Search Entities

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            "gene_data": {
                "alias": [
                    "PEG11",
                    "MART1",
                    "Mar1",
                    "SIRH2",
                    "HUR1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14665",
                "gene_name": "retrotransposon Gag like 1",
                "omim_gene": [
                    "611896"
                ],
                "alias_name": [
                    "Sushi-Ichi retrotransposon homolog 2",
                    "mammalian retrotransposon-derived 1",
                    "paternally expressed 11"
                ],
                "gene_symbol": "RTL1",
                "hgnc_symbol": "RTL1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:101346992-101351184",
                            "ensembl_id": "ENSG00000254656"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "14:100880655-100884847",
                            "ensembl_id": "ENSG00000254656"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-02-27"
            },
            "entity_type": "gene",
            "entity_name": "RTL1",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "30794780",
                "http://igc.otago.ac.nz/home.html"
            ],
            "evidence": [
                "Literature"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)",
            "tags": [],
            "panel": {
                "id": 227,
                "hash_id": "590b12638f6203169828a560",
                "name": "Genomic imprinting",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "0.93",
                "version_created": "2021-02-23T16:52:27.499077Z",
                "relevant_disorders": [],
                "stats": {
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                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Research",
                        "slug": "research",
                        "description": "This is a gene panel used for research."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "vtRNA2",
                    "hvg-5",
                    "CBL-3",
                    "hsa-mir-886",
                    "nc886"
                ],
                "biotype": "vaultRNA",
                "hgnc_id": "HGNC:37054",
                "gene_name": "vault RNA 2-1",
                "omim_gene": [
                    "614938"
                ],
                "alias_name": null,
                "gene_symbol": "VTRNA2-1",
                "hgnc_symbol": "VTRNA2-1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:135416160-135416286",
                            "ensembl_id": "ENSG00000270123"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:136080471-136080597",
                            "ensembl_id": "ENSG00000270123"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2011-04-11"
            },
            "entity_type": "gene",
            "entity_name": "VTRNA2-1",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "21998631"
            ],
            "evidence": [
                "Literature"
            ],
            "phenotypes": [
                "familial papillary thyroid cancers"
            ],
            "mode_of_inheritance": "Unknown",
            "tags": [
                "locus-type-rna-vault"
            ],
            "panel": {
                "id": 171,
                "hash_id": "576cd7ca8f6203609632be82",
                "name": "Inherited non-medullary thyroid cancer",
                "disease_group": "Tumour syndromes",
                "disease_sub_group": "Breast and endocrine",
                "status": "public",
                "version": "1.5",
                "version_created": "2020-12-02T12:42:07.841648Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 30,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "U5-15kD",
                    "DIM1",
                    "HsT161",
                    "DIB1",
                    "SNRNP15"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:30551",
                "gene_name": "thioredoxin like 4A",
                "omim_gene": [
                    "611595"
                ],
                "alias_name": [
                    "similar to S. pombe dim1+"
                ],
                "gene_symbol": "TXNL4A",
                "hgnc_symbol": "TXNL4A",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "18:77732867-77793949",
                            "ensembl_id": "ENSG00000141759"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "18:79970811-80033949",
                            "ensembl_id": "ENSG00000141759"
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                    }
                },
                "hgnc_date_symbol_changed": "2004-08-12"
            },
            "entity_type": "gene",
            "entity_name": "TXNL4A",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "Other - please provide details in the comments",
            "publications": [
                "25434003"
            ],
            "evidence": [
                "Expert Review Green",
                "Research"
            ],
            "phenotypes": [
                "Burn-McKeown syndrome\t608572"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 221,
                "hash_id": "553f9697bb5a1616e5ed45d3",
                "name": "Choanal atresia",
                "disease_group": "Skeletal disorders",
                "disease_sub_group": "Choanal anomalies",
                "status": "public",
                "version": "1.15",
                "version_created": "2020-10-07T17:36:55.330069Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 14,
                    "number_of_strs": 0,
                    "number_of_regions": 0
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                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "KIAA2005",
                    "FLJ39885"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1349",
                "gene_name": "sterile alpha motif domain containing 9 like",
                "omim_gene": [
                    "611170"
                ],
                "alias_name": null,
                "gene_symbol": "SAMD9L",
                "hgnc_symbol": "SAMD9L",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:92759368-92777682",
                            "ensembl_id": "ENSG00000177409"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:93130055-93148369",
                            "ensembl_id": "ENSG00000177409"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-04-26"
            },
            "entity_type": "gene",
            "entity_name": "SAMD9L",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "32086639",
                "32048120",
                "28202457"
            ],
            "evidence": [
                "Expert Review Green",
                "IUIS Classification February 2018",
                "IUIS Classification December 2019",
                "London North GLH",
                "NHS GMS",
                "North West GLH",
                "IUIS Classification December 2019",
                "North West GLH",
                "London North GLH",
                "NHS GMS",
                "IUIS Classification February 2018"
            ],
            "phenotypes": [
                "Cytopenia, predisposition to MDS with chromosome 7 aberrations, immunodeficiency, and progressive cerebellar dysfunction",
                "MDS, neurological features",
                "Combined immunodeficiencies with associated or syndromic features",
                "Bone marrow failure"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 111,
                "hash_id": "58c7fd7f8f6203413360f1b6",
                "name": "COVID-19 research",
                "disease_group": "Viral research",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.76",
                "version_created": "2021-02-11T13:39:47.299899Z",
                "relevant_disorders": [
                    "Viral susceptibility"
                ],
                "stats": {
                    "number_of_genes": 691,
                    "number_of_strs": 0,
                    "number_of_regions": 2
                },
                "types": [
                    {
                        "name": "Research",
                        "slug": "research",
                        "description": "This is a gene panel used for research."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CD124"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6015",
                "gene_name": "interleukin 4 receptor",
                "omim_gene": [
                    "147781"
                ],
                "alias_name": [
                    "interleukin 13 receptor"
                ],
                "gene_symbol": "IL4R",
                "hgnc_symbol": "IL4R",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:27324989-27376099",
                            "ensembl_id": "ENSG00000077238"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:27313668-27364778",
