Search Entities

GET /api/v1/entities/?page=321
HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept

{
    "count": 32632,
    "next": "https://panelapp.genomicsengland.co.uk/api/v1/entities/?page=322",
    "previous": "https://panelapp.genomicsengland.co.uk/api/v1/entities/?page=320",
    "results": [
        {
            "gene_data": {
                "alias": [
                    "P57",
                    "KIP2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1786",
                "gene_name": "cyclin dependent kinase inhibitor 1C",
                "omim_gene": [
                    "600856"
                ],
                "alias_name": null,
                "gene_symbol": "CDKN1C",
                "hgnc_symbol": "CDKN1C",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:2904443-2907111",
                            "ensembl_id": "ENSG00000129757"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:2883213-2885881",
                            "ensembl_id": "ENSG00000129757"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-09-14"
            },
            "entity_type": "gene",
            "entity_name": "CDKN1C",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "23511928",
                "20503313",
                "22205991]",
                "10424811",
                "19843502",
                "30794780",
                "PMID: 8841187",
                "[15372379",
                "http://igc.otago.ac.nz/home.html"
            ],
            "evidence": [
                "Literature",
                "Expert Review Green",
                "Imprinting GeCIP Subdomain"
            ],
            "phenotypes": [
                "Phenotypes resulting from gene over expression: IMAGE syndrome",
                "Silver-Russell Syndrome",
                "Phenotype resulting from under expression: Beckwith-Wiedemann Syndrome",
                "Affected tissue: all"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)",
            "tags": [],
            "panel": {
                "id": 227,
                "hash_id": "590b12638f6203169828a560",
                "name": "Imprinted Genes",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "0.63",
                "version_created": "2021-01-21T16:43:28.364067Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 231,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8927",
                "gene_name": "phosphorylase kinase regulatory subunit beta",
                "omim_gene": [
                    "172490"
                ],
                "alias_name": null,
                "gene_symbol": "PHKB",
                "hgnc_symbol": "PHKB",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:47495034-47735434",
                            "ensembl_id": "ENSG00000102893"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:47461123-47701523",
                            "ensembl_id": "ENSG00000102893"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1989-02-23"
            },
            "entity_type": "gene",
            "entity_name": "PHKB",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Emory Genetics Laboratory",
                "Literature"
            ],
            "phenotypes": [
                "hepatomegaly and variable myopathy",
                "Glycogen Storage Disorders- Liver",
                "Glycogen Storage Disorders- Muscle",
                "Glycogen Storage Disease"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 248,
                "hash_id": "5554c896bb5a161bf644a3cf",
                "name": "Ketotic hypoglycaemia",
                "disease_group": "Metabolic disorders",
                "disease_sub_group": "Specific metabolic abnormalities",
                "status": "public",
                "version": "1.4",
                "version_created": "2020-05-05T11:14:49.963928Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 45,
                    "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": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:638",
                "gene_name": "aquaporin 5",
                "omim_gene": [
                    "600442"
                ],
                "alias_name": null,
                "gene_symbol": "AQP5",
                "hgnc_symbol": "AQP5",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:50355653-50359464",
                            "ensembl_id": "ENSG00000161798"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:49961870-49965681",
                            "ensembl_id": "ENSG00000161798"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-07-25"
            },
            "entity_type": "gene",
            "entity_name": "AQP5",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "27255181",
                "23867895",
                "23830519"
            ],
            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Palmoplantar keratoderma, Bothnian type, 600231"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 215,
                "hash_id": "562f5e7822c1fc582756e3bb",
                "name": "Palmoplantar keratoderma and erythrokeratodermas",
                "disease_group": "Dermatological disorders",
                "disease_sub_group": "Keratodermas",
                "status": "public",
                "version": "1.17",
                "version_created": "2020-01-07T16:48:57.427097Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 46,
                    "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": [
                    "CDHF2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3036",
                "gene_name": "desmocollin 2",
                "omim_gene": [
                    "125645"
                ],
                "alias_name": null,
                "gene_symbol": "DSC2",
                "hgnc_symbol": "DSC2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "18:28645940-28682378",
                            "ensembl_id": "ENSG00000134755"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "18:31058840-31102415",
                            "ensembl_id": "ENSG00000134755"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-05-29"
            },
            "entity_type": "gene",
            "entity_name": "DSC2",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "18957847"
            ],
            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN",
                "Eligibility statement prior genetic testing",
                " UKGTN"
            ],
            "phenotypes": [
                "Striate keratoderma with woolly hair",
                "Arrhythmogenic right ventricular dysplasia 11, 610476",
                "Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, 610476"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 215,
                "hash_id": "562f5e7822c1fc582756e3bb",
                "name": "Palmoplantar keratoderma and erythrokeratodermas",
                "disease_group": "Dermatological disorders",
                "disease_sub_group": "Keratodermas",
                "status": "public",
                "version": "1.17",
                "version_created": "2020-01-07T16:48:57.427097Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 46,
                    "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": [
                    "DRP1",
                    "DVLP",
                    "HDYNIV",
                    "DYMPLE",
                    "VPS1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2973",
                "gene_name": "dynamin 1 like",
                "omim_gene": [
                    "603850"
                ],
                "alias_name": null,
                "gene_symbol": "DNM1L",
                "hgnc_symbol": "DNM1L",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:32832134-32898486",
                            "ensembl_id": "ENSG00000087470"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:32679200-32745650",
                            "ensembl_id": "ENSG00000087470"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-04-12"
            },
            "entity_type": "gene",
            "entity_name": "DNM1L",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "27328748",
                "27145208",
                "26992161",
                "26825290"
            ],
            "evidence": [
                "Expert Review Green",
                "Emory Genetics Laboratory",
                "Illumina TruGenome Clinical Sequencing Services",
                "Other",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission\t614388"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 114,
                "hash_id": "57b6f5058f6203767a308772",
                "name": "Peroxisomal disorders",
                "disease_group": "Metabolic disorders",
                "disease_sub_group": "Peroxisomal disorders",
                "status": "public",
                "version": "1.6",
                "version_created": "2017-11-05T02:37:20.056128Z",
                "relevant_disorders": [
                    "Other peroxisomal disorders",
                    "Peroxisomal biogenesis disorders"
                ],
                "stats": {
                    "number_of_genes": 38,
                    "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": [
                    "PAFAH",
                    "LDL-PLA2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9040",
                "gene_name": "phospholipase A2 group VII",
                "omim_gene": [
                    "601690"
                ],
                "alias_name": null,
                "gene_symbol": "PLA2G7",
                "hgnc_symbol": "PLA2G7",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:46671938-46703430",
                            "ensembl_id": "ENSG00000146070"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:46704201-46735693",
                            "ensembl_id": "ENSG00000146070"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-09-20"
            },
            "entity_type": "gene",
            "entity_name": "PLA2G7",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Platelet-activating factor acetylhydrolase deficiency, 614278{Asthma, susceptibility to}, 600807{Atopy, susceptibility to}, 147050"
            ],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 62,
                "hash_id": "553f95d0bb5a1616e5ed45c1",
                "name": "Severe multi-system atopic disease with high IgE",
                "disease_group": "Dermatological disorders",
                "disease_sub_group": "Atopy",
                "status": "public",
                "version": "1.7",
                "version_created": "2017-11-05T02:37:19.949470Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 8,
                    "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": [
                    "TTF-2",
                    "HFKH4"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3806",
                "gene_name": "forkhead box E1",
                "omim_gene": [
                    "602617"
                ],
                "alias_name": [
                    "thyroid transcription factor 2"
                ],
                "gene_symbol": "FOXE1",
                "hgnc_symbol": "FOXE1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:100615536-100618986",
                            "ensembl_id": "ENSG00000178919"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:97853254-97856715",
                            "ensembl_id": "ENSG00000178919"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-02-14"
            },
            "entity_type": "gene",
            "entity_name": "FOXE1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "9697705",
                "24219130",
                "20453517"
            ],
            "evidence": [
                "Expert Review Green",
                "Emory Genetics Laboratory",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN",
                "Literature"
            ],
            "phenotypes": [
                "Bamforth-Lazarus syndrome\t241850"
            ],
            "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
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "MPS-1",
                    "MPS1",
                    "S27"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10416",
                "gene_name": "ribosomal protein S27",
                "omim_gene": [
                    "603702"
                ],
                "alias_name": [
                    "metallopanstimulin 1"
                ],
                "gene_symbol": "RPS27",
                "hgnc_symbol": "RPS27",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:153963235-153964626",
                            "ensembl_id": "ENSG00000177954"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:153990759-153992150",
                            "ensembl_id": "ENSG00000177954"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-06-05"
            },
            "entity_type": "gene",
            "entity_name": "RPS27",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "28297620"
            ],
            "evidence": [
                "Expert Review Green",
                "Curated sources"
            ],
            "phenotypes": [
                "Class: BM failure syndrome (typ AR)",
                "Diamond Blackfan Anemia",
                "MDS, AML",
                "Osteosarcoma, soft tissue sarcomas"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 407,
                "hash_id": null,
                "name": "Haematological malignancies for rare disease",
                "disease_group": "Tumour syndromes",
                "disease_sub_group": "Tumour syndromes",
                "status": "public",
                "version": "1.1",
                "version_created": "2019-06-20T15:11:49.421852Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 89,
                    "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": [
                    "MAD2B",
                    "REV7",
                    "POLZ2",
                    "FANCV"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6764",
                "gene_name": "mitotic arrest deficient 2 like 2",
                "omim_gene": [
                    "604094"
                ],
                "alias_name": [
                    "mitotic arrest deficient homolog-like 2",
                    "polymerase (DNA-directed), zeta 2, accessory subunit"
                ],
                "gene_symbol": "MAD2L2",
                "hgnc_symbol": "MAD2L2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:11734537-11751707",
                            "ensembl_id": "ENSG00000116670"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:11674480-11691650",
                            "ensembl_id": "ENSG00000116670"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-06-22"
            },
            "entity_type": "gene",
            "entity_name": "MAD2L2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "28297620"
            ],
            "evidence": [
                "Curated sources",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Class: BM failure FA, (typ AR)",
                "Fanconi anemia",
                "MDS",
                "AML",
                "Squamous cell carcinoma: oral, GI, vulvar"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 407,
                "hash_id": null,
                "name": "Haematological malignancies for rare disease",
                "disease_group": "Tumour syndromes",
                "disease_sub_group": "Tumour syndromes",
                "status": "public",
                "version": "1.1",
                "version_created": "2019-06-20T15:11:49.421852Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 89,
                    "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": [
                    "KIAA0526",
                    "LCB2",
                    "LCB2A",
                    "hLCB2a"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11278",
                "gene_name": "serine palmitoyltransferase long chain base subunit 2",
                "omim_gene": [
                    "605713"
                ],
                "alias_name": null,
                "gene_symbol": "SPTLC2",
                "hgnc_symbol": "SPTLC2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:77972340-78083116",
                            "ensembl_id": "ENSG00000100596"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "14:77505997-77616773",
                            "ensembl_id": "ENSG00000100596"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-08-01"
            },
            "entity_type": "gene",
            "entity_name": "SPTLC2",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "20920666",
                "27025386",
                "26573920",
                "23658386"
            ],
            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services",
                "Emory Genetics Laboratory"
            ],
            "phenotypes": [
                "Neuropathy, hereditary sensory and autonomic, type IC\t613640"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 7,
                "hash_id": "5763f1d68f620350a22bccdc",
                "name": "Familial dysautonomia",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.9",
                "version_created": "2020-12-18T15:34:47.161531Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 22,
                    "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": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12399",
                "gene_name": "myotilin",
                "omim_gene": [
                    "604103"
                ],
                "alias_name": null,
                "gene_symbol": "MYOT",
                "hgnc_symbol": "MYOT",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:137203480-137223540",
                            "ensembl_id": "ENSG00000120729"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:137867791-137887851",
                            "ensembl_id": "ENSG00000120729"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-09-07"
            },
            "entity_type": "gene",
            "entity_name": "MYOT",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "15111675"
            ],
            "evidence": [
                "Expert Review Green",
                "Eligibility statement prior genetic testing"
            ],
            "phenotypes": [
                "Myopathy, myofibrillar 3, 609200"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 235,
                "hash_id": "55b7a0bb22c1fc05fd2345d1",
                "name": "Distal myopathies",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Neuromuscular disorders",
                "status": "public",
                "version": "1.29",
                "version_created": "2021-01-12T22:38:00.318153Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 30,
                    "number_of_strs": 2,
                    "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."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "5-HT2A"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:5293",
                "gene_name": "5-hydroxytryptamine receptor 2A",
                "omim_gene": [
                    "182135"
                ],
                "alias_name": null,
                "gene_symbol": "HTR2A",
                "hgnc_symbol": "HTR2A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "13:47405685-47471169",
                            "ensembl_id": "ENSG00000102468"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "13:46831550-46897076",
                            "ensembl_id": "ENSG00000102468"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1990-08-03"
            },
            "entity_type": "gene",
            "entity_name": "HTR2A",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "OMIM"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 111,
                "hash_id": "58c7fd7f8f6203413360f1b6",
                "name": "COVID-19 research",
                "disease_group": "Viral research",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.73",
                "version_created": "2021-01-20T16:04:21.982539Z",
                "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:9071",
                "gene_name": "plasminogen",
                "omim_gene": [
                    "173350"
                ],
                "alias_name": null,
                "gene_symbol": "PLG",
                "hgnc_symbol": "PLG",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:161123270-161174347",
                            "ensembl_id": "ENSG00000122194"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:160702238-160753315",
                            "ensembl_id": "ENSG00000122194"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "PLG",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "https://doi.org/10.1101/2020.05.13.093690"
            ],
            "evidence": [
                "Literature"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "Unknown",
            "tags": [],
            "panel": {
                "id": 111,
                "hash_id": "58c7fd7f8f6203413360f1b6",
                "name": "COVID-19 research",
                "disease_group": "Viral research",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.73",
                "version_created": "2021-01-20T16:04:21.982539Z",
                "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": [
                    "KIAA0441",
                    "BIF1",
                    "PATZ2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21143",
                "gene_name": "zinc finger and BTB domain containing 24",
                "omim_gene": [
                    "614064"
                ],
                "alias_name": [
                    "POZ (BTB) and AT hook containing zinc finger 2"
                ],
                "gene_symbol": "ZBTB24",
                "hgnc_symbol": "ZBTB24",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:109783797-109804440",
                            "ensembl_id": "ENSG00000112365"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:109462594-109483237",
                            "ensembl_id": "ENSG00000112365"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-04-16"
            },
            "entity_type": "gene",
            "entity_name": "ZBTB24",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "21906047",
                "21596365"
            ],
            "evidence": [
                "IUIS Classification February 2018",
                "London North GLH",
                "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"
            ],
            "phenotypes": [
                "Combined immunodeficiencies with associated or syndromic features",
                "Immunodeficiency-centromeric instability-facial anomalies syndrome-2 614069",
                "Immunodeficiency centromeric instability facial anomalies syndrome (ICF)",
