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{
    "id": 472,
    "name": "Monogenic diabetes",
    "strs": [],
    "genes": [
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "HI",
                    "PHHI",
                    "SUR1",
                    "MRP8",
                    "ABC36",
                    "HHF1",
                    "TNDM2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:59",
                "gene_name": "ATP binding cassette subfamily C member 8",
                "omim_gene": [
                    "600509"
                ],
                "alias_name": [
                    "sulfonylurea receptor (hyperinsulinemia)"
                ],
                "gene_symbol": "ABCC8",
                "hgnc_symbol": "ABCC8",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:17414432-17498449",
                            "ensembl_id": "ENSG00000006071"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:17392885-17476845",
                            "ensembl_id": "ENSG00000006071"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-01-10"
            },
            "penetrance": null,
            "phenotypes": [
                "Diabetes mellitus, permanent neonatal, 6",
                "Transient Neonatal Diabetes, Dominant",
                "transient neonatal diabetes (Dominant)",
                "Diabetes mellitus, noninsulin-dependent, 125853",
                "DIABETES MELLITUS, NONINSULIN-DEPENDENT",
                "Diabetes mellitus, transient neonatal 2,  610374",
                "Hyperinsulinemic hypoglycemia, familial, 1, 256450",
                "Hypoglycemia of infancy, leucine-sensitive, 240800",
                "Permanent neonatal diabetes mellitus",
                "Permanent Neonatal Diabetes Mellitus (recessive)",
                "Hyperinsulinemic hypoglycemia, familial, 1, 256450Hypoglycemia of infancy, leucine-sensitive, 240800Diabetes mellitus, transient neonatal 2,  610374Diabetes mellitus, noninsulin-dependent, 125853Diabetes mellitus, permanent neonatal, 6",
                "Permanent Neonatal Diabetes Mellitus"
            ],
            "transcript": null,
            "entity_name": "ABCC8",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments"
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "NHS GMS"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:392",
                "gene_name": "AKT serine/threonine kinase 2",
                "omim_gene": [
                    "164731"
                ],
                "alias_name": null,
                "gene_symbol": "AKT2",
                "hgnc_symbol": "AKT2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:40736224-40791443",
                            "ensembl_id": "ENSG00000105221"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:40230317-40285536",
                            "ensembl_id": "ENSG00000105221"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-11-05"
            },
            "penetrance": null,
            "phenotypes": [
                "Diabetes mellitus, type II, 125853",
                "Severe insulin resistance, partial lipodystrophy and diabetes"
            ],
            "transcript": null,
            "entity_name": "AKT2",
            "entity_type": "gene",
            "publications": [
                "17576055",
                "17327441",
                "15166380"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "NHS GMS"
            ],
            "gene_data": {
                "alias": [
                    "APPL"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:24035",
                "gene_name": "adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1",
                "omim_gene": [
                    "604299"
                ],
                "alias_name": [
                    "DCC-interacting protein 13-alpha"
                ],
                "gene_symbol": "APPL1",
                "hgnc_symbol": "APPL1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:57261765-57307496",
                            "ensembl_id": "ENSG00000157500"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:57227737-57273468",
                            "ensembl_id": "ENSG00000157500"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-01-26"
            },
            "penetrance": null,
            "phenotypes": [
                "{Maturity-onset diabetes of the young, type 14}, 616511",
                "Diabetes"
            ],
            "transcript": null,
            "entity_name": "APPL1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "NHS GMS"
            ],
            "gene_data": {
                "alias": [
                    "BSSL",
                    "MODY8"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1848",
                "gene_name": "carboxyl ester lipase",
                "omim_gene": [
                    "114840"
                ],
                "alias_name": [
                    "bile salt-stimulated lipase"
                ],
                "gene_symbol": "CEL",
                "hgnc_symbol": "CEL",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:135937365-135947248",
                            "ensembl_id": "ENSG00000170835"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:133061978-133071861",
                            "ensembl_id": "ENSG00000170835"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1990-12-19"
            },
            "penetrance": null,
            "phenotypes": [
                "Maturity-onset diabetes of the young, type VIII, 609812",
                "Diabetes and pancreatic exocrine dysfunction"
            ],
            "transcript": null,
            "entity_name": "CEL",
            "entity_type": "gene",
            "publications": [
                "16369531",
                "24062244",
                "21784842",
                "19760265",
                "18544793",
                "17989309",
                "27650499",
                "25160620"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "Miner1",
                    "ERIS",
                    "NAF-1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:24212",
                "gene_name": "CDGSH iron sulfur domain 2",
                "omim_gene": [
                    "611507"
                ],
                "alias_name": [
                    "mitoNEET related 1",
                    "endoplasmic reticulum intermembrane small protein",
                    "nutrient-deprivation autophagy factor-1"
                ],
                "gene_symbol": "CISD2",
                "hgnc_symbol": "CISD2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:103790135-103810399",
                            "ensembl_id": "ENSG00000145354"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:102868978-102889242",
                            "ensembl_id": "ENSG00000145354"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-08-10"
            },
            "penetrance": null,
            "phenotypes": [
                "Wolfram syndrome 2604928"
            ],
            "transcript": null,
            "entity_name": "CISD2",
            "entity_type": "gene",
            "publications": [
                "17846994",
                "25056293"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "NHS GMS"
            ],
            "gene_data": {
                "alias": [
                    "FLJ13096"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25784",
                "gene_name": "DDB1 and CUL4 associated factor 17",
                "omim_gene": [
                    "612515"
                ],
                "alias_name": [
                    "Woodhouse-Sakati syndrome"
                ],
                "gene_symbol": "DCAF17",
                "hgnc_symbol": "DCAF17",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:172290727-172341562",
                            "ensembl_id": "ENSG00000115827"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:171434217-171485052",