                            "ensembl_id": "ENSG00000077238"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1990-07-06"
            },
            "entity_type": "gene",
            "entity_name": "IL4R",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "16189667",
                "30228077",
                "29287219",
                "31141539"
            ],
            "evidence": [
                "OMIM"
            ],
            "phenotypes": [
                "{AIDS, slow progression to} 609423"
            ],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 111,
                "hash_id": "58c7fd7f8f6203413360f1b6",
                "name": "COVID-19 research",
                "disease_group": "Viral research",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.76",
                "version_created": "2021-02-11T13:39:47.299899Z",
                "relevant_disorders": [
                    "Viral susceptibility"
                ],
                "stats": {
                    "number_of_genes": 691,
                    "number_of_strs": 0,
                    "number_of_regions": 2
                },
                "types": [
                    {
                        "name": "Research",
                        "slug": "research",
                        "description": "This is a gene panel used for research."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7218",
                "gene_name": "myeloperoxidase",
                "omim_gene": [
                    "606989"
                ],
                "alias_name": null,
                "gene_symbol": "MPO",
                "hgnc_symbol": "MPO",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:56347217-56358296",
                            "ensembl_id": "ENSG00000005381"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:58269856-58280935",
                            "ensembl_id": "ENSG00000005381"
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                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "MPO",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "9354683",
                "15108282",
                "9637725",
                "32082301",
                "27574522",
                "21703402",
                "29325098",
                "29769163",
                "24968347",
                "32227102"
            ],
            "evidence": [
                "Expert Review Green",
                "GRID V2.0",
                "ESID Registry 20171117",
                "ESID Registry 20171117",
                "GRID V2.0"
            ],
            "phenotypes": [
                "Myeloperoxidase deficiency 254600"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 111,
                "hash_id": "58c7fd7f8f6203413360f1b6",
                "name": "COVID-19 research",
                "disease_group": "Viral research",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.76",
                "version_created": "2021-02-11T13:39:47.299899Z",
                "relevant_disorders": [
                    "Viral susceptibility"
                ],
                "stats": {
                    "number_of_genes": 691,
                    "number_of_strs": 0,
                    "number_of_regions": 2
                },
                "types": [
                    {
                        "name": "Research",
                        "slug": "research",
                        "description": "This is a gene panel used for research."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "Munc13-4"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:23147",
                "gene_name": "unc-13 homolog D",
                "omim_gene": [
                    "608897"
                ],
                "alias_name": null,
                "gene_symbol": "UNC13D",
                "hgnc_symbol": "UNC13D",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:73823306-73840798",
                            "ensembl_id": "ENSG00000092929"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:75827225-75844717",
                            "ensembl_id": "ENSG00000092929"
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                    }
                },
                "hgnc_date_symbol_changed": "2003-10-16"
            },
            "entity_type": "gene",
            "entity_name": "UNC13D",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "15632205",
                "14622600",
                "16278825",
                "15703195",
                "17993578"
            ],
            "evidence": [
                "IUIS Classification February 2018",
                "London North GLH",
                "GOSH PID v.8.0",
                "NHS GMS",
                "GRID V2.0",
                "Victorian Clinical Genetics Services",
                "North West GLH",
                "ESID Registry 20171117",
                "Expert Review Green",
                "NHS GMS",
                "North West GLH",
                "London North GLH",
                "IUIS Classification February 2018",
                "Victorian Clinical Genetics Services",
                "Expert Review Green",
                "ESID Registry 20171117",
                "GRID V2.0",
                "GOSH PID v.8.0"
            ],
            "phenotypes": [
                "Hemophagocytic lymphohistiocytosis, familial 3, 608898",
                "Diseases of Immune Dysregulation",
                "Familial hemophagocytic lymphohistiocytosis syndromes (FHLH)",
                "HPLH3",
                "HLH3",
                "FHL3",
                "Fever, HSM, HLH, cytopenias,"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 111,
                "hash_id": "58c7fd7f8f6203413360f1b6",
                "name": "COVID-19 research",
                "disease_group": "Viral research",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.76",
                "version_created": "2021-02-11T13:39:47.299899Z",
                "relevant_disorders": [
                    "Viral susceptibility"
                ],
                "stats": {
                    "number_of_genes": 691,
                    "number_of_strs": 0,
                    "number_of_regions": 2
                },
                "types": [
                    {
                        "name": "Research",
                        "slug": "research",
                        "description": "This is a gene panel used for research."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "COLEC1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6922",
                "gene_name": "mannose binding lectin 2",
                "omim_gene": [
                    "154545"
                ],
                "alias_name": null,
                "gene_symbol": "MBL2",
                "hgnc_symbol": "MBL2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:54525140-54531460",
                            "ensembl_id": "ENSG00000165471"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:52765380-52771700",
                            "ensembl_id": "ENSG00000165471"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1990-05-25"
            },
            "entity_type": "gene",
            "entity_name": "MBL2",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "16185324",
                "28347655",
                "10888598",
                "19405982",
                "1458688",
                "16170752",
                "15838797",
                "7707811",
                "25818534"
            ],
            "evidence": [
                "Literature",
                "GRID V2.0",
                "ESID Registry 20171117",
                "Expert Review Amber",
                "Inherited complement deficiency v0.11",
                "London North GLH",
                "NHS GMS",
                "North West GLH"
            ],
            "phenotypes": [
                "Mannose-binding lectin deficiency (MBL)",
                "susceptibility to SARS-CoV",
                "Susceptibility to Severe Acute Respiratory Syndrome Coronavirus Infection",
                "Chronic infections, due to MBL deficiency",
                "Mannose-Binding Protein Deficiency, 614372"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 111,
                "hash_id": "58c7fd7f8f6203413360f1b6",
                "name": "COVID-19 research",
                "disease_group": "Viral research",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.76",
                "version_created": "2021-02-11T13:39:47.299899Z",
                "relevant_disorders": [
                    "Viral susceptibility"
                ],
                "stats": {
                    "number_of_genes": 691,
                    "number_of_strs": 0,
                    "number_of_regions": 2
                },
                "types": [
                    {
                        "name": "Research",
                        "slug": "research",
                        "description": "This is a gene panel used for research."
