Search Entities

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                "alias": [
                    "PGK",
                    "PKG"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9414",
                "gene_name": "protein kinase, cGMP-dependent, type I",
                "omim_gene": [
                    "176894"
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                "alias_name": null,
                "gene_symbol": "PRKG1",
                "hgnc_symbol": "PRKG1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "10:52750945-54058110",
                            "ensembl_id": "ENSG00000185532"
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                },
                "hgnc_date_symbol_changed": "1991-07-17"
            },
            "entity_type": "gene",
            "entity_name": "PRKG1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "ClinGen"
            ],
            "phenotypes": [
                "Familial thoracic aortic aneurysm and aortic dissection"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
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                "hash_id": "594be3878f62037ee3e7e72f",
                "name": "ClinGen_Familial thoracic aortic aneurysm and aortic dissection",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "0.10",
                "version_created": "2017-11-05T02:37:20.232365Z",
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                    {
                        "name": "ClinGen Curated genes",
                        "slug": "clingen-curated-genes",
                        "description": "ClinGen Curated genes"
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                ]
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        {
            "gene_data": {
                "alias": [
                    "cSVP",
                    "CD156B"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:195",
                "gene_name": "ADAM metallopeptidase domain 17",
                "omim_gene": [
                    "603639"
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                "alias_name": null,
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                "hgnc_symbol": "ADAM17",
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                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:9628615-9695921",
                            "ensembl_id": "ENSG00000151694"
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                },
                "hgnc_date_symbol_changed": "1997-04-10"
            },
            "entity_type": "gene",
            "entity_name": "ADAM17",
            "confidence_level": "2",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
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                "22010916",
                "functional/mouse model evidence that ADAM17 deficiency leads to colitis - 22236242, 27077118, 21041656, 20603312,19299578"
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                "Expert Review Amber",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN",
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                "ADAM-17 deficiency",
                "Inflammatory skin and bowel disease, neonatal, 1 614328"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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                "name": "Infantile enterocolitis & monogenic inflammatory bowel disease",
                "disease_group": "Gastroenterological disorders",
                "disease_sub_group": "Gastrointestinal disorders",
                "status": "public",
                "version": "1.18",
                "version_created": "2020-08-25T15:46:05.746487Z",
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                    "Infantile enterocolitis and monogenic inflammatory bowel disease"
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                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
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                ]
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        {
            "gene_data": {
                "alias": [
                    "DKFZp586C1924",
                    "OPA7"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25382",
                "gene_name": "transmembrane protein 126A",
                "omim_gene": [
                    "612988"
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                "alias_name": null,
                "gene_symbol": "TMEM126A",
                "hgnc_symbol": "TMEM126A",
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                            "location": "11:85359011-85367591",
                            "ensembl_id": "ENSG00000171202"
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                "hgnc_date_symbol_changed": "2006-02-13"
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            "entity_type": "gene",
            "entity_name": "TMEM126A",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Emory Genetics Laboratory"
            ],
            "phenotypes": [
                "Eye Disorders"
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            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 249,
                "hash_id": "55507b25bb5a161bf644a3b2",
                "name": "Glaucoma (developmental)",
                "disease_group": "Ophthalmological disorders",
                "disease_sub_group": "Anterior segment abnormalities",
                "status": "public",
                "version": "1.9",
                "version_created": "2020-10-06T15:56:05.473412Z",
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                "stats": {
                    "number_of_genes": 232,
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                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
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                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CYB560",
                    "cybL"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10682",
                "gene_name": "succinate dehydrogenase complex subunit C",
                "omim_gene": [
                    "602413"
                ],
                "alias_name": [
                    "succinate dehydrogenase cytochrome b560 subunit",
                    "succinate dehydrgenase cytochrome b",
                    "large subunit of cytochrome b"
                ],
                "gene_symbol": "SDHC",
                "hgnc_symbol": "SDHC",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:161284047-161332984",
                            "ensembl_id": "ENSG00000143252"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "1:161314257-161375340",
                            "ensembl_id": "ENSG00000143252"
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                },
                "hgnc_date_symbol_changed": "1997-10-21"
            },
            "entity_type": "gene",
            "entity_name": "SDHC",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [],
            "evidence": [
                "Expert list",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Familial Paraganglioma and Pheochromocytoma"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 391,
                "hash_id": null,
                "name": "Adult solid tumours for rare disease",
                "disease_group": "Tumour syndromes",
                "disease_sub_group": "Tumour syndromes",
                "status": "public",
                "version": "1.22",
                "version_created": "2019-06-20T15:10:02.142139Z",
                "relevant_disorders": [
                    "Young adult onset cancer",
                    "Exceptionally young adult onset cancer",
                    "Multiple Tumours",
                    "Rare tumour predisposition syndromes"
                ],
                "stats": {
                    "number_of_genes": 58,
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                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
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                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ11712"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25671",
                "gene_name": "ribonuclease H2 subunit B",
                "omim_gene": [
                    "610326"
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                "alias_name": null,
                "gene_symbol": "RNASEH2B",
                "hgnc_symbol": "RNASEH2B",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "13:51483814-51544592",
                            "ensembl_id": "ENSG00000136104"
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                    "GRch38": {
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                "hgnc_date_symbol_changed": "2006-08-17"
            },
            "entity_type": "gene",
            "entity_name": "RNASEH2B",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "IUIS Classification February 2018",
                "London North GLH",
                "NHS GMS",
                "GRID V2.0",
                "Victorian Clinical Genetics Services",
                "North West GLH",
                "ESID Registry 20171117",
                "Expert Review Green",
                "NHS GMS",
                "North West GLH",
                "London North GLH",
                "IUIS Classification February 2018",
                "Victorian Clinical Genetics Services",
                "Expert Review Green",
                "ESID Registry 20171117",
                "GRID V2.0"
            ],
            "phenotypes": [
                "Aicardi-Goutieres syndrome 2 610181",
                "Autoinflammatory Disorders",
                "Type 1 interferonopathies",
                "Classical AGS, SP"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 111,
                "hash_id": "58c7fd7f8f6203413360f1b6",
                "name": "COVID-19 research",
                "disease_group": "Viral research",
                "disease_sub_group": "",
                "status": "public",
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                "version_created": "2020-11-24T17:04:50.539178Z",
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                    "Viral susceptibility"
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                        "name": "Research",
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                        "description": "This is a gene panel used for research."
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            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "NY-REN-64"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17967",
                "gene_name": "interleukin 1 receptor associated kinase 4",
                "omim_gene": [
                    "606883"
                ],
                "alias_name": null,
                "gene_symbol": "IRAK4",
                "hgnc_symbol": "IRAK4",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:44152747-44183346",
                            "ensembl_id": "ENSG00000198001"
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                            "location": "12:43758944-43789543",
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                "hgnc_date_symbol_changed": "2002-09-27"
            },
            "entity_type": "gene",
            "entity_name": "IRAK4",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "17878374",
                "17114497",
                "12637671",
                "16950813"
            ],
            "evidence": [
                "IUIS Classification February 2018",
                "London North GLH",
                "NHS GMS",
                "GRID V2.0",
                "Victorian Clinical Genetics Services",
                "North West GLH",
                "ESID Registry 20171117",
                "Expert Review Green",
                "NHS GMS",
                "North West GLH",
                "London North GLH",
                "IUIS Classification February 2018",
                "Victorian Clinical Genetics Services",
                "Expert Review Green",
                "ESID Registry 20171117",
                "GRID V2.0"
            ],
            "phenotypes": [
                "Defects with susceptibility to mycobacterial infection (MSMD)",
                "Defects of TLR/NFkappa-B signalling",
                "Invasive pneumococcal disease, recurrent isolated, 1, 6107",
                "IRAK4 deficiency, 610799",
                "Defects in Intrinsic and Innate Immunity",
                "Bacterial infections (pyogens)"
            ],
            "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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                "status": "public",
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                "version_created": "2020-11-24T17:04:50.539178Z",
                "relevant_disorders": [
                    "Viral susceptibility"
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                "types": [
                    {
                        "name": "Research",
                        "slug": "research",
                        "description": "This is a gene panel used for research."
