GET /api/v1/panels/149/?format=api&version=2.2
HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept

{
    "id": 149,
    "name": "Nephrocalcinosis or nephrolithiasis",
    "strs": [],
    "genes": [
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Eligibility statement prior genetic testing",
                "Expert",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services",
                "UKGTN",
                "Emory Genetics Laboratory"
            ],
            "gene_data": {
                "alias": [
                    "AGXT1",
                    "PH1",
                    "AGT",
                    "SPT",
                    "AGT1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:341",
                "gene_name": "alanine-glyoxylate aminotransferase",
                "omim_gene": [
                    "604285"
                ],
                "alias_name": [
                    "oxalosis I",
                    "primary hyperoxaluria type 1",
                    "L-alanine: glyoxylate aminotransferase 1",
                    "serine:pyruvate aminotransferase",
                    "glycolicaciduria"
                ],
                "gene_symbol": "AGXT",
                "hgnc_symbol": "AGXT",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:241807896-241819919",
                            "ensembl_id": "ENSG00000172482"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:240868479-240880502",
                            "ensembl_id": "ENSG00000172482"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1990-11-20"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Primary Hyperoxaluria Type 1",
                "Primary Hyperoxaluria",
                "Hyperoxaluria, primary, type 1, 259900",
                "Hyperoxaluria",
                "primary hyperoxaluria"
            ],
            "transcript": null,
            "entity_name": "AGXT",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:626",
                "gene_name": "adenine phosphoribosyltransferase",
                "omim_gene": [
                    "102600"
                ],
                "alias_name": null,
                "gene_symbol": "APRT",
                "hgnc_symbol": "APRT",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:88875747-88878352",
                            "ensembl_id": "ENSG00000198931"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:88809339-88811944",
                            "ensembl_id": "ENSG00000198931"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Adenine phosphoribosyltransferase deficiency\t614723"
            ],
            "transcript": null,
            "entity_name": "APRT",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Eligibility statement prior genetic testing",
                "Expert"
            ],
            "gene_data": {
                "alias": [
                    "RDRTA2",
                    "VPP2",
                    "RTADR",
                    "a4",
                    "Vph1",
                    "Stv1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:866",
                "gene_name": "ATPase H+ transporting V0 subunit a4",
                "omim_gene": [
                    "605239"
                ],
                "alias_name": null,
                "gene_symbol": "ATP6V0A4",
                "hgnc_symbol": "ATP6V0A4",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:138391040-138484305",
                            "ensembl_id": "ENSG00000105929"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:138706295-138799560",
                            "ensembl_id": "ENSG00000105929"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-05-10"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "distal renal tubular acidosis",
                "Compensated or uncomensated dRTA and/or recurrent stone formation, usually with hypocitraturia. +/- deafness",
                "Renal tubular acidosis, distal, autosomal recessive"
            ],
            "transcript": null,
            "entity_name": "ATP6V0A4",
            "entity_type": "gene",
            "publications": [],
            "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",
                "Eligibility statement prior genetic testing",
                "Expert"
            ],
            "gene_data": {
                "alias": [
                    "VATB",
                    "RTA1B",
                    "Vma2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:853",
                "gene_name": "ATPase H+ transporting V1 subunit B1",
                "omim_gene": [
                    "192132"
                ],
                "alias_name": [
                    "Renal tubular acidosis with deafness"
                ],
                "gene_symbol": "ATP6V1B1",
                "hgnc_symbol": "ATP6V1B1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:71163012-71192536",
                            "ensembl_id": "ENSG00000116039"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:70935882-70965406",
                            "ensembl_id": "ENSG00000116039"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-05-10"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "distal renal tubular acidosis",
                "Renal tubular acidosis with deafness 267300"
            ],
            "transcript": null,
            "entity_name": "ATP6V1B1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
                "alias": [
                    "BART"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:16512",
                "gene_name": "barttin CLCNK type accessory beta subunit",
                "omim_gene": [
                    "606412"
                ],
                "alias_name": null,
                "gene_symbol": "BSND",
                "hgnc_symbol": "BSND",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:55464606-55476556",
                            "ensembl_id": "ENSG00000162399"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:54998933-55010883",
                            "ensembl_id": "ENSG00000162399"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-01-28"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Bartter Syndrome",
                "Bartter syndrome, type 4a, 602522",
                "Sensorineural deafness with mild renal dysfunction, 602522"
