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    "name": "Tubulointerstitial kidney disease",
    "strs": [],
    "genes": [
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                "Tubulointerstitial kidney disease",
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                "Expert Review Green"
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            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12559",
                "gene_name": "uromodulin",
                "omim_gene": [
                    "191845"
                ],
                "alias_name": [
                    "Tamm-Horsfall glycoprotein",
                    "uromucoid"
                ],
                "gene_symbol": "UMOD",
                "hgnc_symbol": "UMOD",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:20344374-20367623",
                            "ensembl_id": "ENSG00000169344"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:20333052-20356301",
                            "ensembl_id": "ENSG00000169344"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-07-27"
            },
            "penetrance": null,
            "phenotypes": [
                "Medullary cystic kidney disease 2 MIM 603860",
                "Familial juvenile hyperuricemic nephropathy 1 MIM 162000"
            ],
            "transcript": null,
            "entity_name": "UMOD",
            "entity_type": "gene",
            "publications": [
                "12471200",
                "14569098"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": "Other - please provide details in the comments"
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "Pwdmp",
                    "KIAA1638",
                    "FLJ23127",
                    "ORF26",
                    "DYF-2",
                    "Oseg6",
                    "IFT144",
                    "NPHP13"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:18340",
                "gene_name": "WD repeat domain 19",
                "omim_gene": [
                    "608151"
                ],
                "alias_name": [
                    "intraflagellar transport 144 homolog (Chlamydomonas)"
                ],
                "gene_symbol": "WDR19",
                "hgnc_symbol": "WDR19",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:39184024-39287430",
                            "ensembl_id": "ENSG00000157796"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:39182404-39285810",
                            "ensembl_id": "ENSG00000157796"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-04-26"
            },
            "penetrance": null,
            "phenotypes": [
                "Nephronopthisis 13 MIM 614377",
                "?Cranioectodermal dysplasia 4, MIM 614378",
                "?Short-rib thoracic dysplasia 5 with or without polydactyly, MIM 614376",
                "Senior-Loken syndrome 8, MIM 616307"
            ],
            "transcript": null,
            "entity_name": "WDR19",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Amber"
            ],
            "gene_data": {
                "alias": [
                    "KIAA1312"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13202",
                "gene_name": "ADAM metallopeptidase with thrombospondin type 1 motif 9",
                "omim_gene": [
                    "605421"
                ],
                "alias_name": null,
                "gene_symbol": "ADAMTS9",
                "hgnc_symbol": "ADAMTS9",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:64501333-64673676",
                            "ensembl_id": "ENSG00000163638"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:64515654-64688000",
                            "ensembl_id": "ENSG00000163638"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-11-27"
            },
            "penetrance": null,
            "phenotypes": [
                "Nephronophthisis-Related Ciliopathy (no OMIM number yet)"
            ],
            "transcript": null,
            "entity_name": "ADAMTS9",
            "entity_type": "gene",
            "publications": [
                "30609407"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Amber"
            ],
            "gene_data": {
                "alias": [
                    "RU2",
                    "KIAA1154",
                    "DCDC2A",
                    "NPHP19"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:18141",
                "gene_name": "doublecortin domain containing 2",
                "omim_gene": [
                    "605755"
                ],
                "alias_name": null,
                "gene_symbol": "DCDC2",
                "hgnc_symbol": "DCDC2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:24171984-24358280",
                            "ensembl_id": "ENSG00000146038"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:24171756-24358052",
                            "ensembl_id": "ENSG00000146038"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-05-20"
            },
            "penetrance": null,
            "phenotypes": [
                "Sclerosing cholangitis, neonatal MIM 617394",
                "?Deafness, autosomal recessive 66 MIM 610212",
                "Nephronopthisis 19 MIM 616217"
            ],
            "transcript": null,
            "entity_name": "DCDC2",
            "entity_type": "gene",
            "publications": [
                "25557784"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Amber"
            ],
            "gene_data": {
                "alias": [
                    "EDJ",
                    "HEDJ",
                    "ERdj3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14889",
                "gene_name": "DnaJ heat shock protein family (Hsp40) member B11",
                "omim_gene": [
                    "611341"
                ],
                "alias_name": null,
                "gene_symbol": "DNAJB11",
                "hgnc_symbol": "DNAJB11",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:186285192-186315061",
                            "ensembl_id": "ENSG00000090520"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:186567403-186585800",
                            "ensembl_id": "ENSG00000090520"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-03-09"
            },
            "penetrance": null,
            "phenotypes": [
                "Polycystic kidney disease 6 with or without polycystic liver disease MIM 618061"
            ],
            "transcript": null,
