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                "omim_gene": [
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                    "epidermal ichthyosis bullosa of Siemens"
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                "Other"
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                "Ichthyosis bullosa of Siemens, 146800",
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                        "name": "Rare Disease 100K",
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                "Expert Review Green",
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                "Maple syrup urine disease, type Ia\t248600"
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                "name": "Hyperammonaemia",
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                "hgnc_id": "HGNC:4387",
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                "omim_gene": [
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                "27607449"
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                "Auriculocondylar syndrome 1\t602483"
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                "gene_name": "Fanconi anemia complementation group M",
                "omim_gene": [
                    "609644"
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            "publications": [
                "16116422 Meetei et al., 2005 paper that originally classified FANCM as a Fanconi anemia gene",
                "19423727 Singh et al., 2009 reclassified the Meetei et al, patients as having FANCA",
                "25078778 Lim et al., 2014 did NOT find evidence to support FANCM as a gene associated with Fanconi anemia."
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            "entity_name": "MLH1",
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            "penetrance": "Complete",
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                "Expert list"
            ],
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                        "name": "Cancer Germline 100K",
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                        "description": "Cancer Germline 100K"
                    },
                    {
                        "name": "GMS Cancer Germline Virtual",
                        "slug": "gms-cancer-germline-virtual",
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                    {
                        "name": "GMS signed-off",
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        {
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            "entity_type": "gene",
            "entity_name": "NRAS",
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            "mode_of_pathogenicity": "Other - please provide details in the comments",
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                        "name": "Rare Disease 100K",
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                        "name": "Rare Disease 100K",
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                "hgnc_date_symbol_changed": "1996-11-13"
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            "entity_type": "gene",
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                "hgnc_date_symbol_changed": "2003-05-14"
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            "entity_type": "gene",
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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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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            "entity_type": "gene",
            "entity_name": "PNKD",
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            "penetrance": "Incomplete",
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                        "name": "Rare Disease 100K",
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                "hgnc_date_symbol_changed": "2000-06-09"
            },
            "entity_type": "gene",
            "entity_name": "PDE11A",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
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                "16767104"
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            "evidence": [
                "Expert Review Green",
                "NHS GMS"
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                "Pigmented nodular adrenocortical disease, primary, 2, OMIM:610475"
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            "panel": {
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                "disease_sub_group": "",
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                "version": "1.10",
                "version_created": "2023-10-26T01:11:05.367241Z",
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                    "number_of_regions": 0
                },
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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",
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        {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1037",
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                "omim_gene": [
                    "138470"
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                "gene_symbol": "CFB",
                "hgnc_symbol": "CFB",
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                "ensembl_genes": {
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                        "82": {
                            "location": "6:31895475-31919861",
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                "hgnc_date_symbol_changed": "2006-02-10"
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            "penetrance": "Complete",
            "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
            "publications": [
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            "evidence": [
                "Expert Review Green",
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                "IC-MPGN",
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                    {
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                        "slug": "gms-rare-disease-virtual",
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                    "PXYLT1"
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                "24581741"
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                    {
                        "name": "Component Of Super Panel",
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                    {
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                        "description": "This is a gene panel used for research."
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        },
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                "SFARI"
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                        "description": "This is a gene panel used for research."
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        },
        {
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                "biotype": "protein_coding",
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                "alias_name": null,
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                "hgnc_symbol": "HTT",
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                "hgnc_date_symbol_changed": "2007-12-04"
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            "entity_type": "gene",
            "entity_name": "HTT",
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            "penetrance": "Complete",
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            "publications": [],
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                "Expert Review Red",
                "Literature"
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                "currently-ngs-unreportable"
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                        "description": "Rare Disease 100K"
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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": [
                    "CAR",
                    "SPG5C"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11237",
                "gene_name": "SPG7, paraplegin matrix AAA peptidase subunit",
                "omim_gene": [
                    "602783"
                ],
                "alias_name": [
                    "paraplegin"
                ],
                "gene_symbol": "SPG7",
                "hgnc_symbol": "SPG7",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "16:89557325-89624176",
                            "ensembl_id": "ENSG00000197912"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "16:89490917-89557768",
                            "ensembl_id": "ENSG00000197912"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-06-25"
            },
            "entity_type": "gene",
            "entity_name": "SPG7",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "9635427",
                "16534102",
                "17646629",
                "18200586",
                "20186691",
                "22571692"
            ],
            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services",
                "Expert list"
            ],
            "phenotypes": [
                "Spastic paraplegia 7, autosomal recessive, OMIM:607259",
                "hereditary spastic paraplegia 7, MONDO:0011803"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 165,
                "hash_id": "55ad019f22c1fc7042059038",
                "name": "Hereditary spastic paraplegia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.311",
                "version_created": "2024-04-16T23:15:54.219280Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 115,
                    "number_of_strs": 10,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "XH2",
                    "XNP"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:886",
                "gene_name": "ATRX, chromatin remodeler",
                "omim_gene": [
                    "300032",
                    "300504"
                ],
                "alias_name": [
                    "RAD54 homolog (S. cerevisiae)"
                ],
                "gene_symbol": "ATRX",
                "hgnc_symbol": "ATRX",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:76760356-77041702",
                            "ensembl_id": "ENSG00000085224"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:77504878-77786269",
                            "ensembl_id": "ENSG00000085224"
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                    }
                },
                "hgnc_date_symbol_changed": "1992-11-27"