                            "ensembl_id": "ENSG00000115827"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2009-07-17"
            },
            "penetrance": null,
            "phenotypes": [
                "Woodhouse-Sakati syndrome, 241080",
                "Woodhouse-Sakati syndrome (hypogonadism, partial alopecia, diabetes mellitus, mental retardation, and deafness)"
            ],
            "transcript": null,
            "entity_name": "DCAF17",
            "entity_type": "gene",
            "publications": [
                "20507343",
                "19026396",
                "24464444"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "NHS GMS"
            ],
            "gene_data": {
                "alias": [
                    "P58",
                    "P58IPK",
                    "HP58",
                    "ERdj6"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9439",
                "gene_name": "DnaJ heat shock protein family (Hsp40) member C3",
                "omim_gene": [
                    "601184"
                ],
                "alias_name": [
                    "interferon-induced, double-stranded RNA-activated protein kinase inhibitor",
                    "protein kinase inhibitor of 58 kDa",
                    "endoplasmic reticulum DNA J domain-containing protein 6"
                ],
                "gene_symbol": "DNAJC3",
                "hgnc_symbol": "DNAJC3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "13:96329393-96447243",
                            "ensembl_id": "ENSG00000102580"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "13:95677139-95794989",
                            "ensembl_id": "ENSG00000102580"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-09-20"
            },
            "penetrance": null,
            "phenotypes": [
                "?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192",
                "Autosomal recessive juvenile-onset diabetes with central and peripheral neurodegeneration"
            ],
            "transcript": null,
            "entity_name": "DNAJC3",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "NHS GMS"
            ],
            "gene_data": {
                "alias": [
                    "MIRK"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3092",
                "gene_name": "dual specificity tyrosine phosphorylation regulated kinase 1B",
                "omim_gene": [
                    "604556"
                ],
                "alias_name": [
                    "minibrain-related kinase"
                ],
                "gene_symbol": "DYRK1B",
                "hgnc_symbol": "DYRK1B",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:40315990-40324841",
                            "ensembl_id": "ENSG00000105204"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:39825350-39834201",
                            "ensembl_id": "ENSG00000105204"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-01-29"
            },
            "penetrance": null,
            "phenotypes": [
                "Abdominal obesity-metabolic syndrome 3, 615812",
                "Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes)"
            ],
            "transcript": null,
            "entity_name": "DYRK1B",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4173",
                "gene_name": "GATA binding protein 4",
                "omim_gene": [
                    "600576"
                ],
                "alias_name": null,
                "gene_symbol": "GATA4",
                "hgnc_symbol": "GATA4",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:11534468-11617511",
                            "ensembl_id": "ENSG00000136574"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "8:11676959-11760002",
                            "ensembl_id": "ENSG00000136574"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-11-30"
            },
            "penetrance": null,
            "phenotypes": [
                "Neonatal diabetes",
                "Pancreatic agenesis and/or congenital heart defects",
                "Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes)"
            ],
            "transcript": null,
            "entity_name": "GATA4",
            "entity_type": "gene",
            "publications": [
                "24696446"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4174",
                "gene_name": "GATA binding protein 6",
                "omim_gene": [
                    "601656"
                ],
                "alias_name": null,
                "gene_symbol": "GATA6",
                "hgnc_symbol": "GATA6",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "18:19749404-19782491",
                            "ensembl_id": "ENSG00000141448"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "18:22169443-22202528",
                            "ensembl_id": "ENSG00000141448"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1996-10-11"
            },
            "penetrance": null,
            "phenotypes": [
                "Pancreatic agenesis and congenital heart defects",
                "PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS",
                "Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes)"
            ],
            "transcript": null,
            "entity_name": "GATA6",
            "entity_type": "gene",
            "publications": [
                "22806356",
                "25706805",
                "23635550",
                "24433315",
                "24310933",
                "23639568",
                "22158542",
                "26210631",
                "22962692",
                "27098067",
                "25708516",
                "23223019",
                "25356219"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "HK4"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4195",
                "gene_name": "glucokinase",
                "omim_gene": [
                    "138079"
                ],
                "alias_name": [
                    "hexokinase 4"
                ],
                "gene_symbol": "GCK",
                "hgnc_symbol": "GCK",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:44183872-44237769",
                            "ensembl_id": "ENSG00000106633"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:44144271-44198170",
                            "ensembl_id": "ENSG00000106633"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-06-05"
            },
            "penetrance": null,
            "phenotypes": [
                "Transient Neonatal Diabetes, Recessive",
                "MODY2",
                "Diabetes mellitus, permanent neonatal, 606176",
                "Maturity-Onset Diabetes Of The Young",
                "Hyperinsulinemic hypoglycemia, familial, 3, 602485",
                "Diabetes mellitus, noninsulin-dependent, late onset, 125853",
                "Permanent neonatal diabetes",
                "MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2",
                "Permanent Neonatal Diabetes Mellitus (recessive)",
                "Maturity-onset diabetes of the young (MODY)",
                "Permanent Neonatal Diabetes Mellitus",
                "Maturity Onset Diabetes of the Young (Dominant)",
                "Diabetes mellitus, gestational, 125851",
                "MODY, type II, 125851",
                "Maturity Onset Diabetes of the Young",
                "Neonatal diabetes",
                "Fasting hyperglycaemia"
            ],
            "transcript": null,
            "entity_name": "GCK",
            "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": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "HNF1",
                    "LFB1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11621",
                "gene_name": "HNF1 homeobox A",
