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                    "connexin 26"
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                "Hystrix-like ichthyosis with deafness, 602540",
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                    "JTK10"
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                "gene_name": "Janus kinase 2",
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                "white matter cerebral lesions, increased level of homocysteine"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
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                        "name": "Research",
                        "slug": "research",
                        "description": "This is a gene panel used for research."
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                ]
            },
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        },
        {
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                    "EM9",
                    "MGC102762",
                    "MGC126218",
                    "MGC126219",
                    "TFIIH"
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                "hgnc_id": "HGNC:3434",
                "gene_name": "ERCC excision repair 2, TFIIH core complex helicase subunit",
                "omim_gene": [
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                ],
                "alias_name": [
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                "hgnc_symbol": "ERCC2",
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            ],
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                    "number_of_strs": 0,
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                        "description": "This is a gene panel used for research."
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                ]
            },
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        },
        {
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                "hgnc_symbol": "LAMB1",
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                "ensembl_genes": {
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                    },
                    "GRch38": {
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                            "location": "7:107923799-108003255",
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                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
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                "Expert Review Red",
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                    "Vein of Galen malformation",
                    "Cerebral arteriovenous malformations",
                    "Moyamoya disease",
                    "R336"
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                "types": [
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                        "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."
                    }
                ]
            },
            "transcript": null
        },
        {
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                    "ARS",
                    "ANUP",
                    "MDM",
                    "ArsB",
                    "LY6LS"
                ],
                "biotype": "protein_coding",
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                "omim_gene": [
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                    "ARS component B"
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                "hgnc_symbol": "SLURP1",
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                },
                "hgnc_date_symbol_changed": "2004-11-16"
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            "entity_type": "gene",
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                "24604124",
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                "15026760",
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                "23290002",
                "19120323"
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                "Expert Review Green"
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                "Meleda disease, 248300"
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            "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
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            "panel": {
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                "types": [
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                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    },
                    {
                        "name": "GMS signed-off",
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                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
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                ]
            },
            "transcript": null
        },
        {
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                    "GEFSP2",
                    "HBSCI",
                    "NAC1",
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                "gene_name": "sodium voltage-gated channel alpha subunit 1",
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        {
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                            "location": "3:122044091-122060819",
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                "types": [
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                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
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                    },
                    {
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                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
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        },
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                    "PP-1B",
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                "types": [
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                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
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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."
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
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                ]
            },
            "transcript": null
        },
        {
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                ],
                "biotype": "protein_coding",
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                "omim_gene": [
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                "alias_name": null,
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        {
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                "alias_name": [
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                "disease_group": "Tumour syndromes",
                "disease_sub_group": "Breast and endocrine",
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                "version": "1.9",
                "version_created": "2019-03-05T12:57:31.229789Z",
                "relevant_disorders": [
                    "Multiple endocrine tumours",
                    "Multiple endocrine neoplasia type 1",
                    "Endocrine neoplasia"
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                "stats": {
                    "number_of_genes": 16,
                    "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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                ]
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            "transcript": null
        },
        {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11199",
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                "alias_name": null,
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                "hgnc_symbol": "SOX3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "X:139585152-139587225",
                            "ensembl_id": "ENSG00000134595"
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                            "location": "X:140502985-140505116",
                            "ensembl_id": "ENSG00000134595"
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                },
                "hgnc_date_symbol_changed": "1993-11-30"
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            "entity_type": "gene",
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            "mode_of_pathogenicity": null,
            "publications": [],
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            ],
            "phenotypes": [
                "Panhypopituitarism, X-linked"
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            "panel": {
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                "disease_group": "Endocrine disorders",
                "disease_sub_group": "Hypothalamic and pituitary disorders",
                "status": "public",
                "version": "1.28",
                "version_created": "2020-05-05T15:27:28.110368Z",
                "relevant_disorders": [
                    "Kallmann syndrome",
