Search Entities

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                "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": {
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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}, 604370",
                "{Pancreatic cancer, susceptibility to, 4}, 614320",
                "Hereditary Breast and Ovarian Cancer",
                "Hereditary Breast and Ovarian Cancer Syndrome",
                "Breast and Ovarian Cancer",
                "High Risk Breast Cancer",
                "Breast cancer"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 158,
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                "name": "Familial breast cancer",
                "disease_group": "Tumour syndromes",
                "disease_sub_group": "Breast and endocrine",
                "status": "public",
                "version": "1.13",
                "version_created": "2017-11-05T02:37:20.139339Z",
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                    "Familial breast and or ovarian cancer"
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                    {
                        "name": "Rare Disease 100K",
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            "transcript": null
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        {
            "gene_data": {
                "alias": [],
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                "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",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:22979255-22988031",
                            "ensembl_id": "ENSG00000173369"
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                "hgnc_date_symbol_changed": "2001-06-22"
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            "entity_type": "gene",
            "entity_name": "C1QB",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
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                "9476130",
                "17513176",
                "2894352",
                "23651859",
                "24160257",
                "25454803",
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                "24160257",
                "12133956"
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                "ClinGen",
                "Expert Review Green",
                "Other"
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            "phenotypes": [
                "Immunodeficiency due to an early component of complement deficiency",
                "ORPHA169147",
                "OMIM 613652"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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                "id": 64,
                "hash_id": "58ee38f88f62033bda307d54",
                "name": "ClinGen Gene Validity Curations",
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                "disease_sub_group": "",
                "status": "public",
                "version": "0.64",
                "version_created": "2019-06-20T15:10:34.572009Z",
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                        "name": "ClinGen Curated genes",
                        "slug": "clingen-curated-genes",
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                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11776",
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                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "TGIF1",
                "hgnc_symbol": "TGIF1",
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                "ensembl_genes": {
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                "hgnc_date_symbol_changed": "2007-01-30"
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            "entity_name": "TGIF1",
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            "evidence": [
                "Illumina TruGenome Clinical Sequencing Services"
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                "Holoprosencephaly"
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                "name": "Familial Neural Tube Defects",
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                "disease_sub_group": "",
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                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
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            "gene_data": {
                "alias": [
                    "c-fos",
                    "AP-1"
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                "hgnc_id": "HGNC:3796",
                "gene_name": "Fos proto-oncogene, AP-1 transcription factor subunit",
                "omim_gene": [
                    "164810"
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                "gene_symbol": "FOS",
                "hgnc_symbol": "FOS",
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                "ensembl_genes": {
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                            "location": "14:75745477-75748933",
                            "ensembl_id": "ENSG00000170345"
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                "Literature"
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                "id": 394,
                "hash_id": null,
                "name": "Familial Meniere Disease",
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        {
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                "alias": [
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                "hgnc_id": "HGNC:25911",
                "gene_name": "family with sequence similarity 136 member A",
                "omim_gene": [
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                "alias_name": [
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                "25305078"
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                "Expert Review Amber",
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                "Meniere disease"
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                "multifactorial",
                "watchlist"
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                    "130130"
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                    "neutrophil elastase",
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                "hgnc_date_symbol_changed": "2009-05-05"
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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": [],
            "panel": {
                "id": 407,
                "hash_id": null,
                "name": "Haematological malignancies for rare disease",
                "disease_group": "Tumour syndromes",
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                "version_created": "2019-06-20T15:11:49.421852Z",
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        {
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                "alias": [
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                "omim_gene": [
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                "Expert Review Green",
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                "fat soluble vitamin deficiency"
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        {
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                    "DXS142",
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                "omim_gene": [
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                "Expert Review Red",
                "Eligibility statement prior genetic testing"
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                "Skewed X-inactivation"
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                "hash_id": "55b7a0bb22c1fc05fd2345d1",
                "name": "Distal myopathies",
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                    {
                        "name": "Component Of Super Panel",
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                "disease_group": "Viral research",
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                "version": "1.70",
                "version_created": "2020-11-24T17:04:50.539178Z",
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                ],
                "stats": {
                    "number_of_genes": 691,
                    "number_of_strs": 0,
                    "number_of_regions": 2
                },
                "types": [
                    {
                        "name": "Research",
                        "slug": "research",
                        "description": "This is a gene panel used for research."