                "omim_gene": [
                    "142410"
                ],
                "alias_name": null,
                "gene_symbol": "HNF1A",
                "hgnc_symbol": "HNF1A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:121416346-121440315",
                            "ensembl_id": "ENSG00000135100"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:120978543-121002512",
                            "ensembl_id": "ENSG00000135100"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-08-24"
            },
            "penetrance": null,
            "phenotypes": [
                "Hepatic adenoma, somatic, 142330",
                "Maturity-Onset Diabetes Of The Young",
                "{Diabetes mellitus, insulin-dependent}, 222100",
                "Renal cell carcinoma, 144700",
                "MODY, type III, 600496{Diabetes mellitus, noninsulin-dependent, 2}, 125853{Diabetes mellitus, insulin-dependent}, 222100Hepatic adenoma, somatic, 142330Renal cell carcinoma, 144700Diabetes mellitus, insulin-dependent, 20, 612520",
                "Diabetes mellitus, insulin-dependent, 20, 612520",
                "MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3",
                "MODY3",
                "Maturity-onset diabetes of the young (MODY)",
                "{Diabetes mellitus, noninsulin-dependent, 2}, 125853",
                "MODY, type III, 600496",
                "Maturity Onset Diabetes of the Young"
            ],
            "transcript": null,
            "entity_name": "HNF1A",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "LFB3",
                    "VHNF1",
                    "HNF1beta",
                    "MODY5"
                ],
                "biotype": null,
                "hgnc_id": "HGNC:11630",
                "gene_name": "HNF1 homeobox B",
                "omim_gene": [
                    "189907"
                ],
                "alias_name": null,
                "gene_symbol": "HNF1B",
                "hgnc_symbol": "HNF1B",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:36046435-36105237",
                            "ensembl_id": "ENSG00000108753"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:37686432-37745247",
                            "ensembl_id": "ENSG00000275410"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-08-24"
            },
            "penetrance": null,
            "phenotypes": [
                "Transient neonatal diabetes",
                "Renal Cysts and Diabetes Syndrome",
                "Diabetes mellitus, noninsulin-dependent, 125853",
                "Maturity-Onset Diabetes Of The Young",
                "RCAD",
                "renal malformation",
                "{Renal cell carcinoma}, 144700",
                "Renal cysts and diabetes syndrome, 137920",
                "RENAL CYSTS AND DIABETES SYNDROME"
            ],
            "transcript": null,
            "entity_name": "HNF1B",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "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": "2017-11-03",
                "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": null,
            "phenotypes": [
                "{Diabetes mellitus, noninsulin-dependent}, 125853",
                "Maturity-Onset Diabetes Of The Young, Type 1",
                "MODY1, 125850",
                "Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young  616026"
            ],
            "transcript": null,
            "entity_name": "HNF4A",
            "entity_type": "gene",
            "publications": [
                "28242437"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6081",
                "gene_name": "insulin",
                "omim_gene": [
                    "176730"
                ],
                "alias_name": null,
                "gene_symbol": "INS",
                "hgnc_symbol": "INS",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:2181009-2182571",
                            "ensembl_id": "ENSG00000254647"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:2159779-2161341",
                            "ensembl_id": "ENSG00000254647"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": null,
            "phenotypes": [
                "MODY10",
                "Maturity-onset diabetes of the young, type 10, 613370",
                "Transient Neonatal Diabetes, Dominant/Recessive",
                "Diabetes mellitus, permanent neonatal, 606176",
                "Diabetes mellitus, insulin-dependent, 2, 125852",
                "MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10",
                "Maturity Onset Diabetes of the Young",
                "Permanent Neonatal diabetes mellitus",
                "Hyperproinsulinemia, familial, with or without diabetes",
                "Maturity Onset Diabetes of the Young (Dominant)",
                "Diabetes mellitus, type 1, 125852"
            ],
            "transcript": null,
            "entity_name": "INS",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "CD220"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6091",
                "gene_name": "insulin receptor",
                "omim_gene": [
                    "147670"
                ],
                "alias_name": null,
                "gene_symbol": "INSR",
                "hgnc_symbol": "INSR",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:7112266-7294045",
                            "ensembl_id": "ENSG00000171105"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:7112255-7294034",
                            "ensembl_id": "ENSG00000171105"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "penetrance": null,
            "phenotypes": [
                "Leprechaunism, 246200",
                "Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549",
                "Rabson-Mendenhall syndrome, 262190",
                "Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans",
                "OMIM 610549",
                "Pineal Hyperplasia,Insulin- Resistant Diabetes Mellitus, and Somatic Abnormalities",
                "Diabetes Mellitus, Insulin-Resistant, With Acanthosis Nigricans",
                "Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities",
                "Diabetes mellitus, insulin-resistant, with acanthosis nigricans",
                "Hyperinsulinemic hypoglycemia, familial, 5, 609968",
                "DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS"
            ],
            "transcript": null,
            "entity_name": "INSR",
            "entity_type": "gene",
            "publications": [
                "8288049"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "Kir6.2",
                    "BIR"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6257",
                "gene_name": "potassium voltage-gated channel subfamily J member 11",
                "omim_gene": [
                    "600937"
                ],
                "alias_name": null,
                "gene_symbol": "KCNJ11",
                "hgnc_symbol": "KCNJ11",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:17407406-17410878",
                            "ensembl_id": "ENSG00000187486"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:17385859-17389331",
                            "ensembl_id": "ENSG00000187486"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-09-12"
            },
            "penetrance": null,
            "phenotypes": [
                "Transient Neonatal diabetes mellitus (Dominant)",
                "Transient Neonatal Diabetes, Dominant",
                "Diabetes mellitus, transient neonatal, 3, 610582",
                "Diabetes Mellitus, Permanent Neonatal diabetes mellitus (Dominant and recessive)",
                "Hyperinsulinemic hypoglycemia, familial, 2, 601820Diabetes, permanent neonatal, 606176Diabetes mellitus, permanent neonatal, with neurologic features, 606176{Diabetes mellitus, type 2, susceptibility to}, 125853Diabetes mellitus, transient neonatal, 3, 610582",