                    "Kallmann syndrom",
                    "Idiopathic hypogonadotropic hypogonadism"
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                "stats": {
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                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
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                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
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                ]
            },
            "transcript": null
        },
        {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:24564",
                "gene_name": "C2 calcium dependent domain containing 3",
                "omim_gene": [
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                "hgnc_symbol": "C2CD3",
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                "ensembl_genes": {
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                            "location": "11:73723763-73882255",
                            "ensembl_id": "ENSG00000168014"
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                        "90": {
                            "location": "11:74012714-74171210",
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                "hgnc_date_symbol_changed": "2007-10-17"
            },
            "entity_type": "gene",
            "entity_name": "C2CD3",
            "confidence_level": "0",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Removed",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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            "panel": {
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                "hash_id": "58c8066b8f6203413360f1cf",
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                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.11",
                "version_created": "2020-09-30T13:44:04.652891Z",
                "relevant_disorders": [
                    "Ductal plate malformation (DPM)",
                    "Polycystic liver disease"
                ],
                "stats": {
                    "number_of_genes": 150,
                    "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": [
                    "minK",
                    "ISK",
                    "JLNS2",
                    "LQT5"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6240",
                "gene_name": "potassium voltage-gated channel subfamily E regulatory subunit 1",
                "omim_gene": [
                    "176261"
                ],
                "alias_name": null,
                "gene_symbol": "KCNE1",
                "hgnc_symbol": "KCNE1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "21:35818988-35884573",
                            "ensembl_id": "ENSG00000180509"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "21:34446688-34512275",
                            "ensembl_id": "ENSG00000180509"
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                    }
                },
                "hgnc_date_symbol_changed": "1991-08-13"
            },
            "entity_type": "gene",
            "entity_name": "KCNE1",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "16301704",
                "26168993"
            ],
            "evidence": [
                "North West GLH",
                "Emory Genetics Laboratory",
                "Long QT syndrome (Version 1.5)"
            ],
            "phenotypes": [
                "Long QT syndrome-5 (613695)",
                "Jervell and Lange-Nielsen syndrome 2 (612347)"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 224,
                "hash_id": "58c7f6858f620328d77ce711",
                "name": "Short QT syndrome",
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                "disease_sub_group": "",
                "status": "public",
                "version": "2.6",
                "version_created": "2020-08-20T14:00:10.239920Z",
                "relevant_disorders": [
                    "R130"
                ],
                "stats": {
                    "number_of_genes": 40,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
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                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    },
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    },
                    {
                        "name": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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                ]
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            "transcript": null
        },
        {
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                "alias": [
                    "CMD1S"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7577",
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                "omim_gene": [
                    "160760"
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                "alias_name": null,
                "gene_symbol": "MYH7",
                "hgnc_symbol": "MYH7",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "14:23881947-23904927",
                            "ensembl_id": "ENSG00000092054"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "14:23412738-23435718",
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                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "MYH7",
            "confidence_level": "3",
            "penetrance": "Complete",
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            "publications": [
                "27532257",
                "20186049"
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            "evidence": [
                "South West GLH",
                "London South GLH",
                "North West GLH",
                "Expert Review Green",
                "Expert list",
                "Emory Genetics Laboratory",
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                "Illumina TruGenome Clinical Sequencing Services",
                "UKGTN"
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            "phenotypes": [
                "Left ventricular noncompaction 5 (613426)",
                "Myopathy, myosin storage, autosomal dominant (608358)",
                "Laing distal myopathy (160500)",
                "Myopathy, myosin storage, autosomal recessive (255160)",
                "Cardiomyopathy, hypertrophic, 1 (192600)",
                "Cardiomyopathy, dilated, 1S (613426)",
                "Cardiomyopathy, dilated, 1S",
                "Scapuloperoneal syndrome, myopathic type (181430)"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
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            "panel": {
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                "hash_id": "55a4d99022c1fc6710839b84",
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                "disease_group": "Cardiovascular disorders",
                "disease_sub_group": "Cardiomyopathy",
                "status": "public",
                "version": "1.65",
                "version_created": "2019-12-11T11:34:44.100337Z",
                "relevant_disorders": [
                    "Dilated Cardiomyopathy",
                    "Dilated Cardiomyopathy (DCM)",
                    "Dilated cardiomyopathy - teen and adult"
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                "stats": {
                    "number_of_genes": 84,
                    "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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                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
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                    "RING11",
                    "D6S217E"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:44",
                "gene_name": "transporter 2, ATP binding cassette subfamily B member",
                "omim_gene": [
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                "alias_name": null,
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                "hgnc_symbol": "TAP2",
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                "ensembl_genes": {
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                },
                "hgnc_date_symbol_changed": "1992-06-25"
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            "entity_type": "gene",
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                "Expert Review Green",
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            "phenotypes": [
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                    "Familial haemophagocytic lymphohistiocytic disorders",
                    "Familial hemophagocytic lymphohistiocytic disorders",
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                        "name": "GMS Rare Disease Virtual",
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                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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        {
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                "types": [
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                        "slug": "research",
                        "description": "This is a gene panel used for research."
