Search Entities

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            "gene_data": {
                "alias": [
                    "RNF53",
                    "BRCC1",
                    "PPP1R53",
                    "FANCS"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1100",
                "gene_name": "BRCA1, DNA repair associated",
                "omim_gene": [
                    "113705"
                ],
                "alias_name": [
                    "BRCA1/BRCA2-containing complex, subunit 1",
                    "protein phosphatase 1, regulatory subunit 53",
                    "Fanconi anemia, complementation group S"
                ],
                "gene_symbol": "BRCA1",
                "hgnc_symbol": "BRCA1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "17:41196312-41277500",
                            "ensembl_id": "ENSG00000012048"
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                },
                "hgnc_date_symbol_changed": "1991-02-20"
            },
            "entity_type": "gene",
            "entity_name": "BRCA1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Eligibility statement prior genetic testing",
                "Expert list",
                "UKGTN",
                "Emory Genetics Laboratory",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "{Breast-ovarian cancer, familial, 1}, OMIM:604370"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
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                "watchlist_moi"
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                "name": "Familial breast cancer",
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                "disease_sub_group": "Breast and endocrine",
                "status": "public",
                "version": "1.20",
                "version_created": "2023-07-05T11:28:18.013178Z",
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                    "Familial breast and or ovarian cancer"
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                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
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        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1242",
                "gene_name": "complement C1q B chain",
                "omim_gene": [
                    "120570"
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                "alias_name": null,
                "gene_symbol": "C1QB",
                "hgnc_symbol": "C1QB",
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                    "GRch37": {
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                            "location": "1:22979255-22988031",
                            "ensembl_id": "ENSG00000173369"
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                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "C1QB",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "9476130",
                "17513176",
                "2894352",
                "23651859",
                "24160257",
                "25454803",
                "17513176",
                "24160257",
                "12133956"
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            "evidence": [
                "ClinGen",
                "Expert Review Green",
                "Other"
            ],
            "phenotypes": [
                "Immunodeficiency due to an early component of complement deficiency",
                "ORPHA169147",
                "OMIM 613652"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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                "name": "ClinGen Gene Validity Curations",
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                "disease_sub_group": "",
                "status": "public",
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                "version_created": "2024-04-09T15:06:35.122440Z",
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                    {
                        "name": "ClinGen Curated genes",
                        "slug": "clingen-curated-genes",
                        "description": "ClinGen Curated genes"
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            "transcript": null
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            "gene_data": {
                "alias": [
                    "FLJ14668"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25911",
                "gene_name": "family with sequence similarity 136 member A",
                "omim_gene": [
                    "616275"
                ],
                "alias_name": [
                    "hypothetical protein FLJ14668"
                ],
                "gene_symbol": "FAM136A",
                "hgnc_symbol": "FAM136A",
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                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:70523107-70529222",
                            "ensembl_id": "ENSG00000035141"
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                "hgnc_date_symbol_changed": "2007-07-10"
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            "entity_type": "gene",
            "entity_name": "FAM136A",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": null,
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                "28787010",
                "25305078"
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            "evidence": [
                "Expert Review Amber",
                "Literature",
                "Other"
            ],
            "phenotypes": [
                "Meniere disease"
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            "tags": [
                "multifactorial",
                "watchlist"
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                "id": 394,
                "hash_id": null,
                "name": "Familial Meniere Disease",
                "disease_group": "Hearing and ear disorders",
                "disease_sub_group": "Other hearing and ear disorders",
                "status": "public",
                "version": "1.3",
                "version_created": "2022-01-10T17:59:41.146518Z",
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                    "number_of_strs": 0,
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                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
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                ]
            },
            "transcript": null
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        {
            "gene_data": {
                "alias": [
                    "NE",
                    "HNE",
                    "HLE"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3309",
                "gene_name": "elastase, neutrophil expressed",
                "omim_gene": [
                    "130130"
                ],
                "alias_name": [
                    "neutrophil elastase",
                    "leukocyte elastase",
                    "medullasin"
                ],
                "gene_symbol": "ELANE",
                "hgnc_symbol": "ELANE",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:851014-856242",
                            "ensembl_id": "ENSG00000197561"
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                "hgnc_date_symbol_changed": "2009-05-05"
            },
            "entity_type": "gene",
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            "mode_of_pathogenicity": null,
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                "28297620"
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                "Curated sources",
                "Expert Review Green"
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                "Class: miscellaneous",
                "Severe congenital neutropenia",
                "MDS, AML"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
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                "id": 407,
                "hash_id": null,
                "name": "Haematological malignancies for rare disease",
                "disease_group": "Tumour syndromes",
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                "status": "public",
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        {
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                "gene_name": "bile acid-CoA:amino acid N-acyltransferase",
                "omim_gene": [
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                "alias_name": [
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                "hgnc_symbol": "BAAT",
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                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:104122699-104145801",
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                "hgnc_date_symbol_changed": "1996-03-13"
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            "entity_type": "gene",
            "entity_name": "BAAT",
            "confidence_level": "3",
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            "mode_of_pathogenicity": null,
            "publications": [
                "12704386",
                "23415802"
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            "evidence": [
                "Expert Review Green",
                "Victorian Clinical Genetics Services",
                "UKGTN",
                "Emory Genetics Laboratory"
            ],
            "phenotypes": [
                "Neonatal and Adult Cholestasis",
                "Hypercholanemia, Familial",
                "Hypercholanemia, familial, 607748",
                "cholestasis",
                "fat soluble vitamin deficiency"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
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                "id": 385,
                "hash_id": null,
                "name": "Neonatal cholestasis",
                "disease_group": "Gastroenterological disorders",
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                "status": "public",
                "version": "1.26",
                "version_created": "2022-10-13T17:48:00.571148Z",
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        },
        {
            "gene_data": {
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                    "BMD",
                    "DXS142",
                    "DXS164",
