GET /api/v1/panels/149/?version=2.2
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{
    "id": 149,
    "name": "Nephrocalcinosis or nephrolithiasis",
    "strs": [],
    "genes": [
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        {
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                "Bartter Syndrome",
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            "evidence": [
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            "penetrance": "Complete",
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                "Osteopetrosis, autosomal recessive 3, with renal tubular acidosis"
            ],
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            "mode_of_pathogenicity": ""
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        {
            "tags": [],
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                "Expert",
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                "omim_gene": [
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                "hgnc_symbol": "CASR",
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                "Nephrolithiasis, type I, 310468Hypophosphatemic rickets, 300554",
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        {
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                "Expert Review Green",
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                "Hypomagnesemia 3, renal"
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            "entity_name": "CLDN16",
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            "penetrance": "Complete",
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                "hypomagensemia with nephrocalcinosis",
                "Hypomagnesemia 5, renal, with ocular involvement"
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            "penetrance": "Complete",
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                "Hypercalcemia, infantile, 143880",
                "Infantile hypercalcaemia"
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            "phenotypes": [
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                "Primary Hyperoxaluria Type 2",
                "Hyperoxaluria, primary, type II, 260000",
                "Hyperoxaluria"
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                "Illumina TruGenome Clinical Sequencing Services",
                "UKGTN"
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            "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",
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        },
        {
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            "evidence": [
                "Expert Review Green",
                "Expert"
            ],
            "gene_data": {
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                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:5157",
                "gene_name": "hypoxanthine phosphoribosyltransferase 1",
                "omim_gene": [
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                ],
                "alias_name": [
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                ],
                "gene_symbol": "HPRT1",
                "hgnc_symbol": "HPRT1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "ensembl_id": "ENSG00000165704"
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                    },
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                            "ensembl_id": "ENSG00000165704"
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            },
            "penetrance": "Complete",
            "phenotypes": [
                "Lesch-Nyhan syndrome, 300322"
            ],
            "transcript": null,
            "entity_name": "HPRT1",
            "entity_type": "gene",
            "publications": [
                "31129767",
                "27079129"
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            "confidence_level": "3",
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "mode_of_pathogenicity": ""
        },
        {
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            "evidence": [
                "Expert Review Green",
                "Expert",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
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                    "ROMK1"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6255",
                "gene_name": "potassium voltage-gated channel subfamily J member 1",
                "omim_gene": [
                    "600359"
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                "alias_name": null,
                "gene_symbol": "KCNJ1",
                "hgnc_symbol": "KCNJ1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "11:128706210-128737268",
                            "ensembl_id": "ENSG00000151704"
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                    },
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                            "ensembl_id": "ENSG00000151704"
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                    }
                },
                "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": ""
        },
        {
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            "evidence": [
                "Expert Review Green",
                "Expert",
                "Radboud University Medical Center, Nijmegen"
            ],
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8108",
                "gene_name": "OCRL, inositol polyphosphate-5-phosphatase",
                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "OCRL",
                "hgnc_symbol": "OCRL",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "X:128673826-128726538",
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                    },
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                            "ensembl_id": "ENSG00000122126"
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                "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": {
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                    "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"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "X:22032441-22251310",
                            "ensembl_id": "ENSG00000102174"
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                    }
                },
                "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": {
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                ],
                "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"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "15:48191664-48304078",
                            "ensembl_id": "ENSG00000074803"
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                    }
                },
                "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": [
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                "21189980",
                "20219833",
                "19513753",
                "19096086",
                "18830715",
                "17998760",
                "16807401"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert"
            ],
            "gene_data": {
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                    "RST",
                    "URAT1"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17989",
                "gene_name": "solute carrier family 22 member 12",
                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "SLC22A12",
                "hgnc_symbol": "SLC22A12",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                        "82": {
                            "location": "11:64358113-64369820",
                            "ensembl_id": "ENSG00000197891"
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                    },
                    "GRch38": {
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                            "location": "11:64590641-64602353",
                            "ensembl_id": "ENSG00000197891"