                    }
                ]
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "RNF53",
                    "BRCC1",
                    "PPP1R53",
                    "FANCS"
                ],
                "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": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:41196312-41277500",
                            "ensembl_id": "ENSG00000012048"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "17:43044295-43170245",
                            "ensembl_id": "ENSG00000012048"
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                    }
                },
                "hgnc_date_symbol_changed": "1991-02-20"
            },
            "entity_type": "gene",
            "entity_name": "BRCA1",
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            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "32086639",
                "32048120"
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            "evidence": [
                "Expert Review Green",
                "IUIS Classification December 2019"
            ],
            "phenotypes": [
                "Fanconi anemia, complementation group S, 617883",
                "normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage",
                "Bone marrow failure",
                "Fanconi Anemia Type S"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 111,
                "hash_id": "58c7fd7f8f6203413360f1b6",
                "name": "COVID-19 research",
                "disease_group": "Viral research",
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                "version": "1.70",
                "version_created": "2020-11-24T17:04:50.539178Z",
                "relevant_disorders": [
                    "Viral susceptibility"
                ],
                "stats": {
                    "number_of_genes": 691,
                    "number_of_strs": 0,
                    "number_of_regions": 2
                },
                "types": [
                    {
                        "name": "Research",
                        "slug": "research",
                        "description": "This is a gene panel used for research."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CD3H",
                    "CD3Q"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1677",
                "gene_name": "CD247 molecule",
                "omim_gene": [
                    "186780"
                ],
                "alias_name": null,
                "gene_symbol": "CD247",
                "hgnc_symbol": "CD247",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:167399877-167487847",
                            "ensembl_id": "ENSG00000198821"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "1:167430640-167518610",
                            "ensembl_id": "ENSG00000198821"
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                    }
                },
                "hgnc_date_symbol_changed": "2006-03-09"
            },
            "entity_type": "gene",
            "entity_name": "CD247",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
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                "17170122",
                "16672702",
                "25688246",
                "27555457",
                "https://doi.org/10.14785/lpsn-2014-0012"
            ],
            "evidence": [
                "Expert Review Green",
                "IUIS Classification February 2018",
                "SCID v1.6",
                "GOSH PID v.8.0",
                "GRID V2.0",
                "Victorian Clinical Genetics Services",
                "ESID Registry 20171117",
                "IUIS Classification February 2018",
                "Victorian Clinical Genetics Services",
                "ESID Registry 20171117",
                "GRID V2.0",
                "GOSH PID v.8.0",
                "SCID v1.6"
            ],
            "phenotypes": [
                "?Immunodeficiency 25",
                "T-B+ severe combined immunodeficiency due to CD3zeta",
                "Immunodeficiency 25, 610163",
                "Nl NK, no g/d T cells",
                "Atypical Severe Combined Immunodeficiency (Atypical SCID)",
                "Immunodeficiencies affecting cellular and humoral immunity",
                "T-B+ SCID",
                "Severe combined immunodeficiency (SCID)"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
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                "hash_id": "58c7fd7f8f6203413360f1b6",
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                "version": "1.70",
                "version_created": "2020-11-24T17:04:50.539178Z",
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                ],
                "stats": {
                    "number_of_genes": 691,
                    "number_of_strs": 0,
                    "number_of_regions": 2
                },
                "types": [
                    {
                        "name": "Research",
                        "slug": "research",
                        "description": "This is a gene panel used for research."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "MGC12435",
                    "1700010H15RiK",
                    "CILD16"
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                "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": {
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                            "location": "14:74111578-74170435",
                            "ensembl_id": "ENSG00000119661"
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                    },
                    "GRch38": {
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                            "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": "",
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            "evidence": [
                "Expert Review Red",
                "Emory Genetics Laboratory"
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            "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": "1.13",
                "version_created": "2020-10-12T13:30:46.736241Z",
                "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"
                    }
                ]
            },
            "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": {
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                            "location": "16:3701640-3767598",
                            "ensembl_id": "ENSG00000126602"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:3651639-3717597",
                            "ensembl_id": "ENSG00000126602"
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                    }
                },
                "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": [],
            "panel": {
                "id": 101,
                "hash_id": "553f9598bb5a1616e5ed45ae",
                "name": "VACTERL-like phenotypes",
                "disease_group": "Dysmorphic and congenital abnormality syndromes",
                "disease_sub_group": "Limb disorders",
                "status": "public",
                "version": "1.27",
                "version_created": "2020-09-01T10:41:06.201531Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 59,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "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": {
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                            "location": "17:7120444-7128592",
                            "ensembl_id": "ENSG00000072778"
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                    },
                    "GRch38": {
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                            "location": "17:7217125-7225273",
                            "ensembl_id": "ENSG00000072778"
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                    }
                },
                "hgnc_date_symbol_changed": "1996-05-30"
            },
            "entity_type": "gene",
            "entity_name": "ACADVL",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
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                "8739957",
                "9973285"
            ],
            "evidence": [
                "Expert Review Green",
                "Emory Genetics Laboratory",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services",
                "UKGTN"
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            "phenotypes": [
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
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                "hash_id": "55b63d7f22c1fc05fc7a185b",
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                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Neuromuscular disorders",
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                "version": "1.43",
                "version_created": "2020-10-20T15:10:47.164070Z",
