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                },
                "types": [
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                        "name": "Research",
                        "slug": "research",
                        "description": "This is a gene panel used for research."
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                ]
            },
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                "types": [
                    {
                        "name": "Research",
                        "slug": "research",
                        "description": "This is a gene panel used for research."
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            },
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        },
        {
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                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9173",
                "gene_name": "DNA polymerase alpha 1, catalytic subunit",
                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "POLA1",
                "hgnc_symbol": "POLA1",
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                "ensembl_genes": {
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                        "82": {
                            "location": "X:24712036-25015103",
                            "ensembl_id": "ENSG00000101868"
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                    "GRch38": {
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                            "location": "X:24693919-24996986",
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                "hgnc_date_symbol_changed": "2006-09-26"
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            "entity_type": "gene",
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                "Pigmentary disorder, reticulate, with systemic manifestations, X-linked 301220",
                "X-linked reticulate pigmentary disorder",
                "x-linked cutaneous amyloidosis with systemic features"
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            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
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            "panel": {
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                "disease_group": "Viral research",
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                "version_created": "2024-04-24T16:30:10.989811Z",
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                    "number_of_strs": 0,
                    "number_of_regions": 2
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                "types": [
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                        "name": "Research",
                        "slug": "research",
                        "description": "This is a gene panel used for research."
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            },
            "transcript": null
        },
        {
            "gene_data": {
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                    "KIAA0728",
                    "FLJ21489",
                    "FLJ13425",
                    "FLJ32235",
                    "FLJ30627",
                    "CATX-15",
                    "BPA",
                    "MACF2"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1090",
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                "omim_gene": [
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                "alias_name": null,
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                "hgnc_symbol": "DST",
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                "ensembl_genes": {
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                "Epidermolysis bullosa simplex, autosomal recessive 2, 615425",
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                        "name": "Rare Disease 100K",
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                ]
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        {
            "gene_data": {
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                "hgnc_id": "HGNC:5144",
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                "hgnc_date_symbol_changed": "1994-12-14"
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                "Expert Review Green",
                "Expert list"
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                "generalized dystonia with additional neurological features"
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            "panel": {
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                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.147",
                "version_created": "2023-12-05T17:16:55.463100Z",
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                ]
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        },
        {
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                "hgnc_symbol": "VRK1",
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                "hgnc_date_symbol_changed": "1997-06-12"
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            "panel": {
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                    {
                        "name": "Component Of Super Panel",
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                        "description": "This panel is a component of a Super Panel"
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                    {
                        "name": "GMS signed-off",
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                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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                ]
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        {
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                "version_created": "2019-07-09T14:10:48.357036Z",
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                "types": [
                    {
                        "name": "Reference",
                        "slug": "reference",
                        "description": "Reference"
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                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
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                "hgnc_symbol": "TGFB3",
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                "hgnc_date_symbol_changed": "1989-05-10"
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                "version_created": "2023-10-26T01:19:54.026802Z",
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                    "R190"
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                        "name": "GMS signed-off",
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                    {
                        "name": "GMS Rare Disease Virtual",
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        {
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                    {
                        "name": "GMS Cancer Germline Virtual",
                        "slug": "gms-cancer-germline-virtual",
                        "description": "This is a panel used for WGS germline analysis for the GMS."
