GET /api/v1/panels/207/?format=api&version=2.2
HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept

{
    "id": 207,
    "name": "Congenital muscular dystrophy",
    "strs": [
        {
            "tags": [
                "STR"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "gene_data": {
                "alias": [
                    "DMK",
                    "DM1PK",
                    "MDPK",
                    "MT-PK"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2933",
                "gene_name": "DM1 protein kinase",
                "omim_gene": [
                    "605377"
                ],
                "alias_name": [
                    "dystrophia myotonica 1",
                    "DM protein kinase",
                    "myotonin protein kinase A",
                    "myotonic dystrophy associated protein kinase",
                    "thymopoietin homolog"
                ],
                "gene_symbol": "DMPK",
                "hgnc_symbol": "DMPK",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:46272975-46285810",
                            "ensembl_id": "ENSG00000104936"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:45769717-45782552",
                            "ensembl_id": "ENSG00000104936"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-10-10"
            },
            "chromosome": "19",
            "penetrance": null,
            "phenotypes": [
                "Myotonic dystrophy 1 160900"
            ],
            "entity_name": "DMPK_CTG",
            "entity_type": "str",
            "publications": [],
            "normal_repeats": 38,
            "confidence_level": "3",
            "repeated_sequence": "CTG",
            "grch37_coordinates": [
                46273463,
                46273522
            ],
            "grch38_coordinates": [
                45770205,
                45770264
            ],
            "pathogenic_repeats": 50,
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted"
        }
    ],
    "genes": [
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "London South GLH",
                "Expert Review Green",
                "",
                "Emory Genetics Laboratory",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "MGC39558"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:28596",
                "gene_name": "beta-1,3-N-acetylgalactosaminyltransferase 2",
                "omim_gene": [
                    "610194"
                ],
                "alias_name": null,
                "gene_symbol": "B3GALNT2",
                "hgnc_symbol": "B3GALNT2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:235613238-235667781",
                            "ensembl_id": "ENSG00000162885"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:235449923-235504481",
                            "ensembl_id": "ENSG00000162885"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-02-10"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies typeA 11",
                "congenital muscular dystrophies"
            ],
            "transcript": null,
            "entity_name": "B3GALNT2",
            "entity_type": "gene",
            "publications": [
                "23453667"
            ],
            "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": [
                    "iGNT",
                    "iGAT",
                    "iGnT",
                    "BETA3GNTI",
                    "B3GN-T1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:15685",
                "gene_name": "beta-1,4-glucuronyltransferase 1",
                "omim_gene": [
                    "605517"
                ],
                "alias_name": [
                    "N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase"
                ],
                "gene_symbol": "B4GAT1",
                "hgnc_symbol": "B4GAT1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:66112843-66115163",
                            "ensembl_id": "ENSG00000174684"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:66345372-66347692",
                            "ensembl_id": "ENSG00000174684"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2014-12-17"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), typeA, 13, 615287"
            ],
            "transcript": null,
            "entity_name": "B4GAT1",
            "entity_type": "gene",
            "publications": [
                "23877401",
                "23359570"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "London South GLH",
                "Expert Review Green",
                "",
                "Emory Genetics Laboratory",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
                "alias": [
                    "CHETK"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1938",
                "gene_name": "choline kinase beta",
                "omim_gene": [
                    "612395"
                ],
                "alias_name": null,
                "gene_symbol": "CHKB",
                "hgnc_symbol": "CHKB",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "22:51017378-51039884",
                            "ensembl_id": "ENSG00000100288"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "22:50578949-50601455",
                            "ensembl_id": "ENSG00000100288"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-04-19"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Congenital Muscular Dystrophy, CKHB-related",
                "Muscular dystrophy, congenital, megaconial type, 602541"
            ],
            "transcript": null,
            "entity_name": "CHKB",
            "entity_type": "gene",
            "publications": [
                "16371353, 21665002"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "London South GLH",
                "Expert Review Green",
                "Expert Review"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2188",
                "gene_name": "collagen type XII alpha 1 chain",
                "omim_gene": [
                    "120320"
                ],
                "alias_name": [
                    "collagen type XII proteoglycan"
                ],
                "gene_symbol": "COL12A1",
                "hgnc_symbol": "COL12A1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:75794042-75915767",
                            "ensembl_id": "ENSG00000111799"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:75084326-75206051",
                            "ensembl_id": "ENSG00000111799"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-03-24"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Ullrich congenital muscular dystrophy 2",
                "Bethlem myopathy 2"
            ],
            "transcript": null,
            "entity_name": "COL12A1",
            "entity_type": "gene",
            "publications": [
                "24334769",
                "24334604",
                "27348394"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and 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"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2211",
                "gene_name": "collagen type VI alpha 1 chain",
                "omim_gene": [
                    "120220"
                ],
                "alias_name": null,
                "gene_symbol": "COL6A1",
                "hgnc_symbol": "COL6A1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "21:47401651-47424964",
                            "ensembl_id": "ENSG00000142156"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "21:45981737-46005050",
                            "ensembl_id": "ENSG00000142156"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Bethlem myopathy, 158810",
                "Ullrich congenital muscular dystrophy, 254090"
            ],
            "transcript": null,
            "entity_name": "COL6A1",
            "entity_type": "gene",
            "publications": [
                "15955946",
                "23738969",