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                "stats": {
                    "number_of_genes": 60,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
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                        "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)"
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                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FMRP",
                    "FRAXA",
                    "MGC87458"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3775",
                "gene_name": "fragile X mental retardation 1",
                "omim_gene": [
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                "alias_name": null,
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                "hgnc_symbol": "FMR1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                    },
                    "GRch38": {
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                            "location": "X:147911951-147951125",
                            "ensembl_id": "ENSG00000102081"
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                    }
                },
                "hgnc_date_symbol_changed": "1992-01-17"
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            "entity_type": "gene",
            "entity_name": "FMR1",
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            "publications": [],
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                "Expert Review Green"
            ],
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                "FMR1-related disorders include fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), and FMR1-related premature ovarian insufficiency (POI)",
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                "FragileXtremor/ataxiasyndrome,300623"
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            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
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            "panel": {
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                "hash_id": null,
                "name": "Ataxia and cerebellar anomalies - narrow panel",
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                "disease_sub_group": "",
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                "version": "2.31",
                "version_created": "2020-11-16T13:12:15.806262Z",
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                    "number_of_regions": 3
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                "types": [
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    },
                    {
                        "name": "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": [
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10418",
                "gene_name": "ribosomal protein S28",
                "omim_gene": [
                    "603685"
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                "alias_name": [
                    "40S ribosomal protein S28"
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                "gene_symbol": "RPS28",
                "hgnc_symbol": "RPS28",
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                            "ensembl_id": "ENSG00000233927"
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                    },
                    "GRch38": {
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                "hgnc_date_symbol_changed": "1993-12-07"
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            "entity_type": "gene",
            "entity_name": "RPS28",
            "confidence_level": "2",
            "penetrance": "Complete",
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            "publications": [
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            "evidence": [
                "Expert Review Amber",
                "Expert Review"
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            "phenotypes": [
                "Diamond Blackfan anaemia with mandibulofacial dysostosis, 606164",
                "two cases only described to date",
                "Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
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            "panel": {
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                "hash_id": "57f4dbd18f62036d37cfe4e4",
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                "disease_sub_group": "Deafness and congenital structural abnormalities",
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                "version_created": "2019-06-20T15:10:56.166309Z",
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                    "Bilateral microtia",
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                    "Ear malformations",
                    "Familial hemifacial microsomia"
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                "stats": {
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                "types": [
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                        "name": "Rare Disease 100K",
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                        "description": "Rare Disease 100K"
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                ]
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            "transcript": null
        },
        {
            "gene_data": {
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                "biotype": "protein_coding",
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                "gene_name": "ERCC excision repair 4, endonuclease catalytic subunit",
                "omim_gene": [
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                "alias_name": [
                    "xeroderma pigmentosum, complementation group F"
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                "gene_symbol": "ERCC4",
                "hgnc_symbol": "ERCC4",
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                "ensembl_genes": {
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                },
                "hgnc_date_symbol_changed": "2001-06-22"
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            "entity_type": "gene",
            "entity_name": "ERCC4",
            "confidence_level": "3",
            "penetrance": "Complete",
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                "Expert Review Green",
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            "phenotypes": [
                "Fanconi anemia, complementation group Q, 615272",
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                "Xeroderma pigmentosum, group F, 278760"
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            "panel": {
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                "hash_id": "55af539322c1fc78a9ef5052",
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                "version_created": "2020-09-30T13:43:03.169538Z",
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                    "R359"
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                        "name": "Rare Disease 100K",
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                    {
                        "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)"
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                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "D11S812E",
                    "AN",
                    "WAGR"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8620",
                "gene_name": "paired box 6",
                "omim_gene": [
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                "alias_name": [
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                },
                "hgnc_date_symbol_changed": "1986-01-01"
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            "penetrance": "Complete",
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                "Expert Review Red",
                "UKGTN",
                "Emory Genetics Laboratory",
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                "Aniridia, 106210",
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                "Gillespie syndrome, 206700",
                "Keratitis, 148190",
                "Optic nerve hypoplasia, 165550",
                "Peters anomaly, 604229",
                "Wagner Syndrome",
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                "PAX6-related Disorders",
                "Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome"
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                    {
                        "name": "GMS Cancer Germline Virtual",
                        "slug": "gms-cancer-germline-virtual",
                        "description": "This is a panel used for WGS germline analysis for the GMS."
