GET /api/v1/panels/235/?version=1.18
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{
    "id": 235,
    "name": "Distal myopathies",
    "strs": [
        {
            "tags": [
                "STR"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert list"
            ],
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                "alias": [
                    "AIS",
                    "NR3C4",
                    "SMAX1",
                    "HUMARA"
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                "hgnc_id": "HGNC:644",
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                "omim_gene": [
                    "313700"
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                "alias_name": [
                    "testicular feminization",
                    "Kennedy disease"
                ],
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                "hgnc_symbol": "AR",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                    }
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                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "chromosome": "X",
            "penetrance": null,
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                "Spinal and bulbar muscular atrophy or Kennedy diseases 313200"
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            "entity_name": "AR_CAG",
            "entity_type": "str",
            "publications": [],
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            "confidence_level": "3",
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        },
        {
            "tags": [
                "STR",
                "NGS Not Validated"
            ],
            "evidence": [
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "RNF163",
                    "ZCCHC22",
                    "CNBP1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13164",
                "gene_name": "CCHC-type zinc finger nucleic acid binding protein",
                "omim_gene": [
                    "116955"
                ],
                "alias_name": null,
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                "hgnc_symbol": "CNBP",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                    },
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                            "location": "3:129169484-129183922",
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                },
                "hgnc_date_symbol_changed": "2006-06-29"
            },
            "chromosome": "3",
            "penetrance": null,
            "phenotypes": [
                "Myotonic dystrophy 2 602668"
            ],
            "entity_name": "CNBP_CCTG",
            "entity_type": "str",
            "publications": [],
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            "confidence_level": "1",
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        }
    ],
    "genes": [
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "gene_data": {
                "alias": [
                    "NEM3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:129",
                "gene_name": "actin, alpha 1, skeletal muscle",
                "omim_gene": [
                    "102610"
                ],
                "alias_name": [
                    "nemaline myopathy type 3"
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                "gene_symbol": "ACTA1",
                "hgnc_symbol": "ACTA1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "1:229566992-229569845",
                            "ensembl_id": "ENSG00000143632"
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                    },
                    "GRch38": {
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                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "penetrance": "Incomplete",
            "phenotypes": [
                "Nemaline myopathy 3, 161800"
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            "transcript": null,
            "entity_name": "ACTA1",
            "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": [
                "Expert Review Green",
                "Expert Review"
            ],
            "gene_data": {
                "alias": [
                    "GDD1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:27337",
                "gene_name": "anoctamin 5",
                "omim_gene": [
                    "608662"
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                "alias_name": null,
                "gene_symbol": "ANO5",
                "hgnc_symbol": "ANO5",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "11:22214722-22304903",
                            "ensembl_id": "ENSG00000171714"
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                    },
                    "GRch38": {
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                            "location": "11:22193176-22283357",
                            "ensembl_id": "ENSG00000171714"
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                    }
                },
                "hgnc_date_symbol_changed": "2008-08-28"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Miyoshi muscular dystrophy 3, 613319"
            ],
            "transcript": null,
            "entity_name": "ANO5",
            "entity_type": "gene",
            "publications": [
                "20096397"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:939",
                "gene_name": "BCL2 associated athanogene 3",
                "omim_gene": [
                    "603883"
                ],
                "alias_name": null,
                "gene_symbol": "BAG3",
                "hgnc_symbol": "BAG3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:121410882-121437331",
                            "ensembl_id": "ENSG00000151929"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "10:119651370-119677819",
                            "ensembl_id": "ENSG00000151929"
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                    }
                },
                "hgnc_date_symbol_changed": "1999-04-23"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "myofibrillar myopathy 6, 612954"
            ],
            "transcript": null,
            "entity_name": "BAG3",
            "entity_type": "gene",
            "publications": [
                "21361913",
                "19085932"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "currently-ngs-unreportable",
                "nucleotide-repeat-expansion"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "gene_data": {
                "alias": [
                    "RNF163",
                    "ZCCHC22",
                    "CNBP1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13164",
                "gene_name": "CCHC-type zinc finger nucleic acid binding protein",
                "omim_gene": [
                    "116955"
                ],
                "alias_name": null,
                "gene_symbol": "CNBP",
                "hgnc_symbol": "CNBP",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:128888327-128902765",
                            "ensembl_id": "ENSG00000169714"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:129169484-129183922",
                            "ensembl_id": "ENSG00000169714"
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                    }
