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{
    "id": 269,
    "name": "Amelogenesis imperfecta",
    "strs": [],
    "genes": [
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Other"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14376",
                "gene_name": "acid phosphatase 4",
                "omim_gene": [
                    "606362"
                ],
                "alias_name": [
                    "testicular acid phosphatase"
                ],
                "gene_symbol": "ACP4",
                "hgnc_symbol": "ACP4",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "19:51293672-51298481",
                            "ensembl_id": "ENSG00000142513"
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                            "ensembl_id": "ENSG00000142513"
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                    }
                },
                "hgnc_date_symbol_changed": "2017-06-23"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Amelogenesis imperfecta, type IJ,  617297",
                "hypoplastic amelogenesis imperfecta"
            ],
            "transcript": null,
            "entity_name": "ACP4",
            "entity_type": "gene",
            "publications": [
                "28513613",
                "27843125"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "cnv"
            ],
            "evidence": [
                "Expert Review Green",
                "Other",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:452",
                "gene_name": "ameloblastin",
                "omim_gene": [
                    "601259"
                ],
                "alias_name": [
                    "enamel matrix protein"
                ],
                "gene_symbol": "AMBN",
                "hgnc_symbol": "AMBN",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "4:71457973-71473005",
                            "ensembl_id": "ENSG00000178522"
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                    },
                    "GRch38": {
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                    }
                },
                "hgnc_date_symbol_changed": "1997-01-08"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Amelogenesis imperfecta, type IF, 616270"
            ],
            "transcript": null,
            "entity_name": "AMBN",
            "entity_type": "gene",
            "publications": [
                "24858907",
                "26502894"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "deletions"
            ],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "Eligibility statement prior genetic testing"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:461",
                "gene_name": "amelogenin, X-linked",
                "omim_gene": [
                    "300391"
                ],
                "alias_name": [
                    "amelogenesis imperfecta 1"
                ],
                "gene_symbol": "AMELX",
                "hgnc_symbol": "AMELX",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:11311533-11318881",
                            "ensembl_id": "ENSG00000125363"
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                    },
                    "GRch38": {
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                            "ensembl_id": "ENSG00000125363"
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                    }
                },
                "hgnc_date_symbol_changed": "1988-05-11"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Amelogenesis imperfecta, type 1E, 301200",
                "Amelogenesis Imperfecta, Type IE, 301200",
                "X-linked hypoplastic amelogenesis imperfecta",
                "hypomaturation AI with variable hypoplastic foci",
                "smooth hypoplastic AI"
            ],
            "transcript": null,
            "entity_name": "AMELX",
            "entity_type": "gene",
            "publications": [
                "19610109",
                "23251683",
                "15111628",
                "7782077",
                "1916828",
                "25117480",
                "7599636",
                "1483698",
                "17189466",
                "9188994",
                "11922869",
                "11839357",
                "7599636",
                "22243263",
                "11201048",
                "26502894",
                "28130977",
                "8406474"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "new-gene-name"
            ],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "Eligibility statement prior genetic testing"
            ],
            "gene_data": {
                "alias": [
                    "FLJ23657",
                    "AI2A4"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26300",
                "gene_name": "odontogenesis associated phosphoprotein",
                "omim_gene": [
                    "614829"
                ],
                "alias_name": [
                    "amelogenesis imperfecta type IIA4"
                ],
                "gene_symbol": "C4orf26",
                "hgnc_symbol": "ODAPH",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:76481258-76491095",
                            "ensembl_id": "ENSG00000174792"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:75556048-75565885",
                            "ensembl_id": "ENSG00000174792"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2017-08-09"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Amelogenesis imperfecta, type IIA4, 614832",
                "Amelogenesis Imperfecta, Type IIA4, 614832",
                "hypomineralized amelogenesis imperfecta"
            ],
            "transcript": null,
            "entity_name": "C4orf26",
            "entity_type": "gene",
            "publications": [
                "27558265",
                "22901946"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Other",
                "Emory Genetics Laboratory"
            ],
            "gene_data": {
                "alias": [
                    "KIAA1592"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:105",
                "gene_name": "cyclin and CBS domain divalent metal cation transport mediator 4",
                "omim_gene": [
                    "607805"
                ],
                "alias_name": null,
                "gene_symbol": "CNNM4",
                "hgnc_symbol": "CNNM4",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:97426639-97477628",
                            "ensembl_id": "ENSG00000158158"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:96760902-96811891",
                            "ensembl_id": "ENSG00000158158"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-12-07"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Jalili syndrome, 217080 (includes amelogenesis imperfecta)",