                "25535305"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and 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"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2212",
                "gene_name": "collagen type VI alpha 2 chain",
                "omim_gene": [
                    "120240"
                ],
                "alias_name": null,
                "gene_symbol": "COL6A2",
                "hgnc_symbol": "COL6A2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "21:47518011-47552763",
                            "ensembl_id": "ENSG00000142173"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "21:46098097-46132849",
                            "ensembl_id": "ENSG00000142173"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Bethlem myopathy, 158810",
                "Ullrich congenital muscular dystrophy, 254090"
            ],
            "transcript": null,
            "entity_name": "COL6A2",
            "entity_type": "gene",
            "publications": [
                "15689448"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and 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"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2213",
                "gene_name": "collagen type VI alpha 3 chain",
                "omim_gene": [
                    "120250"
                ],
                "alias_name": null,
                "gene_symbol": "COL6A3",
                "hgnc_symbol": "COL6A3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:238232646-238323018",
                            "ensembl_id": "ENSG00000163359"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:237324003-237414375",
                            "ensembl_id": "ENSG00000163359"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Bethlem myopathy, 158810",
                "Ullrich congenital muscular dystrophy, 254090"
            ],
            "transcript": null,
            "entity_name": "COL6A3",
            "entity_type": "gene",
            "publications": [
                "15689448"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "London South GLH",
                "Expert Review Green",
                "",
                "Emory Genetics Laboratory"
            ],
            "gene_data": {
                "alias": [
                    "A3a",
                    "156DAG",
                    "AGRNR",
                    "DAG"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2666",
                "gene_name": "dystroglycan 1",
                "omim_gene": [
                    "128239"
                ],
                "alias_name": [
                    "alpha-dystroglycan",
                    "dystrophin-associated glycoprotein-1",
                    "beta-dystroglycan"
                ],
                "gene_symbol": "DAG1",
                "hgnc_symbol": "DAG1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:49506146-49573048",
                            "ensembl_id": "ENSG00000173402"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:49468703-49535618",
                            "ensembl_id": "ENSG00000173402"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-07-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "congenital muscular dystrophies",
                "congenital muscular dystrophies, MDDGA9 (WWS), also hyperckaemia and MDDG C9",
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 616538",
                "Walker-Warburg syndrome"
            ],
            "transcript": null,
            "entity_name": "DAG1",
            "entity_type": "gene",
            "publications": [
                "26380289",
                "24052401",
                "25934851",
                "22810924"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "gene-therapy-trial"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Emory Genetics Laboratory",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "BMD",
                    "DXS142",
                    "DXS164",
                    "DXS206",
                    "DXS230",
                    "DXS239",
                    "DXS268",
                    "DXS269",
                    "DXS270",
                    "DXS272"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2928",
                "gene_name": "dystrophin",
                "omim_gene": [
                    "300377"
                ],
                "alias_name": [
                    "muscular dystrophy, Duchenne and Becker types"
                ],
                "gene_symbol": "DMD",
                "hgnc_symbol": "DMD",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:31115794-33357558",
                            "ensembl_id": "ENSG00000198947"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:31097677-33339441",
                            "ensembl_id": "ENSG00000198947"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Duchenne muscular dystrophy, 310200",
                "Becker muscular dystrophy, 300376"
            ],
            "transcript": null,
            "entity_name": "DMD",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "London South GLH",
                "Expert Review Green",
                "Expert Review"
            ],
            "gene_data": {
                "alias": [
                    "KIAA1094",
                    "DK1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:23406",
                "gene_name": "dolichol kinase",
                "omim_gene": [
                    "610746"
                ],
                "alias_name": [
                    "dolichol kinase 1"
                ],
                "gene_symbol": "DOLK",
                "hgnc_symbol": "DOLK",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:131707809-131709898",
                            "ensembl_id": "ENSG00000175283"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:128945530-128947619",
                            "ensembl_id": "ENSG00000175283"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-02-09"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Congenital disorder of glycosylation, type Im"
            ],
            "transcript": null,
            "entity_name": "DOLK",
            "entity_type": "gene",
            "publications": [
                "17273964",
                "22242004",
                "23890587"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "London South GLH",
                "Expert Review Green",
                "",
                "Emory Genetics Laboratory"
            ],
            "gene_data": {
                "alias": [
                    "MGC21559",
                    "MGC111193"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3006",
                "gene_name": "dolichyl-phosphate mannosyltransferase subunit 2, regulatory",
                "omim_gene": [
                    "603564"
                ],
                "alias_name": [
                    "DPM synthase complex subunit"
                ],
                "gene_symbol": "DPM2",
                "hgnc_symbol": "DPM2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:130697378-130700763",
                            "ensembl_id": "ENSG00000136908"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:127935099-127938484",
                            "ensembl_id": "ENSG00000136908"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-02-23"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "musclular dystrophy dystroglycanopathy syndrome with severe epilepsy",
                "Congenital disorder of glycosylation, type Iu 615042"
            ],
            "transcript": null,
            "entity_name": "DPM2",
            "entity_type": "gene",
            "publications": [
                "19901254",
                "23109149"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Expert Review"
            ],
            "gene_data": {
                "alias": [
                    "SLIM1",
                    "KYO-T",
                    "bA535K18.1",
                    "FHL1B",
                    "XMPMA",
                    "FLH1A",