            ],
            "transcript": null,
            "entity_name": "BSND",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert"
            ],
            "gene_data": {
                "alias": [
                    "Car2",
                    "CA-II",
                    "CAII"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1373",
                "gene_name": "carbonic anhydrase 2",
                "omim_gene": [
                    "611492"
                ],
                "alias_name": null,
                "gene_symbol": "CA2",
                "hgnc_symbol": "CA2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:86376081-86393722",
                            "ensembl_id": "ENSG00000104267"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "8:85463852-85481493",
                            "ensembl_id": "ENSG00000104267"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Osteopetrosis, autosomal recessive 3, with renal tubular acidosis"
            ],
            "transcript": null,
            "entity_name": "CA2",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Eligibility statement prior genetic testing",
                "Expert",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
                "alias": [
                    "FHH",
                    "NSHPT",
                    "GPRC2A"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1514",
                "gene_name": "calcium sensing receptor",
                "omim_gene": [
                    "601199"
                ],
                "alias_name": [
                    "severe neonatal hyperparathyroidism"
                ],
                "gene_symbol": "CASR",
                "hgnc_symbol": "CASR",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:121902530-122005342",
                            "ensembl_id": "ENSG00000036828"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:122183683-122291629",
                            "ensembl_id": "ENSG00000036828"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-12-04"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Familial Hypocalciuric Hypercalcemia",
                "Hypocalciuric hypercalcemia, type I, 145980Hyperparathyroidism, neonatal, 239200Hypocalcemia, autosomal dominant, 601198Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198{Epilepsy idiopathic generalized, susceptibility to,",
                "Hypocalcemia (dominant)",
                "Familial Hypocalciuric Hypercalcemia (dominant)",
                "hypocalciuric hypercalcaemia"
            ],
            "transcript": null,
            "entity_name": "CASR",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": "Other"
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
                "alias": [
                    "DENTS",
                    "XLRH",
                    "hClC-K2",
                    "hCIC-K2",
                    "CLC5",
                    "XRN",
                    "ClC-5"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2023",
                "gene_name": "chloride voltage-gated channel 5",
                "omim_gene": [
                    "300008"
                ],
                "alias_name": [
                    "Dent disease"
                ],
                "gene_symbol": "CLCN5",
                "hgnc_symbol": "CLCN5",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:49687225-49863892",
                            "ensembl_id": "ENSG00000171365"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:49922615-50099235",
                            "ensembl_id": "ENSG00000171365"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-01-28"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Dent Disease",
                "Dent disease, 300009",
                "Nephrolithiasis, type I, 310468Hypophosphatemic rickets, 300554",
                "Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990",
                "Nephrocalcinosis with low molecular weight proteinuria and pregressive CKD"
            ],
            "transcript": null,
            "entity_name": "CLCN5",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "hClC-Kb"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2027",
                "gene_name": "chloride voltage-gated channel Kb",
                "omim_gene": [
                    "602023"
                ],
                "alias_name": null,
                "gene_symbol": "CLCNKB",
                "hgnc_symbol": "CLCNKB",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:16370272-16383803",
                            "ensembl_id": "ENSG00000184908"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:16043736-16057308",
                            "ensembl_id": "ENSG00000184908"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-12-11"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Bartter syndrome, type 3, 607364",
                "Type 3 Bartter syndrome",
                "Bartter syndrome, type 4b, digenic, 613090",
                "BARTTER SYNDROME TYPE 4B"
            ],
            "transcript": null,
            "entity_name": "CLCNKB",
            "entity_type": "gene",
            "publications": [
                "28018459",
                "23550235"
            ],
            "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",
                "Expert"
            ],
            "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"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-01-07"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Hypomagnesemia 3, renal"
            ],
            "transcript": null,
            "entity_name": "CLDN16",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert"
            ],
            "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"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-03-15"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "hypomagensemia with nephrocalcinosis",
                "Hypomagnesemia 5, renal, with ocular involvement"
            ],
            "transcript": null,
            "entity_name": "CLDN19",
            "entity_type": "gene",
            "publications": [
                "PMID: 17033971"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
                "alias": [
                    "CP24",