                "cone-rod dystrophy and amelogenesis imperfecta"
            ],
            "transcript": null,
            "entity_name": "CNNM4",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "monogenic-polygenic"
            ],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Eligibility statement prior genetic testing"
            ],
            "gene_data": {
                "alias": [
                    "BP180"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2194",
                "gene_name": "collagen type XVII alpha 1 chain",
                "omim_gene": [
                    "113811"
                ],
                "alias_name": null,
                "gene_symbol": "COL17A1",
                "hgnc_symbol": "COL17A1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:105791044-105845760",
                            "ensembl_id": "ENSG00000065618"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:104031286-104086002",
                            "ensembl_id": "ENSG00000065618"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-09-27"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (includes enamel pitting)",
                "Amelogenesis Imperfecta",
                "non-Herlitz junctional epidermolysis bullosa (nH-JEB) and amelogenesis imperfecta",
                "hypoplastic amelogenesis imperfecta"
            ],
            "transcript": null,
            "entity_name": "COL17A1",
            "entity_type": "gene",
            "publications": [
                "16820943",
                "27558265",
                "26502894",
                "8669466"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Illumina TruGenome Clinical Sequencing Services",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "Eligibility statement prior genetic testing"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2916",
                "gene_name": "distal-less homeobox 3",
                "omim_gene": [
                    "600525"
                ],
                "alias_name": null,
                "gene_symbol": "DLX3",
                "hgnc_symbol": "DLX3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:48067369-48072588",
                            "ensembl_id": "ENSG00000064195"
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                    },
                    "GRch38": {
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                            "location": "17:49990005-49995224",
                            "ensembl_id": "ENSG00000064195"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-05-16"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Amelogenesis imperfecta, type IV, 104510",
                "Amelogenesis Imperfecta, Type IV, 104510",
                "Amelogenesis Imperfecta, Dominant",
                "amelogenesis imperfecta with taurodontism",
                "Trichodontoosseous syndrome, 190320",
                "Tricho-dento-osseous syndrome (TDO) (includes enamel hypoplasia)",
                "hypoplastic AI, taurodontism and kinky hair",
                "Tricho-Dento-Osseous syndrome , Amelogenesis Imperfecta, hypoplastic"
            ],
            "transcript": null,
            "entity_name": "DLX3",
            "entity_type": "gene",
            "publications": [
                "21252474",
                "20151948",
                "26104267",
                "15666299",
                "9467018",
                "23949819"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Illumina TruGenome Clinical Sequencing Services",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "Eligibility statement prior genetic testing"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3344",
                "gene_name": "enamelin",
                "omim_gene": [
                    "606585"
                ],
                "alias_name": null,
                "gene_symbol": "ENAM",
                "hgnc_symbol": "ENAM",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:71494461-71552533",
                            "ensembl_id": "ENSG00000132464"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:70628744-70686816",
                            "ensembl_id": "ENSG00000132464"
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                    }
                },
                "hgnc_date_symbol_changed": "1999-05-17"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Amelogenesis imperfecta, type IB, 104500",
                "Amelogenesis imperfecta, type IC, 204650",
                "Amelogenesis Imperfecta, Dominant",
                "autosomal recessive amelogenesis imperfecta"
            ],
            "transcript": null,
            "entity_name": "ENAM",
            "entity_type": "gene",
            "publications": [
                "22029166",
                "22540999",
                "11978766",
                "15723871",
                "25143514",
                "11487571",
                "21597265",
                "17316551",
                "12407086",
                "20439930",
                "16246937",
                "14684688",
                "19329462",
                "25769099",
                "26502894",
                "28334996"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "Eligibility statement prior genetic testing"
            ],
            "gene_data": {
                "alias": [
                    "DKFZp434F2322"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:23015",
                "gene_name": "FAM20A, golgi associated secretory pathway pseudokinase",
                "omim_gene": [
                    "611062"
                ],
                "alias_name": null,
                "gene_symbol": "FAM20A",
                "hgnc_symbol": "FAM20A",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:66531254-66597530",
                            "ensembl_id": "ENSG00000108950"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "17:68535113-68601389",
                            "ensembl_id": "ENSG00000108950"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-09-03"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690",
                "Amelogenesis Imperfecta, Type IG, 204690",
                "Hypomieralised AI"
            ],
            "transcript": null,
            "entity_name": "FAM20A",
            "entity_type": "gene",
            "publications": [
                "21990045",
                "24756937",
                "23697977",
                "23434854",
                "24259279",
                "24196488",
                "21549343",
                "23468644",
                "26502894",
                "25827751"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Eligibility statement prior genetic testing"
            ],
            "gene_data": {