                "Facial dysmorphic features, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies,  multiradial configurations of chromosomes 1, 9, 16"
            ],
            "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": "1.73",
                "version_created": "2021-01-20T16:04:21.982539Z",
                "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": [
                    "ACHP",
                    "FLJ11665",
                    "ZRS"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13243",
                "gene_name": "limb development membrane protein 1",
                "omim_gene": [
                    "605522"
                ],
                "alias_name": null,
                "gene_symbol": "LMBR1",
                "hgnc_symbol": "LMBR1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:156461646-156685924",
                            "ensembl_id": "ENSG00000105983"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:156668946-156893230",
                            "ensembl_id": "ENSG00000105983"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-07-25"
            },
            "entity_type": "gene",
            "entity_name": "LMBR1",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Emory Genetics Laboratory"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 101,
                "hash_id": "553f9598bb5a1616e5ed45ae",
                "name": "VACTERL-like phenotypes",
                "disease_group": "Dysmorphic and congenital abnormality syndromes",
                "disease_sub_group": "Limb disorders",
                "status": "public",
                "version": "1.27",
                "version_created": "2020-09-01T10:41:06.201531Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 59,
                    "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": [
                    "bA186O14.3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:23452",
                "gene_name": "lipase family member N",
                "omim_gene": [
                    "613924"
                ],
                "alias_name": null,
                "gene_symbol": "LIPN",
                "hgnc_symbol": "LIPN",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:90521163-90537999",
                            "ensembl_id": "ENSG00000204020"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:88761406-88778242",
                            "ensembl_id": "ENSG00000204020"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-02-27"
            },
            "entity_type": "gene",
            "entity_name": "LIPN",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "21439540"
            ],
            "evidence": [
                "Expert Review Red"
            ],
            "phenotypes": [
                "Ichthyosis, congenital, autosomal recessive 8, 613943"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 555,
                "hash_id": null,
                "name": "Ichthyosis and erythrokeratoderma",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.4",
                "version_created": "2020-10-15T19:12:43.003505Z",
                "relevant_disorders": [
                    "R165"
                ],
                "stats": {
                    "number_of_genes": 67,
                    "number_of_strs": 0,
                    "number_of_regions": 1
                },
                "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": [
                    "FLJ34512"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14153",
                "gene_name": "coiled-coil domain containing 78",
                "omim_gene": [
                    "614666"
                ],
                "alias_name": null,
                "gene_symbol": "CCDC78",
                "hgnc_symbol": "CCDC78",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:772582-776954",
                            "ensembl_id": "ENSG00000162004"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:722582-726954",
                            "ensembl_id": "ENSG00000162004"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-02-20"
            },
            "entity_type": "gene",
            "entity_name": "CCDC78",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "22818856"
            ],
            "evidence": [
                "Expert Review Amber"
            ],
            "phenotypes": [
                "Myopathy, centronuclear, 4, 614807"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 465,
                "hash_id": null,
                "name": "Neuromuscular disorders",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "5.92",
                "version_created": "2021-01-19T18:03:05.596436Z",
                "relevant_disorders": [
                    "Other rare neuromuscular disorders",
                    "R381"
                ],
                "stats": {
                    "number_of_genes": 428,
                    "number_of_strs": 6,
                    "number_of_regions": 8
                },
                "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": "Super Panel",
                        "slug": "superpanel",
                        "description": "Superpanel"
                    },
                    {
                        "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": [
                    "HK33",
                    "D1S2223E",
                    "PMP1",
                    "PMPI",
                    "PXMP1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9713",
                "gene_name": "peroxisomal biogenesis factor 19",
                "omim_gene": [
                    "600279"
                ],
                "alias_name": [
                    "housekeeping gene, 33kD"
                ],
                "gene_symbol": "PEX19",
                "hgnc_symbol": "PEX19",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:160246602-160256138",
                            "ensembl_id": "ENSG00000162735"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:160276812-160286348",
                            "ensembl_id": "ENSG00000162735"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-03-19"
            },
            "entity_type": "gene",
            "entity_name": "PEX19",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Amber"
            ],
            "phenotypes": [
                "Peroxisome biogenesis disorder 12A (Zellweger)"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 476,
                "hash_id": null,
                "name": "White matter disorders and cerebral calcification - narrow panel",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.32",
                "version_created": "2021-01-25T17:55:20.890693Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 221,
                    "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."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "NPHP7"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29450",
                "gene_name": "GLIS family zinc finger 2",
                "omim_gene": [
                    "608539"
                ],
                "alias_name": [
                    "nephrocystin-7"
                ],
                "gene_symbol": "GLIS2",
                "hgnc_symbol": "GLIS2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:4364762-4389598",
                            "ensembl_id": "ENSG00000126603"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:4314761-4339597",
                            "ensembl_id": "ENSG00000126603"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-07-16"
            },
            "entity_type": "gene",
            "entity_name": "GLIS2",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Emory Genetics Laboratory"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 122,
                "hash_id": "554a0ac9bb5a167e4ccd1ec2",
                "name": "Thoracic dystrophies",
                "disease_group": "Skeletal disorders",
                "disease_sub_group": "Skeletal dysplasias",
                "status": "public",
                "version": "1.9",
                "version_created": "2021-01-14T17:17:10.860898Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 133,
                    "number_of_strs": 1,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "HD4ST",
                    "D4ST-1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:24464",
                "gene_name": "carbohydrate sulfotransferase 14",
                "omim_gene": [
                    "608429"
                ],
                "alias_name": null,
                "gene_symbol": "CHST14",
                "hgnc_symbol": "CHST14",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:40763160-40765353",
                            "ensembl_id": "ENSG00000169105"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:40470998-40474571",
                            "ensembl_id": "ENSG00000169105"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-03-27"
            },
            "entity_type": "gene",
            "entity_name": "CHST14",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "NHS GMS"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 105,
                "hash_id": "572c908e8f62036eed0a39c8",
                "name": "Pneumothorax - familial",
                "disease_group": "Respiratory disorders",
                "disease_sub_group": "Structural lung disorders",
                "status": "public",
                "version": "2.20",
                "version_created": "2020-03-04T11:06:52.456281Z",
                "relevant_disorders": [
                    "Familial Pneumothorax",
                    "Familial Primary Spontaneous Pneumothorax",
                    "R190"
                ],
                "stats": {
                    "number_of_genes": 35,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    },
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    },
                    {
                        "name": "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": [
                    "MMAC1",
                    "TEP1",
                    "PTEN1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9588",
                "gene_name": "phosphatase and tensin homolog",
                "omim_gene": [
                    "601728"
                ],
                "alias_name": [
                    "mutated in multiple advanced cancers 1"
                ],
                "gene_symbol": "PTEN",
                "hgnc_symbol": "PTEN",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:89622870-89731687",
                            "ensembl_id": "ENSG00000171862"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:87863113-87971930",
                            "ensembl_id": "ENSG00000171862"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-04-21"
            },
            "entity_type": "gene",
            "entity_name": "PTEN",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "20301661"
            ],
            "evidence": [
                "NHS GMS",
                "Expert List",
                "Expert Review",
                "Expert Review Green",
                "Emory Genetics Laboratory"
            ],
            "phenotypes": [
                "PTEN hamartoma tumor syndrome",
                "Bannayan-Riley-Ruvalcaba syndrome\t153480\tAD",
                "Cowden syndrome 1\t158350"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 254,
                "hash_id": "591444928f620348d4b20c16",
                "name": "GI tract tumours",
                "disease_group": "Tumour syndromes",
                "disease_sub_group": "GI tract",
                "status": "public",
                "version": "1.18",
                "version_created": "2019-08-05T14:17:21.117330Z",
                "relevant_disorders": [
                    "GI tract tumours",
                    "Familial colon cancer",
                    "Multiple bowel polyps",
                    "Peutz-Jeghers syndrome",
                    "GI tract",
                    "Inherited colorectal cancer (with or without polyposis)"
                ],
                "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": [
                    "TBX3-ISO",
                    "XHL"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11602",
                "gene_name": "T-box 3",
                "omim_gene": [
                    "601621"
                ],
                "alias_name": null,
                "gene_symbol": "TBX3",
                "hgnc_symbol": "TBX3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:115108059-115121969",
                            "ensembl_id": "ENSG00000135111"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:114670254-114684164",
                            "ensembl_id": "ENSG00000135111"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-06-18"
            },
            "entity_type": "gene",
            "entity_name": "TBX3",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [],
            "evidence": [
                "Victorian Clinical Genetics Services",
                "Emory Genetics Laboratory",
                "Expert list",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN",
                "Expert Review Green",
                "London South East RGC GSTT",
                "Viapath"
            ],
            "phenotypes": [
                "Ulnar-mammary syndrome 181450",
                "Polydactyly",
                "Ulnar-mammary syndrome, 181450",
                "Radial Ray abnormality",
                "Hypoplastic/absent/deformed radius"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 384,
                "hash_id": null,
                "name": "Limb disorders",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "2.32",
                "version_created": "2021-01-21T17:48:24.679187Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 247,
                    "number_of_strs": 0,
                    "number_of_regions": 1
                },
                "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": [
                    "PC-1",
                    "PCA1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3356",
                "gene_name": "ectonucleotide pyrophosphatase/phosphodiesterase 1",
                "omim_gene": [
                    "173335"
                ],
                "alias_name": null,
                "gene_symbol": "ENPP1",
                "hgnc_symbol": "ENPP1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:132129156-132216295",
                            "ensembl_id": "ENSG00000197594"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:131808016-131895155",
                            "ensembl_id": "ENSG00000197594"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-12-08"
            },
            "entity_type": "gene",
            "entity_name": "ENPP1",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Removed",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Ossification of posterior longitudinal ligament of spine, 602475{Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853{Obesity, susceptibility to}, 601665Arterial calcification, generalized, of infancy, 1, 208000Hypophos"
            ],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 152,
                "hash_id": "553f9745bb5a1616e5ed45e9",
                "name": "Familial diabetes",
                "disease_group": "Endocrine disorders",
                "disease_sub_group": "Disorders of unusual phenotypes",
                "status": "public",
                "version": "1.38",
                "version_created": "2019-06-20T15:15:02.453936Z",
                "relevant_disorders": [
                    "Familial young-onset non-insulin-dependent diabetes"
                ],
                "stats": {
                    "number_of_genes": 56,
                    "number_of_strs": 0,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "TRT",
                    "TP2",
                    "TCS1",
                    "hEST2",
                    "EST2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11730",
                "gene_name": "telomerase reverse transcriptase",
                "omim_gene": [
                    "187270"
                ],
                "alias_name": null,
                "gene_symbol": "TERT",
                "hgnc_symbol": "TERT",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:1253262-1295184",
                            "ensembl_id": "ENSG00000164362"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:1253147-1295069",
                            "ensembl_id": "ENSG00000164362"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-01-21"
            },
            "entity_type": "gene",
            "entity_name": "TERT",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "21436073",
                "19936245",
                "21483807"
            ],
            "evidence": [
                "Expert Review Amber",
                "NHS GMS",
                "NHS GMS",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "phenotypes": [
                "{Dyskeratosis congenita, autosomal dominant 2} (613989)",
                "{Dyskeratosis congenita, autosomal recessive 4} (613989)"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 653,
                "hash_id": null,
                "name": "Polycystic liver disease interim",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.7",
                "version_created": "2021-01-14T17:18:44.273541Z",
                "relevant_disorders": [
                    "R173"
                ],
                "stats": {
                    "number_of_genes": 20,
                    "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:493",
                "gene_name": "ankyrin 2",
                "omim_gene": [
                    "106410"
                ],
                "alias_name": null,
                "gene_symbol": "ANK2",
                "hgnc_symbol": "ANK2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:113739265-114304896",
                            "ensembl_id": "ENSG00000145362"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:112818109-113383740",
                            "ensembl_id": "ENSG00000145362"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-06-04"
            },
            "entity_type": "gene",
            "entity_name": "ANK2",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "South West GLH",
                "Expert Review Red",
                "Expert list"
            ],
            "phenotypes": [
                "catecholaminergic polymorphic ventricular tachycardia"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 214,
                "hash_id": "55a3aac122c1fc6710839b7d",
                "name": "Catecholaminergic polymorphic VT",
                "disease_group": "Cardiovascular disorders",
                "disease_sub_group": "Cardiac arrhythmia",
                "status": "public",
                "version": "2.7",
                "version_created": "2020-12-24T14:39:50.941814Z",
                "relevant_disorders": [
                    "Catecholaminergic Polymorphic Ventricular Tachycardia",
                    "R129"
                ],
                "stats": {
                    "number_of_genes": 10,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    },
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    },
                    {
                        "name": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "C1IN",
                    "C1-INH",
                    "HAE1",
                    "HAE2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1228",
                "gene_name": "serpin family G member 1",
                "omim_gene": [
                    "606860"
                ],
                "alias_name": [
                    "plasma protease C1 inhibitor",
                    "angioedema, hereditary"
                ],
                "gene_symbol": "SERPING1",
                "hgnc_symbol": "SERPING1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:57364860-57382326",
                            "ensembl_id": "ENSG00000149131"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:57597387-57614853",
                            "ensembl_id": "ENSG00000149131"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "SERPING1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "1597123",
                "7883978"
            ],
            "evidence": [
                "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"
            ],
            "phenotypes": [
                "Angioedema, hereditary, types I and II 106100",
                "Hereditary Angioedema (C1inh)",
                "Complement component 4, partial deficiency of 120790",
                "Hereditary angioedema",
                "Complement Deficiencies"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 398,
                "hash_id": null,
                "name": "Primary immunodeficiency",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "2.392",
                "version_created": "2021-01-25T15:41:46.086251Z",
                "relevant_disorders": [
                    "Primary immunodeficiency disorders",
                    "A- or hypo-gammaglobulinaemia",
                    "Congenital neutropaenia",
                    "Agranulocytosis",
                    "Combined B and T cell defect",
                    "Inherited complement deficiency",
                    "SCID",
                    "Primary immune disorder",
                    "Primary immunodeficiency",
                    "A-gammaglobulinaemia",
                    "Agammaglobulinaemia",
                    "hypo-gammaglobulinaemia",
                    "hypogammaglobulinemia",
                    "immune deficiency syndromes",
                    "Severe combined immunodeficiency",
                    "Congenital neutopenia",
                    "Familial haemophagocytic lymphohistiocytic disorders",
                    "Familial hemophagocytic lymphohistiocytic disorders",
                    "PID",
                    "Sepsis",
                    "Disseminated non-tuberculous mycobacterial infection",
                    "R15"
                ],
                "stats": {
                    "number_of_genes": 488,
                    "number_of_strs": 0,
                    "number_of_regions": 2
                },
                "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": "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": [
                    "CD283"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11849",
                "gene_name": "toll like receptor 3",
                "omim_gene": [
                    "603029"
                ],
                "alias_name": null,
                "gene_symbol": "TLR3",
                "hgnc_symbol": "TLR3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:186990306-187009223",
                            "ensembl_id": "ENSG00000164342"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:186069152-186088069",
