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{
    "id": 508,
    "name": "Confirmed Fanconi anaemia or Bloom syndrome",
    "strs": [],
    "genes": [
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                "Expert Review Green",
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                "210900 Bloom syndrome",
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                "605724 Fanconi anemia, complementation group D1",
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                "hgnc_date_symbol_changed": "2003-04-11"
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            "penetrance": null,
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                "609054 Fanconi anemia, complementation group J",
                "Fanconi anemia, complementation group J, 609054"
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        {
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                "alias": [
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                "gene_symbol": "ERCC4",
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            "penetrance": null,
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                "Fanconi anemia, complementation group Q, 615272",
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        {
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                "NHS GMS",
                "Expert Review Green",
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                "biotype": "protein_coding",
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                "gene_symbol": "FANCA",
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                "Fanconi anemia, complementation group A, 227650",
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                "227650 Fanconi anemia complementation group A"
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        },
        {
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                "Expert Review Green",
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                "Fanconi anemia, complementation group N, 610832",
                "610832 Fanconi anemia, complementation group N"
            ],
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        {
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                "Expert Review Green",
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                "613951 Fanconi Anemia Fanconi anemia, complementation group P",
                "Fanconi anemia, complementation group P, 613951"
            ],
            "transcript": null,
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                "21240277"
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        },
        {
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                "NHS GMS",
                "Expert Review Green",
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                "hgnc_symbol": "TOP3A",
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            "phenotypes": [
                "Microcephaly, growth restriction, and increased sister chromatid exchange 2",
                "618097 MGRISCE2 (Bloom-like syndrome)",
                "MGRISCE2 (Bloom-like syndrome) 618097"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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        },
        {
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                "Expert Review Green",
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                "hgnc_symbol": "UBE2T",
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                    }
                },
                "hgnc_date_symbol_changed": "2005-03-21"
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            "penetrance": null,
            "phenotypes": [
                "616435 Fanconi anemia, complementation group T",
                "Falcon anemia",
                "Fanconi anemia, complementation group T, 616435"
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            "entity_type": "gene",
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            "confidence_level": "3",
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        {
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                },
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            "phenotypes": [
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                "617243 ?Fanconi anemia, complementation group V"
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            "penetrance": null,
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                "Fanconi anemia, complementation group O, 613390",
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                "Fanconi anemia, complementation group M, 614087"
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        "number_of_regions": 0
    },
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        {
            "name": "GMS Rare Disease Virtual",
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            "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."
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    "version_created": "2020-10-15T16:27:57.265206Z",
    "disease_sub_group": "",
    "relevant_disorders": [
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}