKFZp566F123",
                    "DPZF"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13503",
                "gene_name": "zinc finger and BTB domain containing 20",
                "omim_gene": [
                    "606025"
                ],
                "alias_name": null,
                "gene_symbol": "ZBTB20",
                "hgnc_symbol": "ZBTB20",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:114056941-114866118",
                            "ensembl_id": "ENSG00000181722"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:114314501-115147271",
                            "ensembl_id": "ENSG00000181722"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-07-16"
            },
            "entity_type": "gene",
            "entity_name": "ZBTB20",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "25017102"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Primrose syndrome, OMIM:259050"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "HPE5"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12873",
                "gene_name": "Zic family member 2",
                "omim_gene": [
                    "603073"
                ],
                "alias_name": [
                    "Zinc finger protein of the cerebellum 2"
                ],
                "gene_symbol": "ZIC2",
                "hgnc_symbol": "ZIC2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "13:100634026-100639018",
                            "ensembl_id": "ENSG00000043355"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "13:99981772-99986773",
                            "ensembl_id": "ENSG00000043355"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-04-27"
            },
            "entity_type": "gene",
            "entity_name": "ZIC2",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "19955556"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Holoprosencephaly 5, OMIM:609637"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "HTX",
                    "ZNF203"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12874",
                "gene_name": "Zic family member 3",
                "omim_gene": [
                    "300265"
                ],
                "alias_name": null,
                "gene_symbol": "ZIC3",
                "hgnc_symbol": "ZIC3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:136648301-136659850",
                            "ensembl_id": "ENSG00000156925"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:137566142-137577691",
                            "ensembl_id": "ENSG00000156925"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-11-16"
            },
            "entity_type": "gene",
            "entity_name": "ZIC3",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "20452998",
                "21465648"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "VACTERL association, X-linked, OMIM:314390"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "ISSX",
                    "CT121",
                    "EIEE1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:18060",
                "gene_name": "aristaless related homeobox",
                "omim_gene": [
                    "300382"
                ],
                "alias_name": [
                    "cancer/testis antigen 121"
                ],
                "gene_symbol": "ARX",
                "hgnc_symbol": "ARX",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:25021811-25034065",
                            "ensembl_id": "ENSG00000004848"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:25003694-25016420",
                            "ensembl_id": "ENSG00000004848"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-02-11"
            },
            "entity_type": "gene",
            "entity_name": "ARX",
            "confidence_level": "2",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "14722918"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Amber",
                "Literature"
            ],
            "phenotypes": [
                "Hydranencephaly with abnormal genitalia, OMIM:300215"
            ],
            "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": [
                "watchlist"
            ],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "B3GNT-2",
                    "BETA3GNT",
                    "B3GN-T2",
                    "B3GN-T1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:15629",
                "gene_name": "UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2",
                "omim_gene": [
                    "605581"
                ],
                "alias_name": null,
                "gene_symbol": "B3GNT2",
                "hgnc_symbol": "B3GNT2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:62423248-62451866",
                            "ensembl_id": "ENSG00000170340"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:62196113-62224731",
                            "ensembl_id": "ENSG00000170340"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-04-12"
            },
            "entity_type": "gene",
            "entity_name": "B3GNT2",
            "confidence_level": "2",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "23359570",
                "23877401"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Amber",
                "Other"
            ],
            "phenotypes": [
                "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13, MONDO:0014120"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "watchlist"
            ],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CPX",
                    "CPXD",
                    "CHO2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3133",
                "gene_name": "emopamil binding protein (sterol isomerase)",
                "omim_gene": [
                    "300205"
                ],
                "alias_name": [
                    "3-beta-hydroxysteroid-delta-8,delta-7-isomerase",
                    "Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)",
                    "sterol 8-isomerase"
                ],
                "gene_symbol": "EBP",
                "hgnc_symbol": "EBP",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:48379546-48387104",
                            "ensembl_id": "ENSG00000147155"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "X:48521158-48528716",
                            "ensembl_id": "ENSG00000147155"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-02-21"
            },
            "entity_type": "gene",
            "entity_name": "EBP",
            "confidence_level": "2",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "20949533"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Amber",
                "Literature"
            ],
            "phenotypes": [
                "MEND syndrome, OMIM:300960"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "tags": [
                "watchlist"
            ],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "ABP-280"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3754",
                "gene_name": "filamin A",
                "omim_gene": [
                    "300017"
                ],
                "alias_name": [
                    "actin binding protein 280",
                    "alpha filamin"
                ],
                "gene_symbol": "FLNA",
                "hgnc_symbol": "FLNA",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:153576892-153603006",
