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{
    "id": 232,
    "name": "Congenital myaesthenic syndrome",
    "strs": [],
    "genes": [
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Wessex and West Midlands GLH",
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:329",
                "gene_name": "agrin",
                "omim_gene": [
                    "103320"
                ],
                "alias_name": null,
                "gene_symbol": "AGRN",
                "hgnc_symbol": "AGRN",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:955503-991496",
                            "ensembl_id": "ENSG00000188157"
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                    },
                    "GRch38": {
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                            "ensembl_id": "ENSG00000188157"
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                    }
                },
                "hgnc_date_symbol_changed": "2007-02-16"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Congenital myasthenic syndrome",
                "Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120"
            ],
            "transcript": null,
            "entity_name": "AGRN",
            "entity_type": "gene",
            "publications": [
                "24951643",
                "22205389",
                "24951643",
                "19631309"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "NHS GMS",
                "Wessex and West Midlands GLH",
                "Eligibility statement prior genetic testing"
            ],
            "gene_data": {
                "alias": [
                    "MGC19780"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:28287",
                "gene_name": "ALG14, UDP-N-acetylglucosaminyltransferase subunit",
                "omim_gene": [
                    "612866"
                ],
                "alias_name": null,
                "gene_symbol": "ALG14",
                "hgnc_symbol": "ALG14",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:95439963-95538501",
                            "ensembl_id": "ENSG00000172339"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:94974407-95072945",
                            "ensembl_id": "ENSG00000172339"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-08-09"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Congenital myasthenic syndrome",
                "?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227"
            ],
            "transcript": null,
            "entity_name": "ALG14",
            "entity_type": "gene",
            "publications": [
                "28733338",
                "23404334"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "NHS GMS",
                "Wessex and West Midlands GLH",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory"
            ],
            "gene_data": {
                "alias": [
                    "CDGIi",
                    "FLJ14511",
                    "hALPG2",
                    "NET38",
                    "CDG1I"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:23159",
                "gene_name": "ALG2, alpha-1,3/1,6-mannosyltransferase",
                "omim_gene": [
                    "607905"
                ],
                "alias_name": null,
                "gene_symbol": "ALG2",
                "hgnc_symbol": "ALG2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:101978708-101984238",
                            "ensembl_id": "ENSG00000119523"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:99216426-99221956",
                            "ensembl_id": "ENSG00000119523"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-10-15"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Congenital myasthenic syndromes",
                "Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228",
                "Congenital disorder of glycosylation CDG type Ii, 607906"
            ],
            "transcript": null,
            "entity_name": "ALG2",
            "entity_type": "gene",
            "publications": [
                "23404334"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Wessex and West Midlands GLH",
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1912",
                "gene_name": "choline O-acetyltransferase",
                "omim_gene": [
                    "118490"
                ],
                "alias_name": null,
                "gene_symbol": "CHAT",
                "hgnc_symbol": "CHAT",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:50817141-50901925",
                            "ensembl_id": "ENSG00000070748"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:49609095-49665104",
                            "ensembl_id": "ENSG00000070748"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1990-03-14"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Myasthenic syndrome, congenital, 6, presynaptic, 254210",
                "Congenital myasthenics sndrome associated with episodic apnea",
                "CMS-EA"
            ],
            "transcript": null,
            "entity_name": "CHAT",
            "entity_type": "gene",
            "publications": [
                "11172068",
                "12756141"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Wessex and West Midlands GLH",
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN",
                "Emory Genetics Laboratory",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1955",
                "gene_name": "cholinergic receptor nicotinic alpha 1 subunit",
                "omim_gene": [
                    "100690"
                ],
                "alias_name": [
                    "acetylcholine receptor, nicotinic, alpha 1 (muscle)"
                ],
                "gene_symbol": "CHRNA1",
                "hgnc_symbol": "CHRNA1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:175612320-175629200",
                            "ensembl_id": "ENSG00000138435"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:174747592-174787935",
                            "ensembl_id": "ENSG00000138435"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1989-05-25"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Congenital Myasthenic Syndrome, Dominant/Recessive",
                "Myasthenic syndrome, congenital, 1A, slow-channel, 601462",
                "Myasthenic syndrome, congenital, 1B, fast-channel, 608930",
                "Slow channel myasthenic syndrome",
                "fast channel myasthenic syndrome",
                "Acetylcholine receptor deficiency syndrome"
            ],
            "transcript": null,
            "entity_name": "CHRNA1",
            "entity_type": "gene",
            "publications": [
                "7619526",
                "15034283",
                "PMID:15079006 (Webster et al., 2004) report the heterozygous CHRNA1 mutation causing fast-channel congenital myasthenic syndrome-1B (OMIM:608930). The other reports for this disorder are for biallelic mutations."