                    "P450-CC24"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2602",
                "gene_name": "cytochrome P450 family 24 subfamily A member 1",
                "omim_gene": [
                    "126065"
                ],
                "alias_name": null,
                "gene_symbol": "CYP24A1",
                "hgnc_symbol": "CYP24A1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "20:52769988-52790512",
                            "ensembl_id": "ENSG00000019186"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "20:54153449-54173973",
                            "ensembl_id": "ENSG00000019186"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-02-28"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Infantile Hypercalcemia",
                "Hypercalcemia, infantile, 143880",
                "Infantile hypercalcaemia"
            ],
            "transcript": null,
            "entity_name": "CYP24A1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert"
            ],
            "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"
                        }
                    },
                    "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"
            ],
            "transcript": null,
            "entity_name": "FAM20A",
            "entity_type": "gene",
            "publications": [
                "23468644",
                "30394349",
                "28298625",
                "22732358"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Eligibility statement prior genetic testing",
                "Expert",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                "Illumina TruGenome Clinical Sequencing Services",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "PH2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4570",
                "gene_name": "glyoxylate and hydroxypyruvate reductase",
                "omim_gene": [
                    "604296"
                ],
                "alias_name": [
                    "primary hyperoxaluria type 2"
                ],
                "gene_symbol": "GRHPR",
                "hgnc_symbol": "GRHPR",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:37422663-37436987",
                            "ensembl_id": "ENSG00000137106"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:37422666-37436990",
                            "ensembl_id": "ENSG00000137106"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-03-26"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Primary Hyperoxaluria",
                "Primary Hyperoxaluria Type 2",
                "Hyperoxaluria, primary, type II, 260000",
                "Hyperoxaluria"
            ],
            "transcript": null,
            "entity_name": "GRHPR",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Eligibility statement prior genetic testing",
                "Expert",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "FLJ37472",
                    "DHDPS2",
                    "NPL2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25155",
                "gene_name": "4-hydroxy-2-oxoglutarate aldolase 1",
                "omim_gene": [
                    "613597"
                ],
                "alias_name": [
                    "dihydrodipicolinate synthetase homolog 2 (E. coli)",
                    "N-acetylneuraminate pyruvate lyase 2 (putative)"
                ],
                "gene_symbol": "HOGA1",
                "hgnc_symbol": "HOGA1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:99344080-99372559",
                            "ensembl_id": "ENSG00000241935"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:97584323-97612802",
                            "ensembl_id": "ENSG00000241935"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2010-12-19"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Primary Hyperoxaluria",
                "Hyperoxaluria, primary, type III, 613616",
                "Hyperoxaluria"
            ],
            "transcript": null,
            "entity_name": "HOGA1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert"
            ],
            "gene_data": {
                "alias": [
                    "HGPRT"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:5157",
                "gene_name": "hypoxanthine phosphoribosyltransferase 1",
                "omim_gene": [
                    "308000"
                ],
                "alias_name": [
                    "Lesch-Nyhan syndrome"
                ],
                "gene_symbol": "HPRT1",
                "hgnc_symbol": "HPRT1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:133594183-133654543",
                            "ensembl_id": "ENSG00000165704"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:134460153-134520513",
                            "ensembl_id": "ENSG00000165704"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Lesch-Nyhan syndrome, 300322"
            ],
            "transcript": null,
            "entity_name": "HPRT1",
            "entity_type": "gene",
            "publications": [
                "31129767",
                "27079129"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "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"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:128836315-128867373",
                            "ensembl_id": "ENSG00000151704"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-08-03"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Antenatal Bartter Syndrome",
                "Bartter syndrome, type 2, 241200",
                "Type 2 Bartter syndrome",
                "often initial transient hyperkalemia"
            ],
            "transcript": null,
            "entity_name": "KCNJ1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "OCRL1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8108",
                "gene_name": "OCRL, inositol polyphosphate-5-phosphatase",
                "omim_gene": [
                    "300535"
                ],
                "alias_name": null,
                "gene_symbol": "OCRL",
                "hgnc_symbol": "OCRL",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:128673826-128726538",
                            "ensembl_id": "ENSG00000122126"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:129539849-129592561",