                            "ensembl_id": "ENSG00000164342"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-06-25"
            },
            "entity_type": "gene",
            "entity_name": "TLR3",
            "confidence_level": "3",
            "penetrance": "Incomplete",
            "mode_of_pathogenicity": "Other - please provide details in the comments",
            "publications": [
                "21911422",
                "25339207",
                "25339207",
                "28368532"
            ],
            "evidence": [
                "NHS GMS",
                "North West GLH",
                "London North GLH",
                "Expert Review Green",
                "IUIS Classification February 2018",
                "Victorian Clinical Genetics Services",
                "Other"
            ],
            "phenotypes": [
                "Herpes simplex encephalitis, susceptibility to, 2",
                "Herpetic encephalitis (HSE)",
                "Herpes simplex virus 1 encephalitis (incomplete clinical penetrance for all etiologies listed here)",
                "Defects in Intrinsic and Innate Immunity"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [
                "missense"
            ],
            "panel": {
                "id": 398,
                "hash_id": null,
                "name": "Primary immunodeficiency",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "2.392",
                "version_created": "2021-01-25T15:41:46.086251Z",
                "relevant_disorders": [
                    "Primary immunodeficiency disorders",
                    "A- or hypo-gammaglobulinaemia",
                    "Congenital neutropaenia",
                    "Agranulocytosis",
                    "Combined B and T cell defect",
                    "Inherited complement deficiency",
                    "SCID",
                    "Primary immune disorder",
                    "Primary immunodeficiency",
                    "A-gammaglobulinaemia",
                    "Agammaglobulinaemia",
                    "hypo-gammaglobulinaemia",
                    "hypogammaglobulinemia",
                    "immune deficiency syndromes",
                    "Severe combined immunodeficiency",
                    "Congenital neutopenia",
                    "Familial haemophagocytic lymphohistiocytic disorders",
                    "Familial hemophagocytic lymphohistiocytic disorders",
                    "PID",
                    "Sepsis",
                    "Disseminated non-tuberculous mycobacterial infection",
                    "R15"
                ],
                "stats": {
                    "number_of_genes": 488,
                    "number_of_strs": 0,
                    "number_of_regions": 2
                },
                "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": "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:1767",
                "gene_name": "cadherin 8",
                "omim_gene": [
                    "603008"
                ],
                "alias_name": null,
                "gene_symbol": "CDH8",
                "hgnc_symbol": "CDH8",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:61681146-62070939",
                            "ensembl_id": "ENSG00000150394"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:61647242-62037035",
                            "ensembl_id": "ENSG00000150394"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-02-10"
            },
            "entity_type": "gene",
            "entity_name": "CDH8",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "SFARI"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 657,
                "hash_id": null,
                "name": "Autism",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "0.20",
                "version_created": "2021-01-15T12:07:45.898241Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 735,
                    "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": [
                    "CGI-63",
                    "NRBF1",
                    "FASN2B",
                    "ETR1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:19691",
                "gene_name": "mitochondrial trans-2-enoyl-CoA reductase",
                "omim_gene": [
                    "608205"
                ],
                "alias_name": [
                    "nuclear receptor binding factor 1",
                    "mitochondrial 2-enoyl thioester reductase"
                ],
                "gene_symbol": "MECR",
                "hgnc_symbol": "MECR",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:29519385-29557454",
                            "ensembl_id": "ENSG00000116353"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:29192873-29230942",
                            "ensembl_id": "ENSG00000116353"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-05-24"
            },
            "entity_type": "gene",
            "entity_name": "MECR",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "27817865"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities\t617282"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 180,
                "hash_id": "56ba024322c1fc5025762b4d",
                "name": "Structural basal ganglia disorders",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.17",
                "version_created": "2019-09-04T09:40:29.765078Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 76,
                    "number_of_strs": 1,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "PMK",
                    "PMKA",
                    "HUMPMKI"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9141",
                "gene_name": "phosphomevalonate kinase",
                "omim_gene": [
                    "607622"
                ],
                "alias_name": null,
                "gene_symbol": "PMVK",
                "hgnc_symbol": "PMVK",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:154897210-154909467",
                            "ensembl_id": "ENSG00000163344"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:154924734-154936991",
                            "ensembl_id": "ENSG00000163344"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-07-09"
            },
            "entity_type": "gene",
            "entity_name": "PMVK",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "30942823"
            ],
            "evidence": [
                "Expert Review Amber"
            ],
            "phenotypes": [
                "Linear porokeratosis"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 564,
                "hash_id": null,
                "name": "Mosaic skin disorders - deep sequencing",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.5",
                "version_created": "2021-01-06T15:23:02.528142Z",
                "relevant_disorders": [
                    "R327"
                ],
                "stats": {
                    "number_of_genes": 46,
                    "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."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "HTX",
                    "ZNF203"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12874",
                "gene_name": "Zic family member 3",
                "omim_gene": [
                    "300265"
                ],
                "alias_name": null,
                "gene_symbol": "ZIC3",
                "hgnc_symbol": "ZIC3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:136648301-136659850",
                            "ensembl_id": "ENSG00000156925"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:137566142-137577691",
                            "ensembl_id": "ENSG00000156925"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-11-16"
            },
            "entity_type": "gene",
            "entity_name": "ZIC3",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "9354794"
            ],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Literature",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "phenotypes": [
                "x-linked Heterotaxy syndrome, Visceral, 1",
                "Heterotaxy, visceral, 1, X-linked 306955",
                "Visceral Heterotaxy",
                "Heterotaxy, Visceral, 1, X-Linked"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "tags": [],
            "panel": {
                "id": 212,
                "hash_id": "583c128f8f62036f70db8d29",
                "name": "Familial non syndromic congenital heart disease",
                "disease_group": "Cardiovascular disorders",
                "disease_sub_group": "Congenital heart disease",
                "status": "public",
                "version": "1.54",
                "version_created": "2021-01-11T17:02:30.188954Z",
                "relevant_disorders": [
                    "Fallots tetralogy",
                    "Hypoplastic Left Heart Syndrome",
                    "Left Ventricular Outflow Tract obstruction disorders",
                    "Pulmonary atresia",
                    "Transposition of the great vessels",
                    "Familial non-syndromic congenital heart disease",
                    "Familial congenital heart disease",
                    "Congenital heart disease",
                    "Syndromic congenital heart disease",
                    "Isomerism and laterality disorders"
                ],
                "stats": {
                    "number_of_genes": 50,
                    "number_of_strs": 0,
                    "number_of_regions": 8
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FAG"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3588",
                "gene_name": "Fanconi anemia complementation group G",
                "omim_gene": [
                    "602956"
                ],
                "alias_name": [
                    "DNA repair protein XRCC9",
                    "X-ray repair, complementing defective, in Chinese hamster, 9",
                    "X-ray repair complementing defective repair in Chinese hamster cells 9"
                ],
                "gene_symbol": "FANCG",
                "hgnc_symbol": "FANCG",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:35073832-35080013",
                            "ensembl_id": "ENSG00000221829"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:35073835-35080016",
                            "ensembl_id": "ENSG00000221829"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-08-26"
            },
            "entity_type": "gene",
            "entity_name": "FANCG",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "19686080"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Fanconi Anemia"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 245,
                "hash_id": "595ce30f8f62036352471f39",
                "name": "Adult solid tumours cancer susceptibility",
                "disease_group": "Cancer Programme",
                "disease_sub_group": "Pertinent cancer susceptibility gene panel",
                "status": "public",
                "version": "2.7",
                "version_created": "2020-12-02T12:44:27.493832Z",
                "relevant_disorders": [
                    "Carcinoma of unknown primary",
                    "Other",
                    "Adult solid tumours pertinent cancer susceptibility"
                ],
                "stats": {
                    "number_of_genes": 105,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Cancer Germline 100K",
                        "slug": "cancer-germline-100k",
                        "description": "Cancer Germline 100K"
                    },
                    {
                        "name": "GMS Cancer Germline Virtual",
                        "slug": "gms-cancer-germline-virtual",
                        "description": "This is a panel used for WGS germline analysis for the GMS."
                    },
                    {
                        "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": [
                    "HD4ST",
                    "D4ST-1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:24464",
                "gene_name": "carbohydrate sulfotransferase 14",
                "omim_gene": [
                    "608429"
                ],
                "alias_name": null,
                "gene_symbol": "CHST14",
                "hgnc_symbol": "CHST14",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:40763160-40765353",
                            "ensembl_id": "ENSG00000169105"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:40470998-40474571",
                            "ensembl_id": "ENSG00000169105"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-03-27"
            },
            "entity_type": "gene",
            "entity_name": "CHST14",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "South West GLH",
                "Expert list"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 1,
                "hash_id": "5596735822c1fc4f7d26e96d",
                "name": "Thoracic aortic aneurysm or dissection",
                "disease_group": "Cardiovascular disorders",
                "disease_sub_group": "Connective tissue disorders and aortopathies",
                "status": "public",
                "version": "1.112",
                "version_created": "2020-01-13T11:04:38.540562Z",
                "relevant_disorders": [
                    "Familial retinal arteriolar tortuosity",
                    "FTAAD",
                    "Familial Thoracic Aortic Aneurysm Disease"
                ],
                "stats": {
                    "number_of_genes": 63,
                    "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": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12843",
                "gene_name": "YME1 like 1 ATPase",
                "omim_gene": [
                    "607472"
                ],
                "alias_name": null,
                "gene_symbol": "YME1L1",
                "hgnc_symbol": "YME1L1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:27399383-27444195",
                            "ensembl_id": "ENSG00000136758"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:27110112-27155266",
                            "ensembl_id": "ENSG00000136758"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-04-15"
            },
            "entity_type": "gene",
            "entity_name": "YME1L1",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "30544562"
            ],
            "evidence": [
                "Expert Review Red",
                "London North GLH"
            ],
            "phenotypes": [
                "Optic atrophy 617302",
                "sensorineural hearing impairment",
                "ataxia",
                "other CNS symptoms (OPA11)"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 186,
                "hash_id": "553f95e2bb5a1616e5ed45c8",
                "name": "Optic neuropathy",
                "disease_group": "Ophthalmological disorders",
                "disease_sub_group": "Posterior segment abnormalities",
                "status": "public",
                "version": "2.29",
                "version_created": "2021-01-06T13:38:37.735215Z",
                "relevant_disorders": [
                    "Inherited optic neuropathies",
                    "R41",
                    "R42.2"
                ],
                "stats": {
                    "number_of_genes": 55,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    },
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    },
                    {
                        "name": "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:10896",
                "gene_name": "SKI proto-oncogene",
                "omim_gene": [
                    "164780"
                ],
                "alias_name": null,
                "gene_symbol": "SKI",
                "hgnc_symbol": "SKI",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:2160134-2241558",
                            "ensembl_id": "ENSG00000157933"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:2228695-2310119",
                            "ensembl_id": "ENSG00000157933"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "SKI",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "15884042",
                "23023332"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "Expert list"
            ],
            "phenotypes": [
                "Shprintzen-Goldberg syndrome 182212"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 258,
                "hash_id": "55b75d5b22c1fc05fd2345c9",
                "name": "Arthrogryposis",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Neuromuscular disorders",
                "status": "public",
                "version": "3.52",
                "version_created": "2021-01-21T13:28:56.294450Z",
                "relevant_disorders": [
                    "Arthrogrythsis",
                    "R83"
                ],
                "stats": {
                    "number_of_genes": 283,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "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": "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:6482",
                "gene_name": "laminin subunit alpha 2",
                "omim_gene": [
                    "156225"
                ],
                "alias_name": [
                    "merosin",
                    "congenital muscular dystrophy"
                ],
                "gene_symbol": "LAMA2",
                "hgnc_symbol": "LAMA2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:129204342-129837714",
                            "ensembl_id": "ENSG00000196569"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:128883141-129516569",
                            "ensembl_id": "ENSG00000196569"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-05-06"
            },
            "entity_type": "gene",
            "entity_name": "LAMA2",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services",
                "Emory Genetics Laboratory",
                "UKGTN",
                "Expert list"
            ],
            "phenotypes": [
                "Congenital Muscular Dystrophy, LAMA2-related",
                "Muscular dystrophy, congenital merosin-deficient, 607855"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 258,
                "hash_id": "55b75d5b22c1fc05fd2345c9",
                "name": "Arthrogryposis",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Neuromuscular disorders",
                "status": "public",
                "version": "3.52",
                "version_created": "2021-01-21T13:28:56.294450Z",
                "relevant_disorders": [
                    "Arthrogrythsis",
                    "R83"
                ],
                "stats": {
                    "number_of_genes": 283,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "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": "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": [
                    "MGC27034",
                    "TRM10"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:28403",
                "gene_name": "tRNA methyltransferase 10A",
                "omim_gene": [
                    "616013"
                ],
                "alias_name": null,
                "gene_symbol": "TRMT10A",
                "hgnc_symbol": "TRMT10A",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:100467866-100485189",
                            "ensembl_id": "ENSG00000145331"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:99546709-99564032",
                            "ensembl_id": "ENSG00000145331"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2012-06-28"
            },
            "entity_type": "gene",
            "entity_name": "TRMT10A",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "24204302",
                "25053765",
                "26297882",
                "26526202",
                "26535115"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Other"
            ],
            "phenotypes": [
                "Microcephaly, short stature, and impaired glucose metabolism 1",
                "616033",
                "MSSGM1",
                "primary microcephaly"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 162,
                "hash_id": "568f860222c1fc1c79ca1769",
                "name": "Severe microcephaly",
                "disease_group": "Dysmorphic and congenital abnormality syndromes",
                "disease_sub_group": "DNA repair disorders",
                "status": "public",
                "version": "2.80",
                "version_created": "2021-01-22T17:07:38.460893Z",
                "relevant_disorders": [
                    "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
                    "Severe microcephaly",
                    "R88"
                ],
                "stats": {
                    "number_of_genes": 199,
                    "number_of_strs": 0,
                    "number_of_regions": 5
                },
                "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": "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": [
                    "FLJ10925"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25604",
                "gene_name": "chromosome 7 open reading frame 43",
                "omim_gene": null,
                "alias_name": null,
                "gene_symbol": "C7orf43",
                "hgnc_symbol": "C7orf43",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:99752043-99756338",
                            "ensembl_id": "ENSG00000146826"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:100154420-100158715",
                            "ensembl_id": "ENSG00000146826"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-08-08"
            },
            "entity_type": "gene",
            "entity_name": "C7orf43",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "30715179"
            ],
            "evidence": [
                "Expert Review Amber",
                "Literature"
            ],
            "phenotypes": [
                "Microcephaly 25, primary, autosomal recessive, OMIM:618351",
                "Microcephaly 25, primary, autosomal recessive, MONDO:0032694"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "new-gene-name"
            ],
            "panel": {
                "id": 162,
                "hash_id": "568f860222c1fc1c79ca1769",
                "name": "Severe microcephaly",
                "disease_group": "Dysmorphic and congenital abnormality syndromes",
                "disease_sub_group": "DNA repair disorders",
                "status": "public",
                "version": "2.80",
                "version_created": "2021-01-22T17:07:38.460893Z",
                "relevant_disorders": [
                    "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
                    "Severe microcephaly",
                    "R88"
                ],
                "stats": {
                    "number_of_genes": 199,
                    "number_of_strs": 0,
