GET /api/v1/panels/308/?version=2.0
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{
    "id": 308,
    "hash_id": "553f9781bb5a1616e5ed45f4",
    "name": "Congenital hyperinsulinism",
    "disease_group": "Endocrine disorders",
    "disease_sub_group": "Disorders of unusual phenotypes",
    "status": "public",
    "version": "2.0",
    "version_created": "2019-07-31T13:49:21.556866Z",
    "relevant_disorders": [
        "Hyperinsulinism",
        "R144"
    ],
    "stats": {
        "number_of_genes": 19,
        "number_of_strs": 0,
        "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 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."
        }
    ],
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        {
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                "alias": [
                    "HI",
                    "PHHI",
                    "SUR1",
                    "MRP8",
                    "ABC36",
                    "HHF1",
                    "TNDM2"
                ],
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                "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": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "ensembl_id": "ENSG00000006071"
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                    },
                    "GRch38": {
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                            "ensembl_id": "ENSG00000006071"
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                },
                "hgnc_date_symbol_changed": "1995-01-10"
            },
            "entity_type": "gene",
            "entity_name": "ABCC8",
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            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
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                "UKGTN"
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            "tags": []
        },
        {
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                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:392",
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                    "164731"
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                "hgnc_symbol": "AKT2",
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                },
                "hgnc_date_symbol_changed": "1992-11-05"
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            "entity_type": "gene",
            "entity_name": "AKT2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
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                "21979934",
                "24285683"
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            "evidence": [
                "Expert Review Green",
                "NHS GMS"
            ],
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                "hypoinsulinemic hypoketotic hypoglycemia, 240900",
                "Autosomal dominant fasting hypoglycaemia and asymmetrical overgrowth"
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            "tags": []
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:5022",
                "gene_name": "forkhead box A2",
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                "alias_name": null,
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                "hgnc_symbol": "FOXA2",
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                },
                "hgnc_date_symbol_changed": "2002-09-20"
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            "entity_type": "gene",
            "entity_name": "FOXA2",
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            "penetrance": null,
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            "publications": [
                "29329447",
                "28973288"
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            "evidence": [
                "Expert Review Green",
                "NHS GMS"
            ],
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                "Hyperinsulinism",
                "hypopituitarism",
                "Dominant Hyperinsulinism, Hypopituitarism with Craniofacial and Endoderm-derived organ abnormalities"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": []
        },
        {
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                "alias": [
                    "HK4"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4195",
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                "alias_name": [
                    "hexokinase 4"
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                "gene_symbol": "GCK",
                "hgnc_symbol": "GCK",
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                    }
                },
                "hgnc_date_symbol_changed": "1991-06-05"
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            "entity_type": "gene",
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            "penetrance": "Complete",
            "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
            "publications": [],
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                "NHS GMS",
                "Expert Review Green",
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                "Illumina TruGenome Clinical Sequencing Services"
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            "phenotypes": [
                "Hyperinsulinism, Dominant",
                "MODY, type II, 125851"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": []
        },
        {
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                "hgnc_id": "HGNC:4335",
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                "omim_gene": [
                    "138130"
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                            "location": "10:88810243-88854623",
                            "ensembl_id": "ENSG00000148672"
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                    "GRch38": {
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                            "location": "10:87050486-87094866",
                            "ensembl_id": "ENSG00000148672"
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                },
                "hgnc_date_symbol_changed": "1986-01-01"
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            "entity_type": "gene",
            "entity_name": "GLUD1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
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            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services",
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            ],
            "phenotypes": [
                "Hyperinsulinism-hyperammonemia syndrome, 606762",
                "Hyperinsulinism, Dominant"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
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                    "SGBS",
                    "SGBS1",
                    "SGB",
                    "DGSX"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4451",
                "gene_name": "glypican 3",
                "omim_gene": [
                    "300037"
                ],
                "alias_name": [
                    "glypican proteoglycan 3"
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                "gene_symbol": "GPC3",
                "hgnc_symbol": "GPC3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:132669773-133119922",
                            "ensembl_id": "ENSG00000147257"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "X:133535745-133985895",
                            "ensembl_id": "ENSG00000147257"
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                },