                "alias": [
                    "IMAGE:4942737",
                    "DKFZp547D065",
                    "DMP4",
                    "G-CK"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:22140",
                "gene_name": "FAM20C, golgi associated secretory pathway kinase",
                "omim_gene": [
                    "611061"
                ],
                "alias_name": [
                    "dentin matrix protein 4",
                    "golgi casein kinase"
                ],
                "gene_symbol": "FAM20C",
                "hgnc_symbol": "FAM20C",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:192969-300711",
                            "ensembl_id": "ENSG00000177706"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:192969-260745",
                            "ensembl_id": "ENSG00000177706"
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                    }
                },
                "hgnc_date_symbol_changed": "2003-09-03"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Raine Syndrome, 259775",
                "hypoplastic Amelogenesis Imperfecta"
            ],
            "transcript": null,
            "entity_name": "FAM20C",
            "entity_type": "gene",
            "publications": [
                "25928877",
                "17924334",
                "24039075",
                "24458843",
                "19250384",
                "23325605",
                "20825432",
                "24982027",
                "20453638",
                "27667191",
                "27862258"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "Eligibility statement prior genetic testing"
            ],
            "gene_data": {
                "alias": [
                    "FLJ46072"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:24797",
                "gene_name": "family with sequence similarity 83 member H",
                "omim_gene": [
                    "611927"
                ],
                "alias_name": null,
                "gene_symbol": "FAM83H",
                "hgnc_symbol": "FAM83H",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:144806103-144815971",
                            "ensembl_id": "ENSG00000180921"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "8:143723933-143733801",
                            "ensembl_id": "ENSG00000180921"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-03-23"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Amelogenesis imperfecta, type III, 130900",
                "Amelogenesis Imperfecta, Type III, 130900",
                "Hypocalcified AI"
            ],
            "transcript": null,
            "entity_name": "FAM83H",
            "entity_type": "gene",
            "publications": [
                "20160442",
                "19407157",
                "18484629",
                "21702852",
                "19407157",
                "22414746",
                "18252228",
                "21597265",
                "19828885",
                "19825039",
                "19220331",
                "26788537",
                "21118793",
                "26502894",
                "26171361",
                "26481691",
                "26142250"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": "Other - please provide details in the comments"
        },
        {
            "tags": [
                "deletions"
            ],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Eligibility statement prior genetic testing"
            ],
            "gene_data": {
                "alias": [
                    "OGR1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4519",
                "gene_name": "G protein-coupled receptor 68",
                "omim_gene": [
                    "601404"
                ],
                "alias_name": null,
                "gene_symbol": "GPR68",
                "hgnc_symbol": "GPR68",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:91698876-91720269",
                            "ensembl_id": "ENSG00000119714"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "14:91232532-91253925",
                            "ensembl_id": "ENSG00000119714"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-10-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Amelogenesis imperfecta, hypomaturation type, IIA6, 617217"
            ],
            "transcript": null,
            "entity_name": "GPR68",
            "entity_type": "gene",
            "publications": [
                "27693231"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "Other"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6161",
                "gene_name": "integrin subunit beta 6",
                "omim_gene": [
                    "147558"
                ],
                "alias_name": null,
                "gene_symbol": "ITGB6",
                "hgnc_symbol": "ITGB6",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:160956177-161128399",
                            "ensembl_id": "ENSG00000115221"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:160099666-160271888",
                            "ensembl_id": "ENSG00000115221"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-02-14"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "amelogenesis imperfecta (non-syndromic form)",
                "Amelogenesis imperfecta, type IH,  616221",
                "Amelogenesis imperfecta, type IH, 616221"
            ],
            "transcript": null,
            "entity_name": "ITGB6",
            "entity_type": "gene",
            "publications": [
                "24305999",
                "25431241",
                "24319098",
                "26695873"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "Eligibility statement prior genetic testing"
            ],
            "gene_data": {
                "alias": [
                    "EMSP",
                    "EMSP1",
                    "PSTS",
                    "KLK-L1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6365",
                "gene_name": "kallikrein related peptidase 4",
                "omim_gene": [
                    "603767"
                ],
                "alias_name": [
                    "enamel matrix serine proteinase 1"
                ],
                "gene_symbol": "KLK4",
                "hgnc_symbol": "KLK4",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:51409608-51413994",
                            "ensembl_id": "ENSG00000167749"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:50906352-50910738",
                            "ensembl_id": "ENSG00000167749"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-04-29"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Amelogenesis imperfecta, type IIA1, 204700",
                "Amelogenesis Imperfecta, Hypomaturation Type, IIA1, 204700"
            ],