                    "MGC111107"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3702",
                "gene_name": "four and a half LIM domains 1",
                "omim_gene": [
                    "300163"
                ],
                "alias_name": [
                    "Four-and-a-half LIM domains 1",
                    "LIM protein SLIMMER"
                ],
                "gene_symbol": "FHL1",
                "hgnc_symbol": "FHL1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:135229559-135293518",
                            "ensembl_id": "ENSG00000022267"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:136146702-136211359",
                            "ensembl_id": "ENSG00000022267"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-08-28"
            },
            "penetrance": null,
            "phenotypes": [
                "Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717",
                "Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718"
            ],
            "transcript": null,
            "entity_name": "FHL1",
            "entity_type": "gene",
            "publications": [],
            "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": null
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "London South GLH",
                "Expert Review Green",
                "",
                "UKGTN",
                "Emory Genetics Laboratory",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "LGMD2I",
                    "MDC1C"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17997",
                "gene_name": "fukutin related protein",
                "omim_gene": [
                    "606596"
                ],
                "alias_name": null,
                "gene_symbol": "FKRP",
                "hgnc_symbol": "FKRP",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:47249303-47280245",
                            "ensembl_id": "ENSG00000181027"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:46746046-46776988",
                            "ensembl_id": "ENSG00000181027"
                        }
                    }
                },
                "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": [
                    "LGMD2M"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3622",
                "gene_name": "fukutin",
                "omim_gene": [
                    "607440"
                ],
                "alias_name": null,
                "gene_symbol": "FKTN",
                "hgnc_symbol": "FKTN",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:108320411-108403399",
                            "ensembl_id": "ENSG00000106692"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:105558130-105641118",
                            "ensembl_id": "ENSG00000106692"
                        }
                    }
                },
                "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"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:49716844-49723951",
                            "ensembl_id": "ENSG00000173540"
                        }
                    }
                },
                "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"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:1494571-1516888",
                            "ensembl_id": "ENSG00000132376"
                        }
                    }
                },
                "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"
                        }
                    }
                },
                "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"
            ],
            "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"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:55684568-55716043",
                            "ensembl_id": "ENSG00000135424"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-02-27"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Congenital Muscular Dystrophy, ITGA7-related",
                "Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204"
            ],
            "transcript": null,
            "entity_name": "ITGA7",
            "entity_type": "gene",
            "publications": [
                "9590299",
                "18045857",
                "26076707"
            ],
            "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": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6482",
                "gene_name": "laminin subunit alpha 2",
                "omim_gene": [
                    "156225"
                ],
                "alias_name": [
                    "merosin",
                    "congenital muscular dystrophy"
                ],
                "gene_symbol": "LAMA2",
                "hgnc_symbol": "LAMA2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:129204342-129837714",
                            "ensembl_id": "ENSG00000196569"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:128883141-129516569",
                            "ensembl_id": "ENSG00000196569"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-05-06"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Congenital Muscular Dystrophy, LAMA2-related",
                "Muscular dystrophy, congenital merosin-deficient, 607855",
                "Muscular dystrophy, congenital, due to partial LAMA2 deficiency 607855"
            ],
            "transcript": null,
            "entity_name": "LAMA2",
            "entity_type": "gene",
            "publications": [
                "12552556",
                "7550355"
            ],
            "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": {
                "alias": [
                    "KIAA0609"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6511",
                "gene_name": "LARGE xylosyl- and glucuronyltransferase 1",
                "omim_gene": [
                    "603590"
                ],
                "alias_name": [
                    "like-acetylglucosaminyltransferase"
                ],
                "gene_symbol": "LARGE1",
                "hgnc_symbol": "LARGE1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "22:33558212-34318829",
                            "ensembl_id": "ENSG00000133424"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "22:33162226-33922841",
                            "ensembl_id": "ENSG00000133424"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2016-05-31"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Congenital Muscular Dystrophy, alpha-dystroglycan related",
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154",
                "Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 \t608840"
            ],
            "transcript": null,
            "entity_name": "LARGE1",
            "entity_type": "gene",
            "publications": [
                "12966029"
            ],
            "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"
            ],
            "gene_data": {
                "alias": [
                    "HGPS",
                    "MADA"
                ],
                "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": {
                        "82": {
                            "location": "1:156052364-156109880",
                            "ensembl_id": "ENSG00000160789"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:156082573-156140089",
                            "ensembl_id": "ENSG00000160789"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-04-09"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Congenital Muscular Dystrophy, LMNA-related (Dominant)",
                "Emery-Dreifuss muscular dystrophy 2, AD, 181350"
            ],
            "transcript": null,
            "entity_name": "LMNA",
            "entity_type": "gene",
            "publications": [
                "15622532",
                "18551513",
                "15148145"
            ],
            "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"
            ],