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                ]
            },
            "transcript": null
        },
        {
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                "hgnc_symbol": "EXT1",
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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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                },
                "types": [
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                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    },
                    {
                        "name": "GMS signed-off",
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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 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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            "entity_type": "gene",
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                },
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                        "name": "Rare Disease 100K",
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                        "description": "Rare Disease 100K"
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        {
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                },
                "hgnc_date_symbol_changed": "1999-07-13"
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            "entity_type": "gene",
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            "mode_of_pathogenicity": "",
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                "30389403",
                "32600459",
                "32219868",
                "32548275"
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                "Expert Review Amber",
                "London North GLH"
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                "for-review"
            ],
            "panel": {
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                "version_created": "2020-08-25T10:04:39.046067Z",
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                    "R41",
                    "R42.2"
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                        "slug": "rare-disease-100k",
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                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
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                    },
                    {
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                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
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                ]
            },
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        },
        {
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                "alias": [
                    "KIAA1851"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:22932",
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                "omim_gene": [
                    "615320"
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                "alias_name": [
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                "gene_symbol": "GMPPB",
                "hgnc_symbol": "GMPPB",
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                            "location": "3:49754277-49761384",
                            "ensembl_id": "ENSG00000173540"
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                            "location": "3:49716844-49723951",
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            "entity_type": "gene",
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            "penetrance": "Complete",
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                "version_created": "2020-03-04T13:57:20.840273Z",
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                    },
                    {
                        "name": "GMS Rare Disease",
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                    {
                        "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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                "ensembl_genes": {
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                },
                "hgnc_date_symbol_changed": "1998-01-08"
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            "entity_type": "gene",
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            "penetrance": "Complete",
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            "phenotypes": [
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                "version_created": "2020-10-20T15:40:55.907171Z",
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                "types": [
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                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
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                    {
                        "name": "GMS signed-off",
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                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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                ]
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            "transcript": null
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        {
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                "alias_name": [
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                "hgnc_symbol": "NDUFS5",
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                },
                "hgnc_date_symbol_changed": "1995-11-08"
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            "entity_type": "gene",
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                "Expert Review Amber",
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                "version_created": "2020-02-17T15:49:49.665667Z",
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                "types": [
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                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
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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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                ]
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        {
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        {
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                "types": [
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                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
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                    {
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                            "location": "14:61110133-61124977",
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                    "number_of_regions": 3
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                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
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                    {
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                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
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                    {
                        "name": "GMS Rare Disease Virtual",
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                        "name": "GMS Rare Disease Virtual",
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                "hgnc_date_symbol_changed": "2005-02-16"
            },
            "entity_type": "gene",
            "entity_name": "MT-ND6",
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            "evidence": [
                "Expert Review Green"
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            "phenotypes": [
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                "STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA",
                "LEBER OPTIC ATROPHY AND DYSTONIA",
                "LEBER OPTIC ATROPHY",
                "LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY"
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                    "Likely inborn error of metabolism - targeted testing not possible",
                    "Likely inborn error of metabolism",
                    "R98"
                ],
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                        "description": "This panel is a component of a Super Panel"
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                    {
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                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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            },
            "transcript": null
        },
        {
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                ],
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                "hgnc_id": "HGNC:7467",
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                "omim_gene": [
                    "157147"
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                "alias_name": null,