            "entity_name": "DNAJB11",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "2",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Amber"
            ],
            "gene_data": {
                "alias": [
                    "NPHP7"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29450",
                "gene_name": "GLIS family zinc finger 2",
                "omim_gene": [
                    "608539"
                ],
                "alias_name": [
                    "nephrocystin-7"
                ],
                "gene_symbol": "GLIS2",
                "hgnc_symbol": "GLIS2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:4364762-4389598",
                            "ensembl_id": "ENSG00000126603"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:4314761-4339597",
                            "ensembl_id": "ENSG00000126603"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-07-16"
            },
            "penetrance": null,
            "phenotypes": [
                "Nephronopthisis 7 MIM 611498"
            ],
            "transcript": null,
            "entity_name": "GLIS2",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Amber"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:18276",
                "gene_name": "Sec61 translocon alpha 1 subunit",
                "omim_gene": [
                    "609213"
                ],
                "alias_name": null,
                "gene_symbol": "SEC61A1",
                "hgnc_symbol": "SEC61A1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:127770484-127790526",
                            "ensembl_id": "ENSG00000058262"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:128051641-128071683",
                            "ensembl_id": "ENSG00000058262"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-10-13"
            },
            "penetrance": null,
            "phenotypes": [
                "Familial juvenile Hyperuricemic nephropathy-4 MIM 617056"
            ],
            "transcript": null,
            "entity_name": "SEC61A1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "2",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Amber"
            ],
            "gene_data": {
                "alias": [
                    "APP3",
                    "NPHPL1",
                    "ICP55"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:28052",
                "gene_name": "X-prolyl aminopeptidase 3",
                "omim_gene": [
                    "613553"
                ],
                "alias_name": [
                    "Intermediate Cleaving Peptidase 55"
                ],
                "gene_symbol": "XPNPEP3",
                "hgnc_symbol": "XPNPEP3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "22:41253081-41363838",
                            "ensembl_id": "ENSG00000196236"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "22:40857077-40932815",
                            "ensembl_id": "ENSG00000196236"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-08-02"
            },
            "penetrance": null,
            "phenotypes": [
                "Nephronopthisis-like nephropathy 1 MIM 613159"
            ],
            "transcript": null,
            "entity_name": "XPNPEP3",
            "entity_type": "gene",
            "publications": [
                "20179356"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "NHS GMS"
            ],
            "gene_data": {
                "alias": [
                    "KIAA0760",
                    "OAZ",
                    "Roaz",
                    "Ebfaz",
                    "Zfp104",
                    "NPHP14",
                    "JBTS19"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:16762",
                "gene_name": "zinc finger protein 423",
                "omim_gene": [
                    "604557"
                ],
                "alias_name": [
                    "OLF-1/EBF associated zinc finger gene",
                    " Smad- and Olf-interacting zinc finger protein",
                    "early B-cell factor associated zinc finger protein"
                ],
                "gene_symbol": "ZNF423",
                "hgnc_symbol": "ZNF423",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:49521435-49891830",
                            "ensembl_id": "ENSG00000102935"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:49487524-49857919",
                            "ensembl_id": "ENSG00000102935"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-04-06"
            },
            "penetrance": null,
            "phenotypes": [
                "Joubert syndrome 19 MIM 614844",
                "Nephronopthisis 14"
            ],
            "transcript": null,
            "entity_name": "ZNF423",
            "entity_type": "gene",
            "publications": [
                "22863007"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "NHS GMS"
            ],
            "gene_data": {
                "alias": [
                    "NPHP9"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13387",
                "gene_name": "NIMA related kinase 8",
                "omim_gene": [
                    "609799"
                ],
                "alias_name": null,
                "gene_symbol": "NEK8",
                "hgnc_symbol": "NEK8",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:27052915-27070473",
                            "ensembl_id": "ENSG00000160602"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:28725897-28743455",
                            "ensembl_id": "ENSG00000160602"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-10-20"
            },
            "penetrance": null,
            "phenotypes": [
                "?Nephronopthisis 9 MIM 613824"
            ],
            "transcript": null,
            "entity_name": "NEK8",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        }
    ],
    "stats": {
        "number_of_strs": 0,
        "number_of_genes": 25,
        "number_of_regions": 0
    },
    "types": [
        {
            "name": "GMS Rare Disease",
            "slug": "gms-rare-disease",
            "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
        },
        {
            "name": "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."
        }
    ],
    "status": "public",
    "hash_id": null,
    "regions": [],
    "version": "1.3",
    "disease_group": "",
    "version_created": "2020-03-04T10:59:45.500766Z",
    "disease_sub_group": "",
    "relevant_disorders": [
        "R202"
    ],
    "signed_off": "2020-03-04"
}