                    "number_of_regions": 5
                },
                "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": "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:20580",
                "gene_name": "cytochrome P450 family 2 subfamily R member 1",
                "omim_gene": [
                    "608713"
                ],
                "alias_name": null,
                "gene_symbol": "CYP2R1",
                "hgnc_symbol": "CYP2R1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:14899553-14913798",
                            "ensembl_id": "ENSG00000186104"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:14877440-14892252",
                            "ensembl_id": "ENSG00000186104"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-03-11"
            },
            "entity_type": "gene",
            "entity_name": "CYP2R1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "22855339",
                "15128933",
                "28548312",
                "25942481"
            ],
            "evidence": [
                "Expert Review Green",
                "Other"
            ],
            "phenotypes": [
                "Rickets due to defect in vitamin D 25-hydroxylation, 600081"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 309,
                "hash_id": "5693952f22c1fc251660fb1e",
                "name": "Skeletal dysplasia",
                "disease_group": "Skeletal disorders",
                "disease_sub_group": "Skeletal dysplasias",
                "status": "public",
                "version": "2.76",
                "version_created": "2021-01-21T16:45:45.930321Z",
                "relevant_disorders": [
                    "Unexplained skeletal dysplasia",
                    "Skeletal dysplasia",
                    "R104"
                ],
                "stats": {
                    "number_of_genes": 582,
                    "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": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3694",
                "gene_name": "fibrinogen gamma chain",
                "omim_gene": [
                    "134850"
                ],
                "alias_name": null,
                "gene_symbol": "FGG",
                "hgnc_symbol": "FGG",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:155525286-155534119",
                            "ensembl_id": "ENSG00000171557"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:154604134-154612967",
                            "ensembl_id": "ENSG00000171557"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "FGG",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "202400 Afibrinogenemia, congenital",
                "616004 Dysfibrinogenemia, congenital",
                "202400 Afibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital",
                "616004 Hypodysfibrinogenemia, congenital"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 516,
                "hash_id": null,
                "name": "Thrombophilia",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.4",
                "version_created": "2020-03-04T13:54:46.668395Z",
                "relevant_disorders": [
                    "R97"
                ],
                "stats": {
                    "number_of_genes": 20,
                    "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": [
                    "FLJ13154",
                    "HVSL1",
                    "Mpn1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25792",
                "gene_name": "U6 snRNA biogenesis phosphodiesterase 1",
                "omim_gene": [
                    "613276"
                ],
                "alias_name": [
                    "HVSL motif containing 1",
                    "poikiloderma with neutropenia",
                    "U six biogenesis 1",
                    "mutated in poikiloderma with neutropenia protein 1"
                ],
                "gene_symbol": "USB1",
                "hgnc_symbol": "USB1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:58033450-58055522",
                            "ensembl_id": "ENSG00000103005"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:57999546-58021618",
                            "ensembl_id": "ENSG00000103005"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2012-08-21"
            },
            "entity_type": "gene",
            "entity_name": "USB1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "20503306",
                "20004881"
            ],
            "evidence": [
                "Expert Review Green",
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "Poikiloderma with neutropenia, 604173",
                "604173 Poikiloderma with neutropenia",
                "Dyskeratosis congenita"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "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": [
                    "ARA267",
                    "FLJ22263",
                    "KMT3B"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14234",
                "gene_name": "nuclear receptor binding SET domain protein 1",
                "omim_gene": [
                    "606681"
                ],
                "alias_name": null,
                "gene_symbol": "NSD1",
                "hgnc_symbol": "NSD1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:176560026-176727216",
                            "ensembl_id": "ENSG00000165671"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:177133025-177300215",
                            "ensembl_id": "ENSG00000165671"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-02-25"
            },
            "entity_type": "gene",
            "entity_name": "NSD1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "23592277",
                "15942875"
            ],
            "evidence": [
                "Expert Review Green",
                "Emory Genetics Laboratory",
                "",
                "Illumina TruGenome Clinical Sequencing Services",
                "Eligibility statement exclusion criteria",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN"
            ],
            "phenotypes": [
                "Sotos syndrome 1, 117550",
                "Leukemia, acute myeloid, 601626 (1)",
                "Beckwith-Wiedemann syndrome, 130650",
                "Sotos Syndrome"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 38,
                "hash_id": "56fa8eb88f62030f36e3026b",
                "name": "Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders",
                "disease_group": "Growth disorders",
                "disease_sub_group": "Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders",
                "status": "public",
                "version": "1.102",
                "version_created": "2021-01-11T15:43:05.661089Z",
                "relevant_disorders": [
                    "Atypical Beckwith-Wiedemann syndrome",
                    "Classical Beckwith-Wiedemann syndrome",
                    "Simpson-Golabi-Behmel syndrome",
                    "Sotos syndrome",
                    "Weaver syndrome"
                ],
                "stats": {
                    "number_of_genes": 29,
                    "number_of_strs": 0,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CD118"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6597",
                "gene_name": "LIF receptor alpha",
                "omim_gene": [
                    "151443"
                ],
                "alias_name": null,
                "gene_symbol": "LIFR",
                "hgnc_symbol": "LIFR",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:38475065-38608456",
                            "ensembl_id": "ENSG00000113594"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:38474963-38608354",
                            "ensembl_id": "ENSG00000113594"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-08-24"
            },
            "entity_type": "gene",
            "entity_name": "LIFR",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "28334964"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "CAKUT"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 234,
                "hash_id": "553f9696bb5a1616e5ed45d1",
                "name": "CAKUT",
                "disease_group": "Renal and urinary tract disorders",
                "disease_sub_group": "Structural renal and urinary tract disease",
                "status": "public",
                "version": "1.157",
                "version_created": "2020-12-21T12:04:40.734697Z",
                "relevant_disorders": [
                    "Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)"
                ],
                "stats": {
                    "number_of_genes": 97,
                    "number_of_strs": 0,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "SPG63"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:469",
                "gene_name": "adenosine monophosphate deaminase 2",
                "omim_gene": [
                    "102771"
                ],
                "alias_name": [
                    "AMPD isoform L"
                ],
                "gene_symbol": "AMPD2",
                "hgnc_symbol": "AMPD2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:110158726-110174673",
                            "ensembl_id": "ENSG00000116337"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:109616104-109632051",
                            "ensembl_id": "ENSG00000116337"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1990-03-06"
            },
            "entity_type": "gene",
            "entity_name": "AMPD2",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "Novarino et al. (2014)",
                "PMID: 24482476"
            ],
            "evidence": [
                "Expert Review Red",
                "Wessex and West Midlands GLH",
                "Yorkshire and North East GLH",
                "NHS GMS",
                "London North GLH"
            ],
            "phenotypes": [
                "Spastic paraplegia homozygous frameshift reported in single family (Novarino et al, 2014).",
                "Hereditary Spastic Paraplegia?",
                "Pontocerebellar hypoplasia 9 (#615809)",
                "Pontocerebellar hypolplasia (biallelic)"
            ],
            "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": "2.38",
                "version_created": "2021-01-18T15:06:40.530512Z",
                "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": [
                    "KIAA1348",
                    "PPM2C2",
                    "PPM2B"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:30263",
                "gene_name": "pyruvate dehyrogenase phosphatase catalytic subunit 2",
                "omim_gene": [
                    "615499"
                ],
                "alias_name": [
                    "protein phosphatase 2C, magnesium-dependent, catalytic subunit 2",
                    "protein phosphatase, Mg2+/Mn2+ dependent 2B",
                    "[pyruvate dehydrogenase (acetyl-transferring)]-phosphatase"
                ],
                "gene_symbol": "PDP2",
                "hgnc_symbol": "PDP2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:66912492-66929657",
                            "ensembl_id": "ENSG00000172840"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:66878589-66895754",
                            "ensembl_id": "ENSG00000172840"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2009-06-12"
            },
            "entity_type": "gene",
            "entity_name": "PDP2",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "27604308"
            ],
            "evidence": [
                "Expert Review Red",
                "Literature"
            ],
            "phenotypes": [
                "Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism)"
            ],
            "mode_of_inheritance": "Unknown",
            "tags": [],
            "panel": {
                "id": 302,
                "hash_id": "5763f1518f620350a22bccdb",
                "name": "Undiagnosed metabolic disorders",
                "disease_group": "Metabolic disorders",
                "disease_sub_group": "Specific metabolic abnormalities",
                "status": "public",
                "version": "1.440",
                "version_created": "2021-01-19T11:12:20.125730Z",
                "relevant_disorders": [
                    "Undiagnosed Metabolic Panel"
                ],
                "stats": {
                    "number_of_genes": 750,
                    "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": [
                    "ASP",
                    "ACY2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:756",
                "gene_name": "aspartoacylase",
                "omim_gene": [
                    "608034"
                ],
                "alias_name": [
                    "aminoacylase 2",
                    "Canavan disease"
                ],
                "gene_symbol": "ASPA",
                "hgnc_symbol": "ASPA",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:3375668-3406713",
                            "ensembl_id": "ENSG00000108381"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:3472374-3503419",
                            "ensembl_id": "ENSG00000108381"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-12-09"
            },
            "entity_type": "gene",
            "entity_name": "ASPA",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "27604308"
            ],
            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services",
                "Literature"
            ],
            "phenotypes": [
                "Canavan disease\t271900"
            ],
            "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": "1.440",
                "version_created": "2021-01-19T11:12:20.125730Z",
                "relevant_disorders": [
                    "Undiagnosed Metabolic Panel"
                ],
                "stats": {
                    "number_of_genes": 750,
                    "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": [
                    "E1k"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8124",
                "gene_name": "oxoglutarate dehydrogenase",
                "omim_gene": [
                    "613022"
                ],
                "alias_name": null,
                "gene_symbol": "OGDH",
                "hgnc_symbol": "OGDH",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:44646171-44748665",
                            "ensembl_id": "ENSG00000105953"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:44606572-44709066",
                            "ensembl_id": "ENSG00000105953"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1989-06-30"
            },
            "entity_type": "gene",
            "entity_name": "OGDH",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "27604308"
            ],
            "evidence": [
                "Radboud University Medical Center, Nijmegen",
                "Expert Review Red",
                "Literature"
            ],
            "phenotypes": [
                "2-Oxoglutarate dehydrogenase deficiency (Disorders of the citric acid cycle)",
                "Alpha-ketoglutarate dehydrogenase deficiency, 203740",
                "(OXOGLUTARIC ACIDURIA)"
            ],
            "mode_of_inheritance": "Unknown",
            "tags": [],
            "panel": {
                "id": 302,
                "hash_id": "5763f1518f620350a22bccdb",
                "name": "Undiagnosed metabolic disorders",
                "disease_group": "Metabolic disorders",
                "disease_sub_group": "Specific metabolic abnormalities",
                "status": "public",
                "version": "1.440",
                "version_created": "2021-01-19T11:12:20.125730Z",
                "relevant_disorders": [
                    "Undiagnosed Metabolic Panel"
                ],
                "stats": {
                    "number_of_genes": 750,
                    "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": [
                    "FA",
                    "FARR",
                    "X25",
                    "CyaY"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3951",
                "gene_name": "frataxin",
                "omim_gene": [
                    "606829"
                ],
                "alias_name": null,
                "gene_symbol": "FXN",
                "hgnc_symbol": "FXN",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:71650175-71715094",
                            "ensembl_id": "ENSG00000165060"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:69035259-69100178",
                            "ensembl_id": "ENSG00000165060"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-08-19"
            },
            "entity_type": "gene",
            "entity_name": "FXN",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "27604308"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Friedreich ataxia, 229300",
                "Friedreich ataxia with retained reflexes, 229300",
                "Defective Fe-S/lipoic acid biosynthesis  (Mitochondrial respiratory chain disorders (caused by nuclear variants only))"
            ],
            "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": "1.440",
                "version_created": "2021-01-19T11:12:20.125730Z",
                "relevant_disorders": [
                    "Undiagnosed Metabolic Panel"
                ],
                "stats": {
                    "number_of_genes": 750,
                    "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:838",
                "gene_name": "ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit",
                "omim_gene": [
                    "606153"
                ],
                "alias_name": null,
                "gene_symbol": "ATP5E",
                "hgnc_symbol": "ATP5E",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "20:57600522-57607437",
                            "ensembl_id": "ENSG00000124172"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "20:59025467-59032382",
                            "ensembl_id": "ENSG00000124172"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-02-25"
            },
            "entity_type": "gene",
            "entity_name": "ATP5E",
            "confidence_level": "2",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "20566710",
                "27626380",
                "25954304",
                "27604308"
            ],
            "evidence": [
                "Expert Review Amber",
                "Literature"
            ],
            "phenotypes": [
                "?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 614053"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "new-gene-name"
            ],
            "panel": {
                "id": 302,
                "hash_id": "5763f1518f620350a22bccdb",
                "name": "Undiagnosed metabolic disorders",
                "disease_group": "Metabolic disorders",
                "disease_sub_group": "Specific metabolic abnormalities",
                "status": "public",
                "version": "1.440",
                "version_created": "2021-01-19T11:12:20.125730Z",
                "relevant_disorders": [
                    "Undiagnosed Metabolic Panel"
                ],
                "stats": {
                    "number_of_genes": 750,
                    "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": [
                    "trnP"
                ],
                "biotype": "Mt_tRNA",
                "hgnc_id": "HGNC:7494",
                "gene_name": "mitochondrially encoded tRNA proline",
                "omim_gene": [
                    "590075"
                ],
                "alias_name": null,
                "gene_symbol": "MT-TP",
                "hgnc_symbol": "MT-TP",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "MT:15956-16023",
                            "ensembl_id": "ENSG00000210196"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "MT:15956-16023",
                            "ensembl_id": "ENSG00000210196"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-02-16"
            },
            "entity_type": "gene",
            "entity_name": "MT-TP",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "MITOCHONDRIAL",
            "tags": [],
            "panel": {
                "id": 467,
                "hash_id": null,
                "name": "Inborn errors of metabolism",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "2.50",
                "version_created": "2021-01-19T11:47:22.172698Z",
                "relevant_disorders": [
                    "Likely inborn error of metabolism - targeted testing not possible",
                    "Likely inborn error of metabolism",
                    "R98"
                ],
                "stats": {
                    "number_of_genes": 897,
                    "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": [
                    "GSD1b",
                    "GSD1c",
                    "GSD1d"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4061",
                "gene_name": "solute carrier family 37 member 4",
                "omim_gene": [
                    "602671"
                ],
                "alias_name": null,
                "gene_symbol": "SLC37A4",
                "hgnc_symbol": "SLC37A4",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:118894824-118901616",
                            "ensembl_id": "ENSG00000137700"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:119024114-119030906",
                            "ensembl_id": "ENSG00000137700"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-09-10"
            },
            "entity_type": "gene",
            "entity_name": "SLC37A4",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "27604308"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Glycogen storage disease Ic, 232240",
                "Glycogen storage disease Ib, 232220",
                "Glycogen Storage Disease Type I",
                "Glycogen Storage Disorders- Liver",
                "Glycogen Storage Disease",
                "Glycogen Storage Disease Ib and Ic",
                "Glycogen storage disease type 1b, von Gierke (Glycogen storage disorders)",
                "heptomgaly, feed intolerance , inflammatory bowel disease, neutropenia"
            ],
            "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": "2.50",
                "version_created": "2021-01-19T11:47:22.172698Z",
                "relevant_disorders": [
                    "Likely inborn error of metabolism - targeted testing not possible",
                    "Likely inborn error of metabolism",
                    "R98"
                ],
                "stats": {
                    "number_of_genes": 897,
                    "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": [