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                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "VPS4",
                    "VPS4-1",
                    "FLJ22197",
                    "SKD2",
                    "SKD1",
                    "SKD1A"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13488",
                "gene_name": "vacuolar protein sorting 4 homolog A",
                "omim_gene": [
                    "609982"
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                "alias_name": null,
                "gene_symbol": "VPS4A",
                "hgnc_symbol": "VPS4A",
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                "ensembl_genes": {
                    "GRch37": {
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                            "location": "16:69345259-69358949",
                            "ensembl_id": "ENSG00000132612"
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                    "GRch38": {
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                            "ensembl_id": "ENSG00000132612"
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                    }
                },
                "hgnc_date_symbol_changed": "2002-06-12"
            },
            "entity_type": "gene",
            "entity_name": "VPS4A",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "17928862",
                "30615963"
            ],
            "evidence": [
                "OMIM"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "Unknown",
            "tags": [],
            "panel": {
                "id": 111,
                "hash_id": "58c7fd7f8f6203413360f1b6",
                "name": "COVID-19 research",
                "disease_group": "Viral research",
                "disease_sub_group": "",
                "status": "public",
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                "version_created": "2020-11-24T17:04:50.539178Z",
                "relevant_disorders": [
                    "Viral susceptibility"
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                    "number_of_strs": 0,
                    "number_of_regions": 2
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                "types": [
                    {
                        "name": "Research",
                        "slug": "research",
                        "description": "This is a gene panel used for research."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ22559",
                    "bA541N10.2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26200",
                "gene_name": "STN1, CST complex subunit",
                "omim_gene": [
                    "613128"
                ],
                "alias_name": null,
                "gene_symbol": "STN1",
                "hgnc_symbol": "STN1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "10:105642300-105677963",
                            "ensembl_id": "ENSG00000107960"
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                    "GRch38": {
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                            "location": "10:103882542-103918205",
                            "ensembl_id": "ENSG00000107960"
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                    }
                },
                "hgnc_date_symbol_changed": "2016-10-04"
            },
            "entity_type": "gene",
            "entity_name": "STN1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "32086639",
                "32048120"
            ],
            "evidence": [
                "Expert Review Green",
                "IUIS Classification December 2019",
                "IUIS Classification February 2018",
                "IUIS Classification December 2019",
                "IUIS Classification February 2018"
            ],
            "phenotypes": [
                "Combined immunodeficiencies with associated or syndromic features",
                "Intrauterine growth retardation, premature aging, pancytopenia, hypocellular bone marrow, gastrointestinal hemorrhage due to vascular ectasia, intracranial calcification, abnormal telomeres",
                "Bone marrow failure"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 111,
                "hash_id": "58c7fd7f8f6203413360f1b6",
                "name": "COVID-19 research",
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                "disease_sub_group": "",
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                "version_created": "2020-11-24T17:04:50.539178Z",
                "relevant_disorders": [
                    "Viral susceptibility"
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                "stats": {
                    "number_of_genes": 691,
                    "number_of_strs": 0,
                    "number_of_regions": 2
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                "types": [
                    {
                        "name": "Research",
                        "slug": "research",
                        "description": "This is a gene panel used for research."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "DP3",
                    "PDGB",
                    "PKGB",
                    "DPIII"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6207",
                "gene_name": "junction plakoglobin",
                "omim_gene": [
                    "173325"
                ],
                "alias_name": null,
                "gene_symbol": "JUP",
                "hgnc_symbol": "JUP",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:39775692-39943183",
                            "ensembl_id": "ENSG00000173801"
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                    "GRch38": {
                        "90": {
                            "location": "17:41754604-41786931",
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                },
                "hgnc_date_symbol_changed": "1991-03-04"
            },
            "entity_type": "gene",
            "entity_name": "JUP",
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            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "20130592",
                "10902626",
                "21668431"
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            "evidence": [
                "Expert Review Green"
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            "phenotypes": [
                "WOOLLY HAIR, PALMOPLANTAR KERATODERMA, AND CARDIAC ABNORMALITIES",
                "PALMOPLANTAR KERATODERMA WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR",
                "palmoplantar keratoderma (PPK), keratoderma with woolly hair",
                "Naxos disease, 601214",
                "KERATOSIS PALMOPLANTARIS WITH ARRHYTHMOGENIC CARDIOMYOPATHY"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 555,
                "hash_id": null,
                "name": "Ichthyosis and erythrokeratoderma",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.4",
                "version_created": "2020-10-15T19:12:43.003505Z",
                "relevant_disorders": [
                    "R165"
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                "stats": {
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                    "number_of_strs": 0,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6416",
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                    "148066"
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                },
                "hgnc_date_symbol_changed": "1992-04-09"
            },
            "entity_type": "gene",
            "entity_name": "KRT14",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "1717157",
                "10733662",
                "1720261",
                "7682883",
                "7506606",
                "16098032",
                "12485428",
                "16960809",
                "7526933",
                "7525408",
                "7561171"
            ],
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                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "Eligibility statement prior genetic testing"
            ],
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                "Epidermolysis bullosa simplex, Dowling-Meara type (AD), 131760",
                "Epidermolysis bullosa simplex, Koebner type (AD), 131900",
                "Epidermolysis Bullosa Simplex, Generalized",
                "Epidermolysis bullosa simplex, Weber-Cockayne type (AD), 131800",
                "Epidermolysis Bullosa Simplex, Localized",
                "Naegeli-Franceschetti-Jadassohn syndrome (AD), 161000",
                "Epidermolysis bullosa simplex, recessive 1 (AR), 601001",
                "Dermatopathia pigmentosa reticularis (AD), 125595"
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            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
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            "panel": {
                "id": 119,
                "hash_id": "56310b9a22c1fc58285b282c",
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                "disease_sub_group": "Skin fragility disorders",
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                "version": "1.6",
                "version_created": "2019-01-07T16:40:38.182703Z",
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                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            },
            "transcript": null
        },
        {
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                    "KEN",
                    "KIAA0402",
                    "PCN",
                    "PCNTB",
                    "SCKL4"
                ],
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                "hgnc_id": "HGNC:16068",
                "gene_name": "pericentrin",
                "omim_gene": [
                    "605925"
                ],
                "alias_name": [
                    "kendrin",
                    "Seckel syndrome 4"
                ],
                "gene_symbol": "PCNT",
                "hgnc_symbol": "PCNT",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "21:47744036-47865682",
                            "ensembl_id": "ENSG00000160299"
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                    },
                    "GRch38": {
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                            "location": "21:46324122-46445769",
                            "ensembl_id": "ENSG00000160299"
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                    }
                },
                "hgnc_date_symbol_changed": "2005-11-03"
            },
            "entity_type": "gene",
            "entity_name": "PCNT",
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            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
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            ],
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                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                "Illumina TruGenome Clinical Sequencing Services",
                "Literature"
            ],
            "phenotypes": [
                "Microcephalic osteodysplastic primordial dwarfism, type II\t210720",
                "Osteodysplastic Primordial Dwarfism of Majewski Tyoe 2",
                "Severe Insulin Resistance"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
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                "hash_id": "55b2109c22c1fc7dd7ce411f",
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                "disease_group": "Endocrine disorders",
                "disease_sub_group": "Disorders of unusual phenotypes",
                "status": "public",
                "version": "1.11",
                "version_created": "2019-06-20T15:15:09.915719Z",
                "relevant_disorders": [
                    "Insulin resistance (including lipodystrophy"
                ],
                "stats": {
                    "number_of_genes": 26,
                    "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": [
                    "CANP"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:24200",
                "gene_name": "family with sequence similarity 111 member B",
                "omim_gene": [
                    "615584"
                ],
                "alias_name": null,
                "gene_symbol": "FAM111B",
                "hgnc_symbol": "FAM111B",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:58874658-58894883",
                            "ensembl_id": "ENSG00000189057"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:59107185-59127410",
                            "ensembl_id": "ENSG00000189057"
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                    }
                },
                "hgnc_date_symbol_changed": "2006-02-06"
            },
            "entity_type": "gene",
            "entity_name": "FAM111B",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "24268661"
            ],
            "evidence": [
                "Expert Review Red"
            ],
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                "Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonaryfibrosis, 615704 (3)"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 465,
                "hash_id": null,
                "name": "Neuromuscular disorders",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "5.62",
                "version_created": "2020-11-24T17:05:59.072565Z",
                "relevant_disorders": [
                    "Other rare neuromuscular disorders",
                    "R381"
                ],
                "stats": {
                    "number_of_genes": 422,
                    "number_of_strs": 6,
                    "number_of_regions": 8
                },
                "types": [
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    },
                    {
                        "name": "Super Panel",
                        "slug": "superpanel",
                        "description": "Superpanel"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "MDA-5",
                    "Hlcd",
                    "MDA5",
                    "IDDM19"
                ],
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                "hgnc_id": "HGNC:18873",
                "gene_name": "interferon induced with helicase C domain 1",
                "omim_gene": [
                    "606951"
                ],
                "alias_name": [
                    "helicard",
                    "melanoma differentiation-associated gene 5"
                ],
                "gene_symbol": "IFIH1",
                "hgnc_symbol": "IFIH1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:163123589-163175213",
                            "ensembl_id": "ENSG00000115267"
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                    },
                    "GRch38": {
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                            "location": "2:162267079-162318703",
                            "ensembl_id": "ENSG00000115267"
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                    }
                },
                "hgnc_date_symbol_changed": "2004-06-25"
            },
            "entity_type": "gene",
            "entity_name": "IFIH1",
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            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "24995871",
                "24686847",
                "25604658"
            ],
            "evidence": [
                "Expert Review Green"
            ],
            "phenotypes": [
                "Aicardi-Goutieres Syndrome",
                "General Leukodystrophy & Mitochondrial Leukoencephalopathy",
                "Aicardi-Goutieres syndrome 7, 615846",
                "Aicardi-Goutieres syndrome 7",
                "Aicardi-Gouti res, isolated spasticity, bilateral striatal necrosis"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
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                "hash_id": null,
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                "disease_sub_group": "",
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                "version": "1.26",
                "version_created": "2020-11-17T11:13:39.847630Z",
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                    "number_of_genes": 220,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    },
                    {
                        "name": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    },
                    {
                        "name": "GMS signed-off",
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                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
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                    "PAFAH",
                    "NudF"
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                "hgnc_id": "HGNC:8574",
                "gene_name": "platelet activating factor acetylhydrolase 1b regulatory subunit 1",
                "omim_gene": [
                    "601545"
