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{
    "id": 207,
    "name": "Congenital muscular dystrophy",
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        {
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            "penetrance": "Complete",
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                "Ullrich congenital muscular dystrophy 2",
                "Bethlem myopathy 2"
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                            "ensembl_id": "ENSG00000181027"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:46746046-46776988",
                            "ensembl_id": "ENSG00000181027"
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                    }
                },
                "hgnc_date_symbol_changed": "2003-12-04"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5",
                "Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5"
            ],
            "transcript": null,
            "entity_name": "FKRP",
            "entity_type": "gene",
            "publications": [
                "11592034"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "structural-variant"
            ],
            "evidence": [
                "NHS GMS",
                "London South GLH",
                "Expert Review Green",
                "",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services",
                "Emory Genetics Laboratory"
            ],
            "gene_data": {
                "alias": [
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                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3622",
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                "omim_gene": [
                    "607440"
                ],
                "alias_name": null,
                "gene_symbol": "FKTN",
                "hgnc_symbol": "FKTN",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                        "82": {
                            "location": "9:108320411-108403399",
                            "ensembl_id": "ENSG00000106692"
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                    },
                    "GRch38": {
                        "90": {
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                            "ensembl_id": "ENSG00000106692"
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                    }
                },
                "hgnc_date_symbol_changed": "2007-11-21"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Fukuyama congenital muscular dystrophy",
                "Fukuyama Congenital Muscular Dystrophy",
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type"
            ],
            "transcript": null,
            "entity_name": "FKTN",
            "entity_type": "gene",
            "publications": [
                "12601708",
                "14627679"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "London South GLH",
                "Expert Review Green",
                "",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "KIAA1851"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:22932",
                "gene_name": "GDP-mannose pyrophosphorylase B",
                "omim_gene": [
                    "615320"
                ],
                "alias_name": [
                    "mannose-1-phosphate guanyltransferase beta"
                ],
                "gene_symbol": "GMPPB",
                "hgnc_symbol": "GMPPB",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:49754277-49761384",
                            "ensembl_id": "ENSG00000173540"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "3:49716844-49723951",
                            "ensembl_id": "ENSG00000173540"
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                    }
                },
                "hgnc_date_symbol_changed": "2005-01-10"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14",
                "Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14",
                "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14"
            ],
            "transcript": null,
            "entity_name": "GMPPB",
            "entity_type": "gene",
            "publications": [
                "26133662",
                "23768512"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "London South GLH",
                "Expert Review Green",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "SKIP"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:33882",
                "gene_name": "inositol polyphosphate-5-phosphatase K",
                "omim_gene": [
                    "607875"
                ],
                "alias_name": [
                    "skeletal muscle and kidney enriched inositol phosphatase"
                ],
                "gene_symbol": "INPP5K",
                "hgnc_symbol": "INPP5K",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:1397865-1420182",
                            "ensembl_id": "ENSG00000132376"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "17:1494571-1516888",
                            "ensembl_id": "ENSG00000132376"
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                    }
                },
                "hgnc_date_symbol_changed": "2008-09-09"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Congenital Muscular Dystrophy Overlapping Marinesco-Sjogren Syndrome and Dystroglycanopathy",
                "Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment"
            ],
            "transcript": null,
            "entity_name": "INPP5K",
            "entity_type": "gene",
            "publications": [
                "28190459",
                "28190456"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "new-gene-name"
            ],
            "evidence": [
                "NHS GMS",
                "London South GLH",
                "Expert Review Green",
                "",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
                "alias": [
                    "hCG_1745121",
                    "IspD",
                    "Nip"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:37276",
                "gene_name": "isoprenoid synthase domain containing",
                "omim_gene": [
                    "614631"
                ],
                "alias_name": [
                    "notch1-induced protein",
                    "4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis)"
                ],
                "gene_symbol": "ISPD",
                "hgnc_symbol": "ISPD",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:16130817-16460947",
                            "ensembl_id": "ENSG00000214960"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:16087527-16421322",
                            "ensembl_id": "ENSG00000214960"
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                    }
                },
                "hgnc_date_symbol_changed": "2009-10-02"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Congenital Muscular Dystrophy, alpha-dystroglycan related",
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type",
                "Walker-Warburg syndrome (WWS)",
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7",
                "614643",
                "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7",
                "616052"
            ],
            "transcript": null,
            "entity_name": "ISPD",
            "entity_type": "gene",
            "publications": [
                "22522420, 22522421"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "London South GLH",
                "Expert Review Green",
                "",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6143",
                "gene_name": "integrin subunit alpha 7",
                "omim_gene": [
                    "600536"
                ],
                "alias_name": null,
                "gene_symbol": "ITGA7",
                "hgnc_symbol": "ITGA7",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:56078352-56109827",
                            "ensembl_id": "ENSG00000135424"
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                    },
                    "GRch38": {
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                            "location": "12:55684568-55716043",
                            "ensembl_id": "ENSG00000135424"
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                    }
                },