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": "Other - please provide details in the comments"
        },
        {
            "tags": [
                "deletions"
            ],
            "evidence": [
                "NHS GMS",
                "Wessex and West Midlands GLH",
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN",
                "Emory Genetics Laboratory",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1961",
                "gene_name": "cholinergic receptor nicotinic beta 1 subunit",
                "omim_gene": [
                    "100710"
                ],
                "alias_name": [
                    "acetylcholine receptor, nicotinic, beta 1 (muscle)"
                ],
                "gene_symbol": "CHRNB1",
                "hgnc_symbol": "CHRNB1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:7348380-7361026",
                            "ensembl_id": "ENSG00000170175"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:7445061-7457707",
                            "ensembl_id": "ENSG00000170175"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1989-05-25"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314",
                "Myasthenic syndrome, congenital, 2A, slow-channel, 616313",
                "Slow channel myasthenic syndrome",
                "fast channel myasthenic syndrome",
                "Acetylcholine receptor deficiency syndrome",
                "Myasthenic syndrome, slow-channel congenital, 601462",
                "Congenital Myasthenic Syndrome, Dominant/Recessive"
            ],
            "transcript": null,
            "entity_name": "CHRNB1",
            "entity_type": "gene",
            "publications": [
                "8651643",
                "8872460",
                "22104196",
                "8651643",
                "In 3 siblings with congenital myasthenic syndrome-2C associated with AChR deficiency (OMIM:616314), Quiram et al. (1999, PMID:10562302) identified compound heterozygosity for 2 mutations in the CHRNB1 gene."
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": "Other - please provide details in the comments"
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Wessex and West Midlands GLH",
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN",
                "Emory Genetics Laboratory",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1965",
                "gene_name": "cholinergic receptor nicotinic delta subunit",
                "omim_gene": [
                    "100720"
                ],
                "alias_name": [
                    "acetylcholine receptor, nicotinic, delta (muscle)"
                ],
                "gene_symbol": "CHRND",
                "hgnc_symbol": "CHRND",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:233390703-233401377",
                            "ensembl_id": "ENSG00000135902"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:232525993-232536667",
                            "ensembl_id": "ENSG00000135902"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Congenital Myasthenic Syndrome, Dominant/Recessive",
                "Myasthenic syndrome, slow-channel congenital, 601462",
                "Slow channel myasthenic syndrome",
                "fast channel myasthenic syndrome",
                "Acetylcholine receptor deficiency syndrome",
                "?Myasthenic syndrome, congenital, 3A, slow-channel, 616321",
                "?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323",
                "Myasthenic syndrome, congenital, 3B, fast-channel, 616322"
            ],
            "transcript": null,
            "entity_name": "CHRND",
            "entity_type": "gene",
            "publications": [
                "16916845",
                "11782989",
                "11435464"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": "Other - please provide details in the comments"
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Wessex and West Midlands GLH",
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                "Illumina TruGenome Clinical Sequencing Services",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "ACHRE"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1966",
                "gene_name": "cholinergic receptor nicotinic epsilon subunit",
                "omim_gene": [
                    "100725"
                ],
                "alias_name": [
                    "acetylcholine receptor, nicotinic, epsilon (muscle)"
                ],
                "gene_symbol": "CHRNE",
                "hgnc_symbol": "CHRNE",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:4801069-4806369",
                            "ensembl_id": "ENSG00000108556"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:4897774-4903074",
                            "ensembl_id": "ENSG00000108556"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-04-23"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Congenital Myasthenic Syndrome, Dominant/Recessive",
                "Myasthenic syndrome, slow-channel congenital, 601462",
                "Myasthenic syndrome, congenital, 4A, slow-channel, 605809",
                "Myasthenic syndrome, congenital, 4B, fast-channel, 616324",
                "Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931",
                "Slow channel myasthenic syndrome",
                "fast channel myasthenic syndrome",
                "Acetylcholine receptor deficiency syndrome",
                "Reduced channel conductance syndrome"
            ],
            "transcript": null,
            "entity_name": "CHRNE",
            "entity_type": "gene",
            "publications": [
                "12417530",
                "14719537",
                "25792100",
                "24295813",
                "21175599"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Wessex and West Midlands GLH",
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1967",
                "gene_name": "cholinergic receptor nicotinic gamma subunit",
                "omim_gene": [
                    "100730"
                ],
                "alias_name": [
                    "acetylcholine receptor, nicotinic, gamma (muscle)"
                ],
                "gene_symbol": "CHRNG",
                "hgnc_symbol": "CHRNG",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:233404437-233411113",
                            "ensembl_id": "ENSG00000196811"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:232539727-232546403",
                            "ensembl_id": "ENSG00000196811"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Myasthenia gravis, neonatal transient",
                "Neonatal congenital myasthenia",
                "escobar syndrome",
                "fetal akinesia deformation sequence syndrome/FADS",
                "multiple pterygium syndrome/MPS"
            ],
            "transcript": null,
            "entity_name": "CHRNG",
            "entity_type": "gene",
            "publications": [
                "16826531",
                "22167768",
                "27245440",
                "25411939",
                "8040310",
                "16826520"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Wessex and West Midlands GLH",
                "Expert Review Green",
                "Eligibility statement prior genetic testing",
                "Literature"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2190",
                "gene_name": "collagen type XIII alpha 1 chain",
                "omim_gene": [
                    "120350"
                ],
                "alias_name": null,
                "gene_symbol": "COL13A1",