            },
            "entity_type": "gene",
            "entity_name": "ATRX",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Other"
            ],
            "phenotypes": [
                "Mental retardation-hypotonic facies syndrome, X-linked, 309580 (Microcephaly)",
                "Alpha-thalassemia/mental retardation syndrome, 301040 (Microcephaly)"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
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            "panel": {
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                "hash_id": "568f860222c1fc1c79ca1769",
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                "disease_sub_group": "DNA repair disorders",
                "status": "public",
                "version": "5.7",
                "version_created": "2024-05-02T13:20:12.398046Z",
                "relevant_disorders": [
                    "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
                    "Severe microcephaly",
                    "R88"
                ],
                "stats": {
                    "number_of_genes": 264,
                    "number_of_strs": 0,
                    "number_of_regions": 7
                },
                "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": [
                    "a1",
                    "Vph1",
                    "Stv1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:865",
                "gene_name": "ATPase H+ transporting V0 subunit a1",
                "omim_gene": [
                    "192130"
                ],
                "alias_name": null,
                "gene_symbol": "ATP6V0A1",
                "hgnc_symbol": "ATP6V0A1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:40610862-40674629",
                            "ensembl_id": "ENSG00000033627"
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                    },
                    "GRch38": {
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                            "location": "17:42458844-42522611",
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                    }
                },
                "hgnc_date_symbol_changed": "2002-05-10"
            },
            "entity_type": "gene",
            "entity_name": "ATP6V0A1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "30842224",
                "33057194",
                "34909687",
                "33833240"
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            "evidence": [
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                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "ATP6V0A1-related developmental disorder (monoallelic)"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
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            "panel": {
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                "version_created": "2024-05-02T13:20:12.398046Z",
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                    "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
                    "Severe microcephaly",
                    "R88"
                ],
                "stats": {
                    "number_of_genes": 264,
                    "number_of_strs": 0,
                    "number_of_regions": 7
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    }
                ]
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14630",
                "gene_name": "cysteine rich with EGF like domains 1",
                "omim_gene": [
                    "607170"
                ],
                "alias_name": null,
                "gene_symbol": "CRELD1",
                "hgnc_symbol": "CRELD1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:9975506-9987097",
                            "ensembl_id": "ENSG00000163703"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "3:9933822-9945413",
                            "ensembl_id": "ENSG00000163703"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-02-16"
            },
            "entity_type": "gene",
            "entity_name": "CRELD1",
            "confidence_level": "1",
            "penetrance": "Complete",
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            "publications": [],
            "evidence": [
                "Emory Genetics Laboratory"
            ],
            "phenotypes": [
                "ciliopathies"
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            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 178,
                "hash_id": "55a76be222c1fc6710839b9f",
                "name": "Primary ciliary disorders",
                "disease_group": "Ciliopathies",
                "disease_sub_group": "Respiratory ciliopathies",
                "status": "public",
                "version": "1.42",
                "version_created": "2024-04-09T15:06:27.645728Z",
                "relevant_disorders": [
                    "Primary ciliary dyskinesia"
                ],
                "stats": {
                    "number_of_genes": 144,
                    "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:7865",
                "gene_name": "nodal growth differentiation factor",
                "omim_gene": [
                    "601265"
                ],
                "alias_name": null,
                "gene_symbol": "NODAL",
                "hgnc_symbol": "NODAL",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:72192071-72207707",
                            "ensembl_id": "ENSG00000156574"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "10:70432315-70447951",
                            "ensembl_id": "ENSG00000156574"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-06-05"
            },
            "entity_type": "gene",
            "entity_name": "NODAL",
            "confidence_level": "1",
            "penetrance": "Complete",
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            "publications": [],
            "evidence": [
                "Emory Genetics Laboratory"
            ],
            "phenotypes": [
                "ciliopathies"
            ],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 178,
                "hash_id": "55a76be222c1fc6710839b9f",
                "name": "Primary ciliary disorders",
                "disease_group": "Ciliopathies",
                "disease_sub_group": "Respiratory ciliopathies",
                "status": "public",
                "version": "1.42",
                "version_created": "2024-04-09T15:06:27.645728Z",
                "relevant_disorders": [
                    "Primary ciliary dyskinesia"
                ],
                "stats": {
                    "number_of_genes": 144,
                    "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": [
                    "perlecan",
                    "PRCAN"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:5273",
                "gene_name": "heparan sulfate proteoglycan 2",
                "omim_gene": [
                    "142461"
                ],
                "alias_name": [
                    "perlecan proteoglycan"
                ],
                "gene_symbol": "HSPG2",
                "hgnc_symbol": "HSPG2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:22148738-22263790",
                            "ensembl_id": "ENSG00000142798"
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                    },
                    "GRch38": {
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                            "location": "1:21822245-21937297",
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                },
                "hgnc_date_symbol_changed": "2007-02-16"
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            "entity_type": "gene",
            "entity_name": "HSPG2",
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            "penetrance": "Complete",
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            "publications": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "Expert list",
                "Illumina TruGenome Clinical Sequencing Services",
                "Emory Genetics Laboratory",
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            "phenotypes": [
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                "Schwartz-Jampel syndrome, MONDO:0009717",
                "Dyssegmental dysplasia, Silverman-Handmaker type, OMIM:224410",
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                "hash_id": "5693952f22c1fc251660fb1e",
                "name": "Skeletal dysplasia",
                "disease_group": "Skeletal disorders",
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                "version_created": "2024-05-01T12:36:33.967036Z",
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                    "Skeletal dysplasia",
                    "R104"
                ],
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                    "number_of_strs": 1,
                    "number_of_regions": 6
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
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                        "description": "Rare Disease 100K"
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    },
                    {
                        "name": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "HHG2",
                    "BDA1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:5956",
                "gene_name": "indian hedgehog",
                "omim_gene": [
                    "600726"
                ],
                "alias_name": null,
                "gene_symbol": "IHH",
                "hgnc_symbol": "IHH",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "2:219919142-219925189",
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                    },
                    "GRch38": {
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                },
                "hgnc_date_symbol_changed": "1995-03-21"
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            "entity_type": "gene",
            "entity_name": "IHH",
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            "publications": [],
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                "NHS GMS",
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
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                "Acrocapitofemoral dysplasia, OMIM:607778",
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                    "number_of_regions": 6
                },
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                        "name": "Rare Disease 100K",
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                    {
                        "name": "GMS Rare Disease Virtual",
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                        "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."