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                "hgnc_symbol": "MTTP",
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                            "location": "4:100484918-100545156",
                            "ensembl_id": "ENSG00000138823"
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                    "GRch38": {
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                            "location": "4:99563761-99623999",
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                "hgnc_date_symbol_changed": "2005-11-04"
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            "entity_type": "gene",
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            "confidence_level": "3",
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            "mode_of_pathogenicity": "",
            "publications": [
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            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
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            "phenotypes": [
                "Abetalipoproteinemia, 200100",
                "(ACANTHOCYTOSIS, BASSEN-KORNZWEIG SYNDROME,  MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFICIENCY, MTP DEFICIENCY)",
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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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                    {
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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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                "alias": [
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                    "ATPO"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:850",
                "gene_name": "ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit",
                "omim_gene": [
                    "600828"
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                "alias_name": [
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                "hgnc_symbol": "ATP5O",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                        "82": {
                            "location": "21:35275757-35288284",
                            "ensembl_id": "ENSG00000241837"
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                            "location": "21:33903453-33915980",
                            "ensembl_id": "ENSG00000241837"
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                    }
                },
                "hgnc_date_symbol_changed": "1995-04-12"
            },
            "entity_type": "gene",
            "entity_name": "ATP5O",
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            "mode_of_pathogenicity": "",
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                "Expert Review Amber",
                "NHS GMS"
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                "No OMIM phenotype"
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            "mode_of_inheritance": "Unknown",
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                "new-gene-name"
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            "panel": {
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                "disease_group": "",
                "disease_sub_group": "",
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                "version": "1.21",
                "version_created": "2020-11-16T16:20:34.348263Z",
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                "stats": {
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                    "number_of_regions": 0
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                "types": [
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                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    },
                    {
                        "name": "GMS signed-off",
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                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ20477"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26031",
                "gene_name": "phosphatidylinositol glycan anchor biosynthesis class V",
                "omim_gene": [
                    "610274"
                ],
                "alias_name": [
                    "GPI mannosyltransferase 2",
                    "dol-P-Man dependent GPI mannosyltransferase"
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                "gene_symbol": "PIGV",
                "hgnc_symbol": "PIGV",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "1:27113963-27124889",
                            "ensembl_id": "ENSG00000060642"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "1:26787472-26798398",
                            "ensembl_id": "ENSG00000060642"
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                "hgnc_date_symbol_changed": "2005-01-10"
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            "entity_type": "gene",
            "entity_name": "PIGV",
            "confidence_level": "3",
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                "Expert Review Green"
            ],
            "phenotypes": [
                "HYPERPHOSPHATASIA WITH MENTAL RETARDATION"
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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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                "version_created": "2020-11-20T16:03:23.416019Z",
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                    "Fetal anomalies with a likely genetic cause"
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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."
                    },
                    {
                        "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-63",
                    "NRBF1",
                    "FASN2B",
                    "ETR1"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:19691",
                "gene_name": "mitochondrial trans-2-enoyl-CoA reductase",
                "omim_gene": [
                    "608205"
                ],
                "alias_name": [
                    "nuclear receptor binding factor 1",
                    "mitochondrial 2-enoyl thioester reductase"
                ],
                "gene_symbol": "MECR",
                "hgnc_symbol": "MECR",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:29519385-29557454",
                            "ensembl_id": "ENSG00000116353"
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                    },
                    "GRch38": {
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                            "location": "1:29192873-29230942",
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                    }
                },
                "hgnc_date_symbol_changed": "2005-05-24"
            },
            "entity_type": "gene",
            "entity_name": "MECR",
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                "Expert Review Amber",
                "PAGE DD-Gene2Phenotype"
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                "Childhood-Onset Dystonia and Optic Atrophy"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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                },
                "types": [
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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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                "omim_gene": [
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                "alias_name": [
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                            "ensembl_id": "ENSG00000149311"
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                    "GRch38": {
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                },
                "hgnc_date_symbol_changed": "1995-07-07"
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            "entity_type": "gene",
            "entity_name": "ATM",
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                },
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                ]
            },
            "transcript": null
        },
        {
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                "alias_name": [
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                "hgnc_symbol": "SRY",
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            "panel": {
                "id": 478,
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                    {
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                ]
            },
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        {
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                "alias": [],
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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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                "Expert Review Green"
            ],
            "phenotypes": [
                "Joubert syndrome 30"
            ],
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                "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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                "alias": [