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                "alias_name": [
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                "hgnc_symbol": "PAFAH1B1",
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                    }
                },
                "hgnc_date_symbol_changed": "1998-04-03"
            },
            "entity_type": "gene",
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            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green"
            ],
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                "Cerebral Malformation Disorders",
                "Lissencephaly/Subcortical Band Heterotopia"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
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                "hash_id": null,
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                "disease_sub_group": "",
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                "version": "1.26",
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                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
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                    },
                    {
                        "name": "Component Of Super Panel",
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                        "description": "This panel is a component of a Super Panel"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    }
                ]
            },
            "transcript": null
        },
        {
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                "alias": [
                    "FLJ10504",
                    "LST005",
                    "MST",
                    "misato"
                ],
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                "hgnc_id": "HGNC:29678",
                "gene_name": "misato 1, mitochondrial distribution and morphology regulator",
                "omim_gene": [
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                "hgnc_symbol": "MSTO1",
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                "hgnc_date_symbol_changed": "2005-07-19"
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                "Myopathy, mitochondrial, and ataxia, MIM#\t617675"
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            "panel": {
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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": "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",
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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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                "hgnc_date_symbol_changed": "2000-09-01"
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            "panel": {
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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": "Component Of Super Panel",
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                    {
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                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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                ]
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        {
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                "NHS GMS"
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                    {
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        {
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                        "name": "Rare Disease 100K",
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        {
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                    {
                        "name": "GMS Rare Disease Virtual",
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                    {
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                    },
                    {
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                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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                ]
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        },
        {
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                            "location": "15:68499330-68549549",
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                "Wessex and West Midlands GLH",
                "Expert Review Green",
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            "panel": {
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                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    },
                    {
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                        "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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                "hgnc_date_symbol_changed": "1993-10-27"
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                "Expert Review Green"
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                "Noonan syndrome"
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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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                    "Aicardi-Goutieres syndrome 3"
                ],
                "gene_symbol": "RNASEH2C",
                "hgnc_symbol": "RNASEH2C",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:65482367-65488418",
                            "ensembl_id": "ENSG00000172922"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "11:65714896-65720947",
                            "ensembl_id": "ENSG00000172922"
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                    }
                },
                "hgnc_date_symbol_changed": "2006-08-17"
            },
            "entity_type": "gene",
            "entity_name": "RNASEH2C",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
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                "17846997",
                "23322642",
                "25604658"
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            "evidence": [
                "NHS GMS",
                "North West GLH",
                "London North GLH",
                "IUIS Classification February 2018",
                "Victorian Clinical Genetics Services",
                "Expert Review Green",
                "ESID Registry 20171117",
                "GRID V2.0"
            ],
            "phenotypes": [
                "Aicardi-Goutieres syndrome 3 610329",
                "Type 1 interferonopathies",
                "Classical AGS",
                "Autoinflammatory Disorders"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 398,
                "hash_id": null,
                "name": "Primary immunodeficiency",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "2.379",
                "version_created": "2020-11-24T17:03:41.291683Z",
                "relevant_disorders": [
                    "Primary immunodeficiency disorders",
                    "A- or hypo-gammaglobulinaemia",
                    "Congenital neutropaenia",
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                    "Combined B and T cell defect",
                    "Inherited complement deficiency",
                    "SCID",
                    "Primary immune disorder",
                    "Primary immunodeficiency",
                    "A-gammaglobulinaemia",
                    "Agammaglobulinaemia",
                    "hypo-gammaglobulinaemia",
                    "hypogammaglobulinemia",
                    "immune deficiency syndromes",
                    "Severe combined immunodeficiency",
                    "Congenital neutopenia",
                    "Familial haemophagocytic lymphohistiocytic disorders",
                    "Familial hemophagocytic lymphohistiocytic disorders",
                    "PID",
                    "Sepsis",
                    "Disseminated non-tuberculous mycobacterial infection",
                    "R15"
                ],
                "stats": {
                    "number_of_genes": 482,
                    "number_of_strs": 0,
                    "number_of_regions": 2
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "GYF1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9126",
                "gene_name": "GRB10 interacting GYF protein 1",
                "omim_gene": [
                    "612064"
                ],
                "alias_name": [
                    "GYF domain containing 1"
                ],
                "gene_symbol": "GIGYF1",
                "hgnc_symbol": "GIGYF1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:100277130-100287071",
                            "ensembl_id": "ENSG00000146830"
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                    },
                    "GRch38": {
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                            "location": "7:100679507-100689448",
                            "ensembl_id": "ENSG00000146830"
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                    }
                },
                "hgnc_date_symbol_changed": "2008-02-11"
            },
            "entity_type": "gene",
            "entity_name": "GIGYF1",
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            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "SFARI"
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            "phenotypes": [],
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            "tags": [],
            "panel": {
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                "hash_id": null,
                "name": "Autism",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "0.16",
                "version_created": "2020-07-07T11:06:19.866782Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 735,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Research",
                        "slug": "research",
                        "description": "This is a gene panel used for research."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CDA-II",
                    "CDAII",
                    "HEMPAS"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10702",
                "gene_name": "Sec23 homolog B, coat complex II component",
                "omim_gene": [
                    "610512"
                ],
                "alias_name": null,
                "gene_symbol": "SEC23B",
                "hgnc_symbol": "SEC23B",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                        "82": {
                            "location": "20:18488137-18542059",
                            "ensembl_id": "ENSG00000101310"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "20:18507493-18561415",
                            "ensembl_id": "ENSG00000101310"
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                    }
                },
                "hgnc_date_symbol_changed": "2000-01-07"
            },
            "entity_type": "gene",
            "entity_name": "SEC23B",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "19621418",
                "19561605"
            ],
            "evidence": [
                "Expert Review Green",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                "UKGTN"
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            "phenotypes": [
                "Congenital dyserythropoietic anemia type II",
                "Congenital Dyserythropoietic Anemia",
                "Anemia, dyserythropoieticcongenital, type II, 224100",
                "ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 159,
                "hash_id": "58a70e858f62037e8779b2e8",
                "name": "Cytopenias and congenital anaemias",
                "disease_group": "Haematological disorders",
                "disease_sub_group": "Anaemias and red cell disorders",
                "status": "public",
                "version": "1.78",
                "version_created": "2020-10-12T13:43:18.895582Z",
                "relevant_disorders": [
                    "Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria",
                    "Apparent aplastic anaemia or paroxysmal nocturnal haemoglobinuria",
                    "Congenital anaemias",
                    "Early onset pancytopenia and red cell disorders",
                    "Anaemias and red cell disorders",
                    "Cytopaenias and congenital anaemias",
                    "Cytopenia and pancytopenia"
                ],
                "stats": {
                    "number_of_genes": 219,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:618",
                "gene_name": "apolipoprotein L1",
                "omim_gene": [
                    "603743"
                ],
                "alias_name": null,
                "gene_symbol": "APOL1",
                "hgnc_symbol": "APOL1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "22:36649056-36663576",
                            "ensembl_id": "ENSG00000100342"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "22:36253010-36267530",
                            "ensembl_id": "ENSG00000100342"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-12-03"
            },
            "entity_type": "gene",
            "entity_name": "APOL1",
            "confidence_level": "1",
            "penetrance": "Complete",
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            "publications": [],
            "evidence": [
                "Eligibility statement prior genetic testing"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 156,
                "hash_id": "5693974122c1fc251660fb1f",
                "name": "Unexplained kidney failure in young people",
                "disease_group": "Renal and urinary tract disorders",
                "disease_sub_group": "Disorders of function",
                "status": "public",
                "version": "1.92",
                "version_created": "2020-10-20T07:50:41.064006Z",
                "relevant_disorders": [
                    "Familial IgA nephropathy and IgA vasculitis",
                    "End-stage renal disease - childhood onset"
                ],
                "stats": {
                    "number_of_genes": 169,
                    "number_of_strs": 0,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FAAP250"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:23168",
                "gene_name": "Fanconi anemia complementation group M",
                "omim_gene": [
                    "609644"
                ],
                "alias_name": null,
                "gene_symbol": "FANCM",
                "hgnc_symbol": "FANCM",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:45605143-45670093",
                            "ensembl_id": "ENSG00000187790"
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                    },
                    "GRch38": {
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                            "location": "14:45135940-45200890",
                            "ensembl_id": "ENSG00000187790"
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                    }
                },
                "hgnc_date_symbol_changed": "2005-09-01"
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            "entity_type": "gene",
            "entity_name": "FANCM",
            "confidence_level": "2",
            "penetrance": "Complete",
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            "publications": [
                "27881370",
                "28297620"
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            "evidence": [
                "Expert Review Amber",
                "Curated sources"
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            "phenotypes": [
                "Class: BM failure FA, (typ AR)",
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                "MDS",
                "AML",
                "Bone marrow failure",
                "Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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                "disease_group": "Cancer Programme",
                "disease_sub_group": "Pertinent cancer susceptibility gene panel",
                "status": "public",
                "version": "2.5",
                "version_created": "2020-09-17T12:30:54.336146Z",
                "relevant_disorders": [
                    "Haemonc",
                    "Haematological malignancies pertinent cancer susceptibility"
                ],
                "stats": {
                    "number_of_genes": 93,
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                    "number_of_regions": 0
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                "types": [
                    {
                        "name": "Cancer Germline 100K",
                        "slug": "cancer-germline-100k",
                        "description": "Cancer Germline 100K"
                    },
                    {
                        "name": "GMS Cancer Germline Virtual",
                        "slug": "gms-cancer-germline-virtual",
                        "description": "This is a panel used for WGS germline analysis for the GMS."