                            "ensembl_id": "ENSG00000196924"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:154348524-154374638",
                            "ensembl_id": "ENSG00000196924"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-03-18"
            },
            "entity_type": "gene",
            "entity_name": "FLNA",
            "confidence_level": "2",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Amber",
                "Literature"
            ],
            "phenotypes": [
                "Otopalatodigital syndrome, type II, OMIM:304120"
            ],
            "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": [
                    "KIAA0901",
                    "JM21",
                    "HD6",
                    "FLJ16239",
                    "PPP1R90"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14064",
                "gene_name": "histone deacetylase 6",
                "omim_gene": [
                    "300272"
                ],
                "alias_name": [
                    "protein phosphatase 1, regulatory subunit 90"
                ],
                "gene_symbol": "HDAC6",
                "hgnc_symbol": "HDAC6",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:48659784-48683392",
                            "ensembl_id": "ENSG00000094631"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:48801377-48824982",
                            "ensembl_id": "ENSG00000094631"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-11-28"
            },
            "entity_type": "gene",
            "entity_name": "HDAC6",
            "confidence_level": "2",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "20181727",
                "16001442"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Amber",
                "Literature"
            ],
            "phenotypes": [
                "?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, OMIM:300863"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "tags": [
                "watchlist"
            ],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "MRK",
                    "LCK2",
                    "KIAA0936",
                    "MGC46090"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21219",
                "gene_name": "intestinal cell kinase",
                "omim_gene": [
                    "612325"
                ],
                "alias_name": [
                    "serine/threonine-protein kinase ICK",
                    "MAK-related kinase"
                ],
                "gene_symbol": "ICK",
                "hgnc_symbol": "ICK",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:52866077-52926600",
                            "ensembl_id": "ENSG00000112144"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:53001279-53061802",
                            "ensembl_id": "ENSG00000112144"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-08-21"
            },
            "entity_type": "gene",
            "entity_name": "ICK",
            "confidence_level": "2",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "Other - please provide details in the comments",
            "publications": [
                "19185282"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Amber",
                "Literature"
            ],
            "phenotypes": [
                "Endocrine-cerebroosteodysplasia, OMIM:612651",
                "Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "watchlist",
                "new-gene-name"
            ],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "JBTS12"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:30497",
                "gene_name": "kinesin family member 7",
                "omim_gene": [
                    "611254"
                ],
                "alias_name": null,
                "gene_symbol": "KIF7",
                "hgnc_symbol": "KIF7",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:90152020-90198682",
                            "ensembl_id": "ENSG00000166813"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:89608789-89655451",
                            "ensembl_id": "ENSG00000166813"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-02-07"
            },
            "entity_type": "gene",
            "entity_name": "KIF7",
            "confidence_level": "2",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "21552264",
                "26174511"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Amber",
                "Literature"
            ],
            "phenotypes": [
                "?Hydrolethalus syndrome 2, OMIM:614120"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "watchlist"
            ],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7448",
                "gene_name": "myotubularin 1",
                "omim_gene": [
                    "300415"
                ],
                "alias_name": null,
                "gene_symbol": "MTM1",
                "hgnc_symbol": "MTM1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:149737069-149841795",
                            "ensembl_id": "ENSG00000171100"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:150568619-150673322",
                            "ensembl_id": "ENSG00000171100"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "MTM1",
            "confidence_level": "2",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "8588581",
                "9931531",
                "10790201"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Amber",
                "Literature"
            ],
            "phenotypes": [
                "Myopathy, centronuclear, X-linked, OMIM:310400"
            ],
            "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": [
                    "PDIA1",
                    "PROHB",
                    "DSI",
                    "GIT",
                    "PDI",
                    "PO4HB",
                    "P4Hbeta"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8548",
                "gene_name": "prolyl 4-hydroxylase subunit beta",
                "omim_gene": [
                    "176790"
                ],
                "alias_name": [
                    "protein disulfide isomerase-associated 1",
                    "protein disulfide isomerase family A, member 1",
                    "collagen prolyl 4-hydroxylase beta"
                ],
                "gene_symbol": "P4HB",
                "hgnc_symbol": "P4HB",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:79801035-79818570",
                            "ensembl_id": "ENSG00000185624"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:81843159-81860694",
                            "ensembl_id": "ENSG00000185624"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "P4HB",
            "confidence_level": "2",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "25683117",
                "30063094",
                "29263160",
                "29384951"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Amber",
                "Literature"
            ],
            "phenotypes": [
                "Cole-Carpenter syndrome 1, OMIM:112240"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [
                "watchlist"
            ],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9586",
                "gene_name": "patched 2",
                "omim_gene": [
                    "603673"
                ],
                "alias_name": null,
                "gene_symbol": "PTCH2",
                "hgnc_symbol": "PTCH2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:45285516-45308735",