            "gene_data": {
                "alias": [
                    "CALC",
                    "EFHA3",
                    "FLJ12684"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1530",
                "gene_name": "mitochondrial calcium uptake 1",
                "omim_gene": [
                    "605084"
                ],
                "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"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:72367327-72626191",
                            "ensembl_id": "ENSG00000107745"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2011-06-23"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Myopathy with extrapyramidal signs, 615673"
            ],
            "transcript": null,
            "entity_name": "MICU1",
            "entity_type": "gene",
            "publications": [
                "24336167"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "NHS GMS",
                "London South GLH"
            ],
            "gene_data": {
                "alias": [
                    "FLJ10504",
                    "LST005",
                    "MST",
                    "misato"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29678",
                "gene_name": "misato 1, mitochondrial distribution and morphology regulator",
                "omim_gene": [
                    "617619"
                ],
                "alias_name": null,
                "gene_symbol": "MSTO1",
                "hgnc_symbol": "MSTO1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:155579979-155718153",
                            "ensembl_id": "ENSG00000125459"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:155610205-155614967",
                            "ensembl_id": "ENSG00000125459"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-07-19"
            },
            "penetrance": null,
            "phenotypes": [
                "Congenital muscular dystrophy with Brain involvment",
                "Myopathy, mitochondrial, and ataxia, 617675"
            ],
            "transcript": null,
            "entity_name": "MSTO1",
            "entity_type": "gene",
            "publications": [
                "28544275",
                "28554942",
                "31130378",
                "29339779"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "TMEM226"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:33778",
                "gene_name": "myomaker, myoblast fusion factor",
                "omim_gene": [
                    "615345"
                ],
                "alias_name": [
                    "transmembrane protein 226"
                ],
                "gene_symbol": "MYMK",
                "hgnc_symbol": "MYMK",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:136379708-136393734",
                            "ensembl_id": "ENSG00000187616"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:133514586-133528612",
                            "ensembl_id": "ENSG00000187616"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2017-05-11"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Carey-Fineman-Ziter syndrome, 254940"
            ],
            "transcript": null,
            "entity_name": "MYMK",
            "entity_type": "gene",
            "publications": [
                "28681861"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "NHS GMS",
                "London South GLH",
                "",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "PCN",
                    "PLTN"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9069",
                "gene_name": "plectin",
                "omim_gene": [
                    "601282"
                ],
                "alias_name": null,
                "gene_symbol": "PLEC",
                "hgnc_symbol": "PLEC",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:144989321-145050902",
                            "ensembl_id": "ENSG00000178209"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "8:143915147-143976734",
                            "ensembl_id": "ENSG00000178209"
                        }
                    }
                },
                "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"
            ],
            "transcript": null,
            "entity_name": "PLEC",
            "entity_type": "gene",
            "publications": [
                "21109228",
                "20624679",
                "28447722"
            ],
            "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": {
                "alias": [
                    "FLJ20277",
                    "MGAT1.2",
                    "LGMD2O"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:19139",
                "gene_name": "protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)",
                "omim_gene": [
                    "606822"
                ],
                "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": {
                    "GRch37": {
                        "82": {
                            "location": "1:46654354-46685977",
                            "ensembl_id": "ENSG00000085998"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:46188682-46220305",
                            "ensembl_id": "ENSG00000085998"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-06-02"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3  253280",
                "Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3  613151",
                "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3  613157"
            ],
            "transcript": null,
            "entity_name": "POMGNT1",
            "entity_type": "gene",
            "publications": [
                "11709191",
                "12588800"
            ],
            "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"
            ],
            "gene_data": {
                "alias": [
                    "FLJ14566",
                    "AGO61"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25902",
                "gene_name": "protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)",
                "omim_gene": [
                    "614828"
                ],
                "alias_name": null,
                "gene_symbol": "POMGNT2",
                "hgnc_symbol": "POMGNT2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:43120724-43147568",
                            "ensembl_id": "ENSG00000144647"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:43079232-43106076",
                            "ensembl_id": "ENSG00000144647"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2013-08-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies type",
                "Walker-Warburg syndrome"
            ],
            "transcript": null,
            "entity_name": "POMGNT2",
            "entity_type": "gene",
            "publications": [
                "22958903",
                "27066570"
            ],
            "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": [
                    "FLJ23356",
                    "SgK196"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26267",
                "gene_name": "protein-O-mannose kinase",
                "omim_gene": [
                    "615247"
                ],
                "alias_name": null,
                "gene_symbol": "POMK",
                "hgnc_symbol": "POMK",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:42948658-42978577",
                            "ensembl_id": "ENSG00000185900"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "8:43093506-43123434",
                            "ensembl_id": "ENSG00000185900"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2013-08-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12"
            ],
            "transcript": null,
            "entity_name": "POMK",
            "entity_type": "gene",
            "publications": [
                "23519211",
                "24556084"
            ],