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "MGC10922",
                    "DKFZP762D096",
                    "NBIA4",
                    "MPAN"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25443",
                "gene_name": "chromosome 19 open reading frame 12",
                "omim_gene": [
                    "614297"
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                "alias_name": [
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                ],
                "gene_symbol": "C19orf12",
                "hgnc_symbol": "C19orf12",
                "hgnc_release": "2017-11-03",
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                    }
                },
                "hgnc_date_symbol_changed": "2004-02-11"
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            "entity_type": "gene",
            "entity_name": "C19orf12",
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                "Expert Review Green",
                "London North GLH"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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                "version_created": "2020-08-25T10:04:39.046067Z",
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                    "Inherited optic neuropathies",
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                    "R42.2"
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                    "number_of_regions": 0
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                "types": [
                    {
                        "name": "Rare Disease 100K",
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                        "description": "Rare Disease 100K"
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                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
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                ]
            },
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        },
        {
            "gene_data": {
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                "biotype": "protein_coding",
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                "hgnc_symbol": "COL12A1",
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            "entity_type": "gene",
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                "NHS GMS",
                "London South GLH",
                "Expert Review Green",
                "Expert Review"
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                "Ullrich congenital muscular dystrophy 2",
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            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
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                    {
                        "name": "GMS Rare Disease",
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                    {
                        "name": "Component Of Super Panel",
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                        "description": "This panel is a component of a Super Panel"
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                    {
                        "name": "GMS signed-off",
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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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            "entity_type": "gene",
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                "NHS GMS",
                "Expert Review Green",
                "Expert Review"
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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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            "entity_type": "gene",
            "entity_name": "DMRT1",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "26139570"
            ],
            "evidence": [
                "Expert Review Red",
                "UKGTN"
            ],
            "phenotypes": [
                "Gender Assignment Gene Panel (UKGTN)"
            ],
            "mode_of_inheritance": "Unknown",
            "tags": [],
            "panel": {
                "id": 9,
                "hash_id": "569380ac22c1fc251660faf8",
                "name": "Disorders of sex development",
                "disease_group": "Endocrine disorders",
                "disease_sub_group": "Gonadal and sex development disorders",
                "status": "public",
                "version": "2.11",
                "version_created": "2020-09-22T13:29:48.295870Z",
                "relevant_disorders": [
                    "R146"
                ],
                "stats": {
                    "number_of_genes": 63,
                    "number_of_strs": 0,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CANP3",
                    "p94",
                    "nCL-1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1480",
                "gene_name": "calpain 3",
                "omim_gene": [
                    "114240"
                ],
                "alias_name": null,
                "gene_symbol": "CAPN3",
                "hgnc_symbol": "CAPN3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:42640301-42704516",
                            "ensembl_id": "ENSG00000092529"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:42359500-42412318",
                            "ensembl_id": "ENSG00000092529"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1989-06-30"
            },
            "entity_type": "gene",
            "entity_name": "CAPN3",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "http://www.ncbi.nlm.nih.gov/books/NBK1408/",
                "32994280"
            ],
            "evidence": [
                "Expert Review Green",
                "Eligibility statement prior genetic testing",
                "Illumina TruGenome Clinical Sequencing Services",
                "",
                "Emory Genetics Laboratory",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Muscular dystrophy, limb-girdle, type 2A, 253600",
                "Limb-Girdle Muscular Dystrophy, Recessive",
                "Limb-girdle muscular dystrophy"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 185,
                "hash_id": "55b7a65322c1fc05fc7a1869",
                "name": "Limb girdle muscular dystrophy",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Neuromuscular disorders",
                "status": "public",
                "version": "2.8",
                "version_created": "2020-10-06T12:49:45.896166Z",
                "relevant_disorders": [
                    "R82"
                ],
                "stats": {
                    "number_of_genes": 91,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    },
                    {
                        "name": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    },
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "BLU",
                    "CILD22"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:19412",
                "gene_name": "zinc finger MYND-type containing 10",
                "omim_gene": [
                    "607070"
                ],
                "alias_name": null,
                "gene_symbol": "ZMYND10",
                "hgnc_symbol": "ZMYND10",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:50378541-50384283",
                            "ensembl_id": "ENSG00000004838"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:50341110-50346852",
                            "ensembl_id": "ENSG00000004838"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-05-01"
            },
            "entity_type": "gene",
            "entity_name": "ZMYND10",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Ciliary dyskinesia, primary, 22, 615444"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 178,
                "hash_id": "55a76be222c1fc6710839b9f",
                "name": "Primary ciliary disorders",
                "disease_group": "Ciliopathies",
                "disease_sub_group": "Respiratory ciliopathies",
                "status": "public",
                "version": "1.26",
                "version_created": "2020-10-20T15:15:13.868590Z",
                "relevant_disorders": [
                    "Primary ciliary dyskinesia"
                ],
                "stats": {
                    "number_of_genes": 143,
                    "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": [
                    "FAAH",
                    "FLJ25287"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21197",
                "gene_name": "fatty acid 2-hydroxylase",
                "omim_gene": [
                    "611026"
                ],
                "alias_name": [
                    "fatty acid hydroxylase"
                ],
                "gene_symbol": "FA2H",
                "hgnc_symbol": "FA2H",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:74746853-74808729",
                            "ensembl_id": "ENSG00000103089"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:74712955-74774831",
                            "ensembl_id": "ENSG00000103089"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-10-31"
            },
            "entity_type": "gene",
            "entity_name": "FA2H",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "19068277",
                "20853438"
            ],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "London North GLH",
                "Expert Review Green",
                "Expert list",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Spastic paraplegia 35, autosomal recessive, 612319"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 568,
                "hash_id": null,
                "name": "Hereditary spastic paraplegia - childhood onset",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "2.19",
                "version_created": "2020-10-08T09:35:49.586685Z",
                "relevant_disorders": [
                    "Childhood onset hereditary spastic paraplegia",
                    "R61"
                ],
                "stats": {
                    "number_of_genes": 113,
                    "number_of_strs": 10,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CD16",
                    "CD16b"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3620",
                "gene_name": "Fc fragment of IgG receptor IIIb",
                "omim_gene": [
                    "610665"
                ],
                "alias_name": [
                    "Fc gamma receptor IIIb"
                ],
                "gene_symbol": "FCGR3B",
                "hgnc_symbol": "FCGR3B",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:161592986-161601753",
                            "ensembl_id": "ENSG00000162747"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:161623196-161631963",
                            "ensembl_id": "ENSG00000162747"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-08-21"
            },
            "entity_type": "gene",
            "entity_name": "FCGR3B",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Amber",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "Neutropenia,alloimmuneneonatal"
            ],
            "mode_of_inheritance": "Other - please specify in evaluation comments",
            "tags": [],
            "panel": {
                "id": 519,
                "hash_id": null,
                "name": "Cytopenia - NOT Fanconi anaemia",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.30",
                "version_created": "2020-10-15T19:25:34.548233Z",
                "relevant_disorders": [
                    "R91"
                ],
                "stats": {
                    "number_of_genes": 123,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "EZH1",
                    "ENX-1",
                    "KMT6",
                    "KMT6A"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3527",
                "gene_name": "enhancer of zeste 2 polycomb repressive complex 2 subunit",
                "omim_gene": [
                    "601573"
                ],
                "alias_name": null,
                "gene_symbol": "EZH2",
                "hgnc_symbol": "EZH2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:148504475-148581413",
                            "ensembl_id": "ENSG00000106462"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:148807383-148884321",
                            "ensembl_id": "ENSG00000106462"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-12-21"
            },
            "entity_type": "gene",
            "entity_name": "EZH2",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "23592277",
                "22177091",
                "23865096",
                "24214728",
                "22190405"
            ],
            "evidence": [
                "Radboud University Medical Center, Nijmegen",
                "UKGTN",
                "Expert Review Green",
                "Illumina TruGenome Clinical Sequencing Services",
                "Eligibility statement exclusion criteria"
            ],
            "phenotypes": [
                "Weaver syndrome",
                "Weaver syndrome 2",
                "Weaver syndrome, 277590",
                "Weaver Syndrome"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)",
            "tags": [],
            "panel": {
                "id": 38,
                "hash_id": "56fa8eb88f62030f36e3026b",
                "name": "Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders",
                "disease_group": "Growth disorders",
                "disease_sub_group": "Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders",
                "status": "public",
                "version": "1.101",
                "version_created": "2020-10-05T09:41:11.873538Z",
                "relevant_disorders": [
                    "Atypical Beckwith-Wiedemann syndrome",
                    "Classical Beckwith-Wiedemann syndrome",
                    "Simpson-Golabi-Behmel syndrome",
                    "Sotos syndrome",
                    "Weaver syndrome"
                ],
                "stats": {
                    "number_of_genes": 29,
                    "number_of_strs": 0,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "NMMHCA",
                    "NMHC-II-A",
                    "MHA",
                    "FTNS",
                    "EPSTS"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7579",
                "gene_name": "myosin heavy chain 9",
                "omim_gene": [
                    "160775"
                ],
                "alias_name": [
                    "nonmuscle myosin heavy chain II-A"
                ],
                "gene_symbol": "MYH9",
                "hgnc_symbol": "MYH9",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "22:36677327-36784063",
                            "ensembl_id": "ENSG00000100345"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "22:36281281-36388018",
                            "ensembl_id": "ENSG00000100345"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1990-03-12"
            },
            "entity_type": "gene",
            "entity_name": "MYH9",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green"
            ],
            "phenotypes": [
                "Epstein syndrome 153650",
                "Fechtner syndrome 153640"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 678,
                "hash_id": null,
                "name": "Unexplained paediatric onset end-stage renal disease",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.11",
                "version_created": "2020-10-20T15:34:52.954930Z",
                "relevant_disorders": [
                    "R257"
                ],
                "stats": {
                    "number_of_genes": 231,
                    "number_of_strs": 0,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "SDR38C1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11257",