            "transcript": null,
            "entity_name": "KLK4",
            "entity_type": "gene",
            "publications": [
                "15235027",
                "23355523",
                "26124219",
                "28611678"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "monogenic-polygenic"
            ],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Eligibility statement prior genetic testing"
            ],
            "gene_data": {
                "alias": [
                    "nicein-150kDa",
                    "kalinin-165kDa",
                    "BM600-150kDa",
                    "epiligrin"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6483",
                "gene_name": "laminin subunit alpha 3",
                "omim_gene": [
                    "600805"
                ],
                "alias_name": null,
                "gene_symbol": "LAMA3",
                "hgnc_symbol": "LAMA3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "18:21269407-21535030",
                            "ensembl_id": "ENSG00000053747"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "18:23689443-23955066",
                            "ensembl_id": "ENSG00000053747"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-12-14"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Amelogenesis imperfecta, hypoplastic type",
                "Epidermolysis bullosa, generalized atrophic benign 226650",
                "Epidermolysis bullosa, junctional, Herlitz type 226700",
                "Laryngoonychocutaneous syndrome 245660"
            ],
            "transcript": null,
            "entity_name": "LAMA3",
            "entity_type": "gene",
            "publications": [
                "22434185",
                "26502894",
                "27827380"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "Eligibility statement prior genetic testing"
            ],
            "gene_data": {
                "alias": [
                    "nicein-125kDa",
                    "kalinin-140kDa",
                    "BM600-125kDa"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6490",
                "gene_name": "laminin subunit beta 3",
                "omim_gene": [
                    "150310"
                ],
                "alias_name": null,
                "gene_symbol": "LAMB3",
                "hgnc_symbol": "LAMB3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:209788215-209825811",
                            "ensembl_id": "ENSG00000196878"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:209614870-209652466",
                            "ensembl_id": "ENSG00000196878"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-12-14"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Amelogenesis imperfecta, type IA, 104530",
                "Amelogenesis Imperfecta, Type IA, 104530",
                "Epidermolysis bullosa, junctional, Herlitz type, 26700",
                "Epidermolysis bullosa, junctional, non-Herlitz type, 226650"
            ],
            "transcript": null,
            "entity_name": "LAMB3",
            "entity_type": "gene",
            "publications": [
                "24494736",
                "23632796",
                "23958762",
                "25769099",
                "7706760",
                "26502894",
                "27220909"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
            "mode_of_pathogenicity": "Other - please provide details in the comments"
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Eligibility statement prior genetic testing",
                "Other"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6716",
                "gene_name": "latent transforming growth factor beta binding protein 3",
                "omim_gene": [
                    "602090"
                ],
                "alias_name": null,
                "gene_symbol": "LTBP3",
                "hgnc_symbol": "LTBP3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:65306276-65326401",
                            "ensembl_id": "ENSG00000168056"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:65538805-65558930",
                            "ensembl_id": "ENSG00000168056"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-05-11"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Dental anomalies and short stature, 601216",
                "Amelogenesis Imperfecta",
                "syndromic AI with brachyolmia"
            ],
            "transcript": null,
            "entity_name": "LTBP3",
            "entity_type": "gene",
            "publications": [
                "25669657",
                "28084688"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Illumina TruGenome Clinical Sequencing Services",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "Eligibility statement prior genetic testing"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7167",
                "gene_name": "matrix metallopeptidase 20",
                "omim_gene": [
                    "604629"
                ],
                "alias_name": [
                    "enamelysin"
                ],
                "gene_symbol": "MMP20",
                "hgnc_symbol": "MMP20",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:102447566-102496063",
                            "ensembl_id": "ENSG00000137674"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:102576835-102625332",
                            "ensembl_id": "ENSG00000137674"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-07-23"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Amelogenesis imperfecta, type IIA2, 612529",
                "Amelogenesis Imperfecta, Hypomaturation Type, IIA2, 612529",
                "Amelogenesis Imperfecta, Recessive"
            ],
            "transcript": null,
            "entity_name": "MMP20",
            "entity_type": "gene",
            "publications": [
                "28473773",
                "15744043",
                "18096894",
                "26502894",
                "23625376",
                "23355523",
                "16246936",
                "19966041",
                "26124219",
                "28659819"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "FLJ14466",
                    "CRACM1"
                ],
                "biotype": null,
                "hgnc_id": "HGNC:25896",
                "gene_name": "ORAI calcium release-activated calcium modulator 1",
                "omim_gene": [
                    "610277"
                ],
                "alias_name": [
                    "calcium release-activated calcium modulator 1"
                ],
                "gene_symbol": "ORAI1",
                "hgnc_symbol": "ORAI1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:122064455-122080583",