            "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"
            ],
            "gene_data": {
                "alias": [
                    "LGMD2K"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9202",
                "gene_name": "protein O-mannosyltransferase 1",
                "omim_gene": [
                    "607423"
                ],
                "alias_name": [
                    "dolichyl-phosphate-mannose-protein mannosyltransferase"
                ],
                "gene_symbol": "POMT1",
                "hgnc_symbol": "POMT1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:134378289-134399193",
                            "ensembl_id": "ENSG00000130714"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:131502902-131523806",
                            "ensembl_id": "ENSG00000130714"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-06-25"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type"
            ],
            "transcript": null,
            "entity_name": "POMT1",
            "entity_type": "gene",
            "publications": [
                "12369018"
            ],
            "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"
            ],
            "gene_data": {
                "alias": [
                    "LGMD2N"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:19743",
                "gene_name": "protein O-mannosyltransferase 2",
                "omim_gene": [
                    "607439"
                ],
                "alias_name": [
                    "Dolichyl-phosphate-mannose--protein mannosyltransferase"
                ],
                "gene_symbol": "POMT2",
                "hgnc_symbol": "POMT2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:77741299-77787227",
                            "ensembl_id": "ENSG00000009830"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "14:77274956-77320884",
                            "ensembl_id": "ENSG00000009830"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-01-17"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 \t613150",
                "Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 \t613156",
                "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 \t613158"
            ],
            "transcript": null,
            "entity_name": "POMT2",
            "entity_type": "gene",
            "publications": [
                "15894594",
                "17559086"
            ],
            "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"
            ],
            "gene_data": {
                "alias": [
                    "SELN",
                    "RSS"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:15999",
                "gene_name": "selenoprotein N",
                "omim_gene": [
                    "606210"
                ],
                "alias_name": null,
                "gene_symbol": "SELENON",
                "hgnc_symbol": "SELENON",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:26126667-26144713",
                            "ensembl_id": "ENSG00000162430"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:25800176-25818224",
                            "ensembl_id": "ENSG00000162430"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2016-09-21"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Muscular dystrophy, rigid spine, 1, 602771"
            ],
            "transcript": null,
            "entity_name": "SELENON",
            "entity_type": "gene",
            "publications": [
                "23217329"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "NHS GMS",
                "London South GLH"
            ],
            "gene_data": {
                "alias": [
                    "BAP",
                    "ULG5"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:24624",
                "gene_name": "SIL1 nucleotide exchange factor",
                "omim_gene": [
                    "608005"
                ],
                "alias_name": null,
                "gene_symbol": "SIL1",
                "hgnc_symbol": "SIL1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:138282409-138629246",
                            "ensembl_id": "ENSG00000120725"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:138946720-139293557",
                            "ensembl_id": "ENSG00000120725"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-09-01"
            },
            "penetrance": null,
            "phenotypes": [
                "Marinesco-Sjogren syndrome, 248800"
            ],
            "transcript": null,
            "entity_name": "SIL1",
            "entity_type": "gene",
            "publications": [
                "11528383"
            ],
            "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",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
                "alias": [
                    "SYNE-1B",
                    "KIAA0796",
                    "8B",
                    "Nesprin-1",
                    "enaptin",
                    "MYNE1",
                    "CPG2",
                    "dJ45H2.2",
                    "SCAR8",
                    "ARCA1",
                    "Nesp1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17089",
                "gene_name": "spectrin repeat containing nuclear envelope protein 1",
                "omim_gene": [
                    "608441"
                ],
                "alias_name": [
                    "myocyte nuclear envelope protein 1",
                    "nuclear envelope spectrin repeat-1"
                ],
                "gene_symbol": "SYNE1",
                "hgnc_symbol": "SYNE1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:152442819-152958936",
                            "ensembl_id": "ENSG00000131018"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:152121684-152637801",
                            "ensembl_id": "ENSG00000131018"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-02-19"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Emery-Dreifuss muscular dystrophy 4, autosomal dominant \t612998",
                "complex phenotypic spectrum ranging from Emery-Dreifuss muscular dystrophy to ataxia (SCA8)"
            ],
            "transcript": null,
            "entity_name": "SYNE1",
            "entity_type": "gene",
            "publications": [
                "27782104",
                "19542096"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and 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"
            ],
            "gene_data": {
                "alias": [
                    "HP10481"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13530",
                "gene_name": "transmembrane protein 5",
                "omim_gene": [
                    "605862"
                ],
                "alias_name": null,
                "gene_symbol": "TMEM5",
                "hgnc_symbol": "TMEM5",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:64173583-64203338",
                            "ensembl_id": "ENSG00000118600"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:63779803-63809558",
                            "ensembl_id": "ENSG00000118600"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-09-20"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type"
            ],
            "transcript": null,
            "entity_name": "TMEM5",
            "entity_type": "gene",
            "publications": [
                "16282978"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "NHS GMS",
                "London South GLH",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "FLJ12716",
                    "gry",
                    "foigr"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25751",
                "gene_name": "trafficking protein particle complex 11",
                "omim_gene": [
                    "614138"
                ],
                "alias_name": [
                    "gryzun homolog (Drosophila)",
                    "foie gras homolog (zebrafish)"