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                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "Kir7.1",
                    "Kir1.4",
                    "LCA16"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6259",
                "gene_name": "potassium voltage-gated channel subfamily J member 13",
                "omim_gene": [
                    "603208"
                ],
                "alias_name": null,
                "gene_symbol": "KCNJ13",
                "hgnc_symbol": "KCNJ13",
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                "hgnc_date_symbol_changed": "1998-08-10"
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                "types": [
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                    {
                        "name": "GMS Rare Disease Virtual",
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                    {
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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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            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "ZNF163B"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4238",
                "gene_name": "growth factor independent 1B transcriptional repressor",
                "omim_gene": [
                    "604383"
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                "alias_name": null,
                "gene_symbol": "GFI1B",
                "hgnc_symbol": "GFI1B",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "9:135820932-135867083",
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                    },
                    "GRch38": {
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                            "location": "9:132944000-132991687",
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                },
                "hgnc_date_symbol_changed": "1998-09-17"
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            "entity_type": "gene",
            "entity_name": "GFI1B",
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            "mode_of_pathogenicity": "",
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                "23927492",
                "28041820"
            ],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
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                "Wessex and West Midlands GLH"
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            "phenotypes": [
                "187900 Bleeding disorder, platelet-type, 17"
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            "tags": [],
            "panel": {
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                "version": "3.10",
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                    "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."
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                ]
            },
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        },
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                "hgnc_id": "HGNC:6740",
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                "omim_gene": [
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                "alias_name": [
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                            "location": "12:69742121-69748014",
                            "ensembl_id": "ENSG00000090382"
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                    "GRch38": {
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                            "location": "12:69348341-69354234",
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                "hgnc_date_symbol_changed": "1989-05-25"
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            "entity_type": "gene",
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            "mode_of_pathogenicity": "",
            "publications": [],
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                "NHS GMS"
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            "tags": [],
            "panel": {
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                "hash_id": null,
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                "disease_sub_group": "",
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                "version": "4.3",
                "version_created": "2024-05-02T14:13:01.228428Z",
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                    "Unexplained paediatric onset end-stage renal disease",
                    "R257"
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                    "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": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:40038",
                "gene_name": "PET100 homolog",
                "omim_gene": [
                    "614770"
                ],
                "alias_name": null,
                "gene_symbol": "PET100",
                "hgnc_symbol": "PET100",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                        "82": {
                            "location": "19:7694623-7696842",
                            "ensembl_id": "ENSG00000229833"
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                    "GRch38": {
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                            "location": "19:7629737-7631956",
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                },
                "hgnc_date_symbol_changed": "2012-06-25"
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            "entity_type": "gene",
            "entity_name": "PET100",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "24462369"
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            "evidence": [
                "Expert Review Green"
            ],
            "phenotypes": [
                "Isolated complex IV deficiency",
                "Mitochondrial complex IV deficiency, 220110",
                "Leigh syndrome"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 302,
                "hash_id": "5763f1518f620350a22bccdb",
                "name": "Undiagnosed metabolic disorders",
                "disease_group": "Metabolic disorders",
                "disease_sub_group": "Specific metabolic abnormalities",
                "status": "public",
                "version": "1.617",
                "version_created": "2024-04-16T14:22:42.770171Z",
                "relevant_disorders": [
                    "Undiagnosed Metabolic Panel"
                ],
                "stats": {
                    "number_of_genes": 752,
                    "number_of_strs": 1,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "MTP1",
                    "IREG1",
                    "FPN1",
                    "HFE4"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10909",
                "gene_name": "solute carrier family 40 member 1",
                "omim_gene": [
                    "604653"
                ],
                "alias_name": [
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                "gene_symbol": "SLC40A1",
                "hgnc_symbol": "SLC40A1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:190425305-190448484",
                            "ensembl_id": "ENSG00000138449"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "2:189560579-189583758",
                            "ensembl_id": "ENSG00000138449"
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                    }
                },
                "hgnc_date_symbol_changed": "2003-06-05"
            },
            "entity_type": "gene",
            "entity_name": "SLC40A1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "27604308",
                "11518736",
                "11431687",
                "10471458"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Hemochromatosis, type 4 606069 (Disorder of iron metabolism)",
                "Hereditary haemochromatosis Type 4 (Disorder of iron metabolism)"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 467,
                "hash_id": null,
                "name": "Likely inborn error of metabolism - targeted testing not possible",
                "disease_group": "",
                "disease_sub_group": "",
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                "version": "5.1",
                "version_created": "2024-05-01T12:27:38.187894Z",
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                    "Likely inborn error of metabolism - targeted testing not possible",
                    "Likely inborn error of metabolism",
                    "Inborn errors of metabolism",
                    "R98"
                ],
                "stats": {
                    "number_of_genes": 934,
                    "number_of_strs": 3,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
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                    {
                        "name": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ20157",