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                    }
                },
                "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"
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            "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"
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                "alias_name": [
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                ],
                "gene_symbol": "SLC2A9",
                "hgnc_symbol": "SLC2A9",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                        "82": {
                            "location": "4:9772777-10056560",
                            "ensembl_id": "ENSG00000109667"
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                            "ensembl_id": "ENSG00000109667"
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                "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"
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            "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": [
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                    "NPTIIa",
                    "SLC11"
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                "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": {
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                        "82": {
                            "location": "5:176806236-176825849",
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                    },
                    "GRch38": {
                        "90": {
                            "location": "5:177379235-177398848",
                            "ensembl_id": "ENSG00000131183"
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                "hgnc_date_symbol_changed": "1994-05-25"
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            "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"
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            "transcript": null,
            "entity_name": "SLC34A1",
            "entity_type": "gene",
            "publications": [
                "PMID: 26047794",
                "25050900",
                "12324554"
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            "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": [
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                    "FLJ38680"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:20305",
                "gene_name": "solute carrier family 34 member 3",
                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "SLC34A3",
                "hgnc_symbol": "SLC34A3",
                "hgnc_release": "2017-11-03T00:00:00",
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                            "location": "9:140125209-140131006",
                            "ensembl_id": "ENSG00000198569"
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                    },
                    "GRch38": {
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                            "location": "9:137230757-137236554",
                            "ensembl_id": "ENSG00000198569"
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                "hgnc_date_symbol_changed": "2003-08-08"
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            "penetrance": "Complete",
            "phenotypes": [
                "Hypophosphatemic rickets with hypercalciuria, 241530",
                "HHRH",
                "recent publication added nephrolithiasis."
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            "transcript": null,
            "entity_name": "SLC34A3",
            "entity_type": "gene",
            "publications": [
                "PMID: 25296721",
                "26543054",
                "24924704",
                "24700880"
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            "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"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11025",
                "gene_name": "solute carrier family 3 member 1",
                "omim_gene": [
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                ],
                "alias_name": null,
                "gene_symbol": "SLC3A1",
                "hgnc_symbol": "SLC3A1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "2:44502599-44548633",
                            "ensembl_id": "ENSG00000138079"
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                    },
                    "GRch38": {
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                            "location": "2:44275458-44321494",
                            "ensembl_id": "ENSG00000138079"
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                },
                "hgnc_date_symbol_changed": "1993-12-16"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Cystinuria 220100"
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            "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",
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        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Eligibility statement prior genetic testing",
                "Expert"
            ],
            "gene_data": {
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                    "CD233",
                    "FR",
                    "SW",
                    "WR"
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                "gene_name": "solute carrier family 4 member 1 (Diego blood group)",
                "omim_gene": [
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                "alias_name": [
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                    "Swann blood group",
                    "Wright blood group"
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                "hgnc_symbol": "SLC4A1",
                "hgnc_release": "2017-11-03T00:00:00",
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                "hgnc_date_symbol_changed": "1988-04-20"
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            "penetrance": "Complete",
            "phenotypes": [
                "distal renal tubular acidosis",
                "Renal tubular acidosis, distal, AD, 179800",
                "Renal tubular acidosis, distal, AR 611590"
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            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
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            "evidence": [
                "Expert Review Green",
                "Eligibility statement prior genetic testing",
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            ],
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                "hgnc_id": "HGNC:11067",
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                "omim_gene": [
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                            "ensembl_id": "ENSG00000021488"
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                "hgnc_date_symbol_changed": "1999-09-16"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Cystinuria 220100"
            ],
            "transcript": null,
            "entity_name": "SLC7A9",
            "entity_type": "gene",
            "publications": [],
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            "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
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            "evidence": [
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                "Other"
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                    "LYK5",
                    "Stlk",
                    "STRAD"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:30172",
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                "hgnc_symbol": "STRADA",
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            "phenotypes": [
                "Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087"
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                "Expert"
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                "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"
}