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    },
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "NESP55",
                    "NESP",
                    "GNASXL",
                    "GPSA",
                    "SCG6",
                    "SgVI"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4392",
                "gene_name": "GNAS complex locus",
                "omim_gene": [
                    "139320"
                ],
                "alias_name": [
                    "secretogranin VI",
                    "G protein subunit alpha S"
                ],
                "gene_symbol": "GNAS",
                "hgnc_symbol": "GNAS",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "20:57414773-57486247",
                            "ensembl_id": "ENSG00000087460"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "20:58839718-58911192",
                            "ensembl_id": "ENSG00000087460"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-12-20"
            },
            "entity_type": "gene",
            "entity_name": "GNAS",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [],
            "evidence": [
                "NHS GMS",
                "Emory Genetics Laboratory",
                "Expert Review Green",
                "London South East RGC GSTT",
                "Viapath"
            ],
            "phenotypes": [
                "Pseudohypoparathyroidism Ia, OMIM:103580",
                "pseudohypoparathyroidism type 1A, MONDO:0007078",
                "Pseudohypoparathyroidism Ib, OMIM:603233",
                "pseudohypoparathyroidism type 1B, MONDO:0011301",
                "Pseudohypoparathyroidism Ic, OMIM:612462",
                "pseudohypoparathyroidism type 1C, MONDO:0012911",
                "McCune-Albright syndrome, somatic, mosaic, OMIM:174800",
                "panostotic fibrous dysplasia, MONDO:0043168",
                "Osseous heteroplasia, progressive, OMIM:166350",
                "ACTH-independent macronodular adrenal hyperplasia. OMIM:219080",
                "ACTH-independent macronodular adrenal hyperplasia 1, MONDO:0020735",
                "Pseudopseudohypoparathyroidism, OMIM:612463",
                "pseudopseudohypoparathyroidism, MONDO:0012912"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [
                "mosaicism"
            ],
            "panel": {
                "id": 384,
                "hash_id": null,
                "name": "Limb disorders",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "5.4",
                "version_created": "2024-05-04T15:32:20.063344Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 260,
                    "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": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7216",
                "gene_name": "mannose phosphate isomerase",
                "omim_gene": [
                    "154550"
                ],
                "alias_name": [
                    "mannose-6-phosphate isomerase"
                ],
                "gene_symbol": "MPI",
                "hgnc_symbol": "MPI",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:75182346-75191798",
                            "ensembl_id": "ENSG00000178802"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:74890005-74902219",
                            "ensembl_id": "ENSG00000178802"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "MPI",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "12414827",
                "9585601",
                "10980531",
                "33098580",
                "33204592",
                "32905087",
                "32266963",
                "30242110",
                "33413482",
                "28108845"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Congenital disorder of glycosylation, type Ib, OMIM:602579",
                "MPI-CDG, MONDO:0011257"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 544,
                "hash_id": null,
                "name": "Cholestasis",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "3.4",
                "version_created": "2023-10-26T01:15:45.650619Z",
                "relevant_disorders": [
                    "R171"
                ],
                "stats": {
                    "number_of_genes": 78,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "RIPE3b1",
                    "hMafA"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:23145",
                "gene_name": "MAF bZIP transcription factor A",
                "omim_gene": [
                    "610303"
                ],
                "alias_name": null,
                "gene_symbol": "MAFA",
                "hgnc_symbol": "MAFA",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:144501352-144512576",
                            "ensembl_id": "ENSG00000182759"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "8:143419182-143430406",
                            "ensembl_id": "ENSG00000182759"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-01-30"
            },
            "entity_type": "gene",
            "entity_name": "MAFA",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "NHS GMS"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 308,
                "hash_id": "553f9781bb5a1616e5ed45f4",
                "name": "Congenital hyperinsulinism",
                "disease_group": "Endocrine disorders",
                "disease_sub_group": "Disorders of unusual phenotypes",
                "status": "public",
                "version": "3.4",
                "version_created": "2023-10-26T01:03:07.711656Z",
                "relevant_disorders": [
                    "Hyperinsulinism",
                    "R144"
                ],
                "stats": {
                    "number_of_genes": 24,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "KIAA0266",
                    "CDG1P"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:32456",
                "gene_name": "ALG11, alpha-1,2-mannosyltransferase",
                "omim_gene": [
                    "613666"
                ],
                "alias_name": [
                    "GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"
                ],
                "gene_symbol": "ALG11",
                "hgnc_symbol": "ALG11",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "13:52586534-52603800",
                            "ensembl_id": "ENSG00000253710"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "13:52012398-52029664",