                            "ensembl_id": "ENSG00000182500"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:121626550-121642677",
                            "ensembl_id": "ENSG00000276045"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-08-14"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Immunodeficiency 9, 612782"
            ],
            "transcript": null,
            "entity_name": "ORAI1",
            "entity_type": "gene",
            "publications": [
                "20004786",
                "26469693",
                "16582901"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Eligibility statement prior genetic testing"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8850",
                "gene_name": "peroxisomal biogenesis factor 1",
                "omim_gene": [
                    "602136"
                ],
                "alias_name": null,
                "gene_symbol": "PEX1",
                "hgnc_symbol": "PEX1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:92116334-92157845",
                            "ensembl_id": "ENSG00000127980"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:92487020-92528531",
                            "ensembl_id": "ENSG00000127980"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-01-08"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Heimler Syndrome 1, 234580 (includes amelogenesis imperfecta)",
                "hypomineralized amelogenesis imperfecta",
                "amelogenesis imperfecta",
                "Peroxisomal Biogenesis Disorder 1A (NALD / IRD) 601539",
                "Peroxisome biogenesis disorder 1A (Zellweger), 214100"
            ],
            "transcript": null,
            "entity_name": "PEX1",
            "entity_type": "gene",
            "publications": [
                "27302843",
                "26387595",
                "27633571"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Eligibility statement prior genetic testing"
            ],
            "gene_data": {
                "alias": [
                    "PXAAA1",
                    "PAF-2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8859",
                "gene_name": "peroxisomal biogenesis factor 6",
                "omim_gene": [
                    "601498"
                ],
                "alias_name": null,
                "gene_symbol": "PEX6",
                "hgnc_symbol": "PEX6",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:42931608-42946958",
                            "ensembl_id": "ENSG00000124587"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:42963870-42979220",
                            "ensembl_id": "ENSG00000124587"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-05-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Heimler Syndrome 2, 616617 (includes amelogenesis imperfecta)",
                "Peroxisome biogenesis disorder 4A (Zellweger), 614862",
                "Peroxisome biogenesis disorder 4B, 614863"
            ],
            "transcript": null,
            "entity_name": "PEX6",
            "entity_type": "gene",
            "publications": [
                "27302843",
                "26387595",
                "16530715"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "FLJ14993"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13764",
                "gene_name": "RELT, TNF receptor",
                "omim_gene": [
                    "611211"
                ],
                "alias_name": [
                    "receptor expressed in lymphoid tissues"
                ],
                "gene_symbol": "RELT",
                "hgnc_symbol": "RELT",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:73087309-73108519",
                            "ensembl_id": "ENSG00000054967"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:73376264-73397474",
                            "ensembl_id": "ENSG00000054967"
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                    }
                },
                "hgnc_date_symbol_changed": "2007-06-14"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "amelogenesis imperfecta (hypoplastic)",
                "Amelogenesis imperfecta, type IIIC, 618386"
            ],
            "transcript": null,
            "entity_name": "RELT",
            "entity_type": "gene",
            "publications": [
                "30506946"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": null
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Other"
            ],
            "gene_data": {
                "alias": [
                    "FLJ22386"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29478",
                "gene_name": "rogdi homolog",
                "omim_gene": [
                    "614574"
                ],
                "alias_name": null,
                "gene_symbol": "ROGDI",
                "hgnc_symbol": "ROGDI",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:4846969-4852951",
                            "ensembl_id": "ENSG00000067836"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "16:4796968-4802950",
                            "ensembl_id": "ENSG00000067836"
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                    }
                },
                "hgnc_date_symbol_changed": "2006-03-08"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Kohlschutter-Tonz syndrome,  226750",
                "Amelogenesis imperfecta, hypocalcified type (primary and secondary teeth)"
            ],
            "transcript": null,
            "entity_name": "ROGDI",
            "entity_type": "gene",
            "publications": [
                "3236364",
                "23086778",
                "25565929",
                "22424600",
                "22482807",
                "28651123"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "MGC25043",
                    "DKFZp566M114",
                    "DKFZp313H0531",
                    "DKFZp779O2438"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:23088",
                "gene_name": "solute carrier family 10 member 7",
                "omim_gene": [
                    "611459"
                ],
                "alias_name": null,
                "gene_symbol": "SLC10A7",
                "hgnc_symbol": "SLC10A7",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:147175127-147443123",
                            "ensembl_id": "ENSG00000120519"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "4:146253975-146521964",
                            "ensembl_id": "ENSG00000120519"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-12-19"
            },
            "penetrance": null,
            "phenotypes": [
                "skeletal dysplasia and amelogenesis imperfecta",
                "Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (SSASKS) 618363",
                "short stature",
                "amelogenesis imperfect hypo mineralised",