                            "ensembl_id": "ENSG00000122126"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Lowe syndrome, 309000",
                "Dent disease 2, 300555",
                "As for CLCN5 (Nephrocalcinosis with low molecular weight proteinuria and pregressive CKD) but may include intellectual disability and other features of Lowe syndrome"
            ],
            "transcript": null,
            "entity_name": "OCRL",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Literature",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "PEX",
                    "HPDR1",
                    "HYP1",
                    "XLH"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8918",
                "gene_name": "phosphate regulating endopeptidase homolog X-linked",
                "omim_gene": [
                    "300550"
                ],
                "alias_name": null,
                "gene_symbol": "PHEX",
                "hgnc_symbol": "PHEX",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:22050559-22269427",
                            "ensembl_id": "ENSG00000102174"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:22032441-22251310",
                            "ensembl_id": "ENSG00000102174"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-06"
            },
            "penetrance": null,
            "phenotypes": [
                "Hypophosphatemic rickets, X-linked dominant 307800"
            ],
            "transcript": null,
            "entity_name": "PHEX",
            "entity_type": "gene",
            "publications": [
                "31514490",
                "29460029"
            ],
            "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": null
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
                "alias": [
                    "NKCC2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10910",
                "gene_name": "solute carrier family 12 member 1",
                "omim_gene": [
                    "600839"
                ],
                "alias_name": null,
                "gene_symbol": "SLC12A1",
                "hgnc_symbol": "SLC12A1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:48483861-48596275",
                            "ensembl_id": "ENSG00000074803"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:48191664-48304078",
                            "ensembl_id": "ENSG00000074803"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-02-16"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Type 1 Bartter syndrome: infantile onset, pregnancy noted for polyhydramnios",
                "Hyperprostagladinuria",
                "Hypokalaemia and metabolic alkalosis +/- nephrocalcinosis",
                "Antenatal Bartter Syndrome",
                "Bartter syndrome, type 1, 601678"
            ],
            "transcript": null,
            "entity_name": "SLC12A1",
            "entity_type": "gene",
            "publications": [
                "PMID: 21631963",
                "21189980",
                "20219833",
                "19513753",
                "19096086",
                "18830715",
                "17998760",
                "16807401"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert"
            ],
            "gene_data": {
                "alias": [
                    "OAT4L",
                    "RST",
                    "URAT1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17989",
                "gene_name": "solute carrier family 22 member 12",
                "omim_gene": [
                    "607096"
                ],
                "alias_name": null,
                "gene_symbol": "SLC22A12",
                "hgnc_symbol": "SLC22A12",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:64358113-64369820",
                            "ensembl_id": "ENSG00000197891"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:64590641-64602353",
                            "ensembl_id": "ENSG00000197891"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-07-31"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Hypouricemia, renal, 220150"
            ],
            "transcript": null,
            "entity_name": "SLC22A12",
            "entity_type": "gene",
            "publications": [
                "29486147",
                "29958533",
                "18492088",
                "15912381"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert"
            ],
            "gene_data": {
                "alias": [
                    "Glut9",
                    "GLUTX",
                    "URATv1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13446",
                "gene_name": "solute carrier family 2 member 9",
                "omim_gene": [
                    "606142"
                ],
                "alias_name": [
                    "urate voltage-driven efflux transporter 1"
                ],
                "gene_symbol": "SLC2A9",
                "hgnc_symbol": "SLC2A9",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:9772777-10056560",
                            "ensembl_id": "ENSG00000109667"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:9771153-10054936",
                            "ensembl_id": "ENSG00000109667"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-09-28"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Hypouricemia, renal, 2, 612076"
            ],
            "transcript": null,
            "entity_name": "SLC2A9",
            "entity_type": "gene",
            "publications": [
                "19926891",
                "21256783",
                "19026395",
                "21810765",
                "29486147",
                "24940677"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "NAPI-3",
                    "NPTIIa",
                    "SLC11"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11019",
                "gene_name": "solute carrier family 34 member 1",
                "omim_gene": [
                    "182309"
                ],
                "alias_name": [
                    "sodium/phosphate co-transporter",
                    "solute carrier family 17 (sodium phosphate), member 2",
                    "Na+-phosphate cotransporter type II"