                    "MGC10825",
                    "CN1",
                    "CPGL2",
                    "HsT2308"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:20675",
                "gene_name": "carnosine dipeptidase 1",
                "omim_gene": [
                    "609064"
                ],
                "alias_name": [
                    "carnosinase 1",
                    "glutamate carboxypeptidase-like protein 2",
                    "beta-Ala-His dipeptidase"
                ],
                "gene_symbol": "CNDP1",
                "hgnc_symbol": "CNDP1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "18:72201675-72254448",
                            "ensembl_id": "ENSG00000150656"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "18:74534440-74587212",
                            "ensembl_id": "ENSG00000150656"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-04-14"
            },
            "entity_type": "gene",
            "entity_name": "CNDP1",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "27604308"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Red"
            ],
            "phenotypes": [
                "Carnosinaemia (Other disorders of peptide metabolism)"
            ],
            "mode_of_inheritance": "Unknown",
            "tags": [],
            "panel": {
                "id": 467,
                "hash_id": null,
                "name": "Inborn errors of metabolism",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "2.50",
                "version_created": "2021-01-19T11:47:22.172698Z",
                "relevant_disorders": [
                    "Likely inborn error of metabolism - targeted testing not possible",
                    "Likely inborn error of metabolism",
                    "R98"
                ],
                "stats": {
                    "number_of_genes": 897,
                    "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": [
                    "MGC26694"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:28380",
                "gene_name": "solute carrier family 25 member 42",
                "omim_gene": [
                    "610823"
                ],
                "alias_name": null,
                "gene_symbol": "SLC25A42",
                "hgnc_symbol": "SLC25A42",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:19174808-19223697",
                            "ensembl_id": "ENSG00000181035"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:19063999-19112888",
                            "ensembl_id": "ENSG00000181035"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-09-21"
            },
            "entity_type": "gene",
            "entity_name": "SLC25A42",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "26541337",
                "29923093",
                "29327420"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, 618416"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 539,
                "hash_id": null,
                "name": "Possible mitochondrial disorder - nuclear genes",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.21",
                "version_created": "2020-11-16T16:20:34.348263Z",
                "relevant_disorders": [
                    "R63"
                ],
                "stats": {
                    "number_of_genes": 376,
                    "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."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "DTDST"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10994",
                "gene_name": "solute carrier family 26 member 2",
                "omim_gene": [
                    "606718"
                ],
                "alias_name": null,
                "gene_symbol": "SLC26A2",
                "hgnc_symbol": "SLC26A2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:149340300-149373018",
                            "ensembl_id": "ENSG00000155850"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:149960737-149993455",
                            "ensembl_id": "ENSG00000155850"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1990-09-10"
            },
            "entity_type": "gene",
            "entity_name": "SLC26A2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "PAGE DD-Gene2Phenotype",
                "Expert Review Green"
            ],
            "phenotypes": [
                "MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4",
                "ACHONDROGENESIS TYPE 1B",
                "ATELOSTEOGENESIS TYPE 2",
                "DIASTROPHIC DYSPLASIA"
            ],
            "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": "1.179",
                "version_created": "2021-01-21T16:00:42.215933Z",
                "relevant_disorders": [
                    "R21",
                    "Fetal anomalies with a likely genetic cause"
                ],
                "stats": {
                    "number_of_genes": 1755,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "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": "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": [
                    "MAT",
                    "SAMS",
                    "MATA1",
                    "SAMS1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6903",
                "gene_name": "methionine adenosyltransferase 1A",
                "omim_gene": [
                    "610550"
                ],
                "alias_name": [
                    "S-adenosylmethionine synthetase"
                ],
                "gene_symbol": "MAT1A",
                "hgnc_symbol": "MAT1A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:82031576-82049440",
                            "ensembl_id": "ENSG00000151224"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:80271820-80289684",
                            "ensembl_id": "ENSG00000151224"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-07-01"
            },
            "entity_type": "gene",
            "entity_name": "MAT1A",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Amber",
                "PAGE DD-Gene2Phenotype"
            ],
            "phenotypes": [
                "METHIONINE ADENOSYLTRANSFERASE DEFICIENCY"
            ],
            "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": "1.179",
                "version_created": "2021-01-21T16:00:42.215933Z",
                "relevant_disorders": [
                    "R21",
                    "Fetal anomalies with a likely genetic cause"
                ],
                "stats": {
                    "number_of_genes": 1755,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "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": "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": [
                    "Hfz6"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4044",
                "gene_name": "frizzled class receptor 6",
                "omim_gene": [
                    "603409"
                ],
                "alias_name": null,
                "gene_symbol": "FZD6",
                "hgnc_symbol": "FZD6",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:104310661-104345094",
                            "ensembl_id": "ENSG00000164930"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "8:103298433-103332866",
                            "ensembl_id": "ENSG00000164930"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-09-17"
            },
            "entity_type": "gene",
            "entity_name": "FZD6",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "PAGE DD-Gene2Phenotype"
            ],
            "phenotypes": [
                "NAIL DISORDER NON-SYNDROMIC CONGENITAL TYPE 10"
            ],
            "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": "1.179",
                "version_created": "2021-01-21T16:00:42.215933Z",
                "relevant_disorders": [
                    "R21",
                    "Fetal anomalies with a likely genetic cause"
                ],
                "stats": {
                    "number_of_genes": 1755,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "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": "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:9577",
                "gene_name": "phosphoserine phosphatase",
                "omim_gene": [
                    "172480"
                ],
                "alias_name": null,
                "gene_symbol": "PSPH",
                "hgnc_symbol": "PSPH",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:56078744-56119297",
                            "ensembl_id": "ENSG00000146733"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:56011051-56051604",
                            "ensembl_id": "ENSG00000146733"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "PSPH",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "PAGE DD-Gene2Phenotype",
                "Expert Review Green"
            ],
            "phenotypes": [
                "PHOSPHOSERINE PHOSPHATASE DEFICIENCY",
                "NEU-LAXOVA"
            ],
            "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": "1.179",
                "version_created": "2021-01-21T16:00:42.215933Z",
                "relevant_disorders": [
                    "R21",
                    "Fetal anomalies with a likely genetic cause"
                ],
                "stats": {
                    "number_of_genes": 1755,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "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": "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": [
                    "RNF55",
                    "c-Cbl"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1541",
                "gene_name": "Cbl proto-oncogene",
                "omim_gene": [
                    "165360"
                ],
                "alias_name": [
                    "oncogene CBL2"
                ],
                "gene_symbol": "CBL",
                "hgnc_symbol": "CBL",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:119076752-119178859",
                            "ensembl_id": "ENSG00000110395"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:119206276-119313926",
                            "ensembl_id": "ENSG00000110395"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1989-06-30"
            },
            "entity_type": "gene",
            "entity_name": "CBL",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "PAGE DD-Gene2Phenotype",
                "Expert Review Green"
            ],
            "phenotypes": [
                "NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 478,
                "hash_id": null,
                "name": "Fetal anomalies",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.179",
                "version_created": "2021-01-21T16:00:42.215933Z",
                "relevant_disorders": [
                    "R21",
                    "Fetal anomalies with a likely genetic cause"
                ],
                "stats": {
                    "number_of_genes": 1755,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "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": "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": [
                    "FLJ22315",
                    "DOR1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:18623",
                "gene_name": "component of oligomeric golgi complex 8",
                "omim_gene": [
                    "606979"
                ],
                "alias_name": null,
                "gene_symbol": "COG8",
                "hgnc_symbol": "COG8",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:69354043-69373570",
                            "ensembl_id": "ENSG00000213380"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:69320140-69339583",
                            "ensembl_id": "ENSG00000213380"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-05-09"
            },
            "entity_type": "gene",
            "entity_name": "COG8",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "30690882"
            ],
            "evidence": [
                "PAGE DD-Gene2Phenotype",
                "Expert Review Green"
            ],
            "phenotypes": [
                "COG8-CDG"
            ],
            "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": "1.179",
                "version_created": "2021-01-21T16:00:42.215933Z",
                "relevant_disorders": [
                    "R21",
                    "Fetal anomalies with a likely genetic cause"
                ],
                "stats": {
                    "number_of_genes": 1755,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "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": "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": [
                    "EFO2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:27230",
                "gene_name": "establishment of sister chromatid cohesion N-acetyltransferase 2",
                "omim_gene": [
                    "609353"
                ],
                "alias_name": null,
                "gene_symbol": "ESCO2",
                "hgnc_symbol": "ESCO2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:27629466-27670157",
                            "ensembl_id": "ENSG00000171320"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "8:27771949-27812640",
                            "ensembl_id": "ENSG00000171320"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-01-04"
            },
            "entity_type": "gene",
            "entity_name": "ESCO2",
            "confidence_level": "2",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "31192177"
            ],
            "evidence": [
                "Expert Review Amber",
                "NHS GMS",
                "Expert list"
            ],
            "phenotypes": [
                "Roberts syndrome",
                "SC phocomelia syndrome"
            ],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 168,
                "hash_id": "55b605f722c1fc05fd2345af",
                "name": "Craniosynostosis",
                "disease_group": "Skeletal disorders",
                "disease_sub_group": "Craniosynostosis syndromes",
                "status": "public",
                "version": "2.19",
                "version_created": "2021-01-21T17:21:17.425940Z",
                "relevant_disorders": [
                    "Craniosynostosis syndromes",
                    "Craniosynostosis syndromes phenotypes",
                    "Rare syndromic craniosynostosis or isolated multisuture synostosis",
                    "R100"
                ],
                "stats": {
                    "number_of_genes": 123,
                    "number_of_strs": 0,
                    "number_of_regions": 2
                },
                "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": "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": [
                    "ABP-280"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3754",
                "gene_name": "filamin A",
                "omim_gene": [
                    "300017"
                ],
                "alias_name": [
                    "actin binding protein 280",
                    "alpha filamin"
                ],
                "gene_symbol": "FLNA",
                "hgnc_symbol": "FLNA",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:153576892-153603006",
                            "ensembl_id": "ENSG00000196924"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:154348524-154374638",
                            "ensembl_id": "ENSG00000196924"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-03-18"
            },
            "entity_type": "gene",
            "entity_name": "FLNA",
            "confidence_level": "3",
            "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": [
                "25873011"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "frontometaphyseal dysplasia",
                "oto-palato-digital syndromes",
                "melnick-needles syndrome"
            ],
            "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": 168,
                "hash_id": "55b605f722c1fc05fd2345af",
                "name": "Craniosynostosis",
                "disease_group": "Skeletal disorders",
                "disease_sub_group": "Craniosynostosis syndromes",
                "status": "public",
                "version": "2.19",
                "version_created": "2021-01-21T17:21:17.425940Z",
                "relevant_disorders": [
                    "Craniosynostosis syndromes",
                    "Craniosynostosis syndromes phenotypes",
                    "Rare syndromic craniosynostosis or isolated multisuture synostosis",
                    "R100"
                ],
                "stats": {
                    "number_of_genes": 123,
                    "number_of_strs": 0,
                    "number_of_regions": 2
                },
                "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": "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": [
                    "KIAA0720",
                    "Syx",
                    "GEF720",
                    "Tech"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29105",
                "gene_name": "pleckstrin homology and RhoGEF domain containing G5",
                "omim_gene": [
                    "611101"
                ],
                "alias_name": [
                    "synectin-binding guanine exchange factor"
                ],
                "gene_symbol": "PLEKHG5",
                "hgnc_symbol": "PLEKHG5",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:6526152-6580121",
                            "ensembl_id": "ENSG00000171680"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:6466092-6520061",
                            "ensembl_id": "ENSG00000171680"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-08-09"
            },
            "entity_type": "gene",
            "entity_name": "PLEKHG5",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "17564964"
            ],
            "evidence": [
                "Expert Review Red",
                "Expert",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "phenotypes": [
                "Distal Spinal Muscular Atrophy",
                "Spinal muscular atrophy, distal, autosomal recessive, 4, 611067"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 79,
                "hash_id": "5541ef3dbb5a160c33b964e0",
                "name": "Paediatric motor neuronopathies",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor and Sensory Disorders of the PNS",
                "status": "public",
                "version": "1.35",
                "version_created": "2021-01-04T14:58:22.832897Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 39,
                    "number_of_strs": 1,
                    "number_of_regions": 5
                },
                "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": [
                    "G-ALPHA-o"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4389",
                "gene_name": "G protein subunit alpha o1",
                "omim_gene": [
                    "139311"
                ],
                "alias_name": null,
                "gene_symbol": "GNAO1",
                "hgnc_symbol": "GNAO1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:56225302-56391356",
                            "ensembl_id": "ENSG00000087258"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:56191347-56357457",
                            "ensembl_id": "ENSG00000087258"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1988-04-24"
            },
            "entity_type": "gene",
            "entity_name": "GNAO1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "23993195"
            ],
            "evidence": [
                "DD-Gene2Phenotype",
                "Expert Review Green"
            ],
            "phenotypes": [
                "EPILEPTIC ENCEPHALOPATHY"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 484,
                "hash_id": null,
                "name": "DDG2P",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "2.18",
                "version_created": "2021-01-20T12:43:50.853654Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1914,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "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": [
                    "FLJ13335",
                    "ZFYVE7"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14673",
                "gene_name": "FYVE and coiled-coil domain containing 1",
                "omim_gene": [
                    "607182"
                ],
                "alias_name": null,
                "gene_symbol": "FYCO1",
                "hgnc_symbol": "FYCO1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:45959396-46037316",
                            "ensembl_id": "ENSG00000163820"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:45917899-45995824",
                            "ensembl_id": "ENSG00000163820"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-03-06"
            },
            "entity_type": "gene",
            "entity_name": "FYCO1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "21636066",
                "11519376"
            ],
            "evidence": [
                "DD-Gene2Phenotype",
                "Expert Review Green"
            ],
            "phenotypes": [
                "CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2 610019"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 484,
                "hash_id": null,
                "name": "DDG2P",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "2.18",
                "version_created": "2021-01-20T12:43:50.853654Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1914,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "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": [
                    "KIAA1823",
                    "MGC14797",
                    "CENP-31"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:18145",
                "gene_name": "PHD finger protein 6",
                "omim_gene": [
                    "300414"
                ],
                "alias_name": [
                    "centromere protein 31"
                ],
                "gene_symbol": "PHF6",
                "hgnc_symbol": "PHF6",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:133507283-133562820",
                            "ensembl_id": "ENSG00000156531"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:134373253-134428791",
                            "ensembl_id": "ENSG00000156531"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-02-28"
            },
            "entity_type": "gene",
            "entity_name": "PHF6",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "15994862",
                "12415272",
                "15466013"
            ],
            "evidence": [