                    }
                ]
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "GBP",
                    "LCEH",
                    "LCHAD",
                    "MTPA"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4801",
                "gene_name": "hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha",
                "omim_gene": [
                    "600890"
                ],
                "alias_name": [
                    "gastrin-binding protein",
                    "long-chain-3-hydroxyacyl-CoA dehydrogenase",
                    "long-chain 2-enoyl-CoA hydratase",
                    "mitochondrial trifunctional protein, alpha subunit"
                ],
                "gene_symbol": "HADHA",
                "hgnc_symbol": "HADHA",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:26413504-26467594",
                            "ensembl_id": "ENSG00000084754"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:26190635-26244726",
                            "ensembl_id": "ENSG00000084754"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-12-16"
            },
            "entity_type": "gene",
            "entity_name": "HADHA",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "25929793"
            ],
            "evidence": [
                "Expert Review Green",
                "Illumina TruGenome Clinical Sequencing Services",
                "Literature",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                "UKGTN"
            ],
            "phenotypes": [
                "Trifunctional protein deficiency\t609015"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 66,
                "hash_id": "55b63d7f22c1fc05fc7a185b",
                "name": "Rhabdomyolysis and metabolic muscle disorders",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Neuromuscular disorders",
                "status": "public",
                "version": "1.43",
                "version_created": "2020-10-20T15:10:47.164070Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 60,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    },
                    {
                        "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."
                    },
                    {
                        "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)"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "Nav1.1",
                    "GEFSP2",
                    "HBSCI",
                    "NAC1",
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                ],
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                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    },
                    {
                        "name": "GMS signed-off",
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                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
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        {
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                "omim_gene": [
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                    "copper pump 2",
                    "copper-transporting ATPase 2"
                ],
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                        "slug": "gms-rare-disease",
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                    },
                    {
                        "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."
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
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                ]
            },
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        },
        {
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                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:30100",
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                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "PSENEN",
                "hgnc_symbol": "PSENEN",
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                            "location": "19:36236015-36237911",
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                    },
                    "GRch38": {
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                            "location": "19:35745114-35747519",
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                "hgnc_date_symbol_changed": "2005-02-08"
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            "entity_type": "gene",
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            "mode_of_pathogenicity": null,
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                "Expert list"
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                "ACNINV2",
                "ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE"
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                    "number_of_regions": 0
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                "types": [
                    {
                        "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": "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."
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
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                ]
            },
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        {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8850",
                "gene_name": "peroxisomal biogenesis factor 1",
                "omim_gene": [
                    "602136"
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                "alias_name": null,
                "gene_symbol": "PEX1",
                "hgnc_symbol": "PEX1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "7:92116334-92157845",
                            "ensembl_id": "ENSG00000127980"
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                    },
                    "GRch38": {
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                            "location": "7:92487020-92528531",
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                "hgnc_date_symbol_changed": "1998-01-08"
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            "entity_type": "gene",
            "entity_name": "PEX1",
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                "25527826",
                "28334938",
                "20301621",
                "24357685"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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            "panel": {
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                "hash_id": null,
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                "disease_sub_group": "",
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                "version_created": "2020-10-15T17:27:52.932806Z",
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                "types": [
                    {
                        "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": "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."
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
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                ]
            },
            "transcript": null
        },
        {
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                    "EJM6",
                    "ClC-2"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2020",
                "gene_name": "chloride voltage-gated channel 2",
                "omim_gene": [
                    "600570"
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                "alias_name": null,
                "gene_symbol": "CLCN2",
                "hgnc_symbol": "CLCN2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "3:184063973-184079439",
                            "ensembl_id": "ENSG00000114859"
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                    },
                    "GRch38": {
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                            "ensembl_id": "ENSG00000114859"
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                },
                "hgnc_date_symbol_changed": "1994-01-28"
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            "entity_type": "gene",
            "entity_name": "CLCN2",
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            "publications": [
                "23707145",
                "19191339"
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            "evidence": [
                "Expert Review Green",
                "Literature"
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                "Leukoencephalopathy with ataxia, 615651",
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            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
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                "version": "1.211",
                "version_created": "2021-02-18T12:16:08.364123Z",
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                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
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        {
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                    "EA2",
                    "APCA",
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                    "FHM"
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                "hgnc_id": "HGNC:1388",
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            "entity_type": "gene",
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                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
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                ]
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        {
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                "hgnc_id": "HGNC:11199",
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                "alias_name": null,
                "gene_symbol": "SOX3",
                "hgnc_symbol": "SOX3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:139585152-139587225",
                            "ensembl_id": "ENSG00000134595"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "X:140502985-140505116",
                            "ensembl_id": "ENSG00000134595"
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                },
                "hgnc_date_symbol_changed": "1993-11-30"
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            "entity_type": "gene",
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            "mode_of_pathogenicity": null,
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            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
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                "version_created": "2020-12-07T14:33:23.160605Z",
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                    "Kallmann syndrom",
                    "Idiopathic hypogonadotropic hypogonadism"
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                    "number_of_regions": 0
                },
                "types": [
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                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
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        {
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                    "HL1",
                    "PCD",
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                    "KTGNR"
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                "hgnc_id": "HGNC:2950",
                "gene_name": "dynein axonemal heavy chain 5",
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                "alias_name": [
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                "hgnc_symbol": "DNAH5",
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                "Expert Review Red",
                "Emory Genetics Laboratory",
                "UKGTN"
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                    "Polycystic liver disease"
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                "types": [
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                        "name": "Rare Disease 100K",
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                        "description": "Rare Disease 100K"
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                ]
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        {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8079",
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                "alias_name": null,
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                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
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                    {
                        "name": "GMS signed-off",
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                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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                    {
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        {
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                "gene_name": "transporter 2, ATP binding cassette subfamily B member",
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                "alias_name": null,
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                        "name": "Rare Disease 100K",
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                        "name": "GMS Rare Disease Virtual",
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                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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                        "name": "Research",
                        "slug": "research",
                        "description": "This is a gene panel used for research."
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        },
        {
            "gene_data": {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14059",
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                "omim_gene": [
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                "alias_name": null,
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                "hgnc_symbol": "CELF6",
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                "ensembl_genes": {
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                "hgnc_date_symbol_changed": "2011-07-21"
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                        "slug": "research",
                        "description": "This is a gene panel used for research."