                "hgnc_symbol": "COL13A1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:71561644-71724031",
                            "ensembl_id": "ENSG00000197467"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:69801931-69964275",
                            "ensembl_id": "ENSG00000197467"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1988-08-05"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Congenital myasthenic syndrome type 19",
                "Myasthenic syndrome, congenital, 19, 616720"
            ],
            "transcript": null,
            "entity_name": "COL13A1",
            "entity_type": "gene",
            "publications": [
                "26626625"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "treatable"
            ],
            "evidence": [
                "NHS GMS",
                "Wessex and West Midlands GLH",
                "Expert Review Green",
                "Emory Genetics Laboratory",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
                "alias": [
                    "EAD"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2226",
                "gene_name": "collagen like tail subunit of asymmetric acetylcholinesterase",
                "omim_gene": [
                    "603033"
                ],
                "alias_name": [
                    "single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase",
                    "collagenic tail of endplate acetylcholinesterase",
                    "AChE Q subunit",
                    "acetylcholinesterase-associated collagen"
                ],
                "gene_symbol": "COLQ",
                "hgnc_symbol": "COLQ",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:15491640-15563258",
                            "ensembl_id": "ENSG00000206561"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:15450133-15521751",
                            "ensembl_id": "ENSG00000206561"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-09-14"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Congenital Myasthenic Syndrome, Recessive",
                "Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency",
                "Myasthenic syndrome, congenital, 5, 603034"
            ],
            "transcript": null,
            "entity_name": "COLQ",
            "entity_type": "gene",
            "publications": [
                "10665486",
                "9689136",
                "18180250",
                "10441569"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "treatable"
            ],
            "evidence": [
                "NHS GMS",
                "Wessex and West Midlands GLH",
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "FLJ33718",
                    "FLJ39137",
                    "Dok-7"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26594",
                "gene_name": "docking protein 7",
                "omim_gene": [
                    "610285"
                ],
                "alias_name": null,
                "gene_symbol": "DOK7",
                "hgnc_symbol": "DOK7",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:3465033-3503200",
                            "ensembl_id": "ENSG00000175920"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:3463311-3494483",
                            "ensembl_id": "ENSG00000175920"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-08-24"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Myasthenic syndrome, congenital, 10, 254300",
                "Myasthenia, limb-girdle, familial",
                "Limb girdle congenital myasthenic syndrome"
            ],
            "transcript": null,
            "entity_name": "DOK7",
            "entity_type": "gene",
            "publications": [
                "16917026",
                "17452375",
                "22661499",
                "18626973"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Wessex and West Midlands GLH",
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "GPT",
                    "D11S366",
                    "DGPT",
                    "ALG7",
                    "CDG-Ij"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2995",
                "gene_name": "dolichyl-phosphate N-acetylglucosaminephosphotransferase 1",
                "omim_gene": [
                    "191350"
                ],
                "alias_name": [
                    "GlcNAc-1-P transferase 1",
                    "UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase 1"
                ],
                "gene_symbol": "DPAGT1",
                "hgnc_symbol": "DPAGT1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                    },
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                    }
                },
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            },
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                "Limb girdle congenital myasthenic",
                "tubular aggregates",
                "congenital disorder of glycosylation type Ij (CDG-IJ)"
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            "entity_type": "gene",
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            "mode_of_pathogenicity": ""
        },
        {
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                "Wessex and West Midlands GLH",
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services"
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                    "GFA",
                    "GFAT1"
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                "hgnc_symbol": "GFPT1",
                "hgnc_release": "2017-11-03T00:00:00",
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                    }
                },
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            },
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                "Myasthenia, congenital, 12, with tubular aggregates, 610542",
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            "entity_name": "GFPT1",
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                "21310273",
                "22230109",
                "23569079"
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            "mode_of_pathogenicity": ""
        },
        {
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                "Wessex and West Midlands GLH",
                "Expert Review Green",
                "Eligibility statement prior genetic testing"
            ],
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                "biotype": "protein_coding",
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                "muscular dystrophy-dystroglycanopathy",
                "congenital muscular dystrophy with mental retardation",
                "GMPPB-CMS",
                "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 with features of congenital myasthenic syndrome",
                "MDDGC14 with features of CMS"
            ],
            "transcript": null,
            "entity_name": "GMPPB",
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                "27147698"
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        },
        {
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                "NHS GMS",
                "Wessex and West Midlands GLH",
                "Expert Review Green",
                "Eligibility statement prior genetic testing"
            ],
            "gene_data": {
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                    "CLSS",
                    "LRP-4",
                    "SOST2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6696",
                "gene_name": "LDL receptor related protein 4",