                    "AOA",
                    "AOA1",
                    "EAOH",
                    "EOAHA"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:15984",
                "gene_name": "aprataxin",
                "omim_gene": [
                    "606350"
                ],
                "alias_name": null,
                "gene_symbol": "APTX",
                "hgnc_symbol": "APTX",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "9:32972604-33025166",
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                    },
                    "GRch38": {
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                "hgnc_date_symbol_changed": "2001-07-16"
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            "entity_type": "gene",
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            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
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            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
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            "phenotypes": [
                "Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only))",
                "Ataxia with oculomotor apraxia 1",
                "Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920",
                "Disorders of ubiquinone metabolism and biosynthesis"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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            "panel": {
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                    "Likely inborn error of metabolism",
                    "Inborn errors of metabolism",
                    "R98"
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                    "number_of_strs": 3,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
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                    {
                        "name": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
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                    "HCS"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4976",
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                "omim_gene": [
                    "609018"
                ],
                "alias_name": null,
                "gene_symbol": "HLCS",
                "hgnc_symbol": "HLCS",
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                "ensembl_genes": {
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                            "location": "21:38123189-38362536",
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                            "location": "21:36750888-36990236",
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                "Expert Review Green"
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                "Holocarboxylase synthetase deficiency, 253270",
                "lactic acidosis with seizures and eczema, immune deficiency",
                "Holocarboxylase synthetase deficiency (Disorders of biotin metabolism)"
            ],
            "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": "2024-05-01T12:27:38.187894Z",
                "relevant_disorders": [
                    "Likely inborn error of metabolism - targeted testing not possible",
                    "Likely inborn error of metabolism",
                    "Inborn errors of metabolism",
                    "R98"
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                },
                "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"
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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": [],
                "biotype": "protein_coding",
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                    "300391"
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                "alias_name": [
                    "amelogenesis imperfecta 1"
                ],
                "gene_symbol": "AMELX",
                "hgnc_symbol": "AMELX",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "X:11311533-11318881",
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                    },
                    "GRch38": {
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                "hgnc_date_symbol_changed": "1988-05-11"
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            "penetrance": "Complete",
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                "11922869",
                "11839357",
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                "8406474"
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            "evidence": [
                "Expert Review Green",
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            "phenotypes": [
                "Amelogenesis imperfecta, type 1E, 301200",
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                "hypomaturation AI with variable hypoplastic foci",
                "smooth hypoplastic AI"
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            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
            "tags": [
                "deletions"
            ],
            "panel": {
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                "version_created": "2023-10-26T10:36:53.878055Z",
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                    "Amelogenesis Imperfecta",
                    "R340"
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                        "description": "Rare Disease 100K"
                    },
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "HGF",
                    "GF1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11187",
                "gene_name": "SOS Ras/Rac guanine nucleotide exchange factor 1",
                "omim_gene": [
                    "182530"
                ],
                "alias_name": null,
                "gene_symbol": "SOS1",
                "hgnc_symbol": "SOS1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                    "GRch38": {
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                            "location": "2:38981396-39124345",
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                "Expert Review Green"
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                "hash_id": null,
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                "disease_sub_group": "",
                "status": "public",
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                    "Fetal anomalies with a likely genetic cause - non urgent",
                    "R412"
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                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
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                    {
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                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    },
                    {
                        "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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        {
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                "alias": [
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2280",
                "gene_name": "cytochrome c oxidase subunit 6B1",
                "omim_gene": [
                    "124089"
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                "hgnc_symbol": "COX6B1",
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                "ensembl_genes": {
                    "GRch37": {
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                            "location": "19:36139125-36149763",
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                "hgnc_date_symbol_changed": "2004-08-12"
            },
            "entity_type": "gene",
            "entity_name": "COX6B1",
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                "18499082",
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            "evidence": [
                "Expert Review Red",
                "PAGE DD-Gene2Phenotype"
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                "Mitochondrial complex IV deficiency, nuclear type 7, OMIM:619051"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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            "panel": {
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                "disease_sub_group": "",
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                "version_created": "2024-05-01T12:31:15.284727Z",
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                    "Fetal anomalies with a likely genetic cause",
                    "Fetal anomalies with a likely genetic cause - non urgent",
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                    "number_of_strs": 2,
                    "number_of_regions": 1
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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."