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                ]
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        },
        {
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                    "IKI3"
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                "omim_gene": [
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                "alias_name": [
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            "penetrance": "Complete",
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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                    "neuropathic pain",
                    "Pain channelopathies"
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                        "name": "Rare Disease 100K",
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        {
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                    "LFB1"
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                "omim_gene": [
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                "alias_name": null,
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                "hgnc_symbol": "HNF1A",
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                "ensembl_genes": {
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                    },
                    {
                        "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."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "XH2",
                    "XNP"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:886",
                "gene_name": "ATRX, chromatin remodeler",
                "omim_gene": [
                    "300032",
                    "300504"
                ],
                "alias_name": [
                    "RAD54 homolog (S. cerevisiae)"
                ],
                "gene_symbol": "ATRX",
                "hgnc_symbol": "ATRX",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:76760356-77041702",
                            "ensembl_id": "ENSG00000085224"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:77504878-77786269",
                            "ensembl_id": "ENSG00000085224"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-11-27"
            },
            "entity_type": "gene",
            "entity_name": "ATRX",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "11449489",
                "17579672",
                "19444090"
            ],
            "evidence": [
                "Expert Review Red",
                "NHS GMS",
                "London South GLH"
            ],
            "phenotypes": [
                "301040 Alpha-thalassemia/mental retardation syndrome"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "tags": [],
            "panel": {
                "id": 518,
                "hash_id": null,
                "name": "Rare anaemia",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.14",
                "version_created": "2021-02-09T09:36:22.230290Z",
                "relevant_disorders": [
                    "R92"
                ],
                "stats": {
                    "number_of_genes": 97,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "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": "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."
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "VPS4",
                    "VPS4-1",
                    "FLJ22197",
                    "SKD2",
                    "SKD1",
                    "SKD1A"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13488",
                "gene_name": "vacuolar protein sorting 4 homolog A",
                "omim_gene": [
                    "609982"
                ],
                "alias_name": null,
                "gene_symbol": "VPS4A",
                "hgnc_symbol": "VPS4A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:69345259-69358949",
                            "ensembl_id": "ENSG00000132612"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:69311356-69326939",
                            "ensembl_id": "ENSG00000132612"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-06-12"
            },
            "entity_type": "gene",
            "entity_name": "VPS4A",
            "confidence_level": "2",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
            "publications": [
                "33186545",
                "33186543",
                "33460484"
            ],
            "evidence": [
                "Expert Review Amber",
                "Research",
                "Literature"
            ],
            "phenotypes": [
                "CIMDAG syndrome"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [
                "for-review"
            ],
            "panel": {
                "id": 518,
                "hash_id": null,
                "name": "Rare anaemia",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.14",
                "version_created": "2021-02-09T09:36:22.230290Z",
                "relevant_disorders": [
                    "R92"
                ],
                "stats": {
                    "number_of_genes": 97,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "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": "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."
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7448",
                "gene_name": "myotubularin 1",
                "omim_gene": [
                    "300415"
                ],
                "alias_name": null,
                "gene_symbol": "MTM1",
                "hgnc_symbol": "MTM1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:149737069-149841795",
                            "ensembl_id": "ENSG00000171100"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:150568619-150673322",
                            "ensembl_id": "ENSG00000171100"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "MTM1",
            "confidence_level": "3",
            "penetrance": "Incomplete",
            "mode_of_pathogenicity": null,
            "publications": [
                "9305655",
                "9285787"
            ],
            "evidence": [
                "NHS GMS",
                "Yorkshire and North East GLH",
                "Expert Review",
                "Expert Review Green",
                "Expert list",
                "Literature"
            ],
            "phenotypes": [
                "Myotubular myopathy, X-linked, 310400"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "tags": [],
            "panel": {
                "id": 185,
                "hash_id": "55b7a65322c1fc05fc7a1869",
                "name": "Limb girdle muscular dystrophy",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Neuromuscular disorders",
                "status": "public",
                "version": "2.18",
                "version_created": "2021-02-08T16:10:17.603451Z",
                "relevant_disorders": [
                    "R82"
                ],
                "stats": {
                    "number_of_genes": 93,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    },
                    {
                        "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."
                    },
                    {
                        "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)"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "KIAA0288",
                    "HDAC-A",
                    "HDACA",
                    "HD4",
                    "HA6116",
                    "HDAC-4"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14063",
                "gene_name": "histone deacetylase 4",
                "omim_gene": [
                    "605314"
                ],
                "alias_name": null,
                "gene_symbol": "HDAC4",
                "hgnc_symbol": "HDAC4",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:239969864-240323348",
                            "ensembl_id": "ENSG00000068024"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:239048168-239401654",
                            "ensembl_id": "ENSG00000068024"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-11-28"
            },
            "entity_type": "gene",
            "entity_name": "HDAC4",
            "confidence_level": "2",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "19365831",
                "15521982",
                "20691407",
                "25402011"
            ],
            "evidence": [
                "Expert Review Amber",
                "NHS GMS",
                "Expert list",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                ""
            ],
            "phenotypes": [
                "Albright hereditary osteodystrophy type 3",
                "Brachydactyly-intellectual disability",
                "Albright hereditary osteodystrophy type 3, Albright hereditary osteodystrophy-like syndrome, Brachydactyly-intellectual disability, Del(2)(q37) 600430",
                "Albright hereditary osteodystrophy-like syndrome",
                "Del(2)(q37) 600430"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 309,
                "hash_id": "5693952f22c1fc251660fb1e",
                "name": "Skeletal dysplasia",
                "disease_group": "Skeletal disorders",
                "disease_sub_group": "Skeletal dysplasias",
                "status": "public",
                "version": "2.83",
                "version_created": "2021-02-11T20:31:53.481283Z",
                "relevant_disorders": [
                    "Unexplained skeletal dysplasia",
                    "Skeletal dysplasia",
                    "R104"
                ],
                "stats": {
                    "number_of_genes": 584,
                    "number_of_strs": 1,
                    "number_of_regions": 6
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    },
                    {
                        "name": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "DBA",
                    "S19"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10402",
                "gene_name": "ribosomal protein S19",
                "omim_gene": [
                    "603474"
                ],
                "alias_name": [
                    "Diamond-Blackfan anemia"
                ],
                "gene_symbol": "RPS19",
                "hgnc_symbol": "RPS19",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:42363988-42376994",
                            "ensembl_id": "ENSG00000105372"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:41859918-41872926",
                            "ensembl_id": "ENSG00000105372"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-07-22"
            },
            "entity_type": "gene",
            "entity_name": "RPS19",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "25946618",
                "24675553",
                "15384984",
                "9988267"
            ],
            "evidence": [
                "Expert Review Green",
                "London South GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "Diamond_Blackfan Anemia",
                "Diamond-Blackfan anemia 1, 105650",
                "DIAMOND-BLACKFAN ANEMIA 1",
                "Diamond-Blackfan Anemia",
                "Inherited Bone Marrow Failure Syndromes",
                "Diamond Blackfan anemia"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 519,
                "hash_id": null,
                "name": "Cytopenia - NOT Fanconi anaemia",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.35",
                "version_created": "2021-01-14T11:42:12.685162Z",
                "relevant_disorders": [
                    "R91"
                ],
                "stats": {
                    "number_of_genes": 125,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "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": "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."