                    },
                    {
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                    },
                    {
                        "name": "GMS Rare Disease",
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                ]
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                    "NR3C4",
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                    "HUMARA"
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                "gene_name": "androgen receptor",
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                "hgnc_symbol": "AR",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                        "82": {
                            "location": "X:66764465-66950461",
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                    "GRch38": {
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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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                "Expert list"
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                ]
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                "hgnc_date_symbol_changed": "1992-03-24"
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                "hgnc_id": "HGNC:12726",
                "gene_name": "von Willebrand factor",
                "omim_gene": [
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                "alias_name": null,
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                            "location": "12:6058040-6233936",
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                "Expert review Red",
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                "version_created": "2020-10-15T19:25:34.548233Z",
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                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
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                    },
                    {
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                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
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                ]
            },
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        },
        {
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                    "HSP60"
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                "omim_gene": [
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                            "location": "2:198351305-198381461",
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                    },
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                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
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                ]
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                    "B56delta"
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                    "Weaver syndrome"
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                "hgnc_id": "HGNC:9719",
                "gene_name": "peroxisomal biogenesis factor 5",
                "omim_gene": [
                    "600414"
                ],
                "alias_name": [
                    "peroxisomal targeting signal 1 receptor",
                    "peroxisomal import receptor 5"
                ],
                "gene_symbol": "PEX5",
                "hgnc_symbol": "PEX5",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:7341281-7371170",
                            "ensembl_id": "ENSG00000139197"
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                    "GRch38": {
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                            "location": "12:7188685-7218574",
                            "ensembl_id": "ENSG00000139197"
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                },
                "hgnc_date_symbol_changed": "2004-03-19"
            },
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            "penetrance": null,
            "mode_of_pathogenicity": "",
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            ],
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                "Expert Review Green",
                "London North GLH",
                "NHS GMS"
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                "Disorders of peroxisome biogenesis",
                "Peroxisome biogenesis disorder 2A (Zellweger)"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 467,
                "hash_id": null,
                "name": "Inborn errors of metabolism",
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                    "Likely inborn error of metabolism - targeted testing not possible",
                    "Likely inborn error of metabolism",
                    "R98"
                ],
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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."
                    },
                    {
                        "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": {
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                    "MOCOD"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7190",
                "gene_name": "molybdenum cofactor synthesis 1",
                "omim_gene": [
                    "603707"
                ],
                "alias_name": null,
                "gene_symbol": "MOCS1",
                "hgnc_symbol": "MOCS1",
                "hgnc_release": "2017-11-03",
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                            "location": "6:39867354-39902290",
                            "ensembl_id": "ENSG00000124615"
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                "hgnc_date_symbol_changed": "1998-07-23"
            },
            "entity_type": "gene",
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                "27604308",
                "9731530",
                "12754701"
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                "London North GLH",
                "NHS GMS"
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                "Molybdenum cofactor deficiency A 252150"
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            "panel": {
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                "hash_id": null,
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                "disease_group": "",
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                    "Likely inborn error of metabolism - targeted testing not possible",
                    "Likely inborn error of metabolism",
                    "R98"
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                "types": [
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
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                    {
                        "name": "Component Of Super Panel",
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                    {
                        "name": "GMS signed-off",
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                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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            },
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        {
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                "gene_name": "GDP-mannose pyrophosphorylase B",
                "omim_gene": [
                    "615320"
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                "alias_name": [
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                "gene_symbol": "GMPPB",
                "hgnc_symbol": "GMPPB",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                        "82": {
                            "location": "3:49754277-49761384",
                            "ensembl_id": "ENSG00000173540"
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                "hgnc_date_symbol_changed": "2005-01-10"
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            "entity_type": "gene",
            "entity_name": "GMPPB",
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            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green"
            ],
            "phenotypes": [
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14"
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            "tags": [],
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                "id": 467,
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                    "Likely inborn error of metabolism",
                    "R98"
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                },
                "types": [
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
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                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "AGGG",
                    "CI-AGGG"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7697",
                "gene_name": "NADH:ubiquinone oxidoreductase subunit B2",
                "omim_gene": [
                    "603838"
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                "alias_name": [
                    "NADH-ubiquinone oxidoreductase AGGG subunit",
                    "complex I AGGG subunit"
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                "gene_symbol": "NDUFB2",
                "hgnc_symbol": "NDUFB2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "7:140390577-140422590",