                ],
                "gene_symbol": "TRAPPC11",
                "hgnc_symbol": "TRAPPC11",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:184580420-184634745",
                            "ensembl_id": "ENSG00000168538"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:183659267-183713594",
                            "ensembl_id": "ENSG00000168538"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2011-12-12"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "congenital muscular dystrophy (CMD), progressive fatty liver and infantile-onset cataract",
                "infantile-onset muscle weakness",
                "Muscular dystrophy, limb-girdle, autosomal recessive 18, 615356"
            ],
            "transcript": null,
            "entity_name": "TRAPPC11",
            "entity_type": "gene",
            "publications": [
                "26322222",
                "29855340"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "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"
                ],
                "gene_symbol": "ACTA1",
                "hgnc_symbol": "ACTA1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:229566992-229569845",
                            "ensembl_id": "ENSG00000143632"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:229431245-229434098",
                            "ensembl_id": "ENSG00000143632"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "CMD with rigid spine",
                "Nemaline myopathy 3, autosomal dominant or recessive 161800",
                "Myopathy, congenital, with fiber-type disproportion 1 255310"
            ],
            "transcript": null,
            "entity_name": "ACTA1",
            "entity_type": "gene",
            "publications": [
                "24642510",
                "25182138 - report of two brothers with congenital muscular dystrophy with rigid spine homozygous for a missense variant (parents were heterozygous, unaffected siblings were either heterozygous or homozygous for the wildtype allele)",
                "25913210",
                "26436962",
                "20179953"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "London South GLH",
                "Expert Review Amber",
                "Expert Review"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2202",
                "gene_name": "collagen type IV alpha 1 chain",
                "omim_gene": [
                    "120130"
                ],
                "alias_name": null,
                "gene_symbol": "COL4A1",
                "hgnc_symbol": "COL4A1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "13:110801318-110959496",
                            "ensembl_id": "ENSG00000187498"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "13:110148963-110307149",
                            "ensembl_id": "ENSG00000187498"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "walker warburg syndrome, muscle eye brain disease",
                "Brain small vessel disease with or without ocular anomalies, 175780"
            ],
            "transcript": null,
            "entity_name": "COL4A1",
            "entity_type": "gene",
            "publications": [
                "28056338",
                "22037604",
                "21625620"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "London South GLH",
                "Expert Review Amber",
                "",
                "Emory Genetics Laboratory"
            ],
            "gene_data": {
                "alias": [
                    "MPDS",
                    "CDGIE"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3005",
                "gene_name": "dolichyl-phosphate mannosyltransferase subunit 1, catalytic",
                "omim_gene": [
                    "603503"
                ],
                "alias_name": [
                    "DPM synthase complex, catalytic subunit"
                ],
                "gene_symbol": "DPM1",
                "hgnc_symbol": "DPM1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "20:49551404-49575092",
                            "ensembl_id": "ENSG00000000419"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "20:50934867-50958555",
                            "ensembl_id": "ENSG00000000419"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-02-23"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "congenital muscular dystrophies",
                "Congenital disorder of glycosylation, type Ie \t608799"
            ],
            "transcript": null,
            "entity_name": "DPM1",
            "entity_type": "gene",
            "publications": [
                "23109149",
                "23856421"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "London South GLH",
                "Expert Review Amber",
                "",
                "Emory Genetics Laboratory"
            ],
            "gene_data": {
                "alias": [
                    "MGC34275",
                    "MGC125904",
                    "MGC125905"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3007",
                "gene_name": "dolichyl-phosphate mannosyltransferase subunit 3",
                "omim_gene": [
                    "605951"
                ],
                "alias_name": [
                    "DPM synthase complex subunit"
                ],
                "gene_symbol": "DPM3",
                "hgnc_symbol": "DPM3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:155112367-155113071",
                            "ensembl_id": "ENSG00000179085"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:155139891-155140595",
                            "ensembl_id": "ENSG00000179085"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-06-29"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "congenital muscular dystrophies",
                "Congenital disorder of glycosylation, type Io, 612937'Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937"
            ],
            "transcript": null,
            "entity_name": "DPM3",
            "entity_type": "gene",
            "publications": [
                "19576565"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "FER1L1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3097",
                "gene_name": "dysferlin",
                "omim_gene": [
                    "603009"
                ],
                "alias_name": [
                    "fer-1-like family member 1"
                ],
                "gene_symbol": "DYSF",
                "hgnc_symbol": "DYSF",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:71680852-71913898",
                            "ensembl_id": "ENSG00000135636"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:71453722-71686768",
                            "ensembl_id": "ENSG00000135636"
                        }
                    }
                },
                "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,
            "entity_name": "DYSF",
            "entity_type": "gene",
            "publications": [
                "25821721"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "NHS GMS",
                "London South GLH"
            ],
            "gene_data": {
                "alias": [
                    "GM130",
                    "golgin-95"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4425",
                "gene_name": "golgin A2",
                "omim_gene": [
                    "602580"
                ],
                "alias_name": [
                    "Golgi matrix protein GM130",
                    "SY11 protein"
                ],
                "gene_symbol": "GOLGA2",
                "hgnc_symbol": "GOLGA2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:131018108-131038274",
                            "ensembl_id": "ENSG00000167110"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:128255829-128275995",
                            "ensembl_id": "ENSG00000167110"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-11-05"