                    "DXS206",
                    "DXS230",
                    "DXS239",
                    "DXS268",
                    "DXS269",
                    "DXS270",
                    "DXS272"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2928",
                "gene_name": "dystrophin",
                "omim_gene": [
                    "300377"
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                "alias_name": [
                    "muscular dystrophy, Duchenne and Becker types"
                ],
                "gene_symbol": "DMD",
                "hgnc_symbol": "DMD",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:31115794-33357558",
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                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "DMD",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
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            "evidence": [
                "Expert Review Red",
                "Eligibility statement prior genetic testing"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "",
            "tags": [
                "Skewed X-inactivation"
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                "id": 235,
                "hash_id": "55b7a0bb22c1fc05fd2345d1",
                "name": "Distal myopathies",
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                "disease_sub_group": "Neuromuscular disorders",
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                "version": "3.17",
                "version_created": "2024-01-23T14:59:31.714175Z",
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                "stats": {
                    "number_of_genes": 31,
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                    "number_of_regions": 0
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                "types": [
                    {
                        "name": "Rare Disease 100K",
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                        "description": "Rare Disease 100K"
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                    {
                        "name": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "DRAK2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11396",
                "gene_name": "serine/threonine kinase 17b",
                "omim_gene": [
                    "604727"
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                "alias_name": [
                    "death-associated protein kinase-related 2"
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                "gene_symbol": "STK17B",
                "hgnc_symbol": "STK17B",
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                "ensembl_genes": {
                    "GRch37": {
                        "82": {
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                    }
                },
                "hgnc_date_symbol_changed": "1999-05-21"
            },
            "entity_type": "gene",
            "entity_name": "STK17B",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": null,
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                "19017949",
                "19017948",
                "17364498",
                "17966037"
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            "evidence": [
                "Expert list"
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            "phenotypes": [],
            "mode_of_inheritance": "Unknown",
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                "id": 111,
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                        "description": "This is a gene panel used for research."
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        {
            "gene_data": {
                "alias": [
                    "FLJ30681",
                    "KIAA1983"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29426",
                "gene_name": "collagen and calcium binding EGF domains 1",
                "omim_gene": [
                    "612753"
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                "alias_name": null,
                "gene_symbol": "CCBE1",
                "hgnc_symbol": "CCBE1",
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                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "18:57098172-57364612",
                            "ensembl_id": "ENSG00000183287"
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                },
                "hgnc_date_symbol_changed": "2005-01-18"
            },
            "entity_type": "gene",
            "entity_name": "CCBE1",
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            "mode_of_pathogenicity": "",
            "publications": [
                "24913602",
                "19911200",
                "19935664"
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                "IUIS Classification February 2018",
                "London North GLH",
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                "Victorian Clinical Genetics Services",
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                "Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features",
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                "Hennekam lymphangiectasia-lymphedema syndrome 1, 235510"
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        {
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                    "CD3Q"
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                "hgnc_date_symbol_changed": "2006-03-09"
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            "entity_name": "CD247",
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            "mode_of_pathogenicity": "",
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                "17170122",
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                "25688246",
                "27555457",
                "https://doi.org/10.14785/lpsn-2014-0012"
            ],
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            "phenotypes": [
                "?Immunodeficiency 25",
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                "Immunodeficiency 25, 610163",
                "Nl NK, no g/d T cells",
                "Atypical Severe Combined Immunodeficiency (Atypical SCID)",
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                "Severe combined immunodeficiency (SCID)"
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        },
        {
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                "hgnc_symbol": "BRCA1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:41196312-41277500",
                            "ensembl_id": "ENSG00000012048"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:43044295-43170245",
                            "ensembl_id": "ENSG00000012048"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-02-20"
            },
            "entity_type": "gene",
            "entity_name": "BRCA1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "32086639",
                "32048120"
            ],
            "evidence": [
                "Expert Review Green",
                "IUIS Classification December 2019"
            ],
            "phenotypes": [
                "Fanconi anemia, complementation group S, OMIM:617883",
                "Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage",
                "Bone marrow failure"
            ],
            "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": "1.142",
                "version_created": "2024-04-24T16:30:10.989811Z",
                "relevant_disorders": [
                    "Viral susceptibility"
                ],
                "stats": {
                    "number_of_genes": 695,
                    "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": [
                    "MGC12435",
                    "1700010H15RiK",
                    "CILD16"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:23247",
                "gene_name": "dynein axonemal light chain 1",
                "omim_gene": [
                    "610062"
                ],
                "alias_name": null,
                "gene_symbol": "DNAL1",
                "hgnc_symbol": "DNAL1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:74111578-74170435",
                            "ensembl_id": "ENSG00000119661"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "14:73644875-73703732",
                            "ensembl_id": "ENSG00000119661"
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                    }
                },
                "hgnc_date_symbol_changed": "2006-09-04"
            },
            "entity_type": "gene",
            "entity_name": "DNAL1",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "Emory Genetics Laboratory"
            ],
            "phenotypes": [
                "Pulmonary Disease"
            ],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 200,
                "hash_id": "563259de22c1fc58285b2840",
                "name": "Familial pulmonary fibrosis",
                "disease_group": "Respiratory disorders",
                "disease_sub_group": "Interstitial lung disorders",
                "status": "public",
                "version": "1.31",
                "version_created": "2024-04-09T15:06:27.920411Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 75,
                    "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": [
                    "HSP75",
                    "HSP90L"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:16264",
                "gene_name": "TNF receptor associated protein 1",
                "omim_gene": [
                    "606219"
                ],
                "alias_name": null,
                "gene_symbol": "TRAP1",
                "hgnc_symbol": "TRAP1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:3701640-3767598",
                            "ensembl_id": "ENSG00000126602"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:3651639-3717597",
                            "ensembl_id": "ENSG00000126602"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-07-02"
            },
            "entity_type": "gene",
            "entity_name": "TRAP1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "PMID: 24152966 - recessive mutations reported in 2 families with CAKUT, and 3 families with VACTERL."