                            "ensembl_id": "ENSG00000090266"
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                    "GRch38": {
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                            "location": "7:140690777-140722790",
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                },
                "hgnc_date_symbol_changed": "1996-11-15"
            },
            "entity_type": "gene",
            "entity_name": "NDUFB2",
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            "penetrance": null,
            "mode_of_pathogenicity": "",
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                "Expert Review Amber",
                "NHS GMS"
            ],
            "phenotypes": [
                "No OMIM phenotype"
            ],
            "mode_of_inheritance": "Unknown",
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            "panel": {
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                "hash_id": null,
                "name": "Possible mitochondrial disorder - nuclear genes",
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                "version_created": "2020-11-16T16:20:34.348263Z",
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                    "R63"
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                "stats": {
                    "number_of_genes": 374,
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                    "number_of_regions": 0
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                "types": [
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                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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                ]
            },
            "transcript": null
        },
        {
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                "alias": [
                    "NPD002",
                    "MGC14452"
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                "biotype": "protein_coding",
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                "gene_name": "acyl-CoA dehydrogenase family member 9",
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                    "611103"
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                "alias_name": null,
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                    },
                    "GRch38": {
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                            "location": "3:128879596-128916067",
                            "ensembl_id": "ENSG00000177646"
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                },
                "hgnc_date_symbol_changed": "2003-06-18"
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            "entity_type": "gene",
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                "NHS GMS",
                "Expert Review Green"
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            "phenotypes": [
                "Mitochondrial complex I deficiency, nuclear type 20, 611126"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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            "panel": {
                "id": 539,
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                "stats": {
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                "types": [
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "DSPG1",
                    "SLRR1A"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1044",
                "gene_name": "biglycan",
                "omim_gene": [
                    "301870"
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                "alias_name": [
                    "biglycan proteoglycan"
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                "gene_symbol": "BGN",
                "hgnc_symbol": "BGN",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "X:152760397-152775012",
                            "ensembl_id": "ENSG00000182492"
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                    },
                    "GRch38": {
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                            "location": "X:153494939-153509554",
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                },
                "hgnc_date_symbol_changed": "1989-07-18"
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            "entity_type": "gene",
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            "penetrance": "Complete",
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                "27632686"
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            "evidence": [
                "NHS GMS",
                "Expert Review Green",
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            "phenotypes": [
                "Meester-Loeys syndrome, 300989"
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            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
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            "panel": {
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                    "Classical Ehlers Danlos Syndrome",
                    "Classical Ehlers-Danlos Syndrome",
                    "Ehlers-Danlos Syndrome (unusual phenotypes e.g. absent pain sense)",
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                    "Kyphoscoliotic Ehlers-Danlos syndrome",
                    "EDS",
                    "Ehlers-Danlos syndromes",
                    "R101"
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                "stats": {
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                },
                "types": [
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                        "name": "Rare Disease 100K",
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                        "name": "GMS Rare Disease",
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                    },
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                        "name": "GMS Rare Disease Virtual",
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        },
        {
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                "biotype": "protein_coding",
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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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                "hgnc_symbol": "UROS",
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                "gene_name": "megalencephalic leukoencephalopathy with subcortical cysts 1",
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                    "Autosomal dominant deafness",
                    "Congenital hearing impairment (profound/severe)",
                    "R67"
                ],
                "stats": {
                    "number_of_genes": 388,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    },
                    {
                        "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": [
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                    "LUCA2"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:5321",
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                "omim_gene": [
                    "603551"
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                "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"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-11-06"
            },
            "entity_type": "gene",
            "entity_name": "HYAL2",
            "confidence_level": "0",
            "penetrance": "unknown",
            "mode_of_pathogenicity": null,
            "publications": [
                "28081210"
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            "evidence": [
                "Literature"
            ],
            "phenotypes": [
                "Cleft lip and palate, cor triatriatum"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
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                "hash_id": "57acb8268f620364dc61afd3",
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                "disease_group": "Dysmorphic and congenital abnormality syndromes",
                "disease_sub_group": "Dysmorphic disorders",
                "status": "public",
                "version": "2.8",
                "version_created": "2020-11-11T16:26:41.250856Z",
                "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": 261,
                    "number_of_strs": 0,
                    "number_of_regions": 5
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                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "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": [
                    "SAP-3"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4367",
                "gene_name": "GM2 ganglioside activator",
                "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": {
                    "GRch37": {
                        "82": {
                            "location": "5:150591711-150650001",
                            "ensembl_id": "ENSG00000196743"
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                    },
                    "GRch38": {
                        "90": {
                            "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": [
                "26203402",
                "8900233",
                "10364519",
                "26203402"
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            "evidence": [