                ],
                "gene_symbol": "SLC34A1",
                "hgnc_symbol": "SLC34A1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:176806236-176825849",
                            "ensembl_id": "ENSG00000131183"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:177379235-177398848",
                            "ensembl_id": "ENSG00000131183"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-05-25"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286",
                "Hypophosphatemic Nephrolithiasis/Osteoporosis",
                "Hypophosphatemic Nephrolithiasis/Osteoporosis (recessive)",
                "Nephrolithiasis with osteoporosis and hypophosphatemia",
                "Nephrolithiasis with osteoporosis and hypophosphatemia"
            ],
            "transcript": null,
            "entity_name": "SLC34A1",
            "entity_type": "gene",
            "publications": [
                "PMID: 26047794",
                "25050900",
                "12324554"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "NPTIIc",
                    "FLJ38680"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:20305",
                "gene_name": "solute carrier family 34 member 3",
                "omim_gene": [
                    "609826"
                ],
                "alias_name": null,
                "gene_symbol": "SLC34A3",
                "hgnc_symbol": "SLC34A3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:140125209-140131006",
                            "ensembl_id": "ENSG00000198569"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:137230757-137236554",
                            "ensembl_id": "ENSG00000198569"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-08-08"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Hypophosphatemic rickets with hypercalciuria, 241530",
                "HHRH",
                "recent publication added nephrolithiasis."
            ],
            "transcript": null,
            "entity_name": "SLC34A3",
            "entity_type": "gene",
            "publications": [
                "PMID: 25296721",
                "26543054",
                "24924704",
                "24700880"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Eligibility statement prior genetic testing",
                "Expert"
            ],
            "gene_data": {
                "alias": [
                    "CSNU1",
                    "D2H",
                    "RBAT",
                    "ATR1",
                    "NBAT"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11025",
                "gene_name": "solute carrier family 3 member 1",
                "omim_gene": [
                    "104614"
                ],
                "alias_name": null,
                "gene_symbol": "SLC3A1",
                "hgnc_symbol": "SLC3A1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:44502599-44548633",
                            "ensembl_id": "ENSG00000138079"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:44275458-44321494",
                            "ensembl_id": "ENSG00000138079"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-12-16"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Cystinuria 220100"
            ],
            "transcript": null,
            "entity_name": "SLC3A1",
            "entity_type": "gene",
            "publications": [],
            "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",
                "Eligibility statement prior genetic testing",
                "Expert"
            ],
            "gene_data": {
                "alias": [
                    "RTA1A",
                    "CD233",
                    "FR",
                    "SW",
                    "WR"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11027",
                "gene_name": "solute carrier family 4 member 1 (Diego blood group)",
                "omim_gene": [
                    "109270"
                ],
                "alias_name": [
                    "Froese blood group",
                    "Swann blood group",
                    "Wright blood group"
                ],
                "gene_symbol": "SLC4A1",
                "hgnc_symbol": "SLC4A1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:42325753-42345509",
                            "ensembl_id": "ENSG00000004939"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:44248385-44268141",
                            "ensembl_id": "ENSG00000004939"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1988-04-20"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "distal renal tubular acidosis",
                "Renal tubular acidosis, distal, AD, 179800",
                "Renal tubular acidosis, distal, AR 611590"
            ],
            "transcript": null,
            "entity_name": "SLC4A1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Eligibility statement prior genetic testing",
                "Expert"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11067",
                "gene_name": "solute carrier family 7 member 9",
                "omim_gene": [
                    "604144"
                ],
                "alias_name": null,
                "gene_symbol": "SLC7A9",
                "hgnc_symbol": "SLC7A9",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:33321415-33360672",
                            "ensembl_id": "ENSG00000021488"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:32830509-32869766",
                            "ensembl_id": "ENSG00000021488"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-09-16"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Cystinuria 220100"
            ],
            "transcript": null,
            "entity_name": "SLC7A9",
            "entity_type": "gene",
            "publications": [],
            "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",
                "Other"
            ],
            "gene_data": {
                "alias": [
                    "NY-BR-96",
                    "LYK5",
                    "Stlk",
                    "STRAD"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:30172",
                "gene_name": "STE20-related kinase adaptor alpha",
                "omim_gene": [
                    "608626"