                },
                "hgnc_date_symbol_changed": "2006-06-29"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Myotonic dystrophy 2, 602668"
            ],
            "transcript": null,
            "entity_name": "CNBP",
            "entity_type": "gene",
            "publications": [],
            "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",
                "Eligibility statement prior genetic testing"
            ],
            "gene_data": {
                "alias": [
                    "HSPB5"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2389",
                "gene_name": "crystallin alpha B",
                "omim_gene": [
                    "123590"
                ],
                "alias_name": null,
                "gene_symbol": "CRYAB",
                "hgnc_symbol": "CRYAB",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:111779289-111794446",
                            "ensembl_id": "ENSG00000109846"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "11:111908565-111923722",
                            "ensembl_id": "ENSG00000109846"
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                    }
                },
                "hgnc_date_symbol_changed": "1987-09-11"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Myopathy, myofibrillar 2, 608810"
            ],
            "transcript": null,
            "entity_name": "CRYAB",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Eligibility statement prior genetic testing"
            ],
            "gene_data": {
                "alias": [
                    "CMD1I",
                    "CSM1",
                    "CSM2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2770",
                "gene_name": "desmin",
                "omim_gene": [
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                "alias_name": [
                    "intermediate filament protein"
                ],
                "gene_symbol": "DES",
                "hgnc_symbol": "DES",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "ensembl_id": "ENSG00000175084"
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                    },
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                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Myopathy, myofibrillar 1, 601419"
            ],
            "transcript": null,
            "entity_name": "DES",
            "entity_type": "gene",
            "publications": [
                "20718792"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "gene_data": {
                "alias": [
                    "MRJ"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14888",
                "gene_name": "DnaJ heat shock protein family (Hsp40) member B6",
                "omim_gene": [
                    "611332"
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                "alias_name": null,
                "gene_symbol": "DNAJB6",
                "hgnc_symbol": "DNAJB6",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "7:157128075-157210133",
                            "ensembl_id": "ENSG00000105993"
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                    },
                    "GRch38": {
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                    }
                },
                "hgnc_date_symbol_changed": "2001-03-09"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "limb-girdle muscular dystrophy type 1E, 603511"
            ],
            "transcript": null,
            "entity_name": "DNAJB6",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "gene_data": {
                "alias": [
                    "DYNII",
                    "DYN2",
                    "CMTDIB",
                    "CMTDI1",
                    "DI-CMTB",
                    "CMT2M"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2974",
                "gene_name": "dynamin 2",
                "omim_gene": [
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                "alias_name": [
                    "dynamin II",
                    "cytoskeletal protein"
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                "hgnc_symbol": "DNM2",
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                "hgnc_date_symbol_changed": "1996-10-11"
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            "penetrance": "Complete",
            "phenotypes": [
                "Myopathy, centronuclear,\t160150"
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            "transcript": null,
            "entity_name": "DNM2",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
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            "gene_data": {
                "alias": [
                    "FER1L1"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3097",
                "gene_name": "dysferlin",
                "omim_gene": [
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                    "fer-1-like family member 1"
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                "gene_symbol": "DYSF",
                "hgnc_symbol": "DYSF",
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                    "GRch37": {
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                },
                "hgnc_date_symbol_changed": "1994-03-24"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Miyoshi muscular dystrophy 1, 254130"
            ],
            "transcript": null,
            "entity_name": "DYSF",
            "entity_type": "gene",
            "publications": [
                "20301480"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "gene_data": {
                "alias": [
                    "SLIM1",
                    "KYO-T",
                    "bA535K18.1",
                    "FHL1B",
                    "XMPMA",
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                    "MGC111107"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3702",
                "gene_name": "four and a half LIM domains 1",
                "omim_gene": [
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                ],
                "alias_name": [
                    "Four-and-a-half LIM domains 1",
                    "LIM protein SLIMMER"
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                "hgnc_symbol": "FHL1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "X:135229559-135293518",
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                    "GRch38": {
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                },
                "hgnc_date_symbol_changed": "1997-08-28"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718"
            ],
            "transcript": null,
            "entity_name": "FHL1",
            "entity_type": "gene",
            "publications": [
                "22094483",
                "7709723"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "gene_data": {
                "alias": [
                    "ABP-280",
                    "ABPL"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3756",
                "gene_name": "filamin C",
                "omim_gene": [
                    "102565"
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                "alias_name": [
                    "actin binding protein 280",
                    "gamma filamin"
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                "gene_symbol": "FLNC",