                "Wessex and West Midlands GLH",
                "NHS GMS",
                "Expert Review Green",
                "Victorian Clinical Genetics Services"
            ],
            "phenotypes": [
                "GM2-gangliosidosis, AB variant, 272750",
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                "Hexosaminidase activator deficiency",
                "Tay-Sachs disease"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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                "hash_id": null,
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                "disease_sub_group": "Inherited Epilepsy Syndromes",
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                "version": "2.225",
                "version_created": "2020-11-24T11:33:42.379900Z",
                "relevant_disorders": [
                    "Epilepsy Plus",
                    "Epilepsy plus other features",
                    "Genetic Epilepsy Syndromes",
                    "Epileptic encephalopathy",
                    "Familial Focal Epilepsies",
                    "Familial Genetic Generalised Epilepsies",
                    "Genetic Epilepsies with Febrile Seizures Plus (GEFS+)",
                    "Genetic Epilepsies with Febrile Seizures Plus",
                    "Early onset or syndromic epilepsy",
                    "R59"
                ],
                "stats": {
                    "number_of_genes": 699,
                    "number_of_strs": 2,
                    "number_of_regions": 15
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "RNF69"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8851",
                "gene_name": "peroxisomal biogenesis factor 10",
                "omim_gene": [
                    "602859"
                ],
                "alias_name": null,
                "gene_symbol": "PEX10",
                "hgnc_symbol": "PEX10",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "1:2336236-2345236",
                            "ensembl_id": "ENSG00000157911"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "1:2403964-2413797",
                            "ensembl_id": "ENSG00000157911"
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                },
                "hgnc_date_symbol_changed": "1998-08-05"
            },
            "entity_type": "gene",
            "entity_name": "PEX10",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
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                "28784167"
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            "evidence": [
                "Expert Review Amber",
                "Wessex and West Midlands GLH",
                "NHS GMS",
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            "phenotypes": [
                "Peroxisome biogenesis disorder 6A (Zellweger) 614870"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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            "panel": {
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                "version": "2.225",
                "version_created": "2020-11-24T11:33:42.379900Z",
                "relevant_disorders": [
                    "Epilepsy Plus",
                    "Epilepsy plus other features",
                    "Genetic Epilepsy Syndromes",
                    "Epileptic encephalopathy",
                    "Familial Focal Epilepsies",
                    "Familial Genetic Generalised Epilepsies",
                    "Genetic Epilepsies with Febrile Seizures Plus (GEFS+)",
                    "Genetic Epilepsies with Febrile Seizures Plus",
                    "Early onset or syndromic epilepsy",
                    "R59"
                ],
                "stats": {
                    "number_of_genes": 699,
                    "number_of_strs": 2,
                    "number_of_regions": 15
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9751",
                "gene_name": "glutaminyl-tRNA synthetase",
                "omim_gene": [
                    "603727"
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                "alias_name": [
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                "gene_symbol": "QARS",
                "hgnc_symbol": "QARS",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "3:49133365-49142553",
                            "ensembl_id": "ENSG00000172053"
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                    },
                    "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"
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            "evidence": [
                "Wessex and West Midlands GLH",
                "NHS GMS",
                "NIHRBR-RD Consortium SPEED_v3.0_20170404",
                "Victorian Clinical Genetics Services",
                "Expert Review",
                "Expert Review Green"
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            "phenotypes": [
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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            "panel": {
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                    "Genetic Epilepsies with Febrile Seizures Plus (GEFS+)",
                    "Genetic Epilepsies with Febrile Seizures Plus",
                    "Early onset or syndromic epilepsy",
                    "R59"
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                "stats": {
                    "number_of_genes": 699,
                    "number_of_strs": 2,
                    "number_of_regions": 15
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    },
                    {
                        "name": "GMS signed-off",
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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
        },
        {
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                "alias": [
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                    "RP1-159A19.1"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25230",
                "gene_name": "AT-hook DNA binding motif containing 1",
                "omim_gene": [
                    "615790"
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                "alias_name": null,
                "gene_symbol": "AHDC1",
                "hgnc_symbol": "AHDC1",
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                "ensembl_genes": {
                    "GRch37": {
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                    },
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                    }
                },
                "hgnc_date_symbol_changed": "2005-07-21"
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            "entity_type": "gene",
            "entity_name": "AHDC1",
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            "penetrance": "Complete",
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            "publications": [
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                "types": [
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                        "name": "Rare Disease 100K",
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                        "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",
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                        "description": "This panel is a component of a Super Panel"
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                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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                ]
            },
            "transcript": null
        },
        {
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                "hgnc_date_symbol_changed": "2001-11-30"
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            "entity_type": "gene",
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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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            "transcript": null
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        {
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                "hgnc_symbol": "U2AF2",
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                "hgnc_date_symbol_changed": "2003-10-28"
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            "entity_type": "gene",
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                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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                "hgnc_symbol": "PTF1A",
                "hgnc_release": "2017-11-03T00:00:00",
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                    "GRch37": {
                        "82": {
                            "location": "10:23481256-23483181",
                            "ensembl_id": "ENSG00000168267"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "10:23192327-23194252",
                            "ensembl_id": "ENSG00000168267"
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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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            "publications": [
                "21749365",
                "15543146",
                "10507728"
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            "evidence": [
                "Expert Review Green"
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            "phenotypes": [
                "DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS"