                ],
                "alias_name": [
                    "STE20-like pseudokinase"
                ],
                "gene_symbol": "STRADA",
                "hgnc_symbol": "STRADA",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:61780192-61819330",
                            "ensembl_id": "ENSG00000266173"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:63682336-63741986",
                            "ensembl_id": "ENSG00000266173"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2008-09-15"
            },
            "penetrance": null,
            "phenotypes": [
                "Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087"
            ],
            "transcript": null,
            "entity_name": "STRADA",
            "entity_type": "gene",
            "publications": [
                "27170158",
                "17522105",
                "28688840"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": null
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert"
            ],
            "gene_data": {
                "alias": [
                    "XOR",
                    "XO"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12805",
                "gene_name": "xanthine dehydrogenase",
                "omim_gene": [
                    "607633"
                ],
                "alias_name": null,
                "gene_symbol": "XDH",
                "hgnc_symbol": "XDH",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:31557187-31637581",
                            "ensembl_id": "ENSG00000158125"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:31334321-31414715",
                            "ensembl_id": "ENSG00000158125"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-04-08"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Xanthinuria, type I, 278300"
            ],
            "transcript": null,
            "entity_name": "XDH",
            "entity_type": "gene",
            "publications": [
                "27604308",
                "9153281"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "Expert"
            ],
            "gene_data": {
                "alias": [
                    "NR2A1",
                    "HNF4"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:5024",
                "gene_name": "hepatocyte nuclear factor 4 alpha",
                "omim_gene": [
                    "600281"
                ],
                "alias_name": null,
                "gene_symbol": "HNF4A",
                "hgnc_symbol": "HNF4A",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "20:42984340-43061485",
                            "ensembl_id": "ENSG00000101076"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "20:44355700-44434596",
                            "ensembl_id": "ENSG00000101076"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-04-20"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, 616026"
            ],
            "transcript": null,
            "entity_name": "HNF4A",
            "entity_type": "gene",
            "publications": [
                "24285859",
                "25819479"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "Expert",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "NHERF",
                    "EBP50",
                    "NHERF1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11075",
                "gene_name": "SLC9A3 regulator 1",
                "omim_gene": [
                    "604990"
                ],
                "alias_name": null,
                "gene_symbol": "SLC9A3R1",
                "hgnc_symbol": "SLC9A3R1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:72744791-72765492",
                            "ensembl_id": "ENSG00000109062"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:74748652-74769353",
                            "ensembl_id": "ENSG00000109062"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-02-26"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Nephrolithiasis/osteoporosis, hypophosphatemic, 2, 612287"
            ],
            "transcript": null,
            "entity_name": "SLC9A3R1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "2",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Expert"
            ],
            "gene_data": {
                "alias": [
                    "SAC",
                    "Sacy",
                    "SACI",
                    "HCA2",
                    "RP1-313L4.2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21285",
                "gene_name": "adenylate cyclase 10",
                "omim_gene": [
                    "605205"
                ],
                "alias_name": [
                    "soluble adenylyl cyclase",
                    "Hypercalciuria, absorptive, 2"
                ],
                "gene_symbol": "ADCY10",
                "hgnc_symbol": "ADCY10",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:167778625-167883453",
                            "ensembl_id": "ENSG00000143199"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:167809388-167914215",
                            "ensembl_id": "ENSG00000143199"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2008-01-16"
            },
            "penetrance": "Complete",
            "phenotypes": [],
            "transcript": null,
            "entity_name": "ADCY10",
            "entity_type": "gene",
            "publications": [
                "PMID: 24907563 (review)"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "FLJ10842"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21869",
                "gene_name": "acylglycerol kinase",
                "omim_gene": [
                    "610345"
                ],
                "alias_name": null,
                "gene_symbol": "AGK",
                "hgnc_symbol": "AGK",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:141250989-141355044",
                            "ensembl_id": "ENSG00000006530"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:141551189-141655244",
                            "ensembl_id": "ENSG00000006530"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-01-11"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Hyperoxaluria, primary, type 1, 259900"
            ],