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "VACTERL",
                "CAKUT"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "gene-checked"
            ],
            "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": "1.34",
                "version_created": "2023-05-03T11:13:26.293434Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 62,
                    "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": [
                    "VLCAD",
                    "LCACD",
                    "ACAD6"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:92",
                "gene_name": "acyl-CoA dehydrogenase very long chain",
                "omim_gene": [
                    "609575"
                ],
                "alias_name": null,
                "gene_symbol": "ACADVL",
                "hgnc_symbol": "ACADVL",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:7120444-7128592",
                            "ensembl_id": "ENSG00000072778"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:7217125-7225273",
                            "ensembl_id": "ENSG00000072778"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1996-05-30"
            },
            "entity_type": "gene",
            "entity_name": "ACADVL",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "25929793",
                "8739957",
                "9973285"
            ],
            "evidence": [
                "Expert Review Green",
                "Emory Genetics Laboratory",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN"
            ],
            "phenotypes": [
                "VLCAD deficiency, OMIM:201475"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
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                "hash_id": "55b63d7f22c1fc05fc7a185b",
                "name": "Rhabdomyolysis and metabolic muscle disorders",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Neuromuscular disorders",
                "status": "public",
                "version": "3.48",
                "version_created": "2024-01-08T23:39:00.723625Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 72,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    },
                    {
                        "name": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    },
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FMRP",
                    "FRAXA",
                    "MGC87458"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3775",
                "gene_name": "fragile X mental retardation 1",
                "omim_gene": [
                    "309550"
                ],
                "alias_name": null,
                "gene_symbol": "FMR1",
                "hgnc_symbol": "FMR1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:146993469-147032645",
                            "ensembl_id": "ENSG00000102081"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:147911951-147951125",
                            "ensembl_id": "ENSG00000102081"
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                    }
                },
                "hgnc_date_symbol_changed": "1992-01-17"
            },
            "entity_type": "gene",
            "entity_name": "FMR1",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Red"
            ],
            "phenotypes": [
                "Fragile X tremor/ataxia syndrome, OMIM:300623"
            ],
            "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": [
                "nucleotide-repeat-expansion"
            ],
            "panel": {
                "id": 477,
                "hash_id": null,
                "name": "Ataxia and cerebellar anomalies - narrow panel",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "4.64",
                "version_created": "2024-04-23T13:36:12.679484Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 295,
                    "number_of_strs": 14,
                    "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": "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": [
                    "S28"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10418",
                "gene_name": "ribosomal protein S28",
                "omim_gene": [
                    "603685"
                ],
                "alias_name": [
                    "40S ribosomal protein S28"
                ],
                "gene_symbol": "RPS28",
                "hgnc_symbol": "RPS28",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "19:8386042-8388224",
                            "ensembl_id": "ENSG00000233927"
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                    },
                    "GRch38": {
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                            "location": "19:8321158-8323340",
                            "ensembl_id": "ENSG00000233927"
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                    }
                },
                "hgnc_date_symbol_changed": "1993-12-07"
            },
            "entity_type": "gene",
            "entity_name": "RPS28",
            "confidence_level": "2",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "PMID 24942156"
            ],
            "evidence": [
                "Expert Review Amber",
                "Expert Review"
            ],
            "phenotypes": [
                "Diamond Blackfan anaemia with mandibulofacial dysostosis, 606164",
                "two cases only described to date",
                "Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 251,
                "hash_id": "57f4dbd18f62036d37cfe4e4",
                "name": "Deafness and congenital structural abnormalities",
                "disease_group": "Hearing and ear disorders",
                "disease_sub_group": "Deafness and congenital structural abnormalities",
                "status": "public",
                "version": "1.25",
                "version_created": "2024-04-24T16:43:40.705640Z",
                "relevant_disorders": [
                    "Bilateral microtia",
                    "Ear malformations with hearing impairment",
                    "Ear malformations",
                    "Familial hemifacial microsomia"
                ],
                "stats": {
                    "number_of_genes": 54,
                    "number_of_strs": 0,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "RAD1",
                    "FANCQ"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3436",
                "gene_name": "ERCC excision repair 4, endonuclease catalytic subunit",
                "omim_gene": [
                    "133520"
                ],
                "alias_name": [
                    "xeroderma pigmentosum, complementation group F"
                ],
                "gene_symbol": "ERCC4",
                "hgnc_symbol": "ERCC4",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "16:14014014-14046202",
                            "ensembl_id": "ENSG00000175595"
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                    },
                    "GRch38": {
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                            "location": "16:13920157-13952345",
                            "ensembl_id": "ENSG00000175595"
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                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "ERCC4",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "22044607"
            ],
            "evidence": [
                "NHS GMS",
                "Expert List",
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Fanconi anemia, complementation group Q, 615272",
                "Xeroderma pigmentosum, type F/Cockayne syndrome, 278760",
                "Fanconi anemia, complementation group Q, 615272",
                "XFE progeroid syndrome, 610965",
                "Xeroderma pigmentosum, group F, 278760"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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            "panel": {
                "id": 243,
                "hash_id": "55af539322c1fc78a9ef5052",