                "DD-Gene2Phenotype",
                "Expert Review Green"
            ],
            "phenotypes": [
                "BOERJESON-FORSSMAN-LEHMANN SYNDROME 301900"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "tags": [],
            "panel": {
                "id": 484,
                "hash_id": null,
                "name": "DDG2P",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "2.18",
                "version_created": "2021-01-20T12:43:50.853654Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1914,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "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": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2260",
                "gene_name": "COX10, heme A:farnesyltransferase cytochrome c oxidase assembly factor",
                "omim_gene": [
                    "602125"
                ],
                "alias_name": [
                    "protoheme IX farnesyltransferase, mitochondrial",
                    "heme O synthase"
                ],
                "gene_symbol": "COX10",
                "hgnc_symbol": "COX10",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:13972813-14111994",
                            "ensembl_id": "ENSG00000006695"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:14069496-14208677",
                            "ensembl_id": "ENSG00000006695"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1996-10-31"
            },
            "entity_type": "gene",
            "entity_name": "COX10",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [],
            "evidence": [
                "Wessex and West Midlands GLH",
                "NHS GMS",
                "Expert Review Amber",
                "Victorian Clinical Genetics Services"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 402,
                "hash_id": null,
                "name": "Genetic epilepsy syndromes",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Inherited Epilepsy Syndromes",
                "status": "public",
                "version": "2.274",
                "version_created": "2021-01-25T18:35:04.805559Z",
                "relevant_disorders": [
                    "Epilepsy Plus",
                    "Epilepsy plus other features",
                    "Genetic Epilepsy Syndromes",
                    "Epileptic encephalopathy",
                    "Familial Focal Epilepsies",
                    "Familial Genetic Generalised Epilepsies",
                    "Genetic Epilepsies with Febrile Seizures Plus (GEFS+)",
                    "Genetic Epilepsies with Febrile Seizures Plus",
                    "Early onset or syndromic epilepsy",
                    "R59"
                ],
                "stats": {
                    "number_of_genes": 707,
                    "number_of_strs": 2,
                    "number_of_regions": 15
                },
                "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": "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": [
                    "CEZANNE2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:20718",
                "gene_name": "OTU deubiquitinase 7A",
                "omim_gene": [
                    "612024"
                ],
                "alias_name": null,
                "gene_symbol": "OTUD7A",
                "hgnc_symbol": "OTUD7A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:31775329-32162992",
                            "ensembl_id": "ENSG00000169918"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:31475398-31870789",
                            "ensembl_id": "ENSG00000169918"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-07-07"
            },
            "entity_type": "gene",
            "entity_name": "OTUD7A",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "31997314",
                "29395075",
                "29395074"
            ],
            "evidence": [
                "Literature"
            ],
            "phenotypes": [
                "Epileptic encephalopathy, intellectual disability"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 402,
                "hash_id": null,
                "name": "Genetic epilepsy syndromes",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Inherited Epilepsy Syndromes",
                "status": "public",
                "version": "2.274",
                "version_created": "2021-01-25T18:35:04.805559Z",
                "relevant_disorders": [
                    "Epilepsy Plus",
                    "Epilepsy plus other features",
                    "Genetic Epilepsy Syndromes",
                    "Epileptic encephalopathy",
                    "Familial Focal Epilepsies",
                    "Familial Genetic Generalised Epilepsies",
                    "Genetic Epilepsies with Febrile Seizures Plus (GEFS+)",
                    "Genetic Epilepsies with Febrile Seizures Plus",
                    "Early onset or syndromic epilepsy",
                    "R59"
                ],
                "stats": {
                    "number_of_genes": 707,
                    "number_of_strs": 2,
                    "number_of_regions": 15
                },
                "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": "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": []
        },
        {
            "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": "2017-11-03",
                "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": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "19701946",
                "19856127",
                "23111317"
            ],
            "evidence": [
                "Wessex and West Midlands GLH",
                "NHS GMS",
                "Expert Review Green",
                "Victorian Clinical Genetics Services"
            ],
            "phenotypes": [
                "Congenital disorder of glycosylation, type In, 612015"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 402,
                "hash_id": null,
                "name": "Genetic epilepsy syndromes",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Inherited Epilepsy Syndromes",
                "status": "public",
                "version": "2.274",
                "version_created": "2021-01-25T18:35:04.805559Z",
                "relevant_disorders": [
                    "Epilepsy Plus",
                    "Epilepsy plus other features",
                    "Genetic Epilepsy Syndromes",
                    "Epileptic encephalopathy",
                    "Familial Focal Epilepsies",
                    "Familial Genetic Generalised Epilepsies",
                    "Genetic Epilepsies with Febrile Seizures Plus (GEFS+)",
                    "Genetic Epilepsies with Febrile Seizures Plus",
                    "Early onset or syndromic epilepsy",
                    "R59"
                ],
                "stats": {
                    "number_of_genes": 707,
                    "number_of_strs": 2,
                    "number_of_regions": 15
                },
                "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": "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:870",
                "gene_name": "ATPase copper transporting beta",
                "omim_gene": [
                    "606882"
                ],
                "alias_name": [
                    "Wilson disease",
                    "copper pump 2",
                    "copper-transporting ATPase 2"
                ],
                "gene_symbol": "ATP7B",
                "hgnc_symbol": "ATP7B",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "13:52506809-52585630",
                            "ensembl_id": "ENSG00000123191"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "13:51930436-52012125",
                            "ensembl_id": "ENSG00000123191"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "ATP7B",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "Expert Review Amber",
                "BRIDGE study SPEED NEURO Tier1 Gene"
            ],
            "phenotypes": [
                "Wilson disease 277900"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 285,
                "hash_id": "558aa423bb5a16630e15b63c",
                "name": "Intellectual disability",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Neurodevelopmental disorders",
                "status": "public",
                "version": "3.740",
                "version_created": "2021-01-25T18:26:28.122186Z",
                "relevant_disorders": [
                    "Coarse facial features including Coffin-Siris-like disorders",
                    "ID",
                    "Moderate",
                    "severe or profound intellectual disability",
                    "Schizophrenia plus additional features",
                    "Intellectual disability - microarray",
                    "fragile X and sequencing",
                    "R29"
                ],
                "stats": {
                    "number_of_genes": 2452,
                    "number_of_strs": 12,
                    "number_of_regions": 57
                },
                "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": [
                    "dJ794I6.2",
                    "BTR1",
                    "NaBC1",
                    "FECD4"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:16438",
                "gene_name": "solute carrier family 4 member 11",
                "omim_gene": [
                    "610206"
                ],
                "alias_name": null,
                "gene_symbol": "SLC4A11",
                "hgnc_symbol": "SLC4A11",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "20:3208063-3219836",
                            "ensembl_id": "ENSG00000088836"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "20:3227417-3239190",
                            "ensembl_id": "ENSG00000088836"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-11-02"
            },
            "entity_type": "gene",
            "entity_name": "SLC4A11",
            "confidence_level": "2",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Amber",
                "BRIDGE study SPEED NEURO Tier1 Gene"
            ],
            "phenotypes": [
                "Corneal endothelial dystrophy 2, autosomal recessive, 217700",
                "Corneal endothelial dystrophy and perceptive deafness, 217400",
                "Corneal dystrophy, Fuchs endothelial, 4, 613268"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 285,
                "hash_id": "558aa423bb5a16630e15b63c",
                "name": "Intellectual disability",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Neurodevelopmental disorders",
                "status": "public",
                "version": "3.740",
                "version_created": "2021-01-25T18:26:28.122186Z",
                "relevant_disorders": [
                    "Coarse facial features including Coffin-Siris-like disorders",
                    "ID",
                    "Moderate",
                    "severe or profound intellectual disability",
                    "Schizophrenia plus additional features",
                    "Intellectual disability - microarray",
                    "fragile X and sequencing",
                    "R29"
                ],
                "stats": {
                    "number_of_genes": 2452,
                    "number_of_strs": 12,
                    "number_of_regions": 57
                },
                "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": [
                    "CEK2",
                    "JTK4",
                    "CD333"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3690",
                "gene_name": "fibroblast growth factor receptor 3",
                "omim_gene": [
                    "134934"
                ],
                "alias_name": null,
                "gene_symbol": "FGFR3",
                "hgnc_symbol": "FGFR3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:1795034-1810599",
                            "ensembl_id": "ENSG00000068078"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:1793307-1808872",
                            "ensembl_id": "ENSG00000068078"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-06-07"
            },
            "entity_type": "gene",
            "entity_name": "FGFR3",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "17033969",
                "24864036",
                "3591840",
                "7773297",
                "8858131",
                "7647778",
                "7670477",
                "10360392",
                "10360393",
                "9450868",
                "8841188"
            ],
            "evidence": [
                "Victorian Clinical Genetics Services",
                "Expert Review Red",
                "Expert Review Red",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "CATSHL syndrome 610474",
                "Hypochondroplasia  146000",
                "SADDAN  616482",
                "Muenke syndrome  602849",
                "Thanatophoric dysplasia, type I  187600"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [
                "adult-onset"
            ],
            "panel": {
                "id": 285,
                "hash_id": "558aa423bb5a16630e15b63c",
                "name": "Intellectual disability",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Neurodevelopmental disorders",
                "status": "public",
                "version": "3.740",
                "version_created": "2021-01-25T18:26:28.122186Z",
                "relevant_disorders": [
                    "Coarse facial features including Coffin-Siris-like disorders",
                    "ID",
                    "Moderate",
                    "severe or profound intellectual disability",
                    "Schizophrenia plus additional features",
                    "Intellectual disability - microarray",
                    "fragile X and sequencing",
                    "R29"
                ],
                "stats": {
                    "number_of_genes": 2452,
                    "number_of_strs": 12,
                    "number_of_regions": 57
                },
                "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": [
                    "EMAPII",
                    "EMAP-2",
                    "p43"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10648",
                "gene_name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 1",
                "omim_gene": [
                    "603605"
                ],
                "alias_name": [
                    "EMAP II",
                    "ARS-interacting multifunctional protein 1"
                ],
                "gene_symbol": "AIMP1",
                "hgnc_symbol": "AIMP1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:107236701-107270383",
                            "ensembl_id": "ENSG00000164022"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:106315544-106349226",
                            "ensembl_id": "ENSG00000164022"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2009-05-20"
            },
            "entity_type": "gene",
            "entity_name": "AIMP1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Leukodystrophy, hypomyelinating, 3, 260600",
                "LEUKODYSTROPHY, HYPOMYELINATING, 3"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 285,
                "hash_id": "558aa423bb5a16630e15b63c",
                "name": "Intellectual disability",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Neurodevelopmental disorders",
                "status": "public",
                "version": "3.740",
                "version_created": "2021-01-25T18:26:28.122186Z",
                "relevant_disorders": [
                    "Coarse facial features including Coffin-Siris-like disorders",
                    "ID",
                    "Moderate",
                    "severe or profound intellectual disability",
                    "Schizophrenia plus additional features",
                    "Intellectual disability - microarray",
                    "fragile X and sequencing",
                    "R29"
                ],
                "stats": {
                    "number_of_genes": 2452,
                    "number_of_strs": 12,
                    "number_of_regions": 57
                },
                "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": [
                    "MGC26979",
                    "JBTS6",
                    "NPHP11"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:28396",
                "gene_name": "transmembrane protein 67",
                "omim_gene": [
                    "609884"
                ],
                "alias_name": [
                    "Meckelin"
                ],
                "gene_symbol": "TMEM67",
                "hgnc_symbol": "TMEM67",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:94767072-94831462",
                            "ensembl_id": "ENSG00000164953"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "8:93754844-93819234",
                            "ensembl_id": "ENSG00000164953"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-08-04"
            },
            "entity_type": "gene",
            "entity_name": "TMEM67",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Victorian Clinical Genetics Services",
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Meckel syndrome 3, 607361Joubert syndrome 6, 610688{Bardet-Biedl syndrome 14, modifier of}, 209900COACH syndrome, 216360Nephronophthisis 11, 613550",
                "COACH SYNDROME(COACHS)"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 285,
                "hash_id": "558aa423bb5a16630e15b63c",
                "name": "Intellectual disability",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Neurodevelopmental disorders",
                "status": "public",
                "version": "3.740",
                "version_created": "2021-01-25T18:26:28.122186Z",
                "relevant_disorders": [
                    "Coarse facial features including Coffin-Siris-like disorders",
                    "ID",
                    "Moderate",
                    "severe or profound intellectual disability",
                    "Schizophrenia plus additional features",
                    "Intellectual disability - microarray",
                    "fragile X and sequencing",
                    "R29"
                ],
                "stats": {
                    "number_of_genes": 2452,
                    "number_of_strs": 12,
                    "number_of_regions": 57
                },
                "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": [
                    "FLJ10587",
                    "FLJ23205"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25551",
                "gene_name": "SMG8, nonsense mediated mRNA decay factor",
                "omim_gene": [
                    "613175"
                ],
                "alias_name": null,
                "gene_symbol": "SMG8",
                "hgnc_symbol": "SMG8",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:57286761-57292608",
                            "ensembl_id": "ENSG00000167447"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:59209400-59215247",
                            "ensembl_id": "ENSG00000167447"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2011-06-21"
            },
            "entity_type": "gene",
            "entity_name": "SMG8",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "31130284",
                "33242396"
            ],
            "evidence": [
                "Expert Review Amber",
                "Expert list"
            ],
            "phenotypes": [
                "Intellectual disability",
                "Microcephaly",
                "Short stature",
                "Facial dysmorphism"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "for-review"
            ],
            "panel": {
                "id": 285,
                "hash_id": "558aa423bb5a16630e15b63c",
                "name": "Intellectual disability",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Neurodevelopmental disorders",
                "status": "public",
                "version": "3.740",
                "version_created": "2021-01-25T18:26:28.122186Z",
                "relevant_disorders": [
                    "Coarse facial features including Coffin-Siris-like disorders",
                    "ID",
                    "Moderate",
                    "severe or profound intellectual disability",
                    "Schizophrenia plus additional features",
                    "Intellectual disability - microarray",
                    "fragile X and sequencing",
                    "R29"
                ],
                "stats": {
                    "number_of_genes": 2452,
                    "number_of_strs": 12,
                    "number_of_regions": 57
                },
                "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": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6408",
                "gene_name": "MAF bZIP transcription factor B",
                "omim_gene": [
                    "608968"
                ],
                "alias_name": null,
                "gene_symbol": "MAFB",
                "hgnc_symbol": "MAFB",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "20:39314488-39317880",
                            "ensembl_id": "ENSG00000204103"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "20:40685848-40689240",
                            "ensembl_id": "ENSG00000204103"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-11-30"
            },
            "entity_type": "gene",
            "entity_name": "MAFB",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "Other - please provide details in the comments",
            "publications": [
                "3591830",
                "3041835",
                "23670161"
            ],
            "evidence": [
                "Expert Review Red",
                "Expert Review Red",
                "Expert Review Amber",
                "BRIDGE study SPEED NEURO Tier1 Gene"
            ],
            "phenotypes": [
                "Duane retraction syndrome 3 (617041)",
                "Multicentric carpotarsal osteolysis syndrome (166300)"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 285,
                "hash_id": "558aa423bb5a16630e15b63c",
                "name": "Intellectual disability",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Neurodevelopmental disorders",
                "status": "public",
                "version": "3.740",
                "version_created": "2021-01-25T18:26:28.122186Z",
                "relevant_disorders": [
                    "Coarse facial features including Coffin-Siris-like disorders",
                    "ID",
                    "Moderate",
                    "severe or profound intellectual disability",
                    "Schizophrenia plus additional features",