                "omim_gene": [
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                "alias_name": null,
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                "hgnc_symbol": "LRP4",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                    },
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            },
            "penetrance": "Complete",
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                "Congenital myasthenic syndrome",
                "Myasthenic syndrome, congenital, 17, 616304"
            ],
            "transcript": null,
            "entity_name": "LRP4",
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
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            ],
            "evidence": [
                "NHS GMS",
                "Wessex and West Midlands GLH",
                "Expert Review Green",
                "Emory Genetics Laboratory",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen"
            ],
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7525",
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                "alias_name": null,
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                "hgnc_symbol": "MUSK",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                },
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            },
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                "Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325",
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                "Congenital myasthenic syndrome"
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            "entity_name": "MUSK",
            "entity_type": "gene",
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            "mode_of_pathogenicity": ""
        },
        {
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            "evidence": [
                "Expert Review Green",
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                "Wessex and West Midlands GLH",
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            ],
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                    "FLJ13244",
                    "MGC71859"
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                "hgnc_id": "HGNC:7608",
                "gene_name": "myosin IXA",
                "omim_gene": [
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                ],
                "alias_name": null,
                "gene_symbol": "MYO9A",
                "hgnc_symbol": "MYO9A",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "15:72114632-72410918",
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                    },
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                            "ensembl_id": "ENSG00000066933"
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                    }
                },
                "hgnc_date_symbol_changed": "1996-04-04"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "congenital myasthenic syndrome 24, presynaptic 618198",
                "CMS"
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            "transcript": null,
            "entity_name": "MYO9A",
            "entity_type": "gene",
            "publications": [
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            "confidence_level": "3",
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            "mode_of_pathogenicity": ""
        },
        {
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            "evidence": [
                "NHS GMS",
                "Wessex and West Midlands GLH",
                "Expert Review Green",
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            "gene_data": {
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                    "PLTN"
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                "omim_gene": [
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                "alias_name": null,
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                "hgnc_symbol": "PLEC",
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                "hgnc_date_symbol_changed": "2010-02-04"
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            "penetrance": "Complete",
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                "Plectin deficiency",
                "myasthenic syndrome",
                "Congenital myasthenic syndrome associatedwith epidermolysis bullosa (EBS)"
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            "transcript": null,
            "entity_name": "PLEC",
            "entity_type": "gene",
            "publications": [
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                "27472506 (Review)",
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            "mode_of_pathogenicity": ""
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        {
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                "Wessex and West Midlands GLH",
                "Expert Review Green",
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                "Emory Genetics Laboratory",
                "Illumina TruGenome Clinical Sequencing Services",
                "UKGTN"
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            "gene_data": {
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                    "CMS1E"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9863",
                "gene_name": "receptor associated protein of the synapse",
                "omim_gene": [
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                "alias_name": [
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                "gene_symbol": "RAPSN",
                "hgnc_symbol": "RAPSN",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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            "entity_name": "RAPSN",
            "entity_type": "gene",
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                "Radboud University Medical Center, Nijmegen",
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                "omim_gene": [
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                "hgnc_symbol": "SCN4A",
                "hgnc_release": "2017-11-03T00:00:00",
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10936",
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                "alias_name": null,
                "gene_symbol": "SLC18A3",
                "hgnc_symbol": "SLC18A3",
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                "Myasthenic syndrome, congenital, 21, presynaptic, 617239"
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            "confidence_level": "3",
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                "Myasthenic syndrome, congenital, 20, presynaptic, 617143"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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        },
        {
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                "hemiplegic migraine plus disturbed NMJ function"
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                "myopia, facial tics, and failure of neuromuscular transmission"
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                "synaptic congenital myasthenic syndrome"
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                "myasthenic syndrome",
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                "RYR1-related congenital myopathy"
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        {
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}