                "name": "Childhood solid tumours",
                "disease_group": "Tumour syndromes",
                "disease_sub_group": "Childhood Tumours",
                "status": "public",
                "version": "4.18",
                "version_created": "2024-04-11T12:52:20.613240Z",
                "relevant_disorders": [
                    "Paediatric congenital malformation-dysmorphism-tumour syndrome",
                    "Paediatric congenital malformation-dysmorphism-tumour syndromes",
                    "Paediatric congenital malformation-dysmorphism-tumour sydromes",
                    "Paediatric congenital malformation-dysmorphism-tumour syndrome",
                    "Tumour predisposition - childhood onset",
                    "R359"
                ],
                "stats": {
                    "number_of_genes": 121,
                    "number_of_strs": 0,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 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."
                    },
                    {
                        "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": [
                    "D11S812E",
                    "AN",
                    "WAGR"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8620",
                "gene_name": "paired box 6",
                "omim_gene": [
                    "607108"
                ],
                "alias_name": [
                    "aniridia, keratitis"
                ],
                "gene_symbol": "PAX6",
                "hgnc_symbol": "PAX6",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                    },
                    "GRch38": {
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                            "ensembl_id": "ENSG00000007372"
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                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "PAX6",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "UKGTN",
                "Emory Genetics Laboratory",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen"
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            "phenotypes": [
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                "Aniridia, 106210",
                "Cataract with late-onset corneal dystrohpy, 106210",
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                "Foveal hypoplasia 1, 136520",
                "Gillespie syndrome, 206700",
                "Keratitis, 148190",
                "Optic nerve hypoplasia, 165550",
                "Peters anomaly, 604229",
                "Wagner Syndrome",
                "Aniridia",
                "PAX6-related Disorders",
                "Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
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            "panel": {
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                "hash_id": "55af539322c1fc78a9ef5052",
                "name": "Childhood solid tumours",
                "disease_group": "Tumour syndromes",
                "disease_sub_group": "Childhood Tumours",
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                "version_created": "2024-04-11T12:52:20.613240Z",
                "relevant_disorders": [
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                    "Paediatric congenital malformation-dysmorphism-tumour sydromes",
                    "Paediatric congenital malformation-dysmorphism-tumour syndrome",
                    "Tumour predisposition - childhood onset",
                    "R359"
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                    "number_of_genes": 121,
                    "number_of_strs": 0,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 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."
                    },
                    {
                        "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": [
                    "AIS",
                    "NR3C4",
                    "SMAX1",
                    "HUMARA"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:644",
                "gene_name": "androgen receptor",
                "omim_gene": [
                    "313700"
                ],
                "alias_name": [
                    "testicular feminization",
                    "Kennedy disease"
                ],
                "gene_symbol": "AR",
                "hgnc_symbol": "AR",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "X:66764465-66950461",
                            "ensembl_id": "ENSG00000169083"
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                    "GRch38": {
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                            "location": "X:67544032-67730619",
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                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "AR",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red"
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                "Androgen insensitivity, OMIM:300068",
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                "Hypospadias 1, X-linked, OMIM:300633",
                "Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "tags": [],
            "panel": {
                "id": 553,
                "hash_id": null,
                "name": "Ectodermal dysplasia",
                "disease_group": "",
                "disease_sub_group": "",
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                            "location": "3:49716844-49723951",
                            "ensembl_id": "ENSG00000173540"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-01-10"
            },
            "entity_type": "gene",
            "entity_name": "GMPPB",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green"
            ],
            "phenotypes": [
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 OMIM:615350",
                "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 MONDO:0014140",
                "Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14\t OMIM:615351",
                "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 MONDO:0014141",
                "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352",
                "autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 467,
                "hash_id": null,
                "name": "Likely inborn error of metabolism - targeted testing not possible",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "4.137",
                "version_created": "2024-04-16T14:24:15.739554Z",
                "relevant_disorders": [
                    "Likely inborn error of metabolism - targeted testing not possible",
                    "Likely inborn error of metabolism",
                    "Inborn errors of metabolism",
                    "R98"
                ],
                "stats": {
                    "number_of_genes": 934,
                    "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": [
                    "NPD002",
                    "MGC14452"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21497",
                "gene_name": "acyl-CoA dehydrogenase family member 9",
                "omim_gene": [
                    "611103"
                ],
                "alias_name": null,
                "gene_symbol": "ACAD9",
                "hgnc_symbol": "ACAD9",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:128598439-128634910",
                            "ensembl_id": "ENSG00000177646"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:128879596-128916067",
                            "ensembl_id": "ENSG00000177646"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-06-18"
            },
            "entity_type": "gene",
            "entity_name": "ACAD9",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Mitochondrial complex I deficiency, nuclear type 20, 611126"
            ],
            "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": "3.105",
                "version_created": "2024-04-12T22:10:12.163485Z",
                "relevant_disorders": [
                    "R63"