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ22167",
                    "ALYE870",
                    "PRO1886",
                    "JBTS20",
                    "MKS11"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:37234",
                "gene_name": "transmembrane protein 231",
                "omim_gene": [
                    "614949"
                ],
                "alias_name": null,
                "gene_symbol": "TMEM231",
                "hgnc_symbol": "TMEM231",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:75572015-75590184",
                            "ensembl_id": "ENSG00000205084"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:75536744-75556286",
                            "ensembl_id": "ENSG00000205084"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2009-10-02"
            },
            "entity_type": "gene",
            "entity_name": "TMEM231",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "23012439",
                "23349226"
            ],
            "evidence": [
                "Expert Review Green"
            ],
            "phenotypes": [
                "Ciliopathy genes associated with cystic kidney disease",
                "Joubert syndrome 20 614970",
                "Meckel syndrome 11 615397"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 678,
                "hash_id": null,
                "name": "Unexplained paediatric onset end-stage renal disease",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.15",
                "version_created": "2021-02-11T16:35:49.232720Z",
                "relevant_disorders": [
                    "R257"
                ],
                "stats": {
                    "number_of_genes": 231,
                    "number_of_strs": 0,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "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": "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."
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2295",
                "gene_name": "ceruloplasmin",
                "omim_gene": [
                    "117700"
                ],
                "alias_name": [
                    "ferroxidase"
                ],
                "gene_symbol": "CP",
                "hgnc_symbol": "CP",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:148880197-148939842",
                            "ensembl_id": "ENSG00000047457"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:149162410-149222055",
                            "ensembl_id": "ENSG00000047457"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "CP",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "7708681",
                "3574673"
            ],
            "evidence": [
                "Wessex and West Midlands GLH",
                "Yorkshire and North East GLH",
                "NHS GMS",
                "London North GLH",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Dystonia",
                "Aceruloplasminemia",
                "Cerebellar ataxia, 604290",
                "Hemosiderosis, systemic, due to aceruloplasminemia, 604290"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 474,
                "hash_id": null,
                "name": "Neurodegenerative disorders - adult onset",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "2.39",
                "version_created": "2021-01-28T16:53:22.044761Z",
                "relevant_disorders": [
                    "R58"
                ],
                "stats": {
                    "number_of_genes": 401,
                    "number_of_strs": 16,
                    "number_of_regions": 4
                },
                "types": [
                    {
                        "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": "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."
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12718",
                "gene_name": "vaccinia related kinase 1",
                "omim_gene": [
                    "602168"
                ],
                "alias_name": null,
                "gene_symbol": "VRK1",
                "hgnc_symbol": "VRK1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:97263641-97398059",
                            "ensembl_id": "ENSG00000100749"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "14:96797304-96931722",
                            "ensembl_id": "ENSG00000100749"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-06-12"
            },
            "entity_type": "gene",
            "entity_name": "VRK1",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "26583493"
            ],
            "evidence": [
                "Expert Review Red",
                "Wessex and West Midlands GLH",
                "Yorkshire and North East GLH",
                "NHS GMS",
                "London North GLH"
            ],
            "phenotypes": [
                "Pontocerebellar hypoplasia 1A (#607596)"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 474,
                "hash_id": null,
                "name": "Neurodegenerative disorders - adult onset",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "2.39",
                "version_created": "2021-01-28T16:53:22.044761Z",
                "relevant_disorders": [
                    "R58"
                ],
                "stats": {
                    "number_of_genes": 401,
                    "number_of_strs": 16,
                    "number_of_regions": 4
                },
                "types": [
                    {
                        "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": "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."
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CDG1N"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:30220",
                "gene_name": "RFT1 homolog",
                "omim_gene": [
                    "611908"
                ],
                "alias_name": [
                    "congenital disorder of glycosylation 1N"
                ],
                "gene_symbol": "RFT1",
                "hgnc_symbol": "RFT1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:53122499-53164478",
                            "ensembl_id": "ENSG00000163933"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:53088483-53130462",
                            "ensembl_id": "ENSG00000163933"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-01-19"
            },
            "entity_type": "gene",
            "entity_name": "RFT1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "27604308"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Flippase of Man5GlcNAc2-PP-Dol deficiency (Disorders of protein N-glycosylation)",
                "Congenital disorder of glycosylation, type In 612015",
                "Flippase of Man5GlcNAc2-PP-Dol deficiency (Disorders of protein N-glycosylation)"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 302,
                "hash_id": "5763f1518f620350a22bccdb",
                "name": "Undiagnosed metabolic disorders",
                "disease_group": "Metabolic disorders",
                "disease_sub_group": "Specific metabolic abnormalities",
                "status": "public",
                "version": "1.447",
                "version_created": "2021-02-11T16:34:25.452960Z",
                "relevant_disorders": [
                    "Undiagnosed Metabolic Panel"
                ],
                "stats": {
                    "number_of_genes": 751,
                    "number_of_strs": 1,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:397",
                "gene_name": "5'-aminolevulinate synthase 2",
                "omim_gene": [
                    "301300"
                ],
                "alias_name": [
                    "sideroblastic/hypochromic anemia"
                ],
                "gene_symbol": "ALAS2",
                "hgnc_symbol": "ALAS2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:55035488-55057497",
                            "ensembl_id": "ENSG00000158578"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:55009055-55031064",
                            "ensembl_id": "ENSG00000158578"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1989-05-25"
            },
            "entity_type": "gene",
            "entity_name": "ALAS2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "27604308"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert list",
                "London North GLH",
                "NHS GMS"
            ],
            "phenotypes": [
                "Erythropoietic protoporphyria, mild variant",
                "X-linked sideroblastic anaemia (XLSA) (Porphyrias with acute painful photosensitivity)",
                "X-linked dominant protoporphyria (Porphyrias with acute painful photosensitivity)"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
            "tags": [],
            "panel": {
                "id": 467,
                "hash_id": null,
                "name": "Inborn errors of metabolism",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "2.101",
                "version_created": "2021-02-11T14:47:45.871873Z",
                "relevant_disorders": [
                    "Likely inborn error of metabolism - targeted testing not possible",
                    "Likely inborn error of metabolism",
                    "R98"
                ],
                "stats": {
                    "number_of_genes": 899,
                    "number_of_strs": 3,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    },
                    {
                        "name": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:830",
                "gene_name": "ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide",
                "omim_gene": [
                    "102910"
                ],
                "alias_name": null,
                "gene_symbol": "ATP5B",
                "hgnc_symbol": "ATP5B",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:57031959-57039798",