                "hgnc_date_symbol_changed": "1992-02-27"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Congenital Muscular Dystrophy, ITGA7-related",
                "Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204"
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            "transcript": null,
            "entity_name": "ITGA7",
            "entity_type": "gene",
            "publications": [
                "9590299",
                "18045857",
                "26076707"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "London South GLH",
                "Expert Review Green",
                "",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6482",
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                "omim_gene": [
                    "156225"
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                "alias_name": [
                    "merosin",
                    "congenital muscular dystrophy"
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                "gene_symbol": "LAMA2",
                "hgnc_symbol": "LAMA2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                    },
                    "GRch38": {
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                "hgnc_date_symbol_changed": "1992-05-06"
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            "penetrance": "Complete",
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                "Congenital Muscular Dystrophy, LAMA2-related",
                "Muscular dystrophy, congenital merosin-deficient, 607855",
                "Muscular dystrophy, congenital, due to partial LAMA2 deficiency 607855"
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            "transcript": null,
            "entity_name": "LAMA2",
            "entity_type": "gene",
            "publications": [
                "12552556",
                "7550355"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "London South GLH",
                "Expert Review Green",
                "",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6511",
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                "omim_gene": [
                    "603590"
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                "alias_name": [
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                "gene_symbol": "LARGE1",
                "hgnc_symbol": "LARGE1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "22:33558212-34318829",
                            "ensembl_id": "ENSG00000133424"
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                    },
                    "GRch38": {
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                            "location": "22:33162226-33922841",
                            "ensembl_id": "ENSG00000133424"
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                "hgnc_date_symbol_changed": "2016-05-31"
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            "penetrance": "Complete",
            "phenotypes": [
                "Congenital Muscular Dystrophy, alpha-dystroglycan related",
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154",
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            "transcript": null,
            "entity_name": "LARGE1",
            "entity_type": "gene",
            "publications": [
                "12966029"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services"
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            "gene_data": {
                "alias": [
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                    "MADA"
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                "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": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "1:156052364-156109880",
                            "ensembl_id": "ENSG00000160789"
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                    },
                    "GRch38": {
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                            "ensembl_id": "ENSG00000160789"
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                },
                "hgnc_date_symbol_changed": "1992-04-09"
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            "penetrance": "Complete",
            "phenotypes": [
                "Congenital Muscular Dystrophy, LMNA-related (Dominant)",
                "Emery-Dreifuss muscular dystrophy 2, AD, 181350"
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            "transcript": null,
            "entity_name": "LMNA",
            "entity_type": "gene",
            "publications": [
                "15622532",
                "18551513",
                "15148145"
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            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "London South GLH",
                "Expert Review Green",
                "Expert Review"
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            "gene_data": {
                "alias": [
                    "CALC",
                    "EFHA3",
                    "FLJ12684"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1530",
                "gene_name": "mitochondrial calcium uptake 1",
                "omim_gene": [
                    "605084"
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                "alias_name": null,
                "gene_symbol": "MICU1",
                "hgnc_symbol": "MICU1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:74127098-74385899",
                            "ensembl_id": "ENSG00000107745"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "10:72367327-72626191",
                            "ensembl_id": "ENSG00000107745"
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                },
                "hgnc_date_symbol_changed": "2011-06-23"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Myopathy with extrapyramidal signs, 615673"
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            "transcript": null,
            "entity_name": "MICU1",
            "entity_type": "gene",
            "publications": [
                "24336167"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
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                "Expert Review Green",
                "NHS GMS",
                "London South GLH"
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            "gene_data": {
                "alias": [
                    "FLJ10504",
                    "LST005",
                    "MST",
                    "misato"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29678",
                "gene_name": "misato 1, mitochondrial distribution and morphology regulator",
                "omim_gene": [
                    "617619"
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                "alias_name": null,
                "gene_symbol": "MSTO1",
                "hgnc_symbol": "MSTO1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "1:155579979-155718153",
                            "ensembl_id": "ENSG00000125459"
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                    },
                    "GRch38": {
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                            "location": "1:155610205-155614967",
                            "ensembl_id": "ENSG00000125459"
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                },
                "hgnc_date_symbol_changed": "2005-07-19"
            },
            "penetrance": null,
            "phenotypes": [
                "Congenital muscular dystrophy with Brain involvment",
                "Myopathy, mitochondrial, and ataxia, 617675"
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            "entity_name": "MSTO1",
            "entity_type": "gene",
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                "29339779"
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            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
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            "gene_data": {
                "alias": [
                    "TMEM226"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:33778",
                "gene_name": "myomaker, myoblast fusion factor",
                "omim_gene": [
                    "615345"
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                "alias_name": [
                    "transmembrane protein 226"