                ],
                "stats": {
                    "number_of_genes": 381,
                    "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": [
                    "AGGG",
                    "CI-AGGG"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7697",
                "gene_name": "NADH:ubiquinone oxidoreductase subunit B2",
                "omim_gene": [
                    "603838"
                ],
                "alias_name": [
                    "NADH-ubiquinone oxidoreductase AGGG subunit",
                    "complex I AGGG subunit"
                ],
                "gene_symbol": "NDUFB2",
                "hgnc_symbol": "NDUFB2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:140390577-140422590",
                            "ensembl_id": "ENSG00000090266"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:140690777-140722790",
                            "ensembl_id": "ENSG00000090266"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1996-11-15"
            },
            "entity_type": "gene",
            "entity_name": "NDUFB2",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Amber",
                "NHS GMS"
            ],
            "phenotypes": [
                "No OMIM phenotype"
            ],
            "mode_of_inheritance": "Unknown",
            "tags": [],
            "panel": {
                "id": 539,
                "hash_id": null,
                "name": "Possible mitochondrial disorder - nuclear genes",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "3.105",
                "version_created": "2024-04-12T22:10:12.163485Z",
                "relevant_disorders": [
                    "R63"
                ],
                "stats": {
                    "number_of_genes": 381,
                    "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": [
                    "DSPG1",
                    "SLRR1A"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1044",
                "gene_name": "biglycan",
                "omim_gene": [
                    "301870"
                ],
                "alias_name": [
                    "biglycan proteoglycan"
                ],
                "gene_symbol": "BGN",
                "hgnc_symbol": "BGN",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:152760397-152775012",
                            "ensembl_id": "ENSG00000182492"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:153494939-153509554",
                            "ensembl_id": "ENSG00000182492"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1989-07-18"
            },
            "entity_type": "gene",
            "entity_name": "BGN",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "27632686"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Other"
            ],
            "phenotypes": [
                "Meester-Loeys syndrome, OMIM:300989"
            ],
            "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": 53,
                "hash_id": "588728f38f62030cf7152165",
                "name": "Ehlers Danlos syndrome with a likely monogenic cause",
                "disease_group": "Rheumatological disorders",
                "disease_sub_group": "Connective tissues disorders",
                "status": "public",
                "version": "3.12",
                "version_created": "2024-04-10T20:15:43.968357Z",
                "relevant_disorders": [
                    "Classical Ehlers Danlos Syndrome",
                    "Classical Ehlers-Danlos Syndrome",
                    "Ehlers-Danlos Syndrome (unusual phenotypes e.g. absent pain sense)",
                    "Ehlers-Danlos syndrome type 3",
                    "Kyphoscoliotic Ehlers-Danlos syndrome",
                    "EDS",
                    "Ehlers-Danlos syndromes",
                    "Ehlers Danlos syndromes",
                    "R101"
                ],
                "stats": {
                    "number_of_genes": 80,
                    "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": [
                    "MLC",
                    "KIAA0027",
                    "LVM",
                    "VL"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17082",
                "gene_name": "megalencephalic leukoencephalopathy with subcortical cysts 1",
                "omim_gene": [
                    "605908"
                ],
                "alias_name": null,
                "gene_symbol": "MLC1",
                "hgnc_symbol": "MLC1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "22:50497820-50524331",
                            "ensembl_id": "ENSG00000100427"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "22:50059391-50085902",
                            "ensembl_id": "ENSG00000100427"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-04-30"
            },
            "entity_type": "gene",
            "entity_name": "MLC1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "PAGE DD-Gene2Phenotype",
                "Expert Review Green"
            ],
            "phenotypes": [
                "LEUKOENCEPHALOPATHY MEGALENCEPHALIC WITH SUBCORTICAL CYSTS"
            ],
            "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": "3.164",
                "version_created": "2024-04-24T16:44:01.832419Z",
                "relevant_disorders": [
                    "R21",
                    "Fetal anomalies with a likely genetic cause",
                    "Fetal anomalies with a likely genetic cause - non urgent",
                    "R412"
                ],
                "stats": {
                    "number_of_genes": 1988,
                    "number_of_strs": 2,
                    "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": "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": [
                    "KIAA0833"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:18806",
                "gene_name": "calmodulin binding transcription activator 1",
                "omim_gene": [
                    "611501"
                ],
                "alias_name": null,
                "gene_symbol": "CAMTA1",
                "hgnc_symbol": "CAMTA1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:6845384-7829766",
                            "ensembl_id": "ENSG00000171735"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:6785324-7769706",
                            "ensembl_id": "ENSG00000171735"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-06-20"
            },
            "entity_type": "gene",
            "entity_name": "CAMTA1",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Amber",
                "PAGE DD-Gene2Phenotype"
            ],
            "phenotypes": [
                "CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION"
            ],
            "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": "3.164",
                "version_created": "2024-04-24T16:44:01.832419Z",
                "relevant_disorders": [
                    "R21",
                    "Fetal anomalies with a likely genetic cause",
                    "Fetal anomalies with a likely genetic cause - non urgent",
                    "R412"
                ],
                "stats": {
                    "number_of_genes": 1988,
                    "number_of_strs": 2,
                    "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": "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": [
                    "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": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "12:32832134-32898486",
                            "ensembl_id": "ENSG00000087470"
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                    },
                    "GRch38": {
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                            "location": "12:32679200-32745650",
                            "ensembl_id": "ENSG00000087470"
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                    }
                },
                "hgnc_date_symbol_changed": "2000-04-12"
            },
            "entity_type": "gene",