                "skeletal dysplasia",
                "scoliosis"
            ],
            "transcript": null,
            "entity_name": "SLC10A7",
            "entity_type": "gene",
            "publications": [
                "30082715",
                "29878199"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": null
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "NACT"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:23089",
                "gene_name": "solute carrier family 13 member 5",
                "omim_gene": [
                    "608305"
                ],
                "alias_name": null,
                "gene_symbol": "SLC13A5",
                "hgnc_symbol": "SLC13A5",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:6588032-6616886",
                            "ensembl_id": "ENSG00000141485"
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                    },
                    "GRch38": {
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                            "location": "17:6684713-6713567",
                            "ensembl_id": "ENSG00000141485"
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                    }
                },
                "hgnc_date_symbol_changed": "2003-09-09"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Kohlschütter-Tönz syndrome(KTZS)",
                "hypoplastic amelogenesis imperfecta",
                "Epileptic encephalopathy, early infantile, 25 615905"
            ],
            "transcript": null,
            "entity_name": "SLC13A5",
            "entity_type": "gene",
            "publications": [
                "27600704",
                "26384929",
                "24995870",
                "27261973"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "Other"
            ],
            "gene_data": {
                "alias": [
                    "NCKX4"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10978",
                "gene_name": "solute carrier family 24 member 4",
                "omim_gene": [
                    "609840"
                ],
                "alias_name": null,
                "gene_symbol": "SLC24A4",
                "hgnc_symbol": "SLC24A4",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:92788925-92962596",
                            "ensembl_id": "ENSG00000140090"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "14:92322581-92501483",
                            "ensembl_id": "ENSG00000140090"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-09-01"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "amelogenesis imperfecta (non-syndromic form)",
                "Amelogenesis imperfecta, type IIA5, 615887",
                "hypomaturation/hypomineralised amelogenesis imperfecta"
            ],
            "transcript": null,
            "entity_name": "SLC24A4",
            "entity_type": "gene",
            "publications": [
                "24621671",
                "23375655",
                "25442250",
                "24532815",
                "26502894",
                "27129268"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Eligibility statement prior genetic testing"
            ],
            "gene_data": {
                "alias": [
                    "GOK",
                    "D11S4896E"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11386",
                "gene_name": "stromal interaction molecule 1",
                "omim_gene": [
                    "605921"
                ],
                "alias_name": null,
                "gene_symbol": "STIM1",
                "hgnc_symbol": "STIM1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:3875757-4114439",
                            "ensembl_id": "ENSG00000167323"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:3854527-4093210",
                            "ensembl_id": "ENSG00000167323"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-02-05"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Immunodeficiency 10, 612783"
            ],
            "transcript": null,
            "entity_name": "STIM1",
            "entity_type": "gene",
            "publications": [
                "28732182",
                "24621671",
                "26560041",
                "19420366",
                "22190180"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Illumina TruGenome Clinical Sequencing Services",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "Eligibility statement prior genetic testing"
            ],
            "gene_data": {
                "alias": [
                    "FLJ38736"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26790",
                "gene_name": "WD repeat domain 72",
                "omim_gene": [
                    "613214"
                ],
                "alias_name": null,
                "gene_symbol": "WDR72",
                "hgnc_symbol": "WDR72",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:53805938-54055075",
                            "ensembl_id": "ENSG00000166415"
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                    },
                    "GRch38": {
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                            "ensembl_id": "ENSG00000166415"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-05-26"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Amelogenesis imperfecta, type IIA3, 613211",
                "Amelogenesis Imperfecta, Type IIA3, 613211",
                "Amelogenesis Imperfecta, Recessive",
                "Hypomaturation AI"
            ],
            "transcript": null,
            "entity_name": "WDR72",
            "entity_type": "gene",
            "publications": [
                "25008349",
                "23293580",
                "20938048",
                "19853237",
                "21196691",
                "26502894",
                "27259663"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "deletions",
                "watchlist"
            ],
            "evidence": [
                "Expert Review Amber",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "UNQ689",
                    "RSTI689"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:33188",
                "gene_name": "amelotin",
                "omim_gene": [
                    "610912"
                ],
                "alias_name": null,
                "gene_symbol": "AMTN",
                "hgnc_symbol": "AMTN",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:71384257-71398459",
                            "ensembl_id": "ENSG00000187689"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:70518540-70532742",
                            "ensembl_id": "ENSG00000187689"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-12-06"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Amelogenesis imperfecta",