                    },
                    {
                        "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": [
                    "COUP-TFII",
                    "COUPTFB",
                    "SVP40",
                    "NF-E3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7976",
                "gene_name": "nuclear receptor subfamily 2 group F member 2",
                "omim_gene": [
                    "107773"
                ],
                "alias_name": null,
                "gene_symbol": "NR2F2",
                "hgnc_symbol": "NR2F2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:96869167-96883492",
                            "ensembl_id": "ENSG00000185551"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:96325938-96340263",
                            "ensembl_id": "ENSG00000185551"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-03-21"
            },
            "entity_type": "gene",
            "entity_name": "NR2F2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "PAGE DD-Gene2Phenotype",
                "Expert Review Green"
            ],
            "phenotypes": [
                "CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 478,
                "hash_id": null,
                "name": "Fetal anomalies",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "4.1",
                "version_created": "2024-05-01T12:31:15.284727Z",
                "relevant_disorders": [
                    "R21",
                    "Fetal anomalies with a likely genetic cause",
                    "Fetal anomalies with a likely genetic cause - non urgent",
                    "R412"
                ],
                "stats": {
                    "number_of_genes": 1988,
                    "number_of_strs": 2,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    },
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CDC2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9175",
                "gene_name": "DNA polymerase delta 1, catalytic subunit",
                "omim_gene": [
                    "174761"
                ],
                "alias_name": [
                    "CDC2 homolog (S. cerevisiae)"
                ],
                "gene_symbol": "POLD1",
                "hgnc_symbol": "POLD1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:50887461-50921273",
                            "ensembl_id": "ENSG00000062822"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:50384204-50418018",
                            "ensembl_id": "ENSG00000062822"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-02-06"
            },
            "entity_type": "gene",
            "entity_name": "POLD1",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "PAGE DD-Gene2Phenotype"
            ],
            "phenotypes": [
                "SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 478,
                "hash_id": null,
                "name": "Fetal anomalies",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "4.1",
                "version_created": "2024-05-01T12:31:15.284727Z",
                "relevant_disorders": [
                    "R21",
                    "Fetal anomalies with a likely genetic cause",
                    "Fetal anomalies with a likely genetic cause - non urgent",
                    "R412"
                ],
                "stats": {
                    "number_of_genes": 1988,
                    "number_of_strs": 2,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    },
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7765",
                "gene_name": "neurofibromin 1",
                "omim_gene": [
                    "613113"
                ],
                "alias_name": [
                    "neurofibromatosis",
                    "von Recklinghausen disease",
                    "Watson disease"
                ],
                "gene_symbol": "NF1",
                "hgnc_symbol": "NF1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:29421945-29709134",
                            "ensembl_id": "ENSG00000196712"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:31094927-31382116",
                            "ensembl_id": "ENSG00000196712"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "NF1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "PAGE DD-Gene2Phenotype",
                "Expert Review Green"
            ],
            "phenotypes": [
                "NEUROFIBROMATOSIS-NOONAN SYNDROME",
                "FAMILIAL SPINAL NEUROFIBROMATOSIS",
                "NEUROFIBROMATOSIS TYPE 1",
                "WATSON SYNDROME"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 478,
                "hash_id": null,
                "name": "Fetal anomalies",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "4.1",
                "version_created": "2024-05-01T12:31:15.284727Z",
                "relevant_disorders": [
                    "R21",
                    "Fetal anomalies with a likely genetic cause",
                    "Fetal anomalies with a likely genetic cause - non urgent",
                    "R412"
                ],
                "stats": {
                    "number_of_genes": 1988,
                    "number_of_strs": 2,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    },
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "MyHC-peri",
                    "MyHC-pn"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7578",
                "gene_name": "myosin heavy chain 8",
                "omim_gene": [
                    "160741"
                ],
                "alias_name": null,
                "gene_symbol": "MYH8",
                "hgnc_symbol": "MYH8",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:10293639-10325267",
                            "ensembl_id": "ENSG00000133020"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:10390322-10421950",
                            "ensembl_id": "ENSG00000133020"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1990-03-12"
            },
            "entity_type": "gene",
            "entity_name": "MYH8",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "PAGE DD-Gene2Phenotype"
            ],
            "phenotypes": [
                "DISTAL ARTHROGRYPOSIS TYPE",
                "CARNEY COMPLEX VARIANT"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 478,
                "hash_id": null,
                "name": "Fetal anomalies",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "4.1",
                "version_created": "2024-05-01T12:31:15.284727Z",
                "relevant_disorders": [
                    "R21",
                    "Fetal anomalies with a likely genetic cause",
                    "Fetal anomalies with a likely genetic cause - non urgent",
                    "R412"
                ],
                "stats": {
                    "number_of_genes": 1988,
                    "number_of_strs": 2,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    },
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "ZGRF7"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11992",
                "gene_name": "DNA topoisomerase III alpha",
                "omim_gene": [
                    "601243"
                ],
                "alias_name": [
                    "zinc finger, GRF-type containing 7"
                ],
                "gene_symbol": "TOP3A",
                "hgnc_symbol": "TOP3A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:18174742-18218321",
                            "ensembl_id": "ENSG00000177302"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:18271428-18315007",
                            "ensembl_id": "ENSG00000177302"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-03-18"
            },
            "entity_type": "gene",
            "entity_name": "TOP3A",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "30193137"
            ],
            "evidence": [
                "Expert Review Green",
                "DD-Gene2Phenotype"
            ],
            "phenotypes": [
                "Bloom Syndrome like Disorder"
            ],
            "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": "4.1",
                "version_created": "2024-05-01T12:31:15.284727Z",
                "relevant_disorders": [
                    "R21",
                    "Fetal anomalies with a likely genetic cause",
                    "Fetal anomalies with a likely genetic cause - non urgent",
                    "R412"
                ],
                "stats": {
                    "number_of_genes": 1988,
                    "number_of_strs": 2,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    },
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "PTHRP",
                    "HHM",
                    "PLP",
                    "PTHR"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9607",
                "gene_name": "parathyroid hormone like hormone",
                "omim_gene": [
                    "168470"
                ],
                "alias_name": [
                    "osteostatin",
                    "parathyroid hormone-like hormone preproprotein",
                    "parathyroid hormone-related protein preproprotein"
                ],
                "gene_symbol": "PTHLH",
                "hgnc_symbol": "PTHLH",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:28111017-28125638",
                            "ensembl_id": "ENSG00000087494"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:27958084-27972705",
                            "ensembl_id": "ENSG00000087494"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "PTHLH",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "PAGE DD-Gene2Phenotype",
                "Expert Review Green"
            ],
            "phenotypes": [
                "BRACHYDACTYLY, TYPE E2",
                "CLUBBING WITH SKELETAL DYSPLASIA INC ACROOSTEOLYSIS"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 478,
                "hash_id": null,
                "name": "Fetal anomalies",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "4.1",