                "hgnc_date_symbol_changed": "1996-08-08"
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            "entity_type": "gene",
            "entity_name": "GPC3",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "20301398"
            ],
            "evidence": [
                "Expert Review Green",
                "NHS GMS"
            ],
            "phenotypes": [
                "neonatal hypoglycaemia",
                "distinctive craniofacies, congenital heart defects, genitourinary defects, GI anomalies, skeletal anomalies",
                "supernumerary nipples",
                "X-linked recessive hypoglycaemia as part of Simpson-Golabi-Behmel syndrome (312870)"
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            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "HADH1",
                    "SCHAD"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4799",
                "gene_name": "hydroxyacyl-CoA dehydrogenase",
                "omim_gene": [
                    "601609"
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                "ensembl_genes": {
                    "GRch37": {
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                    "GRch38": {
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                            "location": "4:107989714-108035175",
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                "hgnc_date_symbol_changed": "2001-06-22"
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            "entity_type": "gene",
            "entity_name": "HADH",
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            "penetrance": "Complete",
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                "NHS GMS",
                "Expert Review Green",
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            "phenotypes": [
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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        },
        {
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                "alias_name": null,
                "gene_symbol": "HNF1A",
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                "ensembl_genes": {
                    "GRch37": {
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                            "location": "12:121416346-121440315",
                            "ensembl_id": "ENSG00000135100"
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                    },
                    "GRch38": {
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                "hgnc_date_symbol_changed": "2007-08-24"
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            "entity_type": "gene",
            "entity_name": "HNF1A",
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            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "22802087"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Expert Review"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
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        {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:5024",
                "gene_name": "hepatocyte nuclear factor 4 alpha",
                "omim_gene": [
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                "ensembl_genes": {
                    "GRch37": {
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                            "location": "20:42984340-43061485",
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                },
                "hgnc_date_symbol_changed": "1998-04-20"
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            "entity_type": "gene",
            "entity_name": "HNF4A",
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            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "22802087"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Illumina TruGenome Clinical Sequencing Services"
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                "Hyperinsulinism, Dominant",
                "Autosomal dominant Hyperinsulinism",
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        },
        {
            "gene_data": {
                "alias": [
                    "CD220"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6091",
                "gene_name": "insulin receptor",
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                "alias_name": null,
                "gene_symbol": "INSR",
                "hgnc_symbol": "INSR",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:7112266-7294045",
                            "ensembl_id": "ENSG00000171105"
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                    "GRch38": {
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                "hgnc_date_symbol_changed": "1986-01-01"
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            "entity_type": "gene",
            "entity_name": "INSR",
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            "penetrance": "Complete",
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            "publications": [
                "15161766"
            ],
            "evidence": [
                "Expert Review Green",
                "NHS GMS",
                "Radboud University Medical Center, Nijmegen"
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            "phenotypes": [
                "Leprechaunism, 246200",
                "hyperinsulinemic hypoglycaemia",
                "Autosomal dominant postprandial hypoglycaemia"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
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        },
        {
            "gene_data": {
                "alias": [
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                    "BIR"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6257",
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                    "GRch37": {
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                    "GRch38": {
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                "NHS GMS",
                "Expert Review Green",
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        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12637",
                "gene_name": "lysine demethylase 6A",
                "omim_gene": [
                    "300128"
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                "alias_name": null,
                "gene_symbol": "KDM6A",
                "hgnc_symbol": "KDM6A",
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                "ensembl_genes": {
                    "GRch37": {
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                            "location": "X:44732757-44971847",
                            "ensembl_id": "ENSG00000147050"
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                    "GRch38": {
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                            "location": "X:44873177-45112602",
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                "hgnc_date_symbol_changed": "2009-04-17"
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            "entity_type": "gene",
            "entity_name": "KDM6A",
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            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "29907798"
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            "evidence": [
                "Expert Review Green",
                "NHS GMS"
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            "phenotypes": [
                "Kabuki syndrome 2, 300867",
                "X-linked dominant neonatal hypoglycaemia as part of Kabuki syndrome"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
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        {
            "gene_data": {