                "Diabetes, permanent neonatal, 606176",
                "Diabetes mellitus, permanent neonatal, with neurologic features, 606176",
                "Maturity Onset Diabetes of the Young",
                "{Diabetes mellitus, type 2, susceptibility to}, 125853",
                "Hyperinsulinemic hypoglycemia, familial, 2, 601820",
                "Transient Neonatal, 3",
                "Maturity Onset Diabetes of the Young (Dominant)",
                "Diabetes Mellitus, Permanent Neonatal",
                "Diabetes mellitus, trans",
                "Diabetes Mellitus, Transient Neonatal, 3"
            ],
            "transcript": null,
            "entity_name": "KCNJ11",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments"
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "HGPS",
                    "MADA"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6636",
                "gene_name": "lamin A/C",
                "omim_gene": [
                    "150330"
                ],
                "alias_name": [
                    "mandibuloacral dysplasia type A"
                ],
                "gene_symbol": "LMNA",
                "hgnc_symbol": "LMNA",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:156052364-156109880",
                            "ensembl_id": "ENSG00000160789"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:156082573-156140089",
                            "ensembl_id": "ENSG00000160789"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-04-09"
            },
            "penetrance": null,
            "phenotypes": [
                "FPLD2",
                "LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2",
                "Lipodystrophy, familial partial, 2, 151660",
                "Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules",
                "Severe insulin resistance, partial lipodystrophy and diabetes"
            ],
            "transcript": null,
            "entity_name": "LMNA",
            "entity_type": "gene",
            "publications": [
                "26775134",
                "24002959"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "TRNL1"
                ],
                "biotype": "Mt_tRNA",
                "hgnc_id": "HGNC:7490",
                "gene_name": "mitochondrially encoded tRNA leucine 1 (UUA/G)",
                "omim_gene": [
                    "590050"
                ],
                "alias_name": null,
                "gene_symbol": "MT-TL1",
                "hgnc_symbol": "MT-TL1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "MT:3230-3304",
                            "ensembl_id": "ENSG00000209082"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "MT:3230-3304",
                            "ensembl_id": "ENSG00000209082"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-02-16"
            },
            "penetrance": null,
            "phenotypes": [
                "MIDD",
                "DIABETES AND DEAFNESS, MATERNALLY INHERITED",
                "Diabetes-Deafness Syndrome, Maternally Transmitted",
                "MELAS syndrome",
                "Maternally inherited diabetes"
            ],
            "transcript": null,
            "entity_name": "MT-TL1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MITOCHONDRIAL",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "BETA2",
                    "BHF-1",
                    "NeuroD",
                    "bHLHa3",
                    "MODY6"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7762",
                "gene_name": "neuronal differentiation 1",
                "omim_gene": [
                    "601724"
                ],
                "alias_name": [
                    "beta-cell E-box transactivator 2",
                    "neurogenic helix-loop-helix protein NEUROD"
                ],
                "gene_symbol": "NEUROD1",
                "hgnc_symbol": "NEUROD1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:182537815-182545603",
                            "ensembl_id": "ENSG00000162992"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:181673088-181680876",
                            "ensembl_id": "ENSG00000162992"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1996-03-12"
            },
            "penetrance": null,
            "phenotypes": [
                "Maturity-onset diabetes of the young 6, 606394",
                "MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6",
                "{Diabetes mellitus, noninsulin-dependent}, 125853",
                "Maturity-Onset Diabetes Of The Young",
                "MODY6",
                "Permanent neonatal diabetes and cerebellar agenesis",
                "Maturity Onset Diabetes of the Young"
            ],
            "transcript": null,
            "entity_name": "NEUROD1",
            "entity_type": "gene",
            "publications": [
                "26773576",
                "10545951",
                "26669242",
                "20573748"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "NHS GMS"
            ],
            "gene_data": {
                "alias": [
                    "D11S812E",
                    "AN",
                    "WAGR"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8620",
                "gene_name": "paired box 6",
                "omim_gene": [
                    "607108"
                ],
                "alias_name": [
                    "aniridia, keratitis"
                ],
                "gene_symbol": "PAX6",
                "hgnc_symbol": "PAX6",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:31806340-31839509",
                            "ensembl_id": "ENSG00000007372"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:31784779-31818062",
                            "ensembl_id": "ENSG00000007372"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "penetrance": null,
            "phenotypes": [
                "Aniridia 106210",
                "diabetes"
            ],
            "transcript": null,
            "entity_name": "PAX6",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "NHS GMS"
            ],
            "gene_data": {
                "alias": [
                    "PCD"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8646",
                "gene_name": "pterin-4 alpha-carbinolamine dehydratase 1",
                "omim_gene": [
                    "126090"
                ],
                "alias_name": [
                    "Pterin-4a-carbinolamine dehydratase (dimerization cofactor of hepatic nuclear factor 1-alpha)",
                    "pterin-4-alpha carbinolamine dehydratase",
                    "dimerizing cofactor for HNF1"
                ],
                "gene_symbol": "PCBD1",
                "hgnc_symbol": "PCBD1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:72642037-72648541",
                            "ensembl_id": "ENSG00000166228"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:70882280-70888784",
                            "ensembl_id": "ENSG00000166228"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-02-11"
            },
            "penetrance": null,
            "phenotypes": [
                "Hyperphenylalaninemia, BH4-deficient, D, 264070",
                "Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty)"
            ],
            "transcript": null,
            "entity_name": "PCBD1",
            "entity_type": "gene",
            "publications": [
                "24204001",
                "24848070"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "IDX-1",
                    "STF-1",
                    "PDX-1",
                    "MODY4"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6107",
                "gene_name": "pancreatic and duodenal homeobox 1",