            "entity_name": "DNM1L",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 478,
                "hash_id": null,
                "name": "Fetal anomalies",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "3.164",
                "version_created": "2024-04-24T16:44:01.832419Z",
                "relevant_disorders": [
                    "R21",
                    "Fetal anomalies with a likely genetic cause",
                    "Fetal anomalies with a likely genetic cause - non urgent",
                    "R412"
                ],
                "stats": {
                    "number_of_genes": 1988,
                    "number_of_strs": 2,
                    "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": "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": [
                    "FLJ32844",
                    "DZIP2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26551",
                "gene_name": "DAZ interacting zinc finger protein 1 like",
                "omim_gene": [
                    "617570"
                ],
                "alias_name": null,
                "gene_symbol": "DZIP1L",
                "hgnc_symbol": "DZIP1L",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "3:137780832-137834660",
                            "ensembl_id": "ENSG00000158163"
                        }
                    },
                    "GRch38": {
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                            "location": "3:138061990-138115818",
                            "ensembl_id": "ENSG00000158163"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-02-04"
            },
            "entity_type": "gene",
            "entity_name": "DZIP1L",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Polycystic kidney disease 5, 617610"
            ],
            "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": "3.164",
                "version_created": "2024-04-24T16:44:01.832419Z",
                "relevant_disorders": [
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                    "Fetal anomalies with a likely genetic cause",
                    "Fetal anomalies with a likely genetic cause - non urgent",
                    "R412"
                ],
                "stats": {
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                    "number_of_strs": 2,
                    "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."
                    },
                    {
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                        "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:12592",
                "gene_name": "uroporphyrinogen III synthase",
                "omim_gene": [
                    "606938"
                ],
                "alias_name": [
                    "congenital erythropoietic porphyria"
                ],
                "gene_symbol": "UROS",
                "hgnc_symbol": "UROS",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:127477146-127511817",
                            "ensembl_id": "ENSG00000188690"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:125784980-125823248",
                            "ensembl_id": "ENSG00000188690"
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                    }
                },
                "hgnc_date_symbol_changed": "1991-09-13"
            },
            "entity_type": "gene",
            "entity_name": "UROS",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "PAGE DD-Gene2Phenotype"
            ],
            "phenotypes": [
                "CONGENITAL ERYTHROPOIETIC PORPHYRIA"
            ],
            "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": "3.164",
                "version_created": "2024-04-24T16:44:01.832419Z",
                "relevant_disorders": [
                    "R21",
                    "Fetal anomalies with a likely genetic cause",
                    "Fetal anomalies with a likely genetic cause - non urgent",
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                    "number_of_regions": 2
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                    {
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                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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                    {
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                    {
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                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    }
                ]
            },
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        {
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                    "SHOXY"
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                "hgnc_id": "HGNC:10853",
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                "10975527",
                "10980526",
                "15286153",
                "15930085",
                "18973245",
                "8799813",
                "9763424"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN"
            ],
            "phenotypes": [
                "Deafness, autosomal recessive 36, 609006Deafness, neurosensory, without vestibular involvement, autosomal dominant",
                "Deafness,autosomalrecessive36,609006Deafness,neurosensory,withoutvestibularinvolvement,autosomaldominant"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 126,
                "hash_id": "558ac48fbb5a16630dcfeaad",
                "name": "Monogenic hearing loss",
                "disease_group": "Hearing and ear disorders",
                "disease_sub_group": "Non-syndromic hearing loss",
                "status": "public",
                "version": "4.38",
                "version_created": "2024-04-19T12:11:20.072654Z",
                "relevant_disorders": [
                    "Hearing loss",
                    "Congenital hearing impairment",
                    "Autosomal dominant deafness",
                    "Congenital hearing impairment (profound/severe)",
                    "Non-syndromic hearing loss",
                    "R67"
                ],
                "stats": {
                    "number_of_genes": 422,
                    "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": "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)"
                    },
                    {
                        "name": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CGI-58",
                    "NCIE2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21396",
                "gene_name": "abhydrolase domain containing 5",
                "omim_gene": [
                    "604780"
                ],
                "alias_name": null,
                "gene_symbol": "ABHD5",
                "hgnc_symbol": "ABHD5",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:43731605-43775863",
                            "ensembl_id": "ENSG00000011198"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:43690113-43734371",
                            "ensembl_id": "ENSG00000011198"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-06-16"
            },
            "entity_type": "gene",
            "entity_name": "ABHD5",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Emory Genetics Laboratory"
            ],
            "phenotypes": [
                "hearing loss"
            ],
            "mode_of_inheritance": "",
            "tags": [],
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                "hash_id": "558ac48fbb5a16630dcfeaad",
                "name": "Monogenic hearing loss",
                "disease_group": "Hearing and ear disorders",
                "disease_sub_group": "Non-syndromic hearing loss",
                "status": "public",
                "version": "4.38",
                "version_created": "2024-04-19T12:11:20.072654Z",
                "relevant_disorders": [
                    "Hearing loss",
                    "Congenital hearing impairment",
                    "Autosomal dominant deafness",