            },
            "penetrance": null,
            "phenotypes": [
                "Secondary dystroglycanopathy"
            ],
            "transcript": null,
            "entity_name": "GOLGA2",
            "entity_type": "gene",
            "publications": [
                "26742501",
                "30237576"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "watchlist"
            ],
            "evidence": [
                "Expert Review Amber",
                "NHS GMS",
                "London South GLH"
            ],
            "gene_data": {
                "alias": [
                    "MDS010",
                    "MGC32995",
                    "9630046K23Rik",
                    "MDSRP",
                    "hCLP46",
                    "KDELCL1",
                    "Rumi"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:22954",
                "gene_name": "protein O-glucosyltransferase 1",
                "omim_gene": [
                    "615618"
                ],
                "alias_name": [
                    "KDELC family like 1"
                ],
                "gene_symbol": "POGLUT1",
                "hgnc_symbol": "POGLUT1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:119187785-119213555",
                            "ensembl_id": "ENSG00000163389"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:119468938-119494708",
                            "ensembl_id": "ENSG00000163389"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2010-09-29"
            },
            "penetrance": null,
            "phenotypes": [
                "?Muscular dystrophy, limb-girdle, autosomal recessive 21, 617232"
            ],
            "transcript": null,
            "entity_name": "POGLUT1",
            "entity_type": "gene",
            "publications": [
                "27807076"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "",
                "Emory Genetics Laboratory"
            ],
            "gene_data": {
                "alias": [
                    "T-cap",
                    "TELE",
                    "telethonin",
                    "CMD1N"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11610",
                "gene_name": "titin-cap",
                "omim_gene": [
                    "604488"
                ],
                "alias_name": [
                    "19 kDa sarcomeric protein",
                    "teneurin C-terminal associated peptide"
                ],
                "gene_symbol": "TCAP",
                "hgnc_symbol": "TCAP",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:37820440-37822808",
                            "ensembl_id": "ENSG00000173991"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:39664187-39666555",
                            "ensembl_id": "ENSG00000173991"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-02-16"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Congenital muscular dystrophies"
            ],
            "transcript": null,
            "entity_name": "TCAP",
            "entity_type": "gene",
            "publications": [
                "23479141",
                "21530252"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "GDD1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:27337",
                "gene_name": "anoctamin 5",
                "omim_gene": [
                    "608662"
                ],
                "alias_name": null,
                "gene_symbol": "ANO5",
                "hgnc_symbol": "ANO5",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:22214722-22304903",
                            "ensembl_id": "ENSG00000171714"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:22193176-22283357",
                            "ensembl_id": "ENSG00000171714"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2008-08-28"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Gnathodiaphyseal dysplasia, 166260",
                "Muscular dystrophy, limb-girdle, type 2L, 611307Miyoshi muscular dystrophy 3, 613319",
                "Limb-Girdle Muscular Dystrophy, Recessive"
            ],
            "transcript": null,
            "entity_name": "ANO5",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "London South GLH"
            ],
            "gene_data": {
                "alias": [
                    "hbet1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14562",
                "gene_name": "Bet1 golgi vesicular membrane trafficking protein",
                "omim_gene": [
                    "605456"
                ],
                "alias_name": [
                    "Golgi vesicular membrane trafficking protein p18",
                    "Bet1p homolog"
                ],
                "gene_symbol": "BET1",
                "hgnc_symbol": "BET1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:93592074-93633694",
                            "ensembl_id": "ENSG00000105829"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:93962762-94004382",
                            "ensembl_id": "ENSG00000105829"
                        }
                    }
                },
                "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": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "London South GLH",
                "Expert Review Red",
                "Expert Review"
            ],
            "gene_data": {
                "alias": [
                    "FLJ22259",
                    "DKFZp686I14213"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2203",
                "gene_name": "collagen type IV alpha 2 chain",
                "omim_gene": [
                    "120090"
                ],
                "alias_name": [
                    "canstatin",
                    "collagen type IV alpha 2"
                ],
                "gene_symbol": "COL4A2",
                "hgnc_symbol": "COL4A2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "13:110958159-111165374",
                            "ensembl_id": "ENSG00000134871"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "13:110305812-110513027",
                            "ensembl_id": "ENSG00000134871"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": "Complete",
            "phenotypes": [],
            "transcript": null,
            "entity_name": "COL4A2",
            "entity_type": "gene",
            "publications": [
                "22037604"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "treatable",
                "cnv",
                "currently-ngs-unreportable"
            ],
            "evidence": [
                "",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [],
                "biotype": null,
                "hgnc_id": "HGNC:50800",
                "gene_name": "double homeobox 4",
                "omim_gene": [
                    "606009"
                ],
                "alias_name": null,
                "gene_symbol": "DUX4",
                "hgnc_symbol": "DUX4",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:191005267-191007077",
                            "ensembl_id": "ENSG00000258389"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:190173774-190185942",
                            "ensembl_id": "ENSG00000260596"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2014-06-20"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Facioscapulohumeral Muscular Dystrophy 1A"
            ],
            "transcript": null,
            "entity_name": "DUX4",
            "entity_type": "gene",
            "publications": [
                "28040729",
                "27922500",
                "27816329",
                "27841748",
                "27672539"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": "Other - please provide details in the comments"
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "",
                "Emory Genetics Laboratory",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "STA",
                    "LEMD5"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3331",