                "omim_gene": [
                    "600733"
                ],
                "alias_name": [
                    "somatostatin transcription factor 1"
                ],
                "gene_symbol": "PDX1",
                "hgnc_symbol": "PDX1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "13:28494157-28500368",
                            "ensembl_id": "ENSG00000139515"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "13:27920020-27926231",
                            "ensembl_id": "ENSG00000139515"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-12-01"
            },
            "penetrance": null,
            "phenotypes": [
                "Pancreatic agenesis 1",
                "MODY4",
                "Maturity-Onset Diabetes Of The Young",
                "MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4",
                "Permanent neonatal diabetes",
                "Maturity-onset diabetes of the young (MODY)",
                "MODY type IV",
                "Recessive neonatal diabetes, pancreatic agenesis and dominant MODY, 606392"
            ],
            "transcript": null,
            "entity_name": "PDX1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "GRB1",
                    "p85-ALPHA",
                    "p85"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8979",
                "gene_name": "phosphoinositide-3-kinase regulatory subunit 1",
                "omim_gene": [
                    "171833"
                ],
                "alias_name": [
                    "phosphoinositide-3-kinase regulatory subunit alpha"
                ],
                "gene_symbol": "PIK3R1",
                "hgnc_symbol": "PIK3R1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:67511548-67597649",
                            "ensembl_id": "ENSG00000145675"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:68215720-68301821",
                            "ensembl_id": "ENSG00000145675"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-12-08"
            },
            "penetrance": null,
            "phenotypes": [
                "Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome, 269880",
                "SHORT syndrome"
            ],
            "transcript": null,
            "entity_name": "PIK3R1",
            "entity_type": "gene",
            "publications": [
                "23810378"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": "Other - please provide details in the comments"
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "NHS GMS"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9076",
                "gene_name": "perilipin 1",
                "omim_gene": [
                    "170290"
                ],
                "alias_name": null,
                "gene_symbol": "PLIN1",
                "hgnc_symbol": "PLIN1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:90207596-90222658",
                            "ensembl_id": "ENSG00000166819"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:89664365-89679427",
                            "ensembl_id": "ENSG00000166819"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2009-08-12"
            },
            "penetrance": null,
            "phenotypes": [
                "partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes",
                "Lipodystrophy, familial partial, type 4, 613877",
                "Severe insulin resistance, partial lipodystrophy and diabetes"
            ],
            "transcript": null,
            "entity_name": "PLIN1",
            "entity_type": "gene",
            "publications": [
                "21345103",
                "30020498",
                "11371650",
                "25695774"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "CDC2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9175",
                "gene_name": "DNA polymerase delta 1, catalytic subunit",
                "omim_gene": [
                    "174761"
                ],
                "alias_name": [
                    "CDC2 homolog (S. cerevisiae)"
                ],
                "gene_symbol": "POLD1",
                "hgnc_symbol": "POLD1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:50887461-50921273",
                            "ensembl_id": "ENSG00000062822"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:50384204-50418018",
                            "ensembl_id": "ENSG00000062822"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-02-06"
            },
            "penetrance": null,
            "phenotypes": [
                "Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381",
                "multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males",
                "Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome",
                "multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males",
                "Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381"
            ],
            "transcript": null,
            "entity_name": "POLD1",
            "entity_type": "gene",
            "publications": [
                "23770608"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments"
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "PPARG1",
                    "PPARG2",
                    "NR1C3",
                    "PPARgamma"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9236",
                "gene_name": "peroxisome proliferator activated receptor gamma",
                "omim_gene": [
                    "601487"
                ],
                "alias_name": null,
                "gene_symbol": "PPARG",
                "hgnc_symbol": "PPARG",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:12328867-12475855",
                            "ensembl_id": "ENSG00000132170"
                        }
                    },
                    "GRch38": {
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                    }
                },
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            },
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            "phenotypes": [
                "Lipodystrophy, familial partial, type 3, 604367",
                "FPLD3",
                "{Diabetes, type 2}, 125853",
                "[Obesity, resistance to]",
                "Obesity, severe, 601665",
                "Lipodystrophy, familial partial, type 3",
                "Insulin resistance, severe, digenic",
                "Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension",
                "Insulin resistance, severe, digenic 604367",
                "Insulin resistance, severe, digenic, 604367",
                "LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3",
                "Lipodystrophy, familial partial, type 3 604367",
                "Carotid intimal medial thickness 1, 609338"
            ],
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            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
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                "Expert Review Green",
                "NHS GMS"
            ],
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                "alias": [
                    "FLJ14744"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14951",
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                "omim_gene": [
                    "613257"
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                            "ensembl_id": "ENSG00000158615"
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                            "ensembl_id": "ENSG00000158615"
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                    }
                },
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            },
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                "Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability,616817"