                    "Congenital hearing impairment (profound/severe)",
                    "Non-syndromic hearing loss",
                    "R67"
                ],
                "stats": {
                    "number_of_genes": 422,
                    "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": "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)"
                    },
                    {
                        "name": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "LuCa-2",
                    "LUCA2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:5321",
                "gene_name": "hyaluronoglucosaminidase 2",
                "omim_gene": [
                    "603551"
                ],
                "alias_name": [
                    "lysosomal hyaluronidase",
                    "PH-20 homolog",
                    "hyaluronidase 2"
                ],
                "gene_symbol": "HYAL2",
                "hgnc_symbol": "HYAL2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:50355221-50360337",
                            "ensembl_id": "ENSG00000068001"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:50317790-50322906",
                            "ensembl_id": "ENSG00000068001"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-11-06"
            },
            "entity_type": "gene",
            "entity_name": "HYAL2",
            "confidence_level": "3",
            "penetrance": "unknown",
            "mode_of_pathogenicity": null,
            "publications": [
                "28081210"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "cleft lip/palate MONDO:0016044",
                "triatrial heart MONDO:0015450"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "gene-checked"
            ],
            "panel": {
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                "hash_id": "57acb8268f620364dc61afd3",
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                "disease_sub_group": "Dysmorphic disorders",
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                "version": "4.110",
                "version_created": "2024-04-24T15:59:12.897324Z",
                "relevant_disorders": [
                    "Familial non-syndromic cleft lip and or familial cleft palate",
                    "Familial non-syndromic clefting",
                    "Syndromic cleft lip and or cleft palate",
                    "Syndromic clefting"
                ],
                "stats": {
                    "number_of_genes": 306,
                    "number_of_strs": 0,
                    "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:9751",
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                "omim_gene": [
                    "603727"
                ],
                "alias_name": [
                    "glutamine tRNA ligase"
                ],
                "gene_symbol": "QARS",
                "hgnc_symbol": "QARS",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:49133365-49142553",
                            "ensembl_id": "ENSG00000172053"
                        }
                    },
                    "GRch38": {
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                            "location": "3:49095932-49105135",
                            "ensembl_id": "ENSG00000172053"
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                    }
                },
                "hgnc_date_symbol_changed": "1994-12-13"
            },
            "entity_type": "gene",
            "entity_name": "QARS",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "Zang et al (2014) AJHG 94, 547 558"
            ],
            "evidence": [
                "Wessex and West Midlands GLH",
                "NHS GMS",
                "NIHRBR-RD Consortium SPEED_v3.0_20170404",
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                "Expert Review",
                "Expert Review Green"
            ],
            "phenotypes": [
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            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "new-gene-name"
            ],
            "panel": {
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                "hash_id": null,
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                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Inherited Epilepsy Syndromes",
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                "version": "4.196",
                "version_created": "2024-04-24T16:35:47.828337Z",
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                    "Familial Genetic Generalised Epilepsies",
                    "Genetic Epilepsies with Febrile Seizures Plus (GEFS+)",
                    "Genetic Epilepsies with Febrile Seizures Plus",
                    "Early onset or syndromic epilepsy",
                    "Genetic epilepsy syndromes",
                    "R59"
                ],
                "stats": {
                    "number_of_genes": 828,
                    "number_of_strs": 2,
                    "number_of_regions": 17
                },
                "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."
                    },
                    {
                        "name": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
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                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "SAP-3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4367",
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                "omim_gene": [
                    "613109"
                ],
                "alias_name": [
                    "cerebroside sulfate activator protein",
                    "sphingolipid activator protein 3"
                ],
                "gene_symbol": "GM2A",
                "hgnc_symbol": "GM2A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "5:150591711-150650001",
                            "ensembl_id": "ENSG00000196743"
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                    },
                    "GRch38": {
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                            "location": "5:151212150-151270440",
                            "ensembl_id": "ENSG00000196743"
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                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "GM2A",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
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                "8900233",
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            "evidence": [
                "Wessex and West Midlands GLH",
                "NHS GMS",
                "Expert Review Green",
                "Victorian Clinical Genetics Services"
            ],
            "phenotypes": [
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                "Hexosaminidase activator deficiency",
                "Tay-Sachs disease"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 402,
                "hash_id": null,
                "name": "Early onset or syndromic epilepsy",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Inherited Epilepsy Syndromes",
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                "version": "4.196",
                "version_created": "2024-04-24T16:35:47.828337Z",
                "relevant_disorders": [
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                    "Epileptic encephalopathy",
                    "Familial Focal Epilepsies",
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                    "Genetic Epilepsies with Febrile Seizures Plus (GEFS+)",
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                    "Early onset or syndromic epilepsy",
                    "Genetic epilepsy syndromes",
                    "R59"
                ],
                "stats": {
                    "number_of_genes": 828,
                    "number_of_strs": 2,
                    "number_of_regions": 17
                },
                "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."