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                "gene_symbol": "MYMK",
                "hgnc_symbol": "MYMK",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "9:136379708-136393734",
                            "ensembl_id": "ENSG00000187616"
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                    },
                    "GRch38": {
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                            "location": "9:133514586-133528612",
                            "ensembl_id": "ENSG00000187616"
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                    }
                },
                "hgnc_date_symbol_changed": "2017-05-11"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Carey-Fineman-Ziter syndrome, 254940"
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            "transcript": null,
            "entity_name": "MYMK",
            "entity_type": "gene",
            "publications": [
                "28681861"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "NHS GMS",
                "London South GLH",
                "",
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            ],
            "gene_data": {
                "alias": [
                    "PCN",
                    "PLTN"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9069",
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                "omim_gene": [
                    "601282"
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                "alias_name": null,
                "gene_symbol": "PLEC",
                "hgnc_symbol": "PLEC",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "8:144989321-145050902",
                            "ensembl_id": "ENSG00000178209"
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                    },
                    "GRch38": {
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                            "ensembl_id": "ENSG00000178209"
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                    }
                },
                "hgnc_date_symbol_changed": "2010-02-04"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Muscular dystrophy with epidermolysis bullosa simplex, 226670",
                "Muscular dystrophy, limb-girdle autosomal recessive 17, 613723",
                "Epidermolysis bullosa simplex with muscular dystrophy, 226670"
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            "entity_name": "PLEC",
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                "20624679",
                "28447722"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "London South GLH",
                "Expert Review Green",
                "",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services"
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            "gene_data": {
                "alias": [
                    "FLJ20277",
                    "MGAT1.2",
                    "LGMD2O"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:19139",
                "gene_name": "protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)",
                "omim_gene": [
                    "606822"
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                "alias_name": [
                    "protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"
                ],
                "gene_symbol": "POMGNT1",
                "hgnc_symbol": "POMGNT1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                        "82": {
                            "location": "1:46654354-46685977",
                            "ensembl_id": "ENSG00000085998"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "1:46188682-46220305",
                            "ensembl_id": "ENSG00000085998"
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                    }
                },
                "hgnc_date_symbol_changed": "2005-06-02"
            },
            "penetrance": "Complete",
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                        "82": {
                            "location": "2:71680852-71913898",
                            "ensembl_id": "ENSG00000135636"
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                    },
                    "GRch38": {
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                    }
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                "hgnc_date_symbol_changed": "1994-03-24"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Muscular dystrophy, limb-girdle, type 2B, 253601",
                "Myopathy, distal, with anterior tibial onset, 606768",
                "Miyoshi muscular dystrophy 1, 254130"
            ],
            "transcript": null,
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            "publications": [
                "25821721"
            ],
            "confidence_level": "2",
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        },
        {
            "tags": [],
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                "Expert Review Amber",
                "NHS GMS",
                "London South GLH"
            ],
            "gene_data": {
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                ],
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                "hgnc_symbol": "GOLGA2",
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                    },
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                },
                "hgnc_date_symbol_changed": "1997-11-05"
            },
            "penetrance": null,
            "phenotypes": [
                "Secondary dystroglycanopathy"
            ],
            "transcript": null,
            "entity_name": "GOLGA2",
            "entity_type": "gene",
            "publications": [
                "26742501",
                "30237576"
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        },
        {
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                "watchlist"
            ],
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                "Expert Review Amber",
                "NHS GMS",
                "London South GLH"
            ],
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                "ensembl_genes": {
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            },
            "penetrance": null,
            "phenotypes": [
                "?Muscular dystrophy, limb-girdle, autosomal recessive 21, 617232"
            ],
            "transcript": null,
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                "27807076"
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            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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        },
        {
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                "Expert Review Amber",
                "",
                "Emory Genetics Laboratory"
            ],
            "gene_data": {
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                    "TELE",
                    "telethonin",
                    "CMD1N"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11610",
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                ],
                "alias_name": [
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                "hgnc_symbol": "TCAP",
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            },
            "penetrance": "Complete",
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            ],
            "transcript": null,
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                "23479141",
                "21530252"
            ],
            "confidence_level": "2",
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            "mode_of_pathogenicity": ""
        },
        {
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                "Illumina TruGenome Clinical Sequencing Services",
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            ],
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                ],
                "biotype": "protein_coding",
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                "omim_gene": [
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                "ensembl_genes": {
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            "penetrance": "Complete",
            "phenotypes": [