            ],
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            "entity_name": "PPP1R15B",
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            "mode_of_pathogenicity": ""
        },
        {
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                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
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                    "MGC33442",
                    "dJ955L16.1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21478",
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                "omim_gene": [
                    "612659"
                ],
                "alias_name": [
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                ],
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                "hgnc_symbol": "RFX6",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "6:117198375-117253326",
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                "Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities",
                "Mitchell-Riley syndrome, 615710",
                "recessive syndromic diabetes and autosomal dominant MODY"
            ],
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            "entity_name": "RFX6",
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                "26761945",
                "27185633",
                "26559129",
                "26264437",
                "27167055"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
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                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "ENT3",
                    "FLJ11160"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:23096",
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                "omim_gene": [
                    "612373"
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                            "location": "10:73079015-73123142",
                            "ensembl_id": "ENSG00000198246"
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                    },
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                    }
                },
                "hgnc_date_symbol_changed": "2003-10-08"
            },
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            "phenotypes": [
                "Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome",
                "H syndrome (hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and hyperglycaemia) and PHID syndrome (pigmented hypertrichosis with insulin dependent diabetes)",
                "Histiocytosis-lymphadenopathy plus syndrome,602782"
            ],
            "transcript": null,
            "entity_name": "SLC29A3",
            "entity_type": "gene",
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                "19336477"
            ],
            "confidence_level": "3",
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            "mode_of_pathogenicity": ""
        },
        {
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                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "MGC27034",
                    "TRM10"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:28403",
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                "omim_gene": [
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                    },
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                    }
                },
                "hgnc_date_symbol_changed": "2012-06-28"
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            "phenotypes": [
                "failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies",
                "young onset diabetes, short stature and microcephaly with intellectual disability",
                "Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability",
                "Microcephaly, short stature, and impaired glucose metabolism 1, 616033"
            ],
            "transcript": null,
            "entity_name": "TRMT10A",
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                "26297882",
                "24204302"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
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                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "DIDMOAD",
                    "WFS"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12762",
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                "omim_gene": [
                    "606201"
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                "alias_name": null,
                "gene_symbol": "WFS1",
                "hgnc_symbol": "WFS1",
                "hgnc_release": "2017-11-03",
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                            "location": "4:6271576-6304992",
                            "ensembl_id": "ENSG00000109501"
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                    },
                    "GRch38": {
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                            "location": "4:6269849-6303265",
                            "ensembl_id": "ENSG00000109501"
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                    }
                },
                "hgnc_date_symbol_changed": "1995-01-30"
            },
            "penetrance": null,
            "phenotypes": [
                "diabetes insipidus or optic atrophy",
                "Wolfram-like syndrome, autosomal dominant, 614296",
                "Deafness, autosomal dominant 6/14/38, 600965",
                "{Diabetes mellitus, noninsulin-dependent,association with}",
                "Deafness,autosomal dominant 6/14/38, 600965",
                "Wolfram syndrome, 222300",
                "{Diabetes mellitus, noninsulin-dependent, association with}, 125853",
                "?Cataract 41,116400"
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            "transcript": null,
            "entity_name": "WFS1",
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                "27217304",
                "27185633"
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        {
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                "Expert Review Green",
                "NHS GMS"
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                    },
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                            "ensembl_id": "ENSG00000181722"
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                "Primrose syndrome, 259050",
                "Primrose syndrome (tall stature, macrocephaly, intellectual disability, disturbed behaviour, unusual facial features, diabetes, deafness, progressive muscle wasting and ectopic calcifications)"
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            "entity_name": "ZBTB20",
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                "25017102",
                "20644156"
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        {
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                "Expert Review Green"
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                    "bA145L22",
                    "bA145L22.2"
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                "hgnc_symbol": "ZFP57",
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                "Transient Neonatal Diabetes"
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            "transcript": null,
            "entity_name": "ZFP57",
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        {
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                    "STE24",
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        {
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            "phenotypes": [