                "dominant hypomineralised AI",
                "Amelogenesis imperfecta, hypomaturation type",
                "?Amelogenesis imperfecta, type IIIB, \t617607"
            ],
            "transcript": null,
            "entity_name": "AMTN",
            "entity_type": "gene",
            "publications": [
                "27412008"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "PCLN1",
                    "HOMG3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2037",
                "gene_name": "claudin 16",
                "omim_gene": [
                    "603959"
                ],
                "alias_name": [
                    "paracellin-1",
                    "hypomagnesemia 3, with hypercalciuria and nephrocalcinosis"
                ],
                "gene_symbol": "CLDN16",
                "hgnc_symbol": "CLDN16",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:190040330-190129932",
                            "ensembl_id": "ENSG00000113946"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:190322541-190412143",
                            "ensembl_id": "ENSG00000113946"
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                    }
                },
                "hgnc_date_symbol_changed": "2000-01-07"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis (FHHNC)"
            ],
            "transcript": null,
            "entity_name": "CLDN16",
            "entity_type": "gene",
            "publications": [
                "26426912"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "Literature"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2040",
                "gene_name": "claudin 19",
                "omim_gene": [
                    "610036"
                ],
                "alias_name": null,
                "gene_symbol": "CLDN19",
                "hgnc_symbol": "CLDN19",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:43198764-43205925",
                            "ensembl_id": "ENSG00000164007"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:42733093-42740254",
                            "ensembl_id": "ENSG00000164007"
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                    }
                },
                "hgnc_date_symbol_changed": "2000-03-15"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis (FHHNC)"
            ],
            "transcript": null,
            "entity_name": "CLDN19",
            "entity_type": "gene",
            "publications": [
                "27530400"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "watchlist"
            ],
            "evidence": [
                "Expert Review Amber",
                "UKGTN",
                "Eligibility statement prior genetic testing"
            ],
            "gene_data": {
                "alias": [
                    "CD104"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6158",
                "gene_name": "integrin subunit beta 4",
                "omim_gene": [
                    "147557"
                ],
                "alias_name": null,
                "gene_symbol": "ITGB4",
                "hgnc_symbol": "ITGB4",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:73717408-73753899",
                            "ensembl_id": "ENSG00000132470"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:75721328-75757818",
                            "ensembl_id": "ENSG00000132470"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-08-06"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Amelogenesis Imperfecta",
                "Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (includes Enamel hypoplasia)",
                "Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (includes enamel pitting)"
            ],
            "transcript": null,
            "entity_name": "ITGB4",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "2",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "watchlist"
            ],
            "evidence": [
                "Expert Review Amber",
                "UKGTN",
                "Eligibility statement prior genetic testing"
            ],
            "gene_data": {
                "alias": [
                    "nicein-100kDa",
                    "kalinin-105kDa",
                    "BM600-100kDa"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6493",
                "gene_name": "laminin subunit gamma 2",
                "omim_gene": [
                    "150292"
                ],
                "alias_name": null,
                "gene_symbol": "LAMC2",
                "hgnc_symbol": "LAMC2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:183155373-183214035",
                            "ensembl_id": "ENSG00000058085"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:183186238-183244900",
                            "ensembl_id": "ENSG00000058085"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-07-13"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Amelogenesis Imperfecta",
                "Epidermolysis bullosa, junctional, Herlitz type, 226700",
                "Epidermolysis bullosa, junctional, non-Herlitz type, 226650"
            ],
            "transcript": null,
            "entity_name": "LAMC2",
            "entity_type": "gene",
            "publications": [
                "26956061"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "watchlist"
            ],
            "evidence": [
                "Expert Review Amber",
                "Literature",
                "Expert Review"
            ],
            "gene_data": {
                "alias": [
                    "FLJ20695"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:22965",
                "gene_name": "peroxisomal biogenesis factor 26",
                "omim_gene": [
                    "608666"
                ],
                "alias_name": null,
                "gene_symbol": "PEX26",
                "hgnc_symbol": "PEX26",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "22:18560689-18613905",
                            "ensembl_id": "ENSG00000215193"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "22:18077920-18131138",
                            "ensembl_id": "ENSG00000215193"
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                    }
                },
                "hgnc_date_symbol_changed": "2003-08-05"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Peroxisome biogenesis disorder 7A (Zellweger), 614872",
                "Peroxisome biogenesis disorder 7B, 614873",
                "Heimler syndrome",
                "Amelogenesis imperfecta",
                "enamel dysplasia"
            ],
            "transcript": null,
            "entity_name": "PEX26",
            "entity_type": "gene",
            "publications": [
                "28944237"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "Kir1.1",