                "gene_name": "sepiapterin reductase",
                "omim_gene": [
                    "182125"
                ],
                "alias_name": [
                    "short chain dehydrogenase/reductase family 38C, member 1",
                    "Sepiapterin reductase (L-erythro-7,8-dihydrobiopterin forming)"
                ],
                "gene_symbol": "SPR",
                "hgnc_symbol": "SPR",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:73114489-73119287",
                            "ensembl_id": "ENSG00000116096"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:72887360-72892158",
                            "ensembl_id": "ENSG00000116096"
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                    }
                },
                "hgnc_date_symbol_changed": "1991-12-05"
            },
            "entity_type": "gene",
            "entity_name": "SPR",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "http://www.ncbi.nlm.nih.gov/books/NBK1155/",
                "22522443"
            ],
            "evidence": [
                "Expert Review Red",
                "Wessex and West Midlands GLH",
                "Yorkshire and North East GLH",
                "NHS GMS",
                "London North GLH"
            ],
            "phenotypes": [
                "paediatric form of dopa responsive dystonia",
                "Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716",
                "Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716",
                "Dopa-Responsive Dystonia"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [
                "treatable"
            ],
            "panel": {
                "id": 474,
                "hash_id": null,
                "name": "Neurodegenerative disorders - adult onset",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "2.33",
                "version_created": "2020-11-20T16:01:34.605299Z",
                "relevant_disorders": [
                    "R58"
                ],
                "stats": {
                    "number_of_genes": 400,
                    "number_of_strs": 16,
                    "number_of_regions": 4
                },
                "types": [
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "GBA1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4177",
                "gene_name": "glucosylceramidase beta",
                "omim_gene": [
                    "606463"
                ],
                "alias_name": null,
                "gene_symbol": "GBA",
                "hgnc_symbol": "GBA",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:155204243-155214490",
                            "ensembl_id": "ENSG00000177628"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:155234452-155244699",
                            "ensembl_id": "ENSG00000177628"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "GBA",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "29400127",
                "27779773",
                "15525722",
                "17620502",
                "27648471",
                "27632223",
                "27717005"
            ],
            "evidence": [
                "Wessex and West Midlands GLH",
                "Expert Review Amber",
                "Yorkshire and North East GLH",
                "NHS GMS",
                "London North GLH"
            ],
            "phenotypes": [
                "{Parkinson disease, late-onset, susceptibility to}, 168600",
                "Gaucher disease, type I, 230800"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [
                "treatable"
            ],
            "panel": {
                "id": 474,
                "hash_id": null,
                "name": "Neurodegenerative disorders - adult onset",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "2.33",
                "version_created": "2020-11-20T16:01:34.605299Z",
                "relevant_disorders": [
                    "R58"
                ],
                "stats": {
                    "number_of_genes": 400,
                    "number_of_strs": 16,
                    "number_of_regions": 4
                },
                "types": [
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
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            },
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        {
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                    "p62",
                    "p60",
                    "p62B",
                    "A170"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11280",
                "gene_name": "sequestosome 1",
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                    "601530"
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                "alias_name": null,
                "gene_symbol": "SQSTM1",
                "hgnc_symbol": "SQSTM1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "5:179233388-179265078",
                            "ensembl_id": "ENSG00000161011"
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                            "ensembl_id": "ENSG00000161011"
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                "hgnc_date_symbol_changed": "2000-06-13"
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            "entity_type": "gene",
            "entity_name": "SQSTM1",
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            "mode_of_pathogenicity": "",
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                "22972638"
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                "London North GLH"
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                "id": 474,
                "hash_id": null,
                "name": "Neurodegenerative disorders - adult onset",
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                "disease_sub_group": "",
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                "version": "2.33",
                "version_created": "2020-11-20T16:01:34.605299Z",
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                    "number_of_strs": 16,
                    "number_of_regions": 4
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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)"
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                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
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                ]
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        {
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                    "ATX2"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10555",
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                "omim_gene": [
                    "601517"
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                "alias_name": [
                    "trinucleotide repeat containing 13"
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                "gene_symbol": "ATXN2",
                "hgnc_symbol": "ATXN2",
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                "ensembl_genes": {
                    "GRch37": {
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                            "location": "12:111890018-112037480",
                            "ensembl_id": "ENSG00000204842"
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                    "GRch38": {
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                            "location": "12:111452214-111599676",
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                "hgnc_date_symbol_changed": "2004-08-13"
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            "entity_type": "gene",
            "entity_name": "ATXN2",
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            "mode_of_pathogenicity": "",
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                "Yorkshire and North East GLH",
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                "Expert Review Red"
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                "currently-ngs-unreportable"
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                "name": "Neurodegenerative disorders - adult onset",
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                "disease_sub_group": "",
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                "version_created": "2020-11-20T16:01:34.605299Z",
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                    "number_of_regions": 4
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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)"
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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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                    {
                        "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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            "transcript": null
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        {
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                    "cblG"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7468",
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                "omim_gene": [
                    "156570"
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                "hgnc_symbol": "MTR",
                "hgnc_release": "2017-11-03T00:00:00",
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                            "location": "1:236958610-237067281",
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                            "location": "1:236795281-236903981",
                            "ensembl_id": "ENSG00000116984"
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                },
                "hgnc_date_symbol_changed": "1986-01-01"
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            "entity_type": "gene",
            "entity_name": "MTR",
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            "penetrance": "Complete",
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            "publications": [
                "27604308"
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                "Expert Review Green",
                "Emory Genetics Laboratory",
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            "phenotypes": [
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                "version_created": "2020-11-20T16:02:31.811651Z",
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                    "number_of_regions": 1
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                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
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        {
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                    "SCHAD"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4799",
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                "hgnc_date_symbol_changed": "2001-06-22"
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            "penetrance": "Complete",
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                "23430856",
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                "26316438",
                "27181376"
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                "3-hydroxyacyl-CoA dehydrogenase deficiency 231530",
                "Hyperinsulinemic hypoglycemia, familial, 4 609975"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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            "panel": {
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                "hash_id": "5763f1518f620350a22bccdb",
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                "disease_sub_group": "Specific metabolic abnormalities",
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                "version_created": "2020-11-20T16:02:31.811651Z",
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                    "number_of_genes": 749,
                    "number_of_strs": 1,
                    "number_of_regions": 1
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                "types": [
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                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
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        {
            "gene_data": {
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                "biotype": "protein_coding",
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                "hgnc_symbol": "SC5D",
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                            "location": "11:121163162-121179403",
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                            "location": "11:121292453-121308694",
                            "ensembl_id": "ENSG00000109929"
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                "hgnc_date_symbol_changed": "2013-03-04"
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            "entity_type": "gene",
            "entity_name": "SC5D",
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                "12812989",
                "30097991"
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                "Lathosterolosis (Disorders of sterol biosynthesis)",
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                "Intellectual disability"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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            "panel": {
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                "disease_group": "Metabolic disorders",
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                "version_created": "2020-11-20T16:02:31.811651Z",
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                    "Undiagnosed Metabolic Panel"
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                    "number_of_genes": 749,
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                        "name": "Rare Disease 100K",
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                        "description": "Rare Disease 100K"
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        {
            "gene_data": {
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                            "location": "1:1407143-1433228",
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                            "location": "1:1471769-1497848",
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                    "Likely inborn error of metabolism",
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                "types": [
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                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
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                        "name": "Component Of Super Panel",
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            "transcript": null
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        {
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                "hgnc_date_symbol_changed": "2004-05-10"
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                "15105459"
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                        "name": "GMS Rare Disease Virtual",
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                        "name": "Component Of Super Panel",
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                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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            "transcript": null
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        {