                    "Intellectual disability - microarray",
                    "fragile X and sequencing",
                    "R29"
                ],
                "stats": {
                    "number_of_genes": 2452,
                    "number_of_strs": 12,
                    "number_of_regions": 57
                },
                "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": [
                    "GlyRS",
                    "DSMAV",
                    "SMAD1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4162",
                "gene_name": "glycyl-tRNA synthetase",
                "omim_gene": [
                    "600287"
                ],
                "alias_name": [
                    "glycine tRNA ligase"
                ],
                "gene_symbol": "GARS",
                "hgnc_symbol": "GARS",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:30634297-30673649",
                            "ensembl_id": "ENSG00000106105"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:30594681-30634033",
                            "ensembl_id": "ENSG00000106105"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-03-21"
            },
            "entity_type": "gene",
            "entity_name": "GARS",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Victorian Clinical Genetics Services",
                "Expert Review Green",
                "Expert list",
                "Expert"
            ],
            "phenotypes": [
                "Multiple respiratory chain complex deficiencies (disorders of protein synthesis)",
                "Charcot-Marie-Tooth disease, type 2D",
                "Neuropathy, distal hereditary motor, type VA"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [
                "treatable",
                "new-gene-name"
            ],
            "panel": {
                "id": 112,
                "hash_id": "55928cf522c1fc4f7d26e960",
                "name": "Mitochondrial disorders",
                "disease_group": "Metabolic disorders",
                "disease_sub_group": "Mitochondrial",
                "status": "public",
                "version": "2.12",
                "version_created": "2020-11-16T16:20:06.853473Z",
                "relevant_disorders": [
                    "Lactic acidosis",
                    "All recognised syndromes and those with suggestive features"
                ],
                "stats": {
                    "number_of_genes": 469,
                    "number_of_strs": 2,
                    "number_of_regions": 1
                },
                "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": [
                    "HGF",
                    "GF1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11187",
                "gene_name": "SOS Ras/Rac guanine nucleotide exchange factor 1",
                "omim_gene": [
                    "182530"
                ],
                "alias_name": null,
                "gene_symbol": "SOS1",
                "hgnc_symbol": "SOS1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:39208537-39351486",
                            "ensembl_id": "ENSG00000115904"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:38981396-39124345",
                            "ensembl_id": "ENSG00000115904"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-10-27"
            },
            "entity_type": "gene",
            "entity_name": "SOS1",
            "confidence_level": "3",
            "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": [
                "19438935",
                "17143285",
                "17143282",
                "17586837"
            ],
            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "Eligibility statement prior genetic testing",
                "Emory Genetics Laboratory",
                "Illumina TruGenome Clinical Sequencing Services",
                "UKGTN"
            ],
            "phenotypes": [
                "Noonan syndrome 4 610733"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 48,
                "hash_id": "564cbd3622c1fc10dcb42ac7",
                "name": "RASopathies",
                "disease_group": "Dysmorphic and congenital abnormality syndromes",
                "disease_sub_group": "RASopathies",
                "status": "public",
                "version": "1.74",
                "version_created": "2020-11-24T12:14:13.268000Z",
                "relevant_disorders": [
                    "Cardio-facio-cutaneous syndrome",
                    "Costello syndrome",
                    "LEOPARD syndrome",
                    "Legius syndrome",
                    "Noonan syndrome",
                    "Noonan syndrome plus other features"
                ],
                "stats": {
                    "number_of_genes": 23,
                    "number_of_strs": 0,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "MIP-T3",
                    "DKFZP434F124",
                    "MIPT3",
                    "IFT54"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17861",
                "gene_name": "TRAF3 interacting protein 1",
                "omim_gene": [
                    "607380"
                ],
                "alias_name": [
                    "microtubule interacting protein that associates with TRAF3"
                ],
                "gene_symbol": "TRAF3IP1",
                "hgnc_symbol": "TRAF3IP1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:239229082-239309541",
                            "ensembl_id": "ENSG00000204104"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:238320441-238400900",
                            "ensembl_id": "ENSG00000204104"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-03-12"
            },
            "entity_type": "gene",
            "entity_name": "TRAF3IP1",
            "confidence_level": "0",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "26487268"
            ],
            "evidence": [
                "Expert list"
            ],
            "phenotypes": [
                "Senior-Loken syndrome 9, MIM#616629"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 307,
                "hash_id": "56e0238b22c1fc09c97a6e46",
                "name": "Retinal disorders",
                "disease_group": "Ophthalmological disorders",
                "disease_sub_group": "Posterior segment abnormalities",
                "status": "public",
                "version": "2.130",
                "version_created": "2021-01-22T14:03:53.135158Z",
                "relevant_disorders": [
                    "Posterior segment abnormalities",
                    "Cone Dysfunction Syndrome",
                    "Developmental macular and foveal dystrophy",
                    "Inherited macular dystrophy",
                    "Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy",
                    "Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy",
                    "Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy",
                    "Rod Dysfunction Syndrome",
                    "Rod-cone dystrophy",
                    "Familial exudative vitreoretinopathy",
                    "Familial exudative retinopathy",
                    "R32",
                    "R33",
                    "R34",
                    "R35"
                ],
                "stats": {
                    "number_of_genes": 390,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "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": "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": [
                    "FLJ13305"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25808",
                "gene_name": "family with sequence similarity 161 member A",
                "omim_gene": [
                    "613596"
                ],
                "alias_name": null,
                "gene_symbol": "FAM161A",
                "hgnc_symbol": "FAM161A",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:62051989-62081278",
                            "ensembl_id": "ENSG00000170264"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:61824854-61854143",
                            "ensembl_id": "ENSG00000170264"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2008-06-05"
            },
            "entity_type": "gene",
            "entity_name": "FAM161A",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Eye Disorders",
                "Retinitis pigmentosa 28, 606068",
                "Retinitis pigmentosa",
                "Retinitis Pigmentosa, Recessive"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 307,
                "hash_id": "56e0238b22c1fc09c97a6e46",
                "name": "Retinal disorders",
                "disease_group": "Ophthalmological disorders",
                "disease_sub_group": "Posterior segment abnormalities",
                "status": "public",
                "version": "2.130",
                "version_created": "2021-01-22T14:03:53.135158Z",
                "relevant_disorders": [
                    "Posterior segment abnormalities",
                    "Cone Dysfunction Syndrome",
                    "Developmental macular and foveal dystrophy",
                    "Inherited macular dystrophy",
                    "Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy",
                    "Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy",
                    "Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy",
                    "Rod Dysfunction Syndrome",
                    "Rod-cone dystrophy",
                    "Familial exudative vitreoretinopathy",
                    "Familial exudative retinopathy",
                    "R32",
                    "R33",
                    "R34",
                    "R35"
                ],
                "stats": {
                    "number_of_genes": 390,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "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": "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:449",
                "gene_name": "ALX homeobox 3",
                "omim_gene": [
                    "606014"
                ],
                "alias_name": null,
                "gene_symbol": "ALX3",
                "hgnc_symbol": "ALX3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:110602616-110613322",
                            "ensembl_id": "ENSG00000156150"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:110059994-110070700",
                            "ensembl_id": "ENSG00000156150"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-04-08"
            },
            "entity_type": "gene",
            "entity_name": "ALX3",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "19409524"
            ],
            "evidence": [
                "Expert Review Red",
                "NHS GMS",
                "London North GLH"
            ],
            "phenotypes": [
                "Frontonasal Dysplasia 1, FND1, 136760"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 509,
                "hash_id": null,
                "name": "Structural eye disease",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.42",
                "version_created": "2021-01-20T10:53:16.965571Z",
                "relevant_disorders": [
                    "R36"
                ],
                "stats": {
                    "number_of_genes": 471,
                    "number_of_strs": 0,
                    "number_of_regions": 2
                },
                "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": [
                    "FIR",
                    "SIAHBP1",
                    "RoBPI"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17042",
                "gene_name": "poly(U) binding splicing factor 60",
                "omim_gene": [
                    "604819"
                ],
                "alias_name": [
                    "siah binding protein 1",
                    "FBP interacting repressor",
                    "pyrimidine tract binding splicing factor",
                    "Ro ribonucleoprotein binding protein 1"
                ],
                "gene_symbol": "PUF60",
                "hgnc_symbol": "PUF60",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:144898514-144912029",
                            "ensembl_id": "ENSG00000179950"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "8:143816344-143829859",
                            "ensembl_id": "ENSG00000179950"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-07-27"
            },
            "entity_type": "gene",
            "entity_name": "PUF60",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "Other - please provide details in the comments",
            "publications": [
                "27804958",
                "24140112",
                "28327570",
                "19464398"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Verheij syndrome, 615583",
                "PUF60 syndrome",
                "Chromosome 8q24.3 deletion syndrome",
                "VRJS",
                "ocular abnormalities"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 509,
                "hash_id": null,
                "name": "Structural eye disease",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.42",
                "version_created": "2021-01-20T10:53:16.965571Z",
                "relevant_disorders": [
                    "R36"
                ],
                "stats": {
                    "number_of_genes": 471,
                    "number_of_strs": 0,
                    "number_of_regions": 2
                },
                "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": [
                    "KIAA0243",
                    "LAM",
                    "hamartin"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12362",
                "gene_name": "TSC complex subunit 1",
                "omim_gene": [
                    "605284"
                ],
                "alias_name": [
                    "hamartin"
                ],
                "gene_symbol": "TSC1",
                "hgnc_symbol": "TSC1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:135766735-135820020",
                            "ensembl_id": "ENSG00000165699"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:132891348-132944633",
                            "ensembl_id": "ENSG00000165699"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "TSC1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Focal cortical dysplasia, type II, somatic 607341",
                "Lymphangioleiomyomatosis 606690",
                "Tuberous sclerosis-1 191100"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 65,
                "hash_id": "57ee82ef8f62035c9b2d0487",
                "name": "Primary lymphoedema",
                "disease_group": "Cardiovascular disorders",
                "disease_sub_group": "Lymphatic Disorders",
                "status": "public",
                "version": "2.7",
                "version_created": "2020-12-24T11:57:45.351960Z",
                "relevant_disorders": [
                    "Lymphatic Disorders",
                    "Meiges disease",
                    "Meige disease",
                    "Milroy disease",
                    "Lymphoedema distichiasis",
                    "Lipoedema disease",
                    "R136"
                ],
                "stats": {
                    "number_of_genes": 53,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "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": "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": [
                    "GENX-3947",
                    "DYT23"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14004",
                "gene_name": "anoctamin 3",
                "omim_gene": [
                    "610110"
                ],
                "alias_name": [
                    "transmembrane protein 16C (eight membrane-spanning domains)"
                ],
                "gene_symbol": "ANO3",
                "hgnc_symbol": "ANO3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:26210829-26684835",
                            "ensembl_id": "ENSG00000134343"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:26309599-26663288",
                            "ensembl_id": "ENSG00000134343"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2008-08-28"
            },
            "entity_type": "gene",
            "entity_name": "ANO3",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "27392807",
                "24094724 Rare variants in ANO3 are not a susceptibility factor in essential tremor",
                "24442708",
                "25847575",
                "24151159 Low frequency missense variants in ANO3 occur in both cases and controls, warranting further assessment of this gene in PTD pathogenesis",
                "23200863"
            ],
            "evidence": [
                "NHS GMS",
                "London North GLH",
                "Expert Review Green"
            ],
            "phenotypes": [
                "familial form of cranio-cervical dystonia",
                "Dystonia 24, 615034"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 540,
                "hash_id": null,
                "name": "Adult onset movement disorder",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.16",
                "version_created": "2020-11-20T16:04:22.346339Z",
                "relevant_disorders": [
                    "R56"
                ],
                "stats": {
                    "number_of_genes": 204,
                    "number_of_strs": 11,
                    "number_of_regions": 1
                },
                "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": [
                    "NPH3",
                    "KIAA2000",
                    "FLJ30691",
                    "FLJ36696",
                    "MKS7",
                    "SLSN3",
                    "CFAP31"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7907",
                "gene_name": "nephrocystin 3",
                "omim_gene": [
                    "608002"
                ],
                "alias_name": [
                    "Meckel syndrome, type 7",
                    "cilia and flagella associated protein 31"
                ],
                "gene_symbol": "NPHP3",
                "hgnc_symbol": "NPHP3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:132276986-132441303",
                            "ensembl_id": "ENSG00000113971"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:132680609-132722442",
                            "ensembl_id": "ENSG00000113971"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-01-20"
            },
            "entity_type": "gene",
            "entity_name": "NPHP3",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Expert review green",
                "Literature"
            ],
            "phenotypes": [
                "MIM 604387",
                "Nephronophthisis 3",
                "Nephropathy of unknown origin",
                "Glomerulopathy"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 720,
                "hash_id": null,
                "name": "Groopman et al 2019 - Genes with diagnostic variants",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "0.8",
                "version_created": "2019-07-09T15:48:14.145108Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 66,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Submitted List",
                        "slug": "submitted-list",
                        "description": "Original list, ratings, comments submitted to PanelApp- generally used for the creation of reference GMS panels, these panels  should be internal only"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ30600",
                    "CORD16",
                    "RP64",
                    "BBS21"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:27232",
                "gene_name": "chromosome 8 open reading frame 37",
                "omim_gene": [
                    "614477"
                ],
                "alias_name": null,
                "gene_symbol": "C8orf37",
                "hgnc_symbol": "C8orf37",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:96257147-96281429",
                            "ensembl_id": "ENSG00000156172"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "8:95244919-95269201",
                            "ensembl_id": "ENSG00000156172"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-07-27"
            },
            "entity_type": "gene",
            "entity_name": "C8orf37",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "26854863",
                "27008867"
            ],
            "evidence": [
                "Expert Review Red",
                "Other"
            ],
            "phenotypes": [
                "Bardet-Biedl syndrome 21, 617406"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 725,
                "hash_id": null,
                "name": "Renal ciliopathies",
                "disease_group": "Ciliopathies",
                "disease_sub_group": "Congenital malformations caused by ciliopathies",
                "status": "public",
                "version": "1.39",
                "version_created": "2021-01-19T14:27:35.282724Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 99,
                    "number_of_strs": 0,
                    "number_of_regions": 2
                },
                "types": [
                    {
                        "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:10681",
                "gene_name": "succinate dehydrogenase complex iron sulfur subunit B",
                "omim_gene": [
                    "185470"
                ],
                "alias_name": [
                    "iron-sulfur subunit of complex II",
                    "succinate dehydrogenase [ubiquinone] iron-sulfur subunit"
                ],
                "gene_symbol": "SDHB",
                "hgnc_symbol": "SDHB",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:17345217-17380665",
                            "ensembl_id": "ENSG00000117118"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:17018722-17054170",
                            "ensembl_id": "ENSG00000117118"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "SDHB",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Amber",
                "Expert Review Amber",
                "Expert List"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 734,
                "hash_id": null,
                "name": "Sarcoma susceptibility",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.5",
                "version_created": "2020-12-02T12:48:42.949934Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 42,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "GMS Cancer Germline Virtual",
                        "slug": "gms-cancer-germline-virtual",
                        "description": "This is a panel used for WGS germline analysis for the GMS."