                "hgnc_symbol": "FLNC",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "7:128470431-128499328",
                            "ensembl_id": "ENSG00000128591"
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                    },
                    "GRch38": {
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                            "location": "7:128830377-128859274",
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                    }
                },
                "hgnc_date_symbol_changed": "1993-08-24"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "myofibrillar myopathy 5, 609524",
                "Distal myopathy 4, 614065"
            ],
            "transcript": null,
            "entity_name": "FLNC",
            "entity_type": "gene",
            "publications": [
                "21620354",
                "15824355",
                "15929027"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "gene_data": {
                "alias": [
                    "Uae1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:23657",
                "gene_name": "glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase",
                "omim_gene": [
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                "alias_name": [
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                "gene_symbol": "GNE",
                "hgnc_symbol": "GNE",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "9:36214438-36277053",
                            "ensembl_id": "ENSG00000159921"
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                    },
                    "GRch38": {
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                    }
                },
                "hgnc_date_symbol_changed": "2003-11-28"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Nonaka myopathy, 605820"
            ],
            "transcript": null,
            "entity_name": "GNE",
            "entity_type": "gene",
            "publications": [
                "16372135"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "HSP27",
                    "HSP28",
                    "Hs.76067",
                    "Hsp25",
                    "CMT2F"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:5246",
                "gene_name": "heat shock protein family B (small) member 1",
                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "HSPB1",
                "hgnc_symbol": "HSPB1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:75931861-75933612",
                            "ensembl_id": "ENSG00000106211"
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                    },
                    "GRch38": {
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                            "location": "7:76302544-76304295",
                            "ensembl_id": "ENSG00000106211"
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                    }
                },
                "hgnc_date_symbol_changed": "1991-07-09"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Neuropathy, distal hereditary motor type IIB, 608634"
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            "transcript": null,
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            ],
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            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
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                "Expert Review"
            ],
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                    "E2IG1",
                    "HSP22",
                    "HspB8",
                    "CMT2L"
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                "hgnc_id": "HGNC:30171",
                "gene_name": "heat shock protein family B (small) member 8",
                "omim_gene": [
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            },
            "penetrance": "Complete",
            "phenotypes": [
                "Neuropathy, distal hereditary motor type IIA, 158590",
                "distal myopathy"
            ],
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            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
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        },
        {
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            "evidence": [
                "Expert Review Green",
                "Eligibility statement prior genetic testing"
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            "gene_data": {
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                    "KIAA0613",
                    "ZASP"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:15710",
                "gene_name": "LIM domain binding 3",
                "omim_gene": [
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                ],
                "alias_name": [
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                    "oracle",
                    "Z-band alternatively spliced PDZ motif protein"
                ],
                "gene_symbol": "LDB3",
                "hgnc_symbol": "LDB3",
                "hgnc_release": "2017-11-03T00:00:00",
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                    },
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                "hgnc_date_symbol_changed": "2001-12-04"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Myopathy, myofibrillar 4, 609452"
            ],
            "transcript": null,
            "entity_name": "LDB3",
            "entity_type": "gene",
            "publications": [
                "15668942"
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            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
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                    "MGC9105",
                    "VCPDM"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6912",
                "gene_name": "matrin 3",
                "omim_gene": [
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                "gene_symbol": "MATR3",
                "hgnc_symbol": "MATR3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "5:138609441-138667360",
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                    },
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                            "ensembl_id": "ENSG00000015479"
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                    }
                },
                "hgnc_date_symbol_changed": "1999-07-21"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Distal Myopathy"
            ],
            "transcript": null,
            "entity_name": "MATR3",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
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                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7577",
                "gene_name": "myosin heavy chain 7",
                "omim_gene": [
                    "160760"
                ],
                "alias_name": null,
                "gene_symbol": "MYH7",
                "hgnc_symbol": "MYH7",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "14:23881947-23904927",
                            "ensembl_id": "ENSG00000092054"
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                    },
                    "GRch38": {