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                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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            "transcript": null
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        {
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                "London North GLH",
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                "Expert Review Red"
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                "version_created": "2020-11-20T16:03:07.748963Z",
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                    "Likely inborn error of metabolism - targeted testing not possible",
                    "Likely inborn error of metabolism",
                    "R98"
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                "stats": {
                    "number_of_genes": 895,
                    "number_of_strs": 2,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
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                    {
                        "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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                ]
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            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ38663",
                    "SPG55"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26784",
                "gene_name": "chromosome 12 open reading frame 65",
                "omim_gene": [
                    "613541"
                ],
                "alias_name": null,
                "gene_symbol": "C12orf65",
                "hgnc_symbol": "C12orf65",
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                            "location": "12:123717463-123742506",
                            "ensembl_id": "ENSG00000130921"
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                    "GRch38": {
                        "90": {
                            "location": "12:123232916-123257959",
                            "ensembl_id": "ENSG00000130921"
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                    }
                },
                "hgnc_date_symbol_changed": "2007-02-26"
            },
            "entity_type": "gene",
            "entity_name": "C12orf65",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Combined oxidative phosphorylation deficiency 7, 613559",
                "Spastic paraplegia 55, autosomal recessive, 615035"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 539,
                "hash_id": null,
                "name": "Possible mitochondrial disorder - nuclear genes",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.21",
                "version_created": "2020-11-16T16:20:34.348263Z",
                "relevant_disorders": [
                    "R63"
                ],
                "stats": {
                    "number_of_genes": 374,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "NifS",
                    "IscS"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:15910",
                "gene_name": "NFS1, cysteine desulfurase",
                "omim_gene": [
                    "603485"
                ],
                "alias_name": null,
                "gene_symbol": "NFS1",
                "hgnc_symbol": "NFS1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "20:34255977-34287281",
                            "ensembl_id": "ENSG00000244005"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "20:35668055-35699359",
                            "ensembl_id": "ENSG00000244005"
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                },
                "hgnc_date_symbol_changed": "2001-08-01"
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            "entity_type": "gene",
            "entity_name": "NFS1",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "24498631"
            ],
            "evidence": [
                "Expert Review Amber",
                "NHS GMS"
            ],
            "phenotypes": [
                "Infantile mitochondrial complex II/III deficiency"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 539,
                "hash_id": null,
                "name": "Possible mitochondrial disorder - nuclear genes",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.21",
                "version_created": "2020-11-16T16:20:34.348263Z",
                "relevant_disorders": [
                    "R63"
                ],
                "stats": {
                    "number_of_genes": 374,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CDHF5"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3049",
                "gene_name": "desmoglein 2",
                "omim_gene": [
                    "125671"
                ],
                "alias_name": null,
                "gene_symbol": "DSG2",
                "hgnc_symbol": "DSG2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "18:29078006-29128971",
                            "ensembl_id": "ENSG00000046604"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "18:31498043-31549008",
                            "ensembl_id": "ENSG00000046604"
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                    }
                },
                "hgnc_date_symbol_changed": "1991-11-15"
            },
            "entity_type": "gene",
            "entity_name": "DSG2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "23500315",
                "27532257"
            ],
            "evidence": [
                "Expert List",
                "Expert Review Green",
                "South West GLH",
                "London South GLH",
                "North West GLH"
            ],
            "phenotypes": [
                "Arrhythmogenic right ventricular dysplasia 10",
                "Arrhythmogenic right ventricular dysplasia 10 (610193)",
                "Cardiomyopathy, dilated, 1BB (612877)"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 652,
                "hash_id": null,
                "name": "Dilated cardiomyopathy - adult and teen",
                "disease_group": "Cardiovascular disorders",
                "disease_sub_group": "Cardiomyopathy",
                "status": "public",
                "version": "1.7",
                "version_created": "2020-10-15T16:02:16.226263Z",
                "relevant_disorders": [
                    "R132"
                ],
                "stats": {
                    "number_of_genes": 51,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    },
                    {
                        "name": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1122",
                "gene_name": "biotinidase",
                "omim_gene": [
                    "609019"
                ],
                "alias_name": null,
                "gene_symbol": "BTD",
                "hgnc_symbol": "BTD",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:15642848-15687329",
                            "ensembl_id": "ENSG00000169814"
                        }
                    },
                    "GRch38": {
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                            "location": "3:15601341-15645822",
                            "ensembl_id": "ENSG00000169814"
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                    }
                },
                "hgnc_date_symbol_changed": "1994-03-30"
            },
            "entity_type": "gene",
            "entity_name": "BTD",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "PAGE DD-Gene2Phenotype",
                "Expert Review Green"
            ],
            "phenotypes": [
                "BIOTINIDASE DEFICIENCY"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 478,
                "hash_id": null,
                "name": "Fetal anomalies",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.115",
                "version_created": "2020-11-20T16:03:23.416019Z",
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                    "R21",
                    "Fetal anomalies with a likely genetic cause"
                ],
                "stats": {
                    "number_of_genes": 1753,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "KIAA0208"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3087",
                "gene_name": "dishevelled segment polarity protein 3",
                "omim_gene": [
                    "601368"
                ],
                "alias_name": null,
                "gene_symbol": "DVL3",
                "hgnc_symbol": "DVL3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "3:183873176-183891398",
                            "ensembl_id": "ENSG00000161202"
                        }
                    },
                    "GRch38": {
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                            "location": "3:184155388-184173610",
                            "ensembl_id": "ENSG00000161202"
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                    }
                },
                "hgnc_date_symbol_changed": "1997-04-21"
            },
            "entity_type": "gene",
            "entity_name": "DVL3",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "PAGE DD-Gene2Phenotype",
                "Expert Review Green"
            ],
            "phenotypes": [
                "AUTOSOMAL-DOMINANT ROBINOW SYNDROME"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
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            "panel": {
                "id": 478,
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                "version_created": "2020-11-20T16:03:23.416019Z",
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                    "Fetal anomalies with a likely genetic cause"
                ],
                "stats": {
                    "number_of_genes": 1753,
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                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CSPGCP"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:319",
                "gene_name": "aggrecan",
                "omim_gene": [
                    "155760"
                ],
                "alias_name": [
                    "aggrecan proteoglycan"
                ],
                "gene_symbol": "ACAN",
                "hgnc_symbol": "ACAN",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "15:89346674-89418585",
                            "ensembl_id": "ENSG00000157766"
                        }
                    },
                    "GRch38": {
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                            "location": "15:88803443-88875354",
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                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-02-16"
            },
            "entity_type": "gene",
            "entity_name": "ACAN",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "DD-Gene2Phenotype",
                "Expert Review Green"
            ],
            "phenotypes": [
                "SPONDYLOEPIMETAPHYSEAL DYSPLASIA AGGRECAN TYPE 612813",
                "SPONDYLOEPIPHYSEAL DYSPLASIA TYPE KIMBERLEY 608361"
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            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
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                "hash_id": null,
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                "version_created": "2020-11-17T10:07:56.440564Z",
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                "stats": {
                    "number_of_genes": 1914,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    },
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CST6",
                    "PME"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2482",
                "gene_name": "cystatin B",
                "omim_gene": [
                    "601145"
                ],
                "alias_name": [
                    "stefin B"
                ],
                "gene_symbol": "CSTB",
                "hgnc_symbol": "CSTB",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "21:45192393-45196326",
                            "ensembl_id": "ENSG00000160213"
                        }
                    },
                    "GRch38": {
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                            "location": "21:43772511-43776445",
                            "ensembl_id": "ENSG00000160213"
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                    }
                },
                "hgnc_date_symbol_changed": "1996-12-12"
            },
            "entity_type": "gene",
            "entity_name": "CSTB",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
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                "9342192",
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                "DD-Gene2Phenotype",
                "Expert Review Green"
            ],
            "phenotypes": [
                "UNVERRICHT-LUNDBORG DISEASE 254800"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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            "panel": {
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                "hash_id": null,
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                "disease_sub_group": "",
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                "version": "2.12",
                "version_created": "2020-11-17T10:07:56.440564Z",
                "relevant_disorders": [],
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                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    },
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    }
                ]
            },
            "transcript": null
        },
        {
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                    "MGC4322",
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                    "Dhr1"
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                "gene_name": "DEAH-box helicase 37",
                "omim_gene": [
                    "617362"
                ],
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                "hgnc_date_symbol_changed": "2003-06-20"
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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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                "Expert Review Red"
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                    "number_of_regions": 0
                },
                "types": [
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                        "name": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    },
                    {
                        "name": "GMS signed-off",
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                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    },
                    {
                        "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
        },
        {
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                ],
                "biotype": "protein_coding",
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                "gene_name": "FYVE, RhoGEF and PH domain containing 1",
                "omim_gene": [
                    "300546"
                ],
                "alias_name": null,
                "gene_symbol": "FGD1",
                "hgnc_symbol": "FGD1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "X:54471887-54522599",
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                    },
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                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "FGD1",
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            "mode_of_pathogenicity": "",
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            "evidence": [
                "DD-Gene2Phenotype",