                    "EKN1",
                    "FLJ37882",
                    "CILD25"
                ],
                "biotype": "protein_coding",
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                "gene_name": "dynein axonemal assembly factor 4",
                "omim_gene": [
                    "608706"
                ],
                "alias_name": [
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                        "82": {
                            "location": "15:55702723-55800432",
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                            "location": "15:55410525-55508234",
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                "hgnc_date_symbol_changed": "2017-03-20"
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                "Expert Review Green"
            ],
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                "PRIMARY CILIARY DYSPLASIA"
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                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super 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)"
                    }
                ]
            },
            "transcript": null
        },
        {
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                    "ORCAM",
                    "CDO",
                    "CDON1"
                ],
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                "gene_name": "cell adhesion associated, oncogene regulated",
                "omim_gene": [
                    "608707"
                ],
                "alias_name": [
                    "cell adhesion molecule-related/down-regulated by oncogenes"
                ],
                "gene_symbol": "CDON",
                "hgnc_symbol": "CDON",
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                            "location": "11:125825691-125933230",
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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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                "DD-Gene2Phenotype",
                "Expert Review Green"
            ],
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                    "number_of_strs": 0,
                    "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"
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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",
                "hgnc_id": "HGNC:17043",
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                    }
                },
                "hgnc_date_symbol_changed": "2004-01-23"
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            "entity_type": "gene",
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            "penetrance": "Complete",
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                    "number_of_regions": 2
                },
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                        "name": "Rare Disease 100K",
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                        "description": "Rare Disease 100K"
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                ]
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        },
        {
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                    "NBC3",
                    "SBC2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11033",
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                "ensembl_genes": {
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                "hgnc_date_symbol_changed": "1999-04-16"
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            "entity_type": "gene",
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                "types": [
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                    {
                        "name": "GMS Rare Disease Virtual",
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                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
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                "alias_name": [
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                    {
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                    {
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            "entity_type": "gene",
            "entity_name": "KLHL15",
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            "penetrance": "Complete",
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            "entity_type": "gene",
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                "hgnc_date_symbol_changed": "1997-02-19"
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            "entity_type": "gene",
            "entity_name": "PSMD10",
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                            "location": "X:71401203-71522776",
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            "entity_type": "gene",
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                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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                    "RAD50-2"
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                            "location": "5:131891711-131980313",
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                "hgnc_date_symbol_changed": "1999-07-23"
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        {
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                "omim_gene": [
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                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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                ]
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        {
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                "name": "Additional findings health related - CNV analysis adult specific",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "0.19",
                "version_created": "2020-04-27T12:40:12.569535Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 6,
                    "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": "Additional Findings",
                        "slug": "additional-findings",
                        "description": "This is a gene panel that maybe used for additional findings."
                    }
                ]
            },
            "transcript": [
                "ENST00000233146.6",
                "NM_000251.2"
            ]
        },
        {
            "gene_data": {
                "alias": [
                    "DMK",
                    "DM1PK",
                    "MDPK",
                    "MT-PK"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2933",
                "gene_name": "DM1 protein kinase",
                "omim_gene": [
                    "605377"
                ],
                "alias_name": [
                    "dystrophia myotonica 1",
                    "DM protein kinase",
                    "myotonin protein kinase A",
                    "myotonic dystrophy associated protein kinase",
                    "thymopoietin homolog"
                ],
                "gene_symbol": "DMPK",
                "hgnc_symbol": "DMPK",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:46272975-46285810",
                            "ensembl_id": "ENSG00000104936"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:45769717-45782552",
                            "ensembl_id": "ENSG00000104936"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-10-10"
            },
            "entity_type": "str",
            "entity_name": "DMPK_CTG",
            "confidence_level": "1",
            "penetrance": null,
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "Expert list"
            ],
            "phenotypes": [
                "Myotonic dystrophy 1 160900"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "repeated_sequence": "CTG",
            "chromosome": "19",
            "grch37_coordinates": [
                46273463,
                46273522
            ],
            "grch38_coordinates": [
                45770205,
                45770264
            ],
            "normal_repeats": 38,
            "pathogenic_repeats": 50,
            "tags": [
                "STR"
            ],
            "panel": {
                "id": 541,
                "hash_id": null,
                "name": "Paroxysmal central nervous system disorders",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.6",
                "version_created": "2020-11-24T17:09:52.894143Z",
                "relevant_disorders": [
                    "Paroxysmal neurological disorders",
                    "pain disorders and sleep disorders",
                    "R66"
                ],
                "stats": {
                    "number_of_genes": 84,
                    "number_of_strs": 5,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    },
                    {
                        "name": "GMS 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."
                    }
                ]
            }
        }
    ]
}