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                "Muscular dystrophy, limb-girdle, type 2L, 611307Miyoshi muscular dystrophy 3, 613319",
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            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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        },
        {
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                "London South GLH"
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                ],
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                "hgnc_symbol": "BET1",
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                "hgnc_date_symbol_changed": "2001-04-05"
            },
            "penetrance": null,
            "phenotypes": [
                "Congenital muscular dystrophy with epilepsy"
            ],
            "transcript": null,
            "entity_name": "BET1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
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            "evidence": [
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                "London South GLH",
                "Expert Review Red",
                "Expert Review"
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            "gene_data": {
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                "omim_gene": [
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                "alias_name": [
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                "hgnc_symbol": "COL4A2",
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            "penetrance": "Complete",
            "phenotypes": [],
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            "entity_name": "COL4A2",
            "entity_type": "gene",
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                "22037604"
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        },
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                "UKGTN"
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            "penetrance": "Complete",
            "phenotypes": [
                "Facioscapulohumeral Muscular Dystrophy 1A"
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            "entity_name": "DUX4",
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                "28040729",
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            "mode_of_pathogenicity": "Other - please provide details in the comments"
        },
        {
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                "",
                "Emory Genetics Laboratory",
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            "penetrance": "Complete",
            "phenotypes": [
                "Emery-Dreifuss muscular dystrophy 1, X-linked, 310300"
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            "transcript": null,
            "entity_name": "EMD",
            "entity_type": "gene",
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            "confidence_level": "1",
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "mode_of_pathogenicity": ""
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        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "London South GLH"
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            "gene_data": {
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                    "GS27",
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                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4431",
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                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "GOSR2",
                "hgnc_symbol": "GOSR2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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            "penetrance": null,
            "phenotypes": [
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            ],
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            "entity_type": "gene",
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                "29855340"
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            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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        },
        {
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            "evidence": [
                "Expert Review Red",
                "",
                "Emory Genetics Laboratory",
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                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8565",
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                "gene_symbol": "PABPN1",
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            "penetrance": "Complete",
            "phenotypes": [
                "Oculopharyngeal muscular dystrophy, 164300",
                "Oculopharyngeal muscular dystrophy"
            ],
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            "entity_name": "PABPN1",
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            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
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        },
        {
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                "hgnc_id": "HGNC:10483",
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                "Minicore myopathy with external ophthalmoplegia",
                "Neuromuscular disease, congenital, with uniform type 1 fiber"
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            "entity_name": "RYR1",
            "entity_type": "gene",
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            "confidence_level": "1",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
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        {
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            "evidence": [
                "Expert Review Red",
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            "gene_data": {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29090",
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            "penetrance": "Complete",
            "phenotypes": [
                "Fascioscapulohumeral muscular dystrophy 2, digenic, 158901"
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            "entity_name": "SMCHD1",
            "entity_type": "gene",
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            "mode_of_pathogenicity": ""
        },
        {
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            "evidence": [
                "Expert Review Red",
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                    "Nesprin-2",
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                "biotype": "protein_coding",
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            "penetrance": "Complete",
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                "Emery-Dreifuss Muscular Dystrophy",
                "Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999"
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            "evidence": [
                "Expert Review Red",
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            ],
            "gene_data": {
                "alias": [
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                    "DKFZp586G1919",
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:28472",
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            "phenotypes": [
                "Emery-Dreifuss muscular dystrophy 7, AD 614302"
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        "number_of_regions": 0
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    "types": [
        {
            "name": "Rare Disease 100K",
            "slug": "rare-disease-100k",
            "description": "Rare Disease 100K"
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        {
            "name": "GMS Rare Disease",
            "slug": "gms-rare-disease",
            "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
        },
        {
            "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": "55b117c022c1fc7dd7ce411c",
    "regions": [],
    "version": "2.2",
    "disease_group": "Neurology and neurodevelopmental disorders",
    "version_created": "2020-03-02T15:33:02.203097Z",
    "disease_sub_group": "Neuromuscular disorders",
    "relevant_disorders": [
        "R79"
    ],
    "signed_off": "2020-03-02"
}