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            "panel": {
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                "name": "Intellectual disability",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Neurodevelopmental disorders",
                "status": "public",
                "version": "3.568",
                "version_created": "2020-11-24T12:48:13.629264Z",
                "relevant_disorders": [
                    "Coarse facial features including Coffin-Siris-like disorders",
                    "ID",
                    "Moderate",
                    "severe or profound intellectual disability",
                    "Schizophrenia plus additional features",
                    "Intellectual disability - microarray",
                    "fragile X and sequencing",
                    "R29"
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                "stats": {
                    "number_of_genes": 2439,
                    "number_of_strs": 11,
                    "number_of_regions": 57
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    },
                    {
                        "name": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
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                    "FLJ11856",
                    "PAR1",
                    "GPCR41",
                    "D15Ertd747e",
                    "RFVT2",
                    "hRFT3"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:30224",
                "gene_name": "solute carrier family 52 member 2",
                "omim_gene": [
                    "607882"
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                "gene_symbol": "SLC52A2",
                "hgnc_symbol": "SLC52A2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "8:145577795-145584932",
                            "ensembl_id": "ENSG00000185803"
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                            "location": "8:144354135-144361272",
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                "hgnc_date_symbol_changed": "2012-02-29"
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            "entity_type": "gene",
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            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "NHS GMS",
                "Wessex and West Midlands GLH"
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                "Bwon-Vialetto-Van Laere syndrome 2, 614707"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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                "disease_sub_group": "",
                "status": "public",
                "version": "2.17",
                "version_created": "2020-11-12T17:30:44.787148Z",
                "relevant_disorders": [
                    "Hereditary ataxia with onset in adulthood",
                    "R54"
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                "stats": {
                    "number_of_genes": 238,
                    "number_of_strs": 14,
                    "number_of_regions": 4
                },
                "types": [
                    {
                        "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": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
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                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "SIGMA1B"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:560",
                "gene_name": "adaptor related protein complex 1 sigma 2 subunit",
                "omim_gene": [
                    "300629"
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                "alias_name": null,
                "gene_symbol": "AP1S2",
                "hgnc_symbol": "AP1S2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:15843929-15873054",
                            "ensembl_id": "ENSG00000182287"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "X:15825806-15854931",
                            "ensembl_id": "ENSG00000182287"
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                    }
                },
                "hgnc_date_symbol_changed": "2000-09-01"
            },
            "entity_type": "gene",
            "entity_name": "AP1S2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "NHS GMS",
                "Wessex and West Midlands GLH",
                "Expert Review Green",
                "Hereditary ataxia v1.148"
            ],
            "phenotypes": [
                "Mental retardation, X-linked syndromic 5, 304340",
                "Pettigrew syndrome"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
            "tags": [],
            "panel": {
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                "hash_id": null,
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                "version": "2.17",
                "version_created": "2020-11-12T17:30:44.787148Z",
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                    "Hereditary ataxia with onset in adulthood",
                    "R54"
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                "stats": {
                    "number_of_genes": 238,
                    "number_of_strs": 14,
                    "number_of_regions": 4
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                "types": [
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                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    },
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    }
                ]
            },
            "transcript": null
        },
        {
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                    "PAP1",
                    "PAP",
                    "HASPP28"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14634",
                "gene_name": "PDGFA associated protein 1",
                "omim_gene": [
                    "607075"
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                "alias_name": [
                    "PDGF associated protein"
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                "gene_symbol": "PDAP1",
                "hgnc_symbol": "PDAP1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "7:98989671-99006452",
                            "ensembl_id": "ENSG00000106244"
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                    "GRch38": {
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                            "location": "7:99392048-99408829",
                            "ensembl_id": "ENSG00000106244"
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                },
                "hgnc_date_symbol_changed": "2001-02-15"
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            "entity_type": "gene",
            "entity_name": "PDAP1",
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            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Red"
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            "phenotypes": [
                "Retinitis Pigmentosa"
            ],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 307,
                "hash_id": "56e0238b22c1fc09c97a6e46",
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                    "Cone Dysfunction Syndrome",
                    "Developmental macular and foveal dystrophy",
                    "Inherited macular dystrophy",
                    "Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy",
                    "Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy",
                    "Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy",
                    "Rod Dysfunction Syndrome",
                    "Rod-cone dystrophy",
                    "Familial exudative vitreoretinopathy",
                    "Familial exudative retinopathy",
                    "R32",
                    "R33",
                    "R34",
                    "R35"
                ],
                "stats": {
                    "number_of_genes": 389,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
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                    },
                    {
                        "name": "GMS signed-off",
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                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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                ]
            },
            "transcript": null
        },
        {
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                    "gp330",
                    "DBS"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6694",
                "gene_name": "LDL receptor related protein 2",
                "omim_gene": [
                    "600073"
                ],
                "alias_name": [
                    "megalin"
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                "gene_symbol": "LRP2",
                "hgnc_symbol": "LRP2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "2:169983619-170219195",
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                    },
                    "GRch38": {
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                            "location": "2:169127109-169362685",
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                    }
                },
                "hgnc_date_symbol_changed": "1994-05-04"
            },
            "entity_type": "gene",
            "entity_name": "LRP2",
            "confidence_level": "3",