                "version_created": "2024-05-01T12:31:15.284727Z",
                "relevant_disorders": [
                    "R21",
                    "Fetal anomalies with a likely genetic cause",
                    "Fetal anomalies with a likely genetic cause - non urgent",
                    "R412"
                ],
                "stats": {
                    "number_of_genes": 1988,
                    "number_of_strs": 2,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    },
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "MGC14833",
                    "bA6B20.2",
                    "M19",
                    "Cbp6"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21237",
                "gene_name": "ubiquinol-cytochrome c reductase complex assembly factor 2",
                "omim_gene": [
                    "614461"
                ],
                "alias_name": [
                    "cytochrome B protein synthesis 6 homolog (S. cerevisiae)"
                ],
                "gene_symbol": "UQCC2",
                "hgnc_symbol": "UQCC2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "6:33662070-33679504",
                            "ensembl_id": "ENSG00000137288"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:33694293-33711727",
                            "ensembl_id": "ENSG00000137288"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2013-09-20"
            },
            "entity_type": "gene",
            "entity_name": "UQCC2",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "28804536",
                "24385928"
            ],
            "evidence": [
                "Expert Review Amber"
            ],
            "phenotypes": [
                "Mitochondrial complex III deficiency, nuclear type 7, OMIM:615824"
            ],
            "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": "4.1",
                "version_created": "2024-05-01T12:31:15.284727Z",
                "relevant_disorders": [
                    "R21",
                    "Fetal anomalies with a likely genetic cause",
                    "Fetal anomalies with a likely genetic cause - non urgent",
                    "R412"
                ],
                "stats": {
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                    "number_of_strs": 2,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    },
                    {
                        "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": [
                    "FLJ38568",
                    "MRX93"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17342",
                "gene_name": "bromodomain and WD repeat domain containing 3",
                "omim_gene": [
                    "300553"
                ],
                "alias_name": null,
                "gene_symbol": "BRWD3",
                "hgnc_symbol": "BRWD3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:79926353-80065187",
                            "ensembl_id": "ENSG00000165288"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:80670854-80809688",
                            "ensembl_id": "ENSG00000165288"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-01-07"
            },
            "entity_type": "gene",
            "entity_name": "BRWD3",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "34429528",
                "36980886"
            ],
            "evidence": [
                "Literature"
            ],
            "phenotypes": [
                "craniosynostosis, MONDO:0015469"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "tags": [],
            "panel": {
                "id": 168,
                "hash_id": "55b605f722c1fc05fd2345af",
                "name": "Rare syndromic craniosynostosis or isolated multisuture synostosis",
                "disease_group": "Skeletal disorders",
                "disease_sub_group": "Craniosynostosis syndromes",
                "status": "public",
                "version": "5.1",
                "version_created": "2024-05-01T12:43:23.309307Z",
                "relevant_disorders": [
                    "Craniosynostosis syndromes",
                    "Craniosynostosis syndromes phenotypes",
                    "Rare syndromic craniosynostosis or isolated multisuture synostosis",
                    "Craniosynostosis",
                    "R100"
                ],
                "stats": {
                    "number_of_genes": 197,
                    "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": []
        },
        {
            "gene_data": {
                "alias": [
                    "UBE1X",
                    "POC20",
                    "CFAP124"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12469",
                "gene_name": "ubiquitin like modifier activating enzyme 1",
                "omim_gene": [
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                ],
                "alias_name": [
                    "UBA1, ubiquitin-activating enzyme E1 homolog (yeast)",
                    "POC20 centriolar protein homolog (Chlamydomonas)"
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                "gene_symbol": "UBA1",
                "hgnc_symbol": "UBA1",
                "hgnc_release": "2017-11-03T00:00:00",
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                            "location": "X:47050260-47074527",
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                    },
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                            "location": "X:47190861-47215128",
                            "ensembl_id": "ENSG00000130985"
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                    }
                },
                "hgnc_date_symbol_changed": "2007-11-30"
            },
            "entity_type": "gene",
            "entity_name": "UBA1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "23518311"
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            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services"
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            "phenotypes": [
                "Spinal muscular atrophy, X-linked 2, infantile, OMIM:301830"
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            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
            "tags": [],
            "panel": {
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                "hash_id": "5541ef3dbb5a160c33b964e0",
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                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor and Sensory Disorders of the PNS",
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                "version": "3.7",
                "version_created": "2024-05-01T12:37:54.224365Z",
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                "stats": {
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                    "number_of_strs": 2,
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                        "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"
                    },
                    {
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                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    },
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
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                ]
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        },
        {
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                "gene_name": "ryanodine receptor 3",
                "omim_gene": [
                    "180903"
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                "hgnc_symbol": "RYR3",
                "hgnc_release": "2017-11-03",
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            "publications": [
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            "panel": {
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                    "number_of_strs": 1,
                    "number_of_regions": 0
                },
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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
        },
        {
            "gene_data": {
                "alias": [
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                ],
                "biotype": "snoRNA",
                "hgnc_id": "HGNC:32952",
                "gene_name": "small nucleolar RNA, C/D box 118",
                "omim_gene": [
                    "616663"
                ],
                "alias_name": null,
                "gene_symbol": "SNORD118",
                "hgnc_symbol": "SNORD118",
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                "ensembl_genes": {
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                            "location": "17:8076772-8076905",
                            "ensembl_id": "ENSG00000200463"
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                    },
                    "GRch38": {
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                            "location": "17:8173454-8173587",
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                },
                "hgnc_date_symbol_changed": "2006-07-07"
            },
            "entity_type": "gene",
            "entity_name": "SNORD118",
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                "Expert Review Green",
                "DD-Gene2Phenotype"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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            "panel": {
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                "version": "4.3",
                "version_created": "2024-05-02T11:05:03.393985Z",
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                "types": [
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                        "name": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
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                    {