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        {
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            "mode_of_pathogenicity": ""
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        {
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                "Expert Review Removed"
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        {
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            "phenotypes": [
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            "confidence_level": "0",
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            "phenotypes": [
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                "Maturity Onset Diabetes of the Young"
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            "mode_of_pathogenicity": ""
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            },
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            ],
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        },
        {
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                "Expert Review Removed"
            ],
            "gene_data": {
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                "hgnc_symbol": "BSCL2",
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                            "location": "11:62457747-62477317",
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                    },
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            },
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                "Lipodystrophy, congenital generalized, type 2, 269700"
            ],
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                "11479539"
            ],
            "confidence_level": "0",
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        },
        {
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                "Expert Review Removed"
            ],
            "gene_data": {
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                    "CGL4"
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                "hgnc_symbol": "CAVIN1",
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                "ensembl_genes": {
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                    },
                    "GRch38": {
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                    }
                },
                "hgnc_date_symbol_changed": "2017-03-24"
            },
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            "phenotypes": [
                "Lipodystrophy, congenital generalized, type 4, 613327"
            ],
            "transcript": null,
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                "19726876"
            ],
            "confidence_level": "0",
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        },
        {
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                "Expert Review Removed"
            ],
            "gene_data": {
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                    "KIAA0856",
                    "DFNA71"
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                "ensembl_genes": {
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                            "location": "15:51739908-51915030",
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                    },
                    "GRch38": {
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            },
            "penetrance": null,
            "phenotypes": [
                "ORPHA90636",
                "OMIM:612186",
                "Sensorineural Hearing Loss"
            ],
            "transcript": null,
            "entity_name": "DMXL2",
            "entity_type": "gene",
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                "22875945",
                "27657680",
                "25248098"
            ],
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            "mode_of_pathogenicity": ""
        },
        {
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                "Expert Review Removed"
            ],
            "gene_data": {
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                    "PERK"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3255",
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                "ensembl_genes": {
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                    },
                    "GRch38": {
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                    }
                },
                "hgnc_date_symbol_changed": "1999-06-14"
            },
            "penetrance": null,
            "phenotypes": [
                "Wolcott-Rallison syndrome",
                "Multiple Epiphyseal Dysplasia with Early-Onset Diabetes Mellitus"
            ],
            "transcript": null,
            "entity_name": "EIF2AK3",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "0",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
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                "Expert Review Removed"
            ],
            "gene_data": {
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                    "PCA1"
                ],
                "biotype": "protein_coding",
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                "hgnc_symbol": "ENPP1",
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                "ensembl_genes": {
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                    },
                    "GRch38": {
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                    }
                },
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            },
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            "phenotypes": [
                "Ossification of posterior longitudinal ligament of spine, 602475{Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853{Obesity, susceptibility to}, 601665Arterial calcification, generalized, of infancy, 1, 208000Hypophos"
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            "transcript": null,
            "entity_name": "ENPP1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "0",
            "mode_of_inheritance": "Unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
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                "Expert Review Removed"
            ],
            "gene_data": {
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                    "JTK4",
                    "CD333"
                ],
                "biotype": "protein_coding",
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                "hgnc_symbol": "FGFR3",
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                "ensembl_genes": {
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                    },
                    "GRch38": {
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                    }
                },
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            },
            "penetrance": null,
            "phenotypes": [
                "Hypochondroplasia, 146000",
                "Crouzon syndrome with acanthosis nigricans, 612247"
            ],
            "transcript": null,
            "entity_name": "FGFR3",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "0",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Removed"
            ],
            "gene_data": {
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                ],
                "biotype": "protein_coding",
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                "omim_gene": [
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                "hgnc_symbol": "FOXC2",
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                    },