                    },
                    {
                        "name": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
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                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
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                    "RNF69"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8851",
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                "omim_gene": [
                    "602859"
                ],
                "alias_name": null,
                "gene_symbol": "PEX10",
                "hgnc_symbol": "PEX10",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "1:2336236-2345236",
                            "ensembl_id": "ENSG00000157911"
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                    },
                    "GRch38": {
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                            "location": "1:2403964-2413797",
                            "ensembl_id": "ENSG00000157911"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-08-05"
            },
            "entity_type": "gene",
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            "mode_of_pathogenicity": null,
            "publications": [
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                "Expert Review Amber",
                "Wessex and West Midlands GLH",
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            "panel": {
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                "hash_id": null,
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                "disease_sub_group": "Inherited Epilepsy Syndromes",
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                    "Familial Genetic Generalised Epilepsies",
                    "Genetic Epilepsies with Febrile Seizures Plus (GEFS+)",
                    "Genetic Epilepsies with Febrile Seizures Plus",
                    "Early onset or syndromic epilepsy",
                    "Genetic epilepsy syndromes",
                    "R59"
                ],
                "stats": {
                    "number_of_genes": 828,
                    "number_of_strs": 2,
                    "number_of_regions": 17
                },
                "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."
                    },
                    {
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                        "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": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
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                ]
            },
            "transcript": null
        },
        {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:23156",
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                "omim_gene": [
                    "191318"
                ],
                "alias_name": [
                    "U2 small nuclear ribonucleoprotein auxiliary factor (65kD)",
                    "splicing factor U2AF 65 kD subunit",
                    "U2 snRNP auxiliary factor large subunit"
                ],
                "gene_symbol": "U2AF2",
                "hgnc_symbol": "U2AF2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                    },
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                },
                "hgnc_date_symbol_changed": "2003-10-28"
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            "entity_type": "gene",
            "entity_name": "U2AF2",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
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            "evidence": [
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                "Q3_23_NHS_review"
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                "version": "5.544",
                "version_created": "2024-04-24T16:43:51.688324Z",
                "relevant_disorders": [
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                    "severe or profound intellectual disability",
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                    "Intellectual disability - microarray",
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                    "Intellectual disability",
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                "stats": {
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                    "number_of_regions": 62
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                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
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                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
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                        "description": "This panel is a component of a Super Panel"
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                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
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                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:23734",
                "gene_name": "pancreas specific transcription factor, 1a",
                "omim_gene": [
                    "607194"
                ],
                "alias_name": null,
                "gene_symbol": "PTF1A",
                "hgnc_symbol": "PTF1A",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                    "GRch38": {
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                },
                "hgnc_date_symbol_changed": "2003-12-04"
            },
            "entity_type": "gene",
            "entity_name": "PTF1A",
            "confidence_level": "3",
            "penetrance": "Complete",
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                "15543146",
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            "entity_type": "gene",
            "entity_name": "AHDC1",
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            "penetrance": "Complete",
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                "Expert Review Green"
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                    "severe or profound intellectual disability",
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                    "Intellectual disability",
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                    "number_of_regions": 62
                },
                "types": [
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                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
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                    },
                    {
                        "name": "GMS Rare Disease Virtual",
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                    {
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        },
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            "entity_type": "gene",
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            ],
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                "MUL",
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                    "Moderate",
                    "severe or profound intellectual disability",
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                    "Intellectual disability - microarray",
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                    "Intellectual disability",
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                "types": [
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                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
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                    {
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            "entity_type": "gene",
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                    {
                        "name": "GMS Rare Disease Virtual",
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                    {
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                ]
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        {
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                ]
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        {
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                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    },
                    {
                        "name": "GMS Rare Disease",
                        "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",
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        {
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                    {
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        {
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                "gene_name": "LDL receptor related protein 2",
                "omim_gene": [
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                "alias_name": [
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                },
                "hgnc_date_symbol_changed": "1994-05-04"
            },
            "entity_type": "gene",
            "entity_name": "LRP2",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "25682901",
                "29388841",
                "17632512"
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                "NHS GMS",
                "Expert Review Green",
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            "tags": [],
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                    "Cone Dysfunction Syndrome",
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                    "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",
                    "Sorsby retinal dystrophy",
                    "Doyne retinal dystrophy",
                    "R32"
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                "stats": {
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                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
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                "Cone-rod dystrophy 10, 610283",
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            "entity_type": "gene",
            "entity_name": "TIMP3",
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            "penetrance": "Complete",
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                "Expert Review Green"
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                        "name": "GMS Rare Disease Virtual",
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                        "description": "This is a gene panel used for research."
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}