                        "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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        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11275",
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                "omim_gene": [
                    "182790"
                ],
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                    "Fodrin beta chain",
                    "Beta-II spectrin"
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                "hgnc_symbol": "SPTBN1",
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                            "location": "2:54683422-54896812",
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                },
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                "Expert Review Green"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
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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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                        "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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                ]
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            "transcript": null
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        {
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                "alias": [
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                    "MGCR1"
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                "biotype": "protein_coding",
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                "omim_gene": [
                    "156100"
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                "alias_name": [
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                "hgnc_symbol": "MN1",
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                "ensembl_genes": {
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                            "location": "22:28144265-28197486",
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                "hgnc_date_symbol_changed": "1998-06-08"
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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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                    "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",
                    "Intellectual disability - microarray and sequencing",
                    "R29"
                ],
                "stats": {
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                    "number_of_strs": 12,
                    "number_of_regions": 65
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
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                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
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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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                    "DKFZp434E0519"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25187",
                "gene_name": "TAM41 mitochondrial translocator assembly and maintenance homolog",
                "omim_gene": [
                    "614948"
                ],
                "alias_name": null,
                "gene_symbol": "TAMM41",
                "hgnc_symbol": "TAMM41",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:11831916-11888393",
                            "ensembl_id": "ENSG00000144559"
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                        "90": {
                            "location": "3:11790442-11846919",
                            "ensembl_id": "ENSG00000144559"
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                },
                "hgnc_date_symbol_changed": "2011-08-09"
            },
            "entity_type": "gene",
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            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "35321494"
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            "evidence": [
                "Expert Review Green",
                "NHS GMS",
                "Literature"
            ],
            "phenotypes": [
                "Combined oxidative phosphorylation deficiency 56, OMIM:620139"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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                "disease_group": "Metabolic disorders",
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                "version": "6.4",
                "version_created": "2024-05-02T10:46:01.152040Z",
                "relevant_disorders": [
                    "Lactic acidosis",
                    "All recognised syndromes and those with suggestive features"
                ],
                "stats": {
                    "number_of_genes": 487,
                    "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": [
                    "PDC-E2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2896",
                "gene_name": "dihydrolipoamide S-acetyltransferase",
                "omim_gene": [
                    "608770"
                ],
                "alias_name": [
                    "E2 component of pyruvate dehydrogenase complex"
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                "gene_symbol": "DLAT",
                "hgnc_symbol": "DLAT",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:111895538-111935114",
                            "ensembl_id": "ENSG00000150768"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "11:112024814-112064390",
                            "ensembl_id": "ENSG00000150768"
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                    }
                },
                "hgnc_date_symbol_changed": "1989-06-30"
            },
            "entity_type": "gene",
            "entity_name": "DLAT",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Victorian Clinical Genetics Services",
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Pyruvate dehydrogenase E2 deficiency, 245348"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
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                "version": "6.4",
                "version_created": "2024-05-02T10:46:01.152040Z",
                "relevant_disorders": [
                    "Lactic acidosis",
                    "All recognised syndromes and those with suggestive features"
                ],
                "stats": {
                    "number_of_genes": 487,
                    "number_of_strs": 2,
                    "number_of_regions": 1
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                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
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                    },
                    {
                        "name": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "LCA2",
                    "rd12",
                    "BCO3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10294",
                "gene_name": "RPE65, retinoid isomerohydrolase",
                "omim_gene": [
                    "180069"
                ],
                "alias_name": [
                    "BCO family, member 3",
                    "retinol isomerase",
                    "all-trans-retinyl-palmitate hydrolase"
                ],
                "gene_symbol": "RPE65",
                "hgnc_symbol": "RPE65",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:68894505-68915642",
                            "ensembl_id": "ENSG00000116745"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "1:68428822-68449959",
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                    }
                },
                "hgnc_date_symbol_changed": "1993-10-04"
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            "entity_type": "gene",
            "entity_name": "RPE65",
            "confidence_level": "3",
            "penetrance": "Complete",
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                "12960219",
                "15557452",
                "21654732",
                "27307694",
                "29947567"
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            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Leber congenital amaurosis 2, OMIM:204100 (AR)",
                "Retinitis pigmentosa 20, OMIM:613794 (AR)",
                "Retinitis pigmentosa 87 with choroidal involvement, OMIM:618697 (AD)"
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            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [
                "gene-therapy-trial"
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            "panel": {
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                "disease_sub_group": "Posterior segment abnormalities",
                "status": "public",
                "version": "5.4",
                "version_created": "2024-05-02T13:52:40.847312Z",
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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",
                    "Sorsby retinal dystrophy",
                    "Doyne retinal dystrophy",
                    "R32"
                ],
                "stats": {
                    "number_of_genes": 422,
                    "number_of_strs": 1,
                    "number_of_regions": 0
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                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
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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": [
                    "MGC71996",
                    "NBIA3"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3999",
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                "omim_gene": [
                    "134790"
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                "alias_name": [
                    "ferritin light polypeptide-like 3",
                    "L apoferritin",
                    "ferritin L subunit",
                    "ferritin light chain",