            "penetrance": "Complete",
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            "publications": [
                "25682901",
                "29388841",
                "17632512"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "BRIDGE consortium (NIHRBR-RD)"
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            "phenotypes": [
                "Donnai-Barrow syndrome 222448"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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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",
                    "R32",
                    "R33",
                    "R34",
                    "R35"
                ],
                "stats": {
                    "number_of_genes": 389,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    },
                    {
                        "name": "GMS signed-off",
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                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "SemB",
                    "FLJ12287",
                    "CORD10"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10729",
                "gene_name": "semaphorin 4A",
                "omim_gene": [
                    "607292"
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                "alias_name": null,
                "gene_symbol": "SEMA4A",
                "hgnc_symbol": "SEMA4A",
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                "ensembl_genes": {
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                },
                "hgnc_date_symbol_changed": "2004-04-22"
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            "entity_type": "gene",
            "entity_name": "SEMA4A",
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            "penetrance": "Complete",
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                "16199541"
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            "evidence": [
                "Expert Review Amber",
                "NHS GMS"
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                "Achromatopsia, Cone, and Cone-rod Dystrophy",
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                "Cone-rod dystrophy 10, 610283",
                "Retinitis pigmentosa 35, 610282",
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                "Retinitis pigmentosa"
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            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
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            "panel": {
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                    "Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy",
                    "Rod Dysfunction Syndrome",
                    "Rod-cone dystrophy",
                    "Familial exudative vitreoretinopathy",
                    "Familial exudative retinopathy",
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                    "R33",
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                "stats": {
                    "number_of_genes": 389,
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                    "number_of_regions": 0
                },
                "types": [
                    {
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                        "description": "Rare Disease 100K"
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                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
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                    {
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                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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        {
            "gene_data": {
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                "hgnc_symbol": "TIMP3",
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            "entity_type": "gene",
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            "mode_of_pathogenicity": "Other - please provide details in the comments",
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                    "number_of_regions": 0
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                        "name": "Rare Disease 100K",
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        {
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                "NHS GMS",
                "Expert Review Amber"
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                "alias_name": null,
                "gene_symbol": "GYS1",
                "hgnc_symbol": "GYS1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:49471382-49496567",
                            "ensembl_id": "ENSG00000104812"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:48968125-48993310",
                            "ensembl_id": "ENSG00000104812"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-08-25"
            },
            "entity_type": "gene",
            "entity_name": "GYS1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "30847515"
            ],
            "evidence": [
                "Next Generation Children Project",
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Glycogen storage disease 0, muscle, 611556"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 921,
                "hash_id": null,
                "name": "Severe Paediatric Disorders",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.20",
                "version_created": "2020-11-24T17:05:33.062627Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 2691,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Research",
                        "slug": "research",
                        "description": "This is a gene panel used for research."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "SPAX2",
                    "SPG58"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6317",
                "gene_name": "kinesin family member 1C",
                "omim_gene": [
                    "603060"
                ],
                "alias_name": null,
                "gene_symbol": "KIF1C",
                "hgnc_symbol": "KIF1C",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:4901243-4931696",
                            "ensembl_id": "ENSG00000129250"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:4997948-5028401",
                            "ensembl_id": "ENSG00000129250"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-09-25"
            },
            "entity_type": "gene",
            "entity_name": "KIF1C",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "30847515"
            ],
            "evidence": [
                "Next Generation Children Project",
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Spastic ataxia 2, autosomal recessive, 611302"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 921,
                "hash_id": null,
                "name": "Severe Paediatric Disorders",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.20",
                "version_created": "2020-11-24T17:05:33.062627Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 2691,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Research",
                        "slug": "research",
                        "description": "This is a gene panel used for research."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": null,
            "entity_type": "region",
            "entity_name": "ISCA-37393-Gain",
            "verbose_name": "22q11.21 recurrent (Cat eye syndrome) region (includes CECR2) Gain",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "haploinsufficiency_score": "",
            "triplosensitivity_score": "3",
            "required_overlap_percentage": 80,
            "type_of_variants": "cnv_gain",
            "publications": [
                "22890013",
                "11693792",
                "22495764"
            ],
            "evidence": [
                "ClinGen",
                "Expert Review Green"
            ],
            "phenotypes": [
                "115470",
                "PMID 22890013: variable phenotype including developmental delay, ocular coloboma, preauricular tags/pits, cleft palate, skeletal defects, heart defects, urogenital defect, anal defect, hearing loss, clinodactyly of fifth fingers, umbilical hernia, accessory spleen, strabismus, shortening of the fifth finger. PMID 22495764: Inter and intra individual variability of phenotype, mosaic. PMID 11693792: preauricular skin tags and pits, downslanting palpebral fissures, hypertelorism, ectopic anus, hypospadias, and hypoplastic left heart syndrome"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "chromosome": "22",
            "grch37_coordinates": null,
            "grch38_coordinates": [
                16912063,
                18109094
            ],
            "tags": [],
            "panel": {
                "id": 509,
                "hash_id": null,
                "name": "Structural eye disease",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.15",
                "version_created": "2020-11-11T16:33:35.196724Z",
                "relevant_disorders": [
                    "R36"
                ],
                "stats": {
                    "number_of_genes": 461,
                    "number_of_strs": 0,
                    "number_of_regions": 2
                },
                "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 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."
                    }
                ]
            }
        }
    ]
}