                    "ROMK1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6255",
                "gene_name": "potassium voltage-gated channel subfamily J member 1",
                "omim_gene": [
                    "600359"
                ],
                "alias_name": null,
                "gene_symbol": "KCNJ1",
                "hgnc_symbol": "KCNJ1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:128706210-128737268",
                            "ensembl_id": "ENSG00000151704"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "11:128836315-128867373",
                            "ensembl_id": "ENSG00000151704"
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                    }
                },
                "hgnc_date_symbol_changed": "1993-08-03"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Bartter syndrome, type 2,  241200",
                "Amelogenesis Imperfecta"
            ],
            "transcript": null,
            "entity_name": "KCNJ1",
            "entity_type": "gene",
            "publications": [
                "23341834"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Other"
            ],
            "gene_data": {
                "alias": [
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                    "Rsc6p",
                    "CRACD2",
                    "PRO2451"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11107",
                "gene_name": "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2",
                "omim_gene": [
                    "601736"
                ],
                "alias_name": [
                    "mammalian chromatin remodeling complex BRG1-associated factor 60B",
                    "Swp73-like protein",
                    "chromatin remodeling complex BAF60B subunit",
                    "SWI/SNF complex 60 kDa subunit B"
                ],
                "gene_symbol": "SMARCD2",
                "hgnc_symbol": "SMARCD2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:61909444-61920425",
                            "ensembl_id": "ENSG00000108604"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:63832081-63843065",
                            "ensembl_id": "ENSG00000108604"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-05-15"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Specific granule deficiency 2, 617475"
            ],
            "transcript": null,
            "entity_name": "SMARCD2",
            "entity_type": "gene",
            "publications": [
                "28369036"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Other"
            ],
            "gene_data": {
                "alias": [
                    "TMPT27",
                    "TPARL",
                    "GDT1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:30760",
                "gene_name": "transmembrane protein 165",
                "omim_gene": [
                    "614726"
                ],
                "alias_name": [
                    "TPA regulated locus"
                ],
                "gene_symbol": "TMEM165",
                "hgnc_symbol": "TMEM165",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "4:56262124-56319564",
                            "ensembl_id": "ENSG00000134851"
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                    },
                    "GRch38": {
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                            "location": "4:55395957-55453397",
                            "ensembl_id": "ENSG00000134851"
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                    }
                },
                "hgnc_date_symbol_changed": "2006-07-17"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "amelogenesis imperfecta"
            ],
            "transcript": null,
            "entity_name": "TMEM165",
            "entity_type": "gene",
            "publications": [
                "22683087"
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            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
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            "gene_data": {
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                    "KET",
                    "p73H",
                    "NBP",
                    "p53CP"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:15979",
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                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "TP63",
                "hgnc_symbol": "TP63",
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                "ensembl_genes": {
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                    },
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                            "location": "3:189631416-189897279",
                            "ensembl_id": "ENSG00000073282"
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                    }
                },
                "hgnc_date_symbol_changed": "2002-04-18"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Split hand-split foot-ectodermal dysplasia and amelogenesis imperfecta"
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            "entity_name": "TP63",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
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        },
        {
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            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12422",
                "gene_name": "tuftelin 1",
                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "TUFT1",
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            "penetrance": "Complete",
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                "7919663"
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            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
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    ],
    "stats": {
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        "number_of_genes": 39,
        "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 Rare Disease",
            "slug": "gms-rare-disease",
            "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
        },
        {
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            "slug": "gms-signed-off",
            "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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    ],
    "status": "public",
    "hash_id": "58c7f3c78f620328d77ce70e",
    "regions": [],
    "version": "2.2",
    "disease_group": "Skeletal disorders",
    "version_created": "2020-02-13T12:03:28.696032Z",
    "disease_sub_group": "Skeletal dysplasias",
    "relevant_disorders": [
        "Amelogenesis Imperfecta",
        "R340"
    ],
    "signed_off": "2020-02-13"
}