                    "ferritin L-chain",
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                "hgnc_symbol": "FTL",
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                "ensembl_genes": {
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                            "location": "19:49468558-49470135",
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                "NHS GMS",
                "London North GLH",
                "Expert Review Green"
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                    "Adult onset movement disorder",
                    "R56"
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                "types": [
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                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
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                    }
                ]
            },
            "transcript": null
        },
        {
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                    "NPHS3"
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                        "description": "Rare Disease 100K"
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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",
                        "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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                    "MGC4093",
                    "MKS10"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:28636",
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                "alias_name": null,
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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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                ]
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        {
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                    "TCS1",
                    "hEST2",
                    "EST2"
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                "hgnc_id": "HGNC:11730",
                "gene_name": "telomerase reverse transcriptase",
                "omim_gene": [
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                "alias_name": null,
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                        "name": "GMS Cancer Germline Virtual",
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                    {
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        {
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                        "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",
                        "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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                    "RD"
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                "omim_gene": [
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                "UKGTN",
                "Emory Genetics Laboratory",
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                    },
                    {
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                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
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                    "CMT4C"
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                    {
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                    "ZIN"
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                "London North GLH"
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                        "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",
                        "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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                    "FLJ20244",
                    "TRM1"
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                "hgnc_id": "HGNC:25980",
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                "omim_gene": [
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                "ensembl_genes": {
                    "GRch37": {
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                    }
                },
                "hgnc_date_symbol_changed": "2005-08-11"
            },
            "entity_type": "gene",
            "entity_name": "TRMT1",
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            "publications": [
                "30847515"
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                "Next Generation Children Project",
                "Expert Review Green",
                "Expert list"
            ],
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                "Mental retardation, autosomal recessive 68, 618302"
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                "version_created": "2024-04-09T15:06:23.215649Z",
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                    "number_of_regions": 0
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                    {
                        "name": "Research",
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                        "description": "This is a gene panel used for research."
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        {
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                "hgnc_id": "HGNC:890",
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                "omim_gene": [
                    "600529"
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                "hgnc_symbol": "AUH",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "9:93976097-94124195",
                            "ensembl_id": "ENSG00000148090"
                        }
                    },
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                            "location": "9:91213815-91361913",
                            "ensembl_id": "ENSG00000148090"
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                    }
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                "hgnc_date_symbol_changed": "1995-10-02"
            },
            "entity_type": "gene",
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                "Next Generation Children Project",
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                "3-methylglutaconic aciduria, type I, 250950"
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                "version_created": "2024-04-09T15:06:23.215649Z",
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                    "number_of_regions": 0
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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": [
                    "ADTB3A",
                    "HPS2"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:566",
                "gene_name": "adaptor related protein complex 3 beta 1 subunit",
                "omim_gene": [
                    "603401"
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                "gene_symbol": "AP3B1",
                "hgnc_symbol": "AP3B1",
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                            "location": "5:77296349-77590579",
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                            "location": "5:78000525-78294755",
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                "hgnc_date_symbol_changed": "2000-09-01"
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            "entity_type": "gene",
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                "Hermansky-Pudlak syndrome 2, 608233"
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                "disease_sub_group": "",
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                "version": "1.184",
                "version_created": "2024-04-09T15:06:23.215649Z",
                "relevant_disorders": [],
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                    "number_of_genes": 2691,
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                    "number_of_regions": 0
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                    {
                        "name": "Research",
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                        "description": "This is a gene panel used for research."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
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                    "CO2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7421",
                "gene_name": "mitochondrially encoded cytochrome c oxidase II",
                "omim_gene": [
                    "516040"
                ],
                "alias_name": null,
                "gene_symbol": "MT-CO2",
                "hgnc_symbol": "MT-CO2",
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                    },
                    "GRch38": {
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                "hgnc_date_symbol_changed": "2005-02-16"
            },
            "entity_type": "gene",
            "entity_name": "MT-CO2",
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                "25929793",
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                "NHS GMS",
                "Expert Review Green"
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            "phenotypes": [
                "Cytochrome oxidase deficiency, rhabdomyolysis"
            ],
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                "gene-checked"
            ],
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                "disease_sub_group": "Neuromuscular disorders",
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                "relevant_disorders": [
                    "R419"
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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."
                    },
                    {
                        "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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    ]
}