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                "biotype": "protein_coding",
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                "gene_name": "lysine methyltransferase 2D",
                "omim_gene": [
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                "alias_name": null,
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                    "GRch37": {
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                            "location": "12:49018975-49059774",
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                "hgnc_date_symbol_changed": "2013-05-09"
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            "entity_type": "gene",
            "entity_name": "KMT2D",
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            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "29907798"
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            "evidence": [
                "Expert Review Green",
                "NHS GMS"
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            "phenotypes": [
                "Kabuki syndrome 1, 147920",
                "Autosomal dominant neonatal hypoglycaemia as part of Kabuki syndrome"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": []
        },
        {
            "gene_data": {
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                    "PMI1"
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                "biotype": "protein_coding",
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                "gene_name": "phosphomannomutase 2",
                "omim_gene": [
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                "alias_name": [
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                "hgnc_symbol": "PMM2",
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                    },
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                            "location": "16:8788823-8849331",
                            "ensembl_id": "ENSG00000140650"
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            "publications": [
                "28373276"
            ],
            "evidence": [
                "Expert Review Green",
                "NHS GMS"
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            "phenotypes": [
                "Hyperinsulinemic Hypoglycaemia",
                "polycystic kidney disease"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
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                    "MCT1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10922",
                "gene_name": "solute carrier family 16 member 1",
                "omim_gene": [
                    "600682"
                ],
                "alias_name": null,
                "gene_symbol": "SLC16A1",
                "hgnc_symbol": "SLC16A1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:113454469-113499635",
                            "ensembl_id": "ENSG00000155380"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:112911847-112957013",
                            "ensembl_id": "ENSG00000155380"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-02-16"
            },
            "entity_type": "gene",
            "entity_name": "SLC16A1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "Other - please provide details in the comments",
            "publications": [
                "12502513"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "phenotypes": [
                "Hyperinsulinism, Dominant",
                "Erythrocyte lactate transporter defect, 245340",
                "Autosomal dominant exercise-induced hyperinsulinism"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "Cav1.3",
                    "CACH3",
                    "CACN4"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1391",
                "gene_name": "calcium voltage-gated channel subunit alpha1 D",
                "omim_gene": [
                    "114206"
                ],
                "alias_name": null,
                "gene_symbol": "CACNA1D",
                "hgnc_symbol": "CACNA1D",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:53528683-53847760",
                            "ensembl_id": "ENSG00000157388"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:53328963-53813733",
                            "ensembl_id": "ENSG00000157388"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-12-12"
            },
            "entity_type": "gene",
            "entity_name": "CACNA1D",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "28318089"
            ],
            "evidence": [
                "NHS GMS"
            ],
            "phenotypes": [
                "hyperinsulinaemic hypoglycaemia, heart defects",
                "severe hypotonia"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "RIPE3b1",
                    "hMafA"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:23145",
                "gene_name": "MAF bZIP transcription factor A",
                "omim_gene": [
                    "610303"
                ],
                "alias_name": null,
                "gene_symbol": "MAFA",
                "hgnc_symbol": "MAFA",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:144501352-144512576",
                            "ensembl_id": "ENSG00000182759"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "8:143419182-143430406",
                            "ensembl_id": "ENSG00000182759"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-01-30"
            },
            "entity_type": "gene",
            "entity_name": "MAFA",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "NHS GMS"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10485",
                "gene_name": "ryanodine receptor 3",
                "omim_gene": [
                    "180903"
                ],
                "alias_name": null,
                "gene_symbol": "RYR3",
                "hgnc_symbol": "RYR3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:33603163-34158303",
                            "ensembl_id": "ENSG00000198838"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:33310945-33866121",
                            "ensembl_id": "ENSG00000198838"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-05-12"
            },
            "entity_type": "gene",
            "entity_name": "RYR3",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "No OMIM phenotypeEpileptic encephalopathy (Appenzeller (2014) Am J Hum Genet 95, 360)Hyperinsulinism (Proverbio (2013) PLoS One 8, e68740)Schizophrenia (Fromer (2014) Nature 506, 179)Lennox-Gastaut syndrome (Appenzeller (2014) Am J Hum Genet 95, 360)"
            ],
            "mode_of_inheritance": "",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "MGC27034",
                    "TRM10"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:28403",
                "gene_name": "tRNA methyltransferase 10A",
                "omim_gene": [
                    "616013"
                ],
                "alias_name": null,
                "gene_symbol": "TRMT10A",
                "hgnc_symbol": "TRMT10A",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:100467866-100485189",
                            "ensembl_id": "ENSG00000145331"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:99546709-99564032",
                            "ensembl_id": "ENSG00000145331"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2012-06-28"
            },
            "entity_type": "gene",
            "entity_name": "TRMT10A",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "25053765"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Red",
                "Expert Review"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        }
    ],
    "strs": [],
    "regions": []
}