                    },
                    {
                        "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": [
                    "CEMCOX2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2263",
                "gene_name": "COX15, cytochrome c oxidase assembly homolog",
                "omim_gene": [
                    "603646"
                ],
                "alias_name": null,
                "gene_symbol": "COX15",
                "hgnc_symbol": "COX15",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:101471601-101491857",
                            "ensembl_id": "ENSG00000014919"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:99711844-99732100",
                            "ensembl_id": "ENSG00000014919"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-07-03"
            },
            "entity_type": "gene",
            "entity_name": "COX15",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "MetBioNet",
                "Expert Review Green",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119",
                "Leigh syndrome due to cytochrome c oxidase deficiency, 256000"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 749,
                "hash_id": null,
                "name": "Cardiomyopathies - including childhood onset",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.18",
                "version_created": "2021-01-04T16:46:55.273491Z",
                "relevant_disorders": [
                    "Paediatric or syndromic cardiomyopathy",
                    "R135"
                ],
                "stats": {
                    "number_of_genes": 202,
                    "number_of_strs": 0,
                    "number_of_regions": 1
                },
                "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 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."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "MGC10922",
                    "DKFZP762D096",
                    "NBIA4",
                    "MPAN"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25443",
                "gene_name": "chromosome 19 open reading frame 12",
                "omim_gene": [
                    "614297"
                ],
                "alias_name": [
                    "neurodegeneration with brain iron accumulation 4",
                    "membrane protein-associated neurodegeneration"
                ],
                "gene_symbol": "C19orf12",
                "hgnc_symbol": "C19orf12",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:30191721-30206364",
                            "ensembl_id": "ENSG00000131943"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:29698886-29715789",
                            "ensembl_id": "ENSG00000131943"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-02-11"
            },
            "entity_type": "gene",
            "entity_name": "C19orf12",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "23857908",
                "20039086"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "NHS GMS",
                "London North GLH"
            ],
            "phenotypes": [
                "SPG43, Childhood onset spastic paraplegia and sensory-motor axonal neuropathy, NBIA with optic atrophy, extrapyramidal signs",
                "Spastic paraplegia 43, autosomal recessive, 615043",
                "Neurodegeneration with brain iron accumulation 4, 614298"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 846,
                "hash_id": null,
                "name": "Hereditary neuropathy NOT PMP22 copy number",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.21",
                "version_created": "2021-01-25T14:49:08.822265Z",
                "relevant_disorders": [
                    "R78"
                ],
                "stats": {
                    "number_of_genes": 290,
                    "number_of_strs": 1,
                    "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": [
                    "FLJ32173",
                    "MGC16028"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29669",
                "gene_name": "intraflagellar transport 43",
                "omim_gene": [
                    "614068"
                ],
                "alias_name": null,
                "gene_symbol": "IFT43",
                "hgnc_symbol": "IFT43",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:76368479-76550928",
                            "ensembl_id": "ENSG00000119650"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "14:75902136-76084585",
                            "ensembl_id": "ENSG00000119650"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2011-06-09"
            },
            "entity_type": "gene",
            "entity_name": "IFT43",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "London North GLH"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 847,
                "hash_id": null,
                "name": "Childhood onset dystonia or chorea or related movement disorder",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.74",
                "version_created": "2021-01-25T17:26:13.658620Z",
                "relevant_disorders": [
                    "R57"
                ],
                "stats": {
                    "number_of_genes": 959,
                    "number_of_strs": 3,
                    "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": [
                    "GNT-II"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7045",
                "gene_name": "mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase",
                "omim_gene": [
                    "602616"
                ],
                "alias_name": null,
                "gene_symbol": "MGAT2",
                "hgnc_symbol": "MGAT2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:50087489-50090198",
                            "ensembl_id": "ENSG00000168282"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "14:49620795-49623481",
                            "ensembl_id": "ENSG00000168282"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-02-16"
            },
            "entity_type": "gene",
            "entity_name": "MGAT2",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "London North GLH"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 847,
                "hash_id": null,
                "name": "Childhood onset dystonia or chorea or related movement disorder",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.74",
                "version_created": "2021-01-25T17:26:13.658620Z",
                "relevant_disorders": [
                    "R57"
                ],
                "stats": {
                    "number_of_genes": 959,
                    "number_of_strs": 3,
                    "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": [
                    "AGAS",
                    "ARGA",
                    "NAT7"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17996",
                "gene_name": "N-acetylglutamate synthase",
                "omim_gene": [
                    "608300"
                ],
                "alias_name": null,
                "gene_symbol": "NAGS",
                "hgnc_symbol": "NAGS",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:42081914-42086431",
                            "ensembl_id": "ENSG00000161653"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:44004546-44009063",
                            "ensembl_id": "ENSG00000161653"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-12-03"
            },
            "entity_type": "gene",
            "entity_name": "NAGS",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "London North GLH"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 847,
                "hash_id": null,
                "name": "Childhood onset dystonia or chorea or related movement disorder",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.74",
                "version_created": "2021-01-25T17:26:13.658620Z",
                "relevant_disorders": [
                    "R57"
                ],
                "stats": {
                    "number_of_genes": 959,
                    "number_of_strs": 3,
                    "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": [
                    "TIN2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11824",
                "gene_name": "TERF1 interacting nuclear factor 2",
                "omim_gene": [
                    "604319"
                ],
                "alias_name": null,
                "gene_symbol": "TINF2",
                "hgnc_symbol": "TINF2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:24708849-24711880",
                            "ensembl_id": "ENSG00000092330"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "14:24239643-24242674",
                            "ensembl_id": "ENSG00000092330"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-11-19"
            },
            "entity_type": "gene",
            "entity_name": "TINF2",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "London North GLH"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 847,
                "hash_id": null,
                "name": "Childhood onset dystonia or chorea or related movement disorder",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.74",
                "version_created": "2021-01-25T17:26:13.658620Z",
                "relevant_disorders": [
                    "R57"
                ],
                "stats": {
                    "number_of_genes": 959,
                    "number_of_strs": 3,
                    "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": [
                    "FLJ11457",
                    "JBTS11",
                    "NPHP12",
                    "IFT139B",
                    "THM1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25660",
                "gene_name": "tetratricopeptide repeat domain 21B",
                "omim_gene": [
                    "612014"
                ],
                "alias_name": null,
                "gene_symbol": "TTC21B",
                "hgnc_symbol": "TTC21B",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:166713985-166810353",
                            "ensembl_id": "ENSG00000123607"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:165857475-165953843",
                            "ensembl_id": "ENSG00000123607"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-01-26"
            },
            "entity_type": "gene",
            "entity_name": "TTC21B",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "London North GLH"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 847,
                "hash_id": null,
                "name": "Childhood onset dystonia or chorea or related movement disorder",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.74",
                "version_created": "2021-01-25T17:26:13.658620Z",
                "relevant_disorders": [
                    "R57"
                ],
                "stats": {
                    "number_of_genes": 959,
                    "number_of_strs": 3,
                    "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": [
                    "C2H2-171",
                    "TAZ-1",
                    "RP58"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13030",
                "gene_name": "zinc finger and BTB domain containing 18",
                "omim_gene": [
                    "608433"
                ],
                "alias_name": null,
                "gene_symbol": "ZBTB18",
                "hgnc_symbol": "ZBTB18",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:244214585-244220778",
                            "ensembl_id": "ENSG00000179456"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:244048939-244057476",
                            "ensembl_id": "ENSG00000179456"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2013-01-09"
            },
            "entity_type": "gene",
            "entity_name": "ZBTB18",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "30847515"
            ],
            "evidence": [
                "Next Generation Children Project",
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Mental retardation, autosomal dominant 22, 612337"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 921,
                "hash_id": null,
                "name": "Severe Paediatric Disorders",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.43",
                "version_created": "2021-01-20T17:29:08.985521Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 2691,
                    "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": [
                    "TF6",
                    "FLJ36137",
                    "SPG57"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11758",
                "gene_name": "TRK-fused gene",
                "omim_gene": [
                    "602498"
                ],
                "alias_name": null,
                "gene_symbol": "TFG",
                "hgnc_symbol": "TFG",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:100428205-100467810",
                            "ensembl_id": "ENSG00000114354"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:100709331-100748966",
                            "ensembl_id": "ENSG00000114354"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-06-14"
            },
            "entity_type": "gene",
            "entity_name": "TFG",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "30847515"
            ],
            "evidence": [
                "Next Generation Children Project",
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Hereditary motor and sensory neuropathy, Okinawa type, 604484",
                "?Spastic paraplegia 57, autosomal recessive, 615658"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 921,
                "hash_id": null,
                "name": "Severe Paediatric Disorders",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.43",
                "version_created": "2021-01-20T17:29:08.985521Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 2691,
                    "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": [
                    "KIAA1076",
                    "Set1B",
                    "KMT2G"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29187",
                "gene_name": "SET domain containing 1B",
                "omim_gene": [
                    "611055"
                ],
                "alias_name": null,
                "gene_symbol": "SETD1B",
                "hgnc_symbol": "SETD1B",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:122242086-122270562",
                            "ensembl_id": "ENSG00000139718"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:121804180-121832584",
                            "ensembl_id": "ENSG00000139718"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-02-15"
            },
            "entity_type": "gene",
            "entity_name": "SETD1B",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "30847515"
            ],
            "evidence": [
                "Next Generation Children Project",
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Epilepsy, developmental delay, intellectual disability, autistic behavior and craniofacial dysmorphic features"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 921,
                "hash_id": null,
                "name": "Severe Paediatric Disorders",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.43",
                "version_created": "2021-01-20T17:29:08.985521Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 2691,
                    "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": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8931",
                "gene_name": "phosphorylase kinase catalytic subunit gamma 2",
                "omim_gene": [
                    "172471"
                ],
                "alias_name": null,
                "gene_symbol": "PHKG2",
                "hgnc_symbol": "PHKG2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:30759591-30772490",
                            "ensembl_id": "ENSG00000156873"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:30748270-30761176",
                            "ensembl_id": "ENSG00000156873"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-06-18"
            },
            "entity_type": "gene",
            "entity_name": "PHKG2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "30847515"
            ],
            "evidence": [
                "Next Generation Children Project",
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Glycogen storage disease IXc, 613027",
                "Cirrhosis due to liver phosphorylase kinase deficiency"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 921,
                "hash_id": null,
                "name": "Severe Paediatric Disorders",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.43",
                "version_created": "2021-01-20T17:29:08.985521Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 2691,
                    "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": [
                    "CARMA1",
                    "BIMP3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:16393",
                "gene_name": "caspase recruitment domain family member 11",
                "omim_gene": [
                    "607210"
                ],
                "alias_name": [
                    "card-maguk protein 1",
                    "bcl10-interacting maguk protein 3"
                ],
                "gene_symbol": "CARD11",
                "hgnc_symbol": "CARD11",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:2945775-3083579",
                            "ensembl_id": "ENSG00000198286"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:2906141-3043945",
                            "ensembl_id": "ENSG00000198286"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-08-13"
            },
            "entity_type": "gene",
            "entity_name": "CARD11",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "30847515"
            ],
            "evidence": [
                "Next Generation Children Project",
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "B-cell expansion with NFKB and T-cell anergy, 616452",
                "Immunodeficiency 11A, 615206",
                "Immunodeficiency 11B with atopic dermatitis, 617638"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 921,
                "hash_id": null,
                "name": "Severe Paediatric Disorders",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.43",
                "version_created": "2021-01-20T17:29:08.985521Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 2691,
                    "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": [
                    "ADHAPS",
                    "ADAS",
                    "ALDHPSY",
                    "ADPS",
                    "ADAP-S"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:327",
                "gene_name": "alkylglycerone phosphate synthase",
                "omim_gene": [
                    "603051"
                ],
                "alias_name": null,
                "gene_symbol": "AGPS",
                "hgnc_symbol": "AGPS",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:178257372-178408564",
                            "ensembl_id": "ENSG00000018510"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:177392644-177559299",
                            "ensembl_id": "ENSG00000018510"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-10-14"
            },
            "entity_type": "gene",
            "entity_name": "AGPS",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "30847515"
            ],
            "evidence": [
                "Next Generation Children Project",
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Rhizomelic chondrodysplasia punctata, type 3, 600121"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 921,
                "hash_id": null,
                "name": "Severe Paediatric Disorders",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.43",
                "version_created": "2021-01-20T17:29:08.985521Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 2691,
                    "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": [
                    "E46L",
                    "FLJ37990"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10549",
                "gene_name": "ataxin 10",
                "omim_gene": [
                    "611150"
                ],
                "alias_name": null,
                "gene_symbol": "ATXN10",
                "hgnc_symbol": "ATXN10",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "22:46067678-46241187",
                            "ensembl_id": "ENSG00000130638"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "22:45671798-45845307",
                            "ensembl_id": "ENSG00000130638"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-08-12"
            },
            "entity_type": "str",
            "entity_name": "ATXN10_ATTCT",
            "confidence_level": "0",
            "penetrance": null,
            "publications": [
                "12164725"
            ],
            "evidence": [
                "Expert Review Removed",
                "Expert list"
            ],
            "phenotypes": [
                "Spinocerebellar ataxia 10 603516"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "repeated_sequence": "ATTCT",
            "chromosome": "22",
            "grch37_coordinates": [
                46191235,
                46191304
            ],
            "grch38_coordinates": [
                45795355,
                45795424
            ],
            "normal_repeats": 32,
            "pathogenic_repeats": 800,
            "tags": [
                "STR"
            ],
            "panel": {
                "id": 309,
                "hash_id": "5693952f22c1fc251660fb1e",
                "name": "Skeletal dysplasia",
                "disease_group": "Skeletal disorders",
                "disease_sub_group": "Skeletal dysplasias",
                "status": "public",
                "version": "2.76",
                "version_created": "2021-01-21T16:45:45.930321Z",
                "relevant_disorders": [
                    "Unexplained skeletal dysplasia",
                    "Skeletal dysplasia",
                    "R104"
                ],
                "stats": {
                    "number_of_genes": 582,
                    "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."
                    }
                ]
            }
        }
    ]
}