                "Expert Review Green"
            ],
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                "AARSKOG-SCOTT SYNDROME 305400"
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            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "tags": [],
            "panel": {
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                "hash_id": null,
                "name": "DDG2P",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "2.12",
                "version_created": "2020-11-17T10:07:56.440564Z",
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                "types": [
                    {
                        "name": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    },
                    {
                        "name": "GMS signed-off",
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                    },
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
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                    "NY-REN-58",
                    "NPHP18"
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                "gene_name": "centrosomal protein 83",
                "omim_gene": [
                    "615847"
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                "alias_name": null,
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                            "location": "12:94700225-94853764",
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                },
                "hgnc_date_symbol_changed": "2014-03-06"
            },
            "entity_type": "gene",
            "entity_name": "CEP83",
            "confidence_level": "3",
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            "publications": [
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                "Expert Review Green"
            ],
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                "INFANTILE NEPHRONOPHTHISIS AND INTELLECTUAL DISABILITY"
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                "disease_sub_group": "",
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                "types": [
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                        "name": "Component Of Super Panel",
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                    {
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                        "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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                ]
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                    "SCA27"
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                "biotype": "protein_coding",
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                            "location": "13:102372134-103054124",
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                "hgnc_date_symbol_changed": "1996-12-18"
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                "disease_sub_group": "Motor and Sensory Disorders of the PNS",
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                    "number_of_strs": 11,
                    "number_of_regions": 2
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
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                        "description": "Rare Disease 100K"
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                ]
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        {
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                "alias": [
                    "FAAH",
                    "FLJ25287"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21197",
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                        "name": "Rare Disease 100K",
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                        "description": "Rare Disease 100K"
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        {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:18561",
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                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:8013800-8064647",
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                },
                "hgnc_date_symbol_changed": "2012-08-01"
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                    {
                        "name": "GMS Rare Disease Virtual",
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                    },
                    {
                        "name": "GMS signed-off",
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                    {
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                        "slug": "gms-rare-disease",
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                    "604943"
                ],
                "alias_name": [
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                    "GRch38": {
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                    }
                },
                "hgnc_date_symbol_changed": "2005-09-13"
            },
            "entity_type": "gene",
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            "penetrance": "Complete",
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        {
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                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "SMVT"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11041",
                "gene_name": "solute carrier family 5 member 6",
                "omim_gene": [
                    "604024"
                ],
                "alias_name": null,
                "gene_symbol": "SLC5A6",
                "hgnc_symbol": "SLC5A6",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:27422455-27435826",
                            "ensembl_id": "ENSG00000138074"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:27199587-27212958",
                            "ensembl_id": "ENSG00000138074"
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                    }
                },
                "hgnc_date_symbol_changed": "1999-01-19"
            },
            "entity_type": "gene",
            "entity_name": "SLC5A6",
            "confidence_level": "2",
            "penetrance": "Complete",
            "mode_of_pathogenicity": null,
            "publications": [
                "27904971",
                "31392107",
                "31754459",
                "23104561",
                "29669219"
            ],
            "evidence": [
                "Expert Review Amber",
                "Literature"
            ],
            "phenotypes": [
                "Feeding difficulties",
                "Failure to thrive",
                "Global developmental delay",
                "Developmental regression",
                "Intellectual disability",
                "Seizures",
                "Microcephaly",
                "Cerebral atrophy",
                "Abnormality of the corpus callosum",
                "Vomiting",
                "Chronic diarrhea",
                "Gastrointestinal hemorrhage",
                "Abnormal immunoglobulin level",
                "Osteopenia",
                "Abnormality of metabolism/homeostasis"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "for-review"
            ],
            "panel": {
                "id": 285,
                "hash_id": "558aa423bb5a16630e15b63c",
                "name": "Intellectual disability",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Neurodevelopmental disorders",
                "status": "public",
                "version": "3.568",
                "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"
                ],
                "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."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CGI-143"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:24263",
                "gene_name": "bolA family member 1",
                "omim_gene": [
                    "613181"
                ],
                "alias_name": null,
                "gene_symbol": "BOLA1",
                "hgnc_symbol": "BOLA1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:149859440-149872351",
                            "ensembl_id": "ENSG00000178096"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "1:149887890-149900798",
                            "ensembl_id": "ENSG00000178096"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-05-09"
            },
            "entity_type": "gene",
            "entity_name": "BOLA1",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "No OMIM phenotype"
            ],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 112,
                "hash_id": "55928cf522c1fc4f7d26e960",
                "name": "Mitochondrial disorders",
                "disease_group": "Metabolic disorders",
                "disease_sub_group": "Mitochondrial",
                "status": "public",
                "version": "2.12",
                "version_created": "2020-11-16T16:20:06.853473Z",
                "relevant_disorders": [
                    "Lactic acidosis",
                    "All recognised syndromes and those with suggestive features"
                ],
                "stats": {
                    "number_of_genes": 469,
                    "number_of_strs": 2,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    },
                    {
                        "name": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CI-13kA"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7713",
                "gene_name": "NADH:ubiquinone oxidoreductase subunit S6",
                "omim_gene": [
                    "603848"
                ],
                "alias_name": [
                    "complex I 13kDa subunit A",
                    "NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial"
                ],
                "gene_symbol": "NDUFS6",
                "hgnc_symbol": "NDUFS6",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:1801514-1816719",
                            "ensembl_id": "ENSG00000145494"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "5:1801400-1816605",
                            "ensembl_id": "ENSG00000145494"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-11-08"
            },
            "entity_type": "gene",
            "entity_name": "NDUFS6",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Victorian Clinical Genetics Services",
                "Illumina TruGenome Clinical Sequencing Services",
                "Emory Genetics Laboratory",
                "Radboud University Medical Center, Nijmegen",
                "Expert list",
                "Expert"
            ],
            "phenotypes": [
                "Isolated complex I deficiency",
                "Complex I, mitochondrial respiratory chain, deficiency of, 252010",
                "Mitochondrial Diseases",
                "Mitochondrial Respiratory Chain Complex I Deficiency"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 112,
                "hash_id": "55928cf522c1fc4f7d26e960",
                "name": "Mitochondrial disorders",
                "disease_group": "Metabolic disorders",
                "disease_sub_group": "Mitochondrial",
                "status": "public",
                "version": "2.12",
                "version_created": "2020-11-16T16:20:06.853473Z",
                "relevant_disorders": [
                    "Lactic acidosis",
                    "All recognised syndromes and those with suggestive features"
                ],
                "stats": {
                    "number_of_genes": 469,
                    "number_of_strs": 2,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    },
                    {
                        "name": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "APP3",
                    "NPHPL1",
                    "ICP55"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:28052",
                "gene_name": "X-prolyl aminopeptidase 3",
                "omim_gene": [
                    "613553"
                ],
                "alias_name": [
                    "Intermediate Cleaving Peptidase 55"
                ],
                "gene_symbol": "XPNPEP3",
                "hgnc_symbol": "XPNPEP3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "22:41253081-41363838",
                            "ensembl_id": "ENSG00000196236"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "22:40857077-40932815",
                            "ensembl_id": "ENSG00000196236"
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                    }
                },
                "hgnc_date_symbol_changed": "2006-08-02"
            },
            "entity_type": "gene",
            "entity_name": "XPNPEP3",
            "confidence_level": "2",
            "penetrance": "Complete",
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            "publications": [
                "PMID: 20179356"
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            "evidence": [
                "Expert Review Amber",
                "Expert list"
            ],
            "phenotypes": [
                "nephronophthisis-like nephropathy"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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            "panel": {
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                "version": "2.12",
                "version_created": "2020-11-16T16:20:06.853473Z",
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                    "Lactic acidosis",
                    "All recognised syndromes and those with suggestive features"
                ],
                "stats": {
                    "number_of_genes": 469,
                    "number_of_strs": 2,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    },
                    {
                        "name": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ12584",
                    "KIAA1868",
                    "ARM",
                    "KU-MEL-1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:20730",
                "gene_name": "armadillo repeat containing 9",
                "omim_gene": [
                    "617612"
                ],
                "alias_name": null,
                "gene_symbol": "ARMC9",
                "hgnc_symbol": "ARMC9",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "2:232063260-232239548",
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                    },
                    "GRch38": {
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                },
                "hgnc_date_symbol_changed": "2005-10-04"
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            "entity_type": "gene",
            "entity_name": "ARMC9",
            "confidence_level": "3",
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            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Joubert syndrome 30, 617622"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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            "panel": {
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                "hash_id": null,
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                "disease_sub_group": "",
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                "version": "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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                    "number_of_genes": 238,
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                    "number_of_regions": 4
                },
                "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
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ30570",
                    "rd6",
                    "NNO2",
                    "C1QTNF5"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:18121",