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            },
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            "phenotypes": [
                "Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400",
                "Lymphedema-distichiasis syndrome, 153400"
            ],
            "transcript": null,
            "entity_name": "FOXC2",
            "entity_type": "gene",
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            "confidence_level": "0",
            "mode_of_inheritance": "Unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Removed"
            ],
            "gene_data": {
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                    "XPID",
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                    "PIDX",
                    "DIETER",
                    "SCURFIN"
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                "hgnc_symbol": "FOXP3",
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                    },
                    "GRch38": {
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            "entity_name": "FOXP3",
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        },
        {
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                "Expert Review Removed"
            ],
            "gene_data": {
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                ],
                "biotype": "protein_coding",
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                "Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism",
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            "entity_name": "GLIS3",
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            "mode_of_pathogenicity": ""
        },
        {
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                "Expert Review Removed"
            ],
            "gene_data": {
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                    "HEPC",
                    "HFE2B",
                    "LEAP1"
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                "hgnc_symbol": "HAMP",
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                    },
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                "Hemochromatosis, type 2B 613313"
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            "transcript": null,
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            "entity_type": "gene",
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        },
        {
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                "Expert Review Removed"
            ],
            "gene_data": {
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                "biotype": "protein_coding",
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        {
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            "evidence": [
                "Expert Review Removed"
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                "hgnc_symbol": "HFE2",
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        },
        {
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                "Expert Review Removed"
            ],
            "gene_data": {
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            "phenotypes": [
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        {
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            "evidence": [
                "Expert Review Removed"
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            "gene_data": {
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                "biotype": "protein_coding",
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                "hgnc_symbol": "IL2RA",
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                            "location": "10:6052652-6104288",
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                    },
                    "GRch38": {
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            "penetrance": null,
            "phenotypes": [],
            "transcript": null,
            "entity_name": "IL2RA",
            "entity_type": "gene",
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                "17196245"
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            "confidence_level": "0",
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        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Removed"
            ],
            "gene_data": {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11811",
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                "gene_symbol": "KLF11",
                "hgnc_symbol": "KLF11",
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                "ensembl_genes": {
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                    },
                    "GRch38": {
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                "hgnc_date_symbol_changed": "2004-12-01"
            },
            "penetrance": null,
            "phenotypes": [
                "Maturity-onset diabetes of the young, type VII, 610508",
                "Maturity Onset Diabetes of the Young"
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            "transcript": null,
            "entity_name": "KLF11",
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            "publications": [],
            "confidence_level": "0",
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            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Removed"
            ],
            "gene_data": {
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        },
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            ],
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                    }
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            },
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            ],
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        },
        {
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                "Expert Review Removed"
            ],
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                    "HOXHB9",
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                    }
                },
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            },
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            ],
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        },
        {
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            ],
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                    }
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            },
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            ],
            "transcript": null,
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        },
        {
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            ],
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                ],
                "biotype": "protein_coding",
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                    }
                },
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            },
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                "24411943"
            ],
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        },
        {
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            ],
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                "hgnc_symbol": "NSMCE2",
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            },
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            ],
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            },
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