                            "ensembl_id": "ENSG00000117425"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:44819844-44843063",
                            "ensembl_id": "ENSG00000117425"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-10-19"
            },
            "entity_type": "gene",
            "entity_name": "PTCH2",
            "confidence_level": "2",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
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                "18285427",
                "23479190",
                "3986729"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Amber",
                "Literature"
            ],
            "phenotypes": [
                "Basal cell nevus syndrome, OMIM:109400"
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                "watchlist"
            ],
            "transcript": null
        },
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                "biotype": "protein_coding",
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            "entity_type": "gene",
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            "penetrance": "Complete",
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                "25683121",
                "30462379",
                "27942778",
                "26467156"
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                "Expert Review Amber",
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                "watchlist"
            ],
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        },
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                    "MGC138321",
                    "MGC138323"
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                "omim_gene": [
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                "alias_name": [
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                "hgnc_symbol": "WNT3",
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                            "location": "17:44839872-44910520",
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                "hgnc_date_symbol_changed": "1989-05-30"
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            "entity_type": "gene",
            "entity_name": "WNT3",
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                "14872406"
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                "Expert Review Amber",
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                "Literature"
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                "Shashi-Pena syndrome 617190"
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        },
        {
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                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "CLIC2",
                "hgnc_symbol": "CLIC2",
                "hgnc_release": "2017-11-03T00:00:00",
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                    },
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                    }
                },
                "hgnc_date_symbol_changed": "1997-10-17"
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            "entity_type": "gene",
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            "penetrance": "Complete",
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                "31349857",
                "22814392"
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            "evidence": [
                "Expert Review Red",
                "NHS GMS",
                "Literature"
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                "Intellectual developmental disorder, X-linked syndromic 32, OMIM:300886"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "tags": [
                "watchlist"
            ],
            "transcript": null
        },
        {
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                    "FRAXA",
                    "MGC87458"
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                "biotype": "protein_coding",
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                "omim_gene": [
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                    },
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                "hgnc_date_symbol_changed": "1992-01-17"
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            "entity_type": "gene",
            "entity_name": "FMR1",
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            "penetrance": "Complete",
            "mode_of_pathogenicity": "Other - please provide details in the comments",
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                "Expert Review Red",
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        },
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                "hgnc_symbol": "GMPPB",
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                    },
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                },
                "hgnc_date_symbol_changed": "2005-01-10"
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            "entity_type": "gene",
            "entity_name": "GMPPB",
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                "Literature"
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        },
        {
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                    "KIAA1465"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29286",
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                "Expert list"
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                "hgnc_symbol": "NANS",
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            "entity_type": "gene",
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                "Expert Review Red",
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        },
        {
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                    "PNAT2"
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            "entity_type": "gene",
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        {
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            "entity_type": "gene",
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                "Expert Review Red",
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                "Neurocutaneous melanosis, somatic"
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        },
        {
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                "biotype": "protein_coding",
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            "entity_type": "gene",
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        {
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                "19068278"
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                "Joubert syndrome 2"
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        {
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        {
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                "28556411"
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                "NHS GMS",
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            "phenotypes": [
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                "watchlist"
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        },
        {
            "gene_data": {
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