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                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "penetrance": "Incomplete",
            "phenotypes": [
                "Laing distal myopathy, 160500"
            ],
            "transcript": null,
            "entity_name": "MYH7",
            "entity_type": "gene",
            "publications": [
                "20301606"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
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            "evidence": [
                "Expert Review Green",
                "Eligibility statement prior genetic testing"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12399",
                "gene_name": "myotilin",
                "omim_gene": [
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                ],
                "alias_name": null,
                "gene_symbol": "MYOT",
                "hgnc_symbol": "MYOT",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "5:137203480-137223540",
                            "ensembl_id": "ENSG00000120729"
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                    },
                    "GRch38": {
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                            "ensembl_id": "ENSG00000120729"
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                },
                "hgnc_date_symbol_changed": "2005-09-07"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Myopathy, myofibrillar 3, 609200"
            ],
            "transcript": null,
            "entity_name": "MYOT",
            "entity_type": "gene",
            "publications": [
                "15111675"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
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            "gene_data": {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7720",
                "gene_name": "nebulin",
                "omim_gene": [
                    "161650"
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                "alias_name": [
                    "nemaline myopathy type 2"
                ],
                "gene_symbol": "NEB",
                "hgnc_symbol": "NEB",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "2:152341850-152591001",
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                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Nemaline myopathy 2, 256030"
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            "transcript": null,
            "entity_name": "NEB",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
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            "gene_data": {
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                    "p60",
                    "p62B",
                    "A170"
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                "biotype": "protein_coding",
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                "hgnc_symbol": "SQSTM1",
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                "ensembl_genes": {
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                            "location": "5:179233388-179265078",
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                "hgnc_date_symbol_changed": "2000-06-13"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Dystal Myopathy with rimmed vacuoles, 617158"
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            "transcript": null,
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            "entity_type": "gene",
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                "26208961"
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            "confidence_level": "3",
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        },
        {
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                "Radboud University Medical Center, Nijmegen"
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                    "nucleolysin TIA-1 isoform p40"
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                "Welander distal myopathy, 604454"
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            "confidence_level": "3",
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            "evidence": [
                "Expert Review Green",
                "Illumina TruGenome Clinical Sequencing Services"
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                    "FLJ32040",
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            "penetrance": "Complete",
            "phenotypes": [
                "Tibial muscular dystrophy, tardive, 600334"
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            "transcript": null,
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        {
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            "evidence": [
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                "Expert Review"
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            "penetrance": "Complete",
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            "entity_type": "gene",
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            "entity_name": "ADSSL1",
            "entity_type": "gene",
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            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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        {
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                "Eligibility statement prior genetic testing"
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                    "DXS142",
                    "DXS164",
                    "DXS206",
                    "DXS230",
                    "DXS239",
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                    "DXS269",
                    "DXS270",
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                "hgnc_symbol": "DMD",
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                "Expert Review Red",
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            "mode_of_pathogenicity": "Other - please provide details in the comments"
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                "Expert list"
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                "hgnc_id": "HGNC:18732",
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                "distal myopathy (no OMIM number)"
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            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
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        "number_of_regions": 0
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            "name": "Rare Disease 100K",
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        {
            "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": "Component Of Super Panel",
            "slug": "component-of-super-panel",
            "description": "This panel is a component of a Super Panel"
        },
        {
            "name": "GMS signed-off",
            "slug": "gms-signed-off",
            "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
        }
    ],
    "status": "public",
    "hash_id": "55b7a0bb22c1fc05fd2345d1",
    "regions": [],
    "version": "1.18",
    "disease_group": "Neurology and neurodevelopmental disorders",
    "version_created": "2020-03-02T14:52:03.482667Z",
    "disease_sub_group": "Neuromuscular disorders",
    "relevant_disorders": [],
    "signed_off": null
}