                            "ensembl_id": "ENSG00000110955"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:56638175-56646068",
                            "ensembl_id": "ENSG00000110955"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1989-06-30"
            },
            "entity_type": "gene",
            "entity_name": "ATP5B",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red"
            ],
            "phenotypes": [
                "No OMIM phenotype"
            ],
            "mode_of_inheritance": "Unknown",
            "tags": [
                "new-gene-name"
            ],
            "panel": {
                "id": 467,
                "hash_id": null,
                "name": "Inborn errors of metabolism",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "2.101",
                "version_created": "2021-02-11T14:47:45.871873Z",
                "relevant_disorders": [
                    "Likely inborn error of metabolism - targeted testing not possible",
                    "Likely inborn error of metabolism",
                    "R98"
                ],
                "stats": {
                    "number_of_genes": 899,
                    "number_of_strs": 3,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    },
                    {
                        "name": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ10326"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29685",
                "gene_name": "isoleucyl-tRNA synthetase 2, mitochondrial",
                "omim_gene": [
                    "612801"
                ],
                "alias_name": [
                    "isoleucine tRNA ligase 2, mitochondrial"
                ],
                "gene_symbol": "IARS2",
                "hgnc_symbol": "IARS2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:220267444-220321380",
                            "ensembl_id": "ENSG00000067704"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:220094102-220148041",
                            "ensembl_id": "ENSG00000067704"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-05-09"
            },
            "entity_type": "gene",
            "entity_name": "IARS2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "PMID: 25130867 (3 related cases with CAGSSS homozygous for a rare nonsynonymous variant in this gene, an unrelated case with Leigh syndrome compound heterozygous for variants within this gene)",
                "PMID: 27078007 (full text not available to confirm findings)."
            ],
            "evidence": [
                "Expert Review Green",
                "London North GLH",
                "NHS GMS",
                "Expert Review Green",
                "Victorian Clinical Genetics Services"
            ],
            "phenotypes": [
                "CAGSSS - Cataracts (CA), growth hormone deficiency (G), sensory neuropathy (S), sensorineural hearing loss (S), and skeletal dysplasia (S)",
                "Required for mitochondrial gene expression  (Mitochondrial respiratory chain disorders (caused by nuclear variants only))",
                "No OMIM phenotype"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 467,
                "hash_id": null,
                "name": "Inborn errors of metabolism",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "2.101",
                "version_created": "2021-02-11T14:47:45.871873Z",
                "relevant_disorders": [
                    "Likely inborn error of metabolism - targeted testing not possible",
                    "Likely inborn error of metabolism",
                    "R98"
                ],
                "stats": {
                    "number_of_genes": 899,
                    "number_of_strs": 3,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    },
                    {
                        "name": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ20071",
                    "DMC",
                    "SMC"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21317",
                "gene_name": "dymeclin",
                "omim_gene": [
                    "607461"
                ],
                "alias_name": null,
                "gene_symbol": "DYM",
                "hgnc_symbol": "DYM",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "18:46570039-46987717",
                            "ensembl_id": "ENSG00000141627"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "18:49041474-49461347",
                            "ensembl_id": "ENSG00000141627"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-01-05"
            },
            "entity_type": "gene",
            "entity_name": "DYM",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green"
            ],
            "phenotypes": [
                "Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388",
                "Dyggve-Melchior-Clausen disease, 223800",
                "Smith-McCort dysplasia, 607326"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 467,
                "hash_id": null,
                "name": "Inborn errors of metabolism",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "2.101",
                "version_created": "2021-02-11T14:47:45.871873Z",
                "relevant_disorders": [
                    "Likely inborn error of metabolism - targeted testing not possible",
                    "Likely inborn error of metabolism",
                    "R98"
                ],
                "stats": {
                    "number_of_genes": 899,
                    "number_of_strs": 3,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    },
                    {
                        "name": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "nexilin",
                    "NELIN"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29557",
                "gene_name": "nexilin F-actin binding protein",
                "omim_gene": [
                    "613121"
                ],
                "alias_name": null,
                "gene_symbol": "NEXN",
                "hgnc_symbol": "NEXN",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:78354198-78409580",
                            "ensembl_id": "ENSG00000162614"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:77888513-77943895",
                            "ensembl_id": "ENSG00000162614"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-01-09"
            },
            "entity_type": "gene",
            "entity_name": "NEXN",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "19881492",
                "27532257"
            ],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "South West GLH",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services",
                "London South GLH",
                "North West GLH",
                "Expert list",
                "Emory Genetics Laboratory",
                "South West GLH",
                "London South GLH",
                "North West GLH"
            ],
            "phenotypes": [
                "Cardiomyopathy, dilated, 1CC (613122)",
                "Cardiomyopathy, hypertrophic, 20 (613876)",
                "Cardiomyopathy, dilated, 1CC"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
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            "panel": {
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                "hash_id": null,
                "name": "Dilated cardiomyopathy - adult and teen",
                "disease_group": "Cardiovascular disorders",
                "disease_sub_group": "Cardiomyopathy",
                "status": "public",
                "version": "1.13",
                "version_created": "2021-02-25T11:24:14.657734Z",
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                    "R132"
                ],
                "stats": {
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                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "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."
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "TAUT"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11052",
                "gene_name": "solute carrier family 6 member 6",
                "omim_gene": [
                    "186854"
                ],
                "alias_name": [
                    "taurine transporter"
                ],
                "gene_symbol": "SLC6A6",
                "hgnc_symbol": "SLC6A6",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:14444076-14530857",
                            "ensembl_id": "ENSG00000131389"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:14402576-14489349",
                            "ensembl_id": "ENSG00000131389"
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                    }
                },
                "hgnc_date_symbol_changed": "1994-05-25"
            },
            "entity_type": "gene",
            "entity_name": "SLC6A6",
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            "penetrance": null,
            "mode_of_pathogenicity": null,
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                "31345061",
                "31903486",
                "29886034",
                "17875433",
                "20804595"
            ],
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                "Expert Review Amber",
                "Literature"
            ],
            "phenotypes": [
                "Early retinal degeneration",
                "cardiomyopathy"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "watchlist"
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            "panel": {
                "id": 652,
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                    "R132"
                ],
                "stats": {
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                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "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"
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                    {
                        "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."