            "transcript": null,
            "entity_name": "AGK",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "FBHOk",
                    "FBH3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:565",
                "gene_name": "adaptor related protein complex 2 sigma 1 subunit",
                "omim_gene": [
                    "602242"
                ],
                "alias_name": null,
                "gene_symbol": "AP2S1",
                "hgnc_symbol": "AP2S1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:47341393-47354249",
                            "ensembl_id": "ENSG00000042753"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:46838136-46850992",
                            "ensembl_id": "ENSG00000042753"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-09-01"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Hypocalciuric hypercalcemia, familial, type III, 600740",
                "Familial hypocalciuric hypercalcemia type III"
            ],
            "transcript": null,
            "entity_name": "AP2S1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "hClC-Ka"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2026",
                "gene_name": "chloride voltage-gated channel Ka",
                "omim_gene": [
                    "602024"
                ],
                "alias_name": null,
                "gene_symbol": "CLCNKA",
                "hgnc_symbol": "CLCNKA",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:16345370-16360545",
                            "ensembl_id": "ENSG00000186510"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:16018875-16034050",
                            "ensembl_id": "ENSG00000186510"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-12-11"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Bartter syndrome, type 4b, digenic, 613090"
            ],
            "transcript": null,
            "entity_name": "CLCNKA",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "watchlist"
            ],
            "evidence": [
                "Expert list"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3680",
                "gene_name": "fibroblast growth factor 23",
                "omim_gene": [
                    "605380"
                ],
                "alias_name": null,
                "gene_symbol": "FGF23",
                "hgnc_symbol": "FGF23",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:4477393-4488894",
                            "ensembl_id": "ENSG00000118972"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:4368227-4379728",
                            "ensembl_id": "ENSG00000118972"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-05-16"
            },
            "penetrance": null,
            "phenotypes": [],
            "transcript": null,
            "entity_name": "FGF23",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": null
        },
        {
            "tags": [],
            "evidence": [
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "FBH",
                    "FBH2",
                    "FHH2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4379",
                "gene_name": "G protein subunit alpha 11",
                "omim_gene": [
                    "139313"
                ],
                "alias_name": null,
                "gene_symbol": "GNA11",
                "hgnc_symbol": "GNA11",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:3094408-3124002",
                            "ensembl_id": "ENSG00000088256"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:3094410-3124004",
                            "ensembl_id": "ENSG00000088256"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-07-20"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Hypocalciuric hypercalcemia, type II, 145981"
            ],
            "transcript": null,
            "entity_name": "GNA11",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert"
            ],
            "gene_data": {
                "alias": [
                    "PAT2",
                    "tramdorin",
                    "TRAMD1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:18762",
                "gene_name": "solute carrier family 36 member 2",
                "omim_gene": [
                    "608331"
                ],
                "alias_name": null,
                "gene_symbol": "SLC36A2",
                "hgnc_symbol": "SLC36A2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:150694539-150727151",
                            "ensembl_id": "ENSG00000186335"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:151314978-151347590",
                            "ensembl_id": "ENSG00000186335"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-01-13"
            },
            "penetrance": "Complete",
            "phenotypes": [],
            "transcript": null,
            "entity_name": "SLC36A2",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:27960",
                "gene_name": "solute carrier family 6 member 19",
                "omim_gene": [
                    "608893"
                ],
                "alias_name": [
                    "Hartnup disease"
                ],
                "gene_symbol": "SLC6A19",
                "hgnc_symbol": "SLC6A19",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:1201710-1225232",
                            "ensembl_id": "ENSG00000174358"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:1201595-1225117",
                            "ensembl_id": "ENSG00000174358"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-04-02"
            },
            "penetrance": "Complete",
            "phenotypes": [],
            "transcript": null,
            "entity_name": "SLC6A19",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert"
            ],
            "gene_data": {
                "alias": [
                    "XT3",
                    "Xtrp3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:30927",
                "gene_name": "solute carrier family 6 member 20",
                "omim_gene": [
                    "605616"
                ],
                "alias_name": null,
                "gene_symbol": "SLC6A20",
                "hgnc_symbol": "SLC6A20",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:45796942-45838027",
