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            "entity_name": "SMARCA4",
            "entity_type": "gene",
            "publications": [
                "31190001"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Amber",
                "Expert list"
            ],
            "gene_data": {
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                    "BAF47",
                    "Ini1",
                    "Snr1",
                    "hSNFS",
                    "Sfh1p",
                    "RDT",
                    "PPP1R144"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11103",
                "gene_name": "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1",
                "omim_gene": [
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                ],
                "alias_name": [
                    "sucrose nonfermenting, yeast, homolog-like 1",
                    "integrase interactor 1",
                    "malignant rhabdoid tumor suppressor",
                    "protein phosphatase 1, regulatory subunit 144"
                ],
                "gene_symbol": "SMARCB1",
                "hgnc_symbol": "SMARCB1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "22:24129150-24176703",
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                    },
                    "GRch38": {
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                },
                "hgnc_date_symbol_changed": "1995-08-21"
            },
            "penetrance": null,
            "phenotypes": [
                "Rhabdoid tu, schwannomatosis"
            ],
            "transcript": null,
            "entity_name": "SMARCB1",
            "entity_type": "gene",
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            "confidence_level": "2",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Amber",
                "Expert Review Amber",
                "Expert list"
            ],
            "gene_data": {
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                    "RECQL2",
                    "RECQ3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12791",
                "gene_name": "Werner syndrome RecQ like helicase",
                "omim_gene": [
                    "604611"
                ],
                "alias_name": null,
                "gene_symbol": "WRN",
                "hgnc_symbol": "WRN",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "8:30891317-31031285",
                            "ensembl_id": "ENSG00000165392"
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                    },
                    "GRch38": {
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                            "ensembl_id": "ENSG00000165392"
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                    }
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                "hgnc_date_symbol_changed": "1991-08-21"
            },
            "penetrance": null,
            "phenotypes": [
                "Werner syndrome 277700"
            ],
            "transcript": null,
            "entity_name": "WRN",
            "entity_type": "gene",
            "publications": [
                "28338660"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Red",
                "Expert Review Red",
                "Literature"
            ],
            "gene_data": {
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                    "RTS",
                    "CBP",
                    "KAT3A"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2348",
                "gene_name": "CREB binding protein",
                "omim_gene": [
                    "600140"
                ],
                "alias_name": null,
                "gene_symbol": "CREBBP",
                "hgnc_symbol": "CREBBP",
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                "ensembl_genes": {
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                            "location": "16:3775055-3930727",
                            "ensembl_id": "ENSG00000005339"
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                            "location": "16:3725054-3880726",
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                "hgnc_date_symbol_changed": "1995-01-10"
            },
            "penetrance": null,
            "phenotypes": [
                "Rubinstein-Taybi syndrome 1, 180849"
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            "transcript": null,
            "entity_name": "CREBBP",
            "entity_type": "gene",
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            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
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            "evidence": [
                "NHS GMS",
                "Expert Review Red",
                "Expert Review Red",
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                    "KIAA0928",
                    "K12H4.8-LIKE",
                    "HERNA"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17098",
                "gene_name": "dicer 1, ribonuclease III",
                "omim_gene": [
                    "606241"
                ],
                "alias_name": [
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                "gene_symbol": "DICER1",
                "hgnc_symbol": "DICER1",
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                "ensembl_genes": {
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                            "location": "14:95086228-95158010",
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                },
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            "phenotypes": [
                "Pleuropulmonary blastoma, 601200",
                "Rhabdomyosarcoma, embryonal, 2, 180295"
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            "entity_type": "gene",
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                "30989777"
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            "confidence_level": "1",
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            "mode_of_pathogenicity": ""
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        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Red",
                "Expert Review Red",
                "Radboud University Medical Center, Nijmegen"
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            "gene_data": {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3819",
                "gene_name": "forkhead box O1",
                "omim_gene": [
                    "136533"
                ],
                "alias_name": null,
                "gene_symbol": "FOXO1",
                "hgnc_symbol": "FOXO1",
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            "phenotypes": [
                "Rhabdomyosarcoma, alveolar, 268220"
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            "entity_type": "gene",
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                "25768946"
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            "confidence_level": "1",
            "mode_of_inheritance": "Other - please specifiy in evaluation comments",
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        {
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                "NHS GMS",
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                "Nevus, Epidermal 162900"
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                "biotype": "protein_coding",
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                "25768946"
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                "Rhabdomyosarcoma 2, alveolar, 268220"
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            "entity_type": "gene",
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                "25768946"
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                "Expert Review Red",
                "NHS GMS",
                "Expert Review Green",
                "Expert list"
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                    "PDGFR2",
                    "GAS9"
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            "phenotypes": [
                "Gastrointestinal stromal tumor, somatic 606764",
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            "entity_name": "PDGFRA",
            "entity_type": "gene",
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                "NHS GMS",
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                "Expert list"
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                "Polyostotic osteolytic dysplasia (hereditary expansile)",
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