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    }
                ]
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4879",
                "gene_name": "hexosaminidase subunit beta",
                "omim_gene": [
                    "606873"
                ],
                "alias_name": [
                    "beta-hexosaminidase subunit beta"
                ],
                "gene_symbol": "HEXB",
                "hgnc_symbol": "HEXB",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:73935848-74018472",
                            "ensembl_id": "ENSG00000049860"
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                    "GRch38": {
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                            "location": "5:74640023-74722647",
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                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "HEXB",
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            "publications": [],
            "evidence": [
                "Expert Review Red",
                "PAGE DD-Gene2Phenotype"
            ],
            "phenotypes": [
                "GM2-GANGLIOSIDOSIS TYPE 2"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 478,
                "hash_id": null,
                "name": "Fetal anomalies",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.628",
                "version_created": "2021-02-11T19:28:33.847096Z",
                "relevant_disorders": [
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                    "Fetal anomalies with a likely genetic cause"
                ],
                "stats": {
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                    "number_of_regions": 1
                },
                "types": [
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                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    },
                    {
                        "name": "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."
                    }
                ]
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            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3018",
                "gene_name": "solute carrier family 26 member 3",
                "omim_gene": [
                    "126650"
                ],
                "alias_name": null,
                "gene_symbol": "SLC26A3",
                "hgnc_symbol": "SLC26A3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:107405912-107443670",
                            "ensembl_id": "ENSG00000091138"
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                    },
                    "GRch38": {
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                            "location": "7:107765467-107803225",
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                },
                "hgnc_date_symbol_changed": "1993-04-01"
            },
            "entity_type": "gene",
            "entity_name": "SLC26A3",
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        },
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                ]
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                    {
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                    {
                        "name": "GMS Rare Disease",
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        {
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                "gene_name": "SLX4 structure-specific endonuclease subunit",
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                    "613278"
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                "alias_name": [
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                },
                "hgnc_date_symbol_changed": "2010-09-13"
            },
            "entity_type": "gene",
            "entity_name": "SLX4",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
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                "21240275",
                "21240277"
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            "evidence": [
                "Victorian Clinical Genetics Services",
                "Expert Review Green"
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                    "severe or profound intellectual disability",
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                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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            "transcript": null
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        {
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                    "XAP121"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2063",
                "gene_name": "chloride intracellular channel 2",
                "omim_gene": [
                    "300138"
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                "alias_name": null,
                "gene_symbol": "CLIC2",
                "hgnc_symbol": "CLIC2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "X:154505500-154563966",
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                "hgnc_date_symbol_changed": "1997-10-17"
            },
            "entity_type": "gene",
            "entity_name": "CLIC2",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
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                "22814392",
                "25927380"
            ],
            "evidence": [
                "Victorian Clinical Genetics Services",
                "Expert Review Red",
                "Expert Review Red",
                "Radboud University Medical Center, Nijmegen",
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            "phenotypes": [
                "Mental retardation, X-linked, syndromic 32, 300886"
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                    "Moderate",
                    "severe or profound intellectual disability",
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                        "name": "Rare Disease 100K",
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                    {
                        "name": "GMS Rare Disease Virtual",
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                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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        {
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                "omim_gene": [
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                "alias_name": [
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                "hgnc_date_symbol_changed": "1993-05-04"
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            "entity_type": "gene",
            "entity_name": "EXT1",
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                "BRIDGE study SPEED NEURO Tier1 Gene"
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                "gene_symbol": "MAGEB10",
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            "entity_type": "gene",
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        {
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            "entity_type": "gene",
            "entity_name": "SETX",
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            "mode_of_pathogenicity": "Other - please provide details in the comments ",
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                "BRIDGE study SPEED NEURO Tier1 Gene"
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        {
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                    "KIAA1857",
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                "hgnc_id": "HGNC:14288",
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                "omim_gene": [
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            "entity_type": "gene",
            "entity_name": "TENM1",
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                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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                    "LGN",
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29501",
                "gene_name": "G protein signaling modulator 2",
                "omim_gene": [
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                "alias_name": null,
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                "ensembl_genes": {
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            "entity_type": "gene",
            "entity_name": "GPSM2",
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            "penetrance": "Complete",
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                "20602914",
                "21348867"
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            "evidence": [
                "Expert Review Green"
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            "phenotypes": [
                "Chudley-McCullough syndrome, 604213"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
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            ],
            "panel": {
                "id": 285,
                "hash_id": "558aa423bb5a16630e15b63c",
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                "disease_group": "Neurology and neurodevelopmental disorders",
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                "version": "3.963",
                "version_created": "2021-02-16T17:48:17.325606Z",
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                    "Coarse facial features including Coffin-Siris-like disorders",
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                    "Moderate",
                    "severe or profound intellectual disability",
                    "Schizophrenia plus additional features",
                    "Intellectual disability - microarray",
                    "fragile X and sequencing",
                    "R29"
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                "stats": {
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                    "number_of_strs": 12,
                    "number_of_regions": 57
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                "types": [
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                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
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                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
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                    {
                        "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."