                            "ensembl_id": "ENSG00000163817"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:45755450-45796535",
                            "ensembl_id": "ENSG00000163817"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-04-02"
            },
            "penetrance": "Complete",
            "phenotypes": [],
            "transcript": null,
            "entity_name": "SLC6A20",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11073",
                "gene_name": "solute carrier family 9 member A3",
                "omim_gene": [
                    "182307"
                ],
                "alias_name": null,
                "gene_symbol": "SLC9A3",
                "hgnc_symbol": "SLC9A3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:473425-524447",
                            "ensembl_id": "ENSG00000066230"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:473310-524332",
                            "ensembl_id": "ENSG00000066230"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-06-12"
            },
            "penetrance": "Complete",
            "phenotypes": [],
            "transcript": null,
            "entity_name": "SLC9A3",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
                "alias": [
                    "CHAK2",
                    "FLJ22628"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17995",
                "gene_name": "transient receptor potential cation channel subfamily M member 6",
                "omim_gene": [
                    "607009"
                ],
                "alias_name": null,
                "gene_symbol": "TRPM6",
                "hgnc_symbol": "TRPM6",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:77337411-77503010",
                            "ensembl_id": "ENSG00000119121"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:74722495-74888094",
                            "ensembl_id": "ENSG00000119121"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-01-11"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Hypomagnesemia with Secondary Hypocalcemia"
            ],
            "transcript": null,
            "entity_name": "TRPM6",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert"
            ],
            "gene_data": {
                "alias": [
                    "NR1I1",
                    "PPP1R163"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12679",
                "gene_name": "vitamin D receptor",
                "omim_gene": [
                    "601769"
                ],
                "alias_name": [
                    "protein phosphatase 1, regulatory subunit 163",
                    "1,25- dihydroxyvitamin D3 receptor"
                ],
                "gene_symbol": "VDR",
                "hgnc_symbol": "VDR",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:48235320-48336831",
                            "ensembl_id": "ENSG00000111424"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:47841537-47943048",
                            "ensembl_id": "ENSG00000111424"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1989-06-30"
            },
            "penetrance": "Complete",
            "phenotypes": [],
            "transcript": null,
            "entity_name": "VDR",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Expert"
            ],
            "gene_data": {
                "alias": [
                    "KIAA0844",
                    "UAN"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:18194",
                "gene_name": "zinc finger protein 365",
                "omim_gene": [
                    "607818"
                ],
                "alias_name": [
                    "Talanin"
                ],
                "gene_symbol": "ZNF365",
                "hgnc_symbol": "ZNF365",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:64133951-64431771",
                            "ensembl_id": "ENSG00000138311"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:62374192-62672011",
                            "ensembl_id": "ENSG00000138311"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-06-13"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Possible cause of uric acid stones",
                "{Nephrolithiasis, uric acid, susceptibility to}"
            ],
            "transcript": null,
            "entity_name": "ZNF365",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "SAT-1",
                    "EDM4"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10993",
                "gene_name": "solute carrier family 26 member 1",
                "omim_gene": [
                    "610130"
                ],
                "alias_name": null,
                "gene_symbol": "SLC26A1",
                "hgnc_symbol": "SLC26A1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:972861-987228",
                            "ensembl_id": "ENSG00000145217"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:979073-993440",
                            "ensembl_id": "ENSG00000145217"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-07-30"
            },
            "penetrance": null,
            "phenotypes": [
                "Nephrolithiasis, calcium oxalate, MIM#167030"
            ],
            "transcript": null,
            "entity_name": "SLC26A1",
            "entity_type": "gene",
            "publications": [
                "27210743",
                "27210743",
                "20160351"
            ],
            "confidence_level": "0",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": null
        }
    ],
    "stats": {
        "number_of_strs": 0,
        "number_of_genes": 45,
        "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)"
        },
        {
            "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": "553f94d5bb5a1616e5ed45a5",
    "regions": [],
    "version": "2.2",
    "disease_group": "Renal and urinary tract disorders",
    "version_created": "2020-02-13T11:37:37.422323Z",
    "disease_sub_group": "Disorders of function",
    "relevant_disorders": [
        "Renal tract calcification (or Nephrolithiasis or nephrocalcinosis)",
        "Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)",
        "R256"
    ],
    "signed_off": "2020-02-13"
}