                "gene_name": "membrane frizzled-related protein",
                "omim_gene": [
                    "606227"
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                "alias_name": [
                    "membrane-type frizzled-related protein",
                    "C1q and TNF related 5"
                ],
                "gene_symbol": "MFRP",
                "hgnc_symbol": "MFRP",
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                "ensembl_genes": {
                    "GRch37": {
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                },
                "hgnc_date_symbol_changed": "2002-02-25"
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            "entity_type": "gene",
            "entity_name": "MFRP",
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            "penetrance": "Complete",
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                "NHS GMS",
                "Expert Review Green"
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            "phenotypes": [
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            "panel": {
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                "version_created": "2020-10-20T15:08:00.084141Z",
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                    "Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy",
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                    "Familial exudative vitreoretinopathy",
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                        "description": "Rare Disease 100K"
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                    {
                        "name": "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."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "IKK-gamma",
                    "NEMO",
                    "Fip3p",
                    "FIP-3",
                    "FIP3",
                    "ZC2HC9"
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                "biotype": null,
                "hgnc_id": "HGNC:5961",
                "gene_name": "inhibitor of nuclear factor kappa B kinase subunit gamma",
                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "IKBKG",
                "hgnc_symbol": "IKBKG",
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                "ensembl_genes": {
                    "GRch37": {
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                "hgnc_date_symbol_changed": "1998-09-30"
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            "entity_type": "gene",
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                "Expert Review Green",
                "NHS GMS"
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                "Incontinentia pigmenti, 308300"
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                    "Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy",
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                    "Rod Dysfunction Syndrome",
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                    "Familial exudative retinopathy",
                    "R32",
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                    "R34",
                    "R35"
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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"
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
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                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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                ]
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        {
            "gene_data": {
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                    "OCA1"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12442",
                "gene_name": "tyrosinase",
                "omim_gene": [
                    "606933"
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                "alias_name": [
                    "oculocutaneous albinism IA"
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                "hgnc_symbol": "TYR",
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                "ensembl_genes": {
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            "entity_type": "gene",
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            "publications": [],
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                "NHS GMS",
                "Expert Review Red"
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            "panel": {
                "id": 307,
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                "disease_group": "Ophthalmological disorders",
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                    "Posterior segment abnormalities",
                    "Cone Dysfunction Syndrome",
                    "Developmental macular and foveal dystrophy",
                    "Inherited macular dystrophy",
                    "Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy",
                    "Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy",
                    "Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy",
                    "Rod Dysfunction Syndrome",
                    "Rod-cone dystrophy",
                    "Familial exudative vitreoretinopathy",
                    "Familial exudative retinopathy",
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                    "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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                    {
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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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                    "MFSD7B",
                    "PCA"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:24682",
                "gene_name": "feline leukemia virus subgroup C cellular receptor 1",
                "omim_gene": [
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                "hgnc_symbol": "FLVCR1",
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                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:213031597-213072705",
                            "ensembl_id": "ENSG00000162769"
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                            "location": "1:212858255-212899363",
                            "ensembl_id": "ENSG00000162769"
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                    }
                },
                "hgnc_date_symbol_changed": "2007-05-01"
            },
            "entity_type": "gene",
            "entity_name": "FLVCR1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Eye Disorders",
                "Posterior Column Ataxia with Retinitis Pigmentosa",
                "Ataxia, posterior column, with retinitis pigmentosa, 609033",
                "Retinitis pigmentosa"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
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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"
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                "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"
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                    {
                        "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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                ]
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            "transcript": null
        },
        {
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                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4218",
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                "omim_gene": [
                    "606522"
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                "alias_name": null,
                "gene_symbol": "GDF3",
                "hgnc_symbol": "GDF3",
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                "ensembl_genes": {
                    "GRch37": {
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                            "location": "12:7842378-7848372",
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                        "90": {
                            "location": "12:7689782-7695776",
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                },
                "hgnc_date_symbol_changed": "1999-04-23"
            },
            "entity_type": "gene",
            "entity_name": "GDF3",
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            "penetrance": null,
            "mode_of_pathogenicity": "other - please provide details in the comments",
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                "19864492"
            ],
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                "Expert Review Amber",
                "NHS GMS"
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                "Klippel-Feil Syndrome3, 613702",
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                },
                "types": [
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
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                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ14566",
                    "AGO61"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25902",
                "gene_name": "protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)",
                "omim_gene": [
                    "614828"
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                "gene_symbol": "POMGNT2",
                "hgnc_symbol": "POMGNT2",
                "hgnc_release": "2017-11-03",
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                            "location": "3:43120724-43147568",
                            "ensembl_id": "ENSG00000144647"
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                            "location": "3:43079232-43106076",
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                "hgnc_date_symbol_changed": "2013-08-22"
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            "entity_type": "gene",
            "entity_name": "POMGNT2",
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            "penetrance": null,
            "mode_of_pathogenicity": "",
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                "22958903"
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            "evidence": [
                "NHS GMS",
                "Expert Review Amber",
                "London North GLH"
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            "phenotypes": [
                "Muscular Dystrophy-Dystroglycanopathy, Type A, 8, MDDGA8, 614830"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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                "disease_sub_group": "",
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                    "number_of_regions": 2
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                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
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                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
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        },
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                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21645",
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                "gene_symbol": "CHCHD2",
                "hgnc_symbol": "CHCHD2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "7:56169262-56174269",
                            "ensembl_id": "ENSG00000106153"
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                "hgnc_date_symbol_changed": "2004-01-21"
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            "entity_type": "gene",
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            "mode_of_pathogenicity": "",
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                "Funayama, M., Ohe, K., Amo, T., Furuya, N., Yamaguchi, J., Saiki, S., Li, Y., Ogaki, K., Ando, M., Yoshino, H., Tomiyama, H., Nishioka, K., and 12 others. CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study. Lancet Neurol. 14: 274-282, 2015",
                "26067110",
                "26067114",
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            "evidence": [
                "London North GLH",
                "NHS GMS",
                "South West GLH",
                "Expert Review Amber"
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                "Parkinson disease 22, autosomal dominant"
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                "version_created": "2020-11-20T16:04:22.346339Z",
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                    "number_of_strs": 11,
                    "number_of_regions": 1
                },
                "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)"
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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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                    {
                        "name": "GMS Rare Disease Virtual",
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        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4422",
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                "omim_gene": [
                    "607664"
                ],
                "alias_name": [
                    "Sanfilippo disease IIID",
                    "N-acetylglucosamine-6-sulfatase"
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                "gene_symbol": "GNS",
                "hgnc_symbol": "GNS",
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                "ensembl_genes": {
                    "GRch37": {
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                            "location": "12:65107225-65153227",
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                            "location": "12:64713445-64759447",
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                "hgnc_date_symbol_changed": "1988-06-09"
            },
            "entity_type": "gene",
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            "penetrance": null,
            "mode_of_pathogenicity": "",
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                "Expert Review Red",
                "MetBioNet",
                "MetBioNet"
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                "Mucopolysaccharidosis, Type III",
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                "Mucopolysaccharidosis Type IIID",
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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": "ALMS1",
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            "entity_type": "gene",
            "entity_name": "ALMS1",
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            "penetrance": "Complete",
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                "Expert Review Green",
                "Expert Review"
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                        "name": "GMS Rare Disease",
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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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                        "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_date_symbol_changed": "2008-06-13"
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            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "London North GLH"
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            "mode_of_inheritance": "",
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