                    }
                ]
            },
            "transcript": null
        },
        {
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                    "JNCL",
                    "BTN1"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2074",
                "gene_name": "CLN3, battenin",
                "omim_gene": [
                    "607042"
                ],
                "alias_name": [
                    "juvenile neuronal ceroid lipofuscinosis"
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                "gene_symbol": "CLN3",
                "hgnc_symbol": "CLN3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:28477983-28506896",
                            "ensembl_id": "ENSG00000188603"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "16:28474111-28495575",
                            "ensembl_id": "ENSG00000188603"
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                    }
                },
                "hgnc_date_symbol_changed": "1989-06-06"
            },
            "entity_type": "gene",
            "entity_name": "CLN3",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Victorian Clinical Genetics Services",
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Ceroid lipofuscinosis, neuronal, 3, 204200",
                "NEURONAL CEROID LIPOFUSCINOSIS TYPE 3 (CLN3)"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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            "panel": {
                "id": 285,
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                "version": "3.963",
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                    "ID",
                    "Moderate",
                    "severe or profound intellectual disability",
                    "Schizophrenia plus additional features",
                    "Intellectual disability - microarray",
                    "fragile X and sequencing",
                    "R29"
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                "stats": {
                    "number_of_genes": 2461,
                    "number_of_strs": 12,
                    "number_of_regions": 57
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                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
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                    {
                        "name": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    },
                    {
                        "name": "GMS signed-off",
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                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:31830",
                "gene_name": "mitochondrial calcium uptake 2",
                "omim_gene": [
                    "610632"
                ],
                "alias_name": null,
                "gene_symbol": "MICU2",
                "hgnc_symbol": "MICU2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "13:22066836-22178353",
                            "ensembl_id": "ENSG00000165487"
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                    "GRch38": {
                        "90": {
                            "location": "13:21492691-21604214",
                            "ensembl_id": "ENSG00000165487"
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                "hgnc_date_symbol_changed": "2013-03-13"
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            "entity_type": "gene",
            "entity_name": "MICU2",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "29903433",
                "29053821"
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            "evidence": [
                "Expert list"
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            "phenotypes": [
                "severe cognitive impairment and spasticity"
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                "hash_id": "55928cf522c1fc4f7d26e960",
                "name": "Mitochondrial disorders",
                "disease_group": "Metabolic disorders",
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                "version": "2.19",
                "version_created": "2021-02-16T16:24:09.010657Z",
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                    "Lactic acidosis",
                    "All recognised syndromes and those with suggestive features"
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                "stats": {
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                    "number_of_regions": 1
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                "types": [
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                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
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                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
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                    {
                        "name": "Component Of Super Panel",
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                        "description": "This panel is a component of a Super Panel"
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                    {
                        "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."
                    }
                ]
            },
            "transcript": null
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        {
            "gene_data": {
                "alias": [
                    "KARS2",
                    "KARS1"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6215",
                "gene_name": "lysyl-tRNA synthetase",
                "omim_gene": [
                    "601421"
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                "alias_name": [
                    "lysine tRNA ligase"
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                "gene_symbol": "KARS",
                "hgnc_symbol": "KARS",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:75661622-75682541",
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                    "GRch38": {
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                            "location": "16:75627474-75648643",
                            "ensembl_id": "ENSG00000065427"
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                },
                "hgnc_date_symbol_changed": "1995-07-11"
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            "entity_type": "gene",
            "entity_name": "KARS",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
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                "28887846",
                "25330800",
                "29615062",
                "30252186",
                "28496994"
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                "Victorian Clinical Genetics Services",
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
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                "Expert"
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                "Multiple respiratory chain complex deficiencies (disorders of protein synthesis)",
                "Charcot-Marie-Tooth disease, recessive intermediate, B, 613641",
                "Deafness, autosomal recessive 89, 613916"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
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                "disease_group": "Metabolic disorders",
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                "version": "2.19",
                "version_created": "2021-02-16T16:24:09.010657Z",
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                    "Lactic acidosis",
                    "All recognised syndromes and those with suggestive features"
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                "stats": {
                    "number_of_genes": 469,
                    "number_of_strs": 2,
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                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
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                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
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                    {
                        "name": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
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                    {
                        "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."
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                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:842",
                "gene_name": "ATP synthase, H+ transporting, mitochondrial Fo complex subunit C2 (subunit 9)",
                "omim_gene": [
                    "603193"
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                "alias_name": [
                    "ATP synthase subunit 9"
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                "gene_symbol": "ATP5G2",
                "hgnc_symbol": "ATP5G2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:54026510-54071192",
                            "ensembl_id": "ENSG00000135390"
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                    "GRch38": {
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                            "location": "12:53632726-53677408",
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                },
                "hgnc_date_symbol_changed": "1994-07-27"
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            "entity_type": "gene",
            "entity_name": "ATP5G2",
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            "penetrance": "Complete",
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                "Expert Review Red",
                "Radboud University Medical Center, Nijmegen"
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            "phenotypes": [
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            "tags": [
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                "version_created": "2021-02-16T16:24:09.010657Z",
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                    "All recognised syndromes and those with suggestive features"
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                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
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                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
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                    {
                        "name": "Component Of Super Panel",
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                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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            "transcript": null
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        {
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                    "CSNB2B"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1386",
                "gene_name": "calcium binding protein 4",
                "omim_gene": [
                    "608965"
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                "alias_name": null,
                "gene_symbol": "CABP4",
                "hgnc_symbol": "CABP4",
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                            "location": "11:67219877-67226699",
                            "ensembl_id": "ENSG00000175544"
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                    "GRch38": {
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                "hgnc_date_symbol_changed": "2000-08-31"
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            "entity_type": "gene",
            "entity_name": "CABP4",
            "confidence_level": "1",
            "penetrance": null,
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                "NHS GMS",
                "Expert Review Red"
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                "Night blindness, congenital stationary (incomplete), 2B, autosomal recessive, 610427",
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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                "version_created": "2021-02-05T11:18:53.037441Z",
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                    "R36"
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                "types": [
                    {
                        "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": "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."
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                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
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                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2410",
                "gene_name": "crystallin gamma C",
                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "CRYGC",
                "hgnc_symbol": "CRYGC",
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                    "GRch37": {
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                            "location": "2:208992861-208994554",
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                    "GRch38": {
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                "hgnc_date_symbol_changed": "1986-01-01"
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            "entity_type": "gene",
            "entity_name": "CRYGC",
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            "penetrance": null,
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                "Expert Review Green",
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                "Cataract 2, multiple types (often with microcornea), 604307"
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                        "name": "GMS Rare Disease",
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        {
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                "alias": [
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                    "FBL7",
                    "FBL6"
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                "biotype": "protein_coding",
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                "gene_name": "F-box and leucine rich repeat protein 7",
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                "hgnc_symbol": "FBXL7",
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                    "GRch37": {
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            "entity_type": "gene",
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                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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        {
            "gene_data": {
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                "omim_gene": [
                    "165360"
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                "hgnc_symbol": "CBL",
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                            "location": "11:119076752-119178859",
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                            "location": "11:119206276-119313926",
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                },
                "hgnc_date_symbol_changed": "1989-06-30"
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            "entity_type": "gene",
            "entity_name": "CBL",
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            "penetrance": null,
            "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments",
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                "Expert Review Green",
                "Expert Review"
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            "phenotypes": [
                "Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563"
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