                "gene_name": "emerin",
                "omim_gene": [
                    "300384"
                ],
                "alias_name": [
                    "LEM domain containing 5"
                ],
                "gene_symbol": "EMD",
                "hgnc_symbol": "EMD",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:153607557-153609883",
                            "ensembl_id": "ENSG00000102119"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:154379197-154381523",
                            "ensembl_id": "ENSG00000102119"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Emery-Dreifuss muscular dystrophy 1, X-linked, 310300"
            ],
            "transcript": null,
            "entity_name": "EMD",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "London South GLH"
            ],
            "gene_data": {
                "alias": [
                    "GS27",
                    "Bos1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4431",
                "gene_name": "golgi SNAP receptor complex member 2",
                "omim_gene": [
                    "604027"
                ],
                "alias_name": null,
                "gene_symbol": "GOSR2",
                "hgnc_symbol": "GOSR2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:45000483-45105003",
                            "ensembl_id": "ENSG00000108433"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:46923075-46975524",
                            "ensembl_id": "ENSG00000108433"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-04-23"
            },
            "penetrance": null,
            "phenotypes": [
                "Congenital muscular dystrophy with hypoglycosylation of alpha-dystroglycan"
            ],
            "transcript": null,
            "entity_name": "GOSR2",
            "entity_type": "gene",
            "publications": [
                "29855340"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "nucleotide-repeat-expansion"
            ],
            "evidence": [
                "Expert Review Red",
                "",
                "Emory Genetics Laboratory",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "PAB2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8565",
                "gene_name": "poly(A) binding protein nuclear 1",
                "omim_gene": [
                    "602279"
                ],
                "alias_name": null,
                "gene_symbol": "PABPN1",
                "hgnc_symbol": "PABPN1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:23790498-23795394",
                            "ensembl_id": "ENSG00000100836"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "14:23321289-23326185",
                            "ensembl_id": "ENSG00000100836"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-05-01"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Oculopharyngeal muscular dystrophy, 164300",
                "Oculopharyngeal muscular dystrophy"
            ],
            "transcript": null,
            "entity_name": "PABPN1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "",
                "Emory Genetics Laboratory"
            ],
            "gene_data": {
                "alias": [
                    "RYR",
                    "PPP1R137"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10483",
                "gene_name": "ryanodine receptor 1",
                "omim_gene": [
                    "180901"
                ],
                "alias_name": [
                    "protein phosphatase 1, regulatory subunit 137"
                ],
                "gene_symbol": "RYR1",
                "hgnc_symbol": "RYR1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:38924339-39078204",
                            "ensembl_id": "ENSG00000196218"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:38433699-38587564",
                            "ensembl_id": "ENSG00000196218"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1989-12-01"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "congenital muscular dystrophies",
                "Central core disease",
                "Minicore myopathy with external ophthalmoplegia",
                "Neuromuscular disease, congenital, with uniform type 1 fiber"
            ],
            "transcript": null,
            "entity_name": "RYR1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "KIAA0650",
                    "FSHD2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29090",
                "gene_name": "structural maintenance of chromosomes flexible hinge domain containing 1",
                "omim_gene": [
                    "614982"
                ],
                "alias_name": null,
                "gene_symbol": "SMCHD1",
                "hgnc_symbol": "SMCHD1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "18:2655737-2805015",
                            "ensembl_id": "ENSG00000101596"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "18:2655738-2805017",
                            "ensembl_id": "ENSG00000101596"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-03-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Fascioscapulohumeral muscular dystrophy 2, digenic, 158901"
            ],
            "transcript": null,
            "entity_name": "SMCHD1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
                "alias": [
                    "SYNE-2",
                    "DKFZP434H2235",
                    "Nesprin-2",
                    "NUANCE",
                    "NUA",
                    "KIAA1011",
                    "Nesp2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17084",
                "gene_name": "spectrin repeat containing nuclear envelope protein 2",
                "omim_gene": [
                    "608442"
                ],
                "alias_name": [
                    "nuclear envelope spectrin repeat-2",
                    "nucleus and actin connecting element"
                ],
                "gene_symbol": "SYNE2",
                "hgnc_symbol": "SYNE2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:64319683-64693165",
                            "ensembl_id": "ENSG00000054654"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "14:63852983-64226433",
                            "ensembl_id": "ENSG00000054654"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-02-19"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Emery-Dreifuss Muscular Dystrophy",
                "Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999"
            ],
            "transcript": null,
            "entity_name": "SYNE2",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "MGC3222",
                    "DKFZp586G1919",
                    "LUMA"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:28472",
                "gene_name": "transmembrane protein 43",
                "omim_gene": [
                    "612048"
                ],
                "alias_name": null,
                "gene_symbol": "TMEM43",
                "hgnc_symbol": "TMEM43",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:14166440-14185179",
                            "ensembl_id": "ENSG00000170876"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:14124940-14143679",
                            "ensembl_id": "ENSG00000170876"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-01-24"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Emery-Dreifuss muscular dystrophy 7, AD 614302"
            ],
            "transcript": null,
            "entity_name": "TMEM43",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        }
    ],
    "stats": {
        "number_of_strs": 1,
        "number_of_genes": 54,
        "number_of_regions": 0
    },
    "types": [
        {
            "name": "Rare Disease 100K",
            "slug": "rare-disease-100k",
            "description": "Rare Disease 100K"
        },
        {
            "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"
}