                            "ensembl_id": "ENSG00000253710"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-03-24"
            },
            "entity_type": "gene",
            "entity_name": "ALG11",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "27604308",
                "22213132"
            ],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "Literature",
                "Illumina TruGenome Clinical Sequencing Services",
                "Emory Genetics Laboratory"
            ],
            "phenotypes": [
                "Congenital disorder of glycosylation, type Ip 613661",
                "ALG11-CDG (Disorders of protein N-glycosylation)"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 25,
                "hash_id": "58346b8b8f62036225ca8a7d",
                "name": "Congenital disorders of glycosylation",
                "disease_group": "Metabolic disorders",
                "disease_sub_group": "Specific metabolic abnormalities",
                "status": "public",
                "version": "5.3",
                "version_created": "2024-05-04T11:48:06.044747Z",
                "relevant_disorders": [
                    "Congential disorders of glycosylation"
                ],
                "stats": {
                    "number_of_genes": 117,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    },
                    {
                        "name": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    },
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "ATX3",
                    "JOS"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7106",
                "gene_name": "ataxin 3",
                "omim_gene": [
                    "607047"
                ],
                "alias_name": null,
                "gene_symbol": "ATXN3",
                "hgnc_symbol": "ATXN3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:92524896-92572965",
                            "ensembl_id": "ENSG00000066427"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "14:92038652-92106621",
                            "ensembl_id": "ENSG00000066427"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-08-13"
            },
            "entity_type": "gene",
            "entity_name": "ATXN3",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "Other - please provide details in the comments",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "Eligibility statement prior genetic testing"
            ],
            "phenotypes": [
                "Machado-Joseph disease, OMIM:109150"
            ],
            "mode_of_inheritance": "Other",
            "tags": [
                "currently-ngs-unreportable",
                "nucleotide-repeat-expansion"
            ],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.332",
                "version_created": "2024-01-23T16:09:17.853479Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 167,
                    "number_of_strs": 14,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "GTC90"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14857",
                "gene_name": "component of oligomeric golgi complex 5",
                "omim_gene": [
                    "606821"
                ],
                "alias_name": null,
                "gene_symbol": "COG5",
                "hgnc_symbol": "COG5",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:106842000-107204959",
                            "ensembl_id": "ENSG00000164597"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:107201555-107564514",
                            "ensembl_id": "ENSG00000164597"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-05-10"
            },
            "entity_type": "gene",
            "entity_name": "COG5",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "19690088",
                "28960046"
            ],
            "evidence": [
                "Expert Review Amber",
                "Literature"
            ],
            "phenotypes": [
                "Congenital disorder of glycosylation, type IIi\t613612"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.332",
                "version_created": "2024-01-23T16:09:17.853479Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 167,
                    "number_of_strs": 14,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CHS"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1968",
                "gene_name": "lysosomal trafficking regulator",
                "omim_gene": [
                    "606897"
                ],
                "alias_name": null,
                "gene_symbol": "LYST",
                "hgnc_symbol": "LYST",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:235824341-236046940",
                            "ensembl_id": "ENSG00000143669"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:235661041-235883640",
                            "ensembl_id": "ENSG00000143669"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-12-10"
            },
            "entity_type": "gene",
            "entity_name": "LYST",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BRIDGE Study Tier 1 Gene"
            ],
            "phenotypes": [
                "Chediak-Higashi syndrome (CHS)"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 175,
                "hash_id": "5763f32a8f620350a22bccde",
                "name": "Inherited bleeding disorders",
                "disease_group": "Haematological and immunological disorders",
                "disease_sub_group": "Haemostasis disorders",
                "status": "public",
                "version": "1.178",
                "version_created": "2024-04-24T16:33:37.770679Z",
                "relevant_disorders": [
                    "Inherited platelet disorders",
                    "Monogenic thrombophilia",
                    "Inherited bleeding and or platelet disorders",
                    "Unprovoked Thrombosis before 40",
                    "Monogenic venous thrombosis"
                ],
                "stats": {
                    "number_of_genes": 119,
                    "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": [
                    "FLJ23191"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26256",
                "gene_name": "neuron derived neurotrophic factor",
                "omim_gene": [
                    "616506"
                ],
                "alias_name": null,
                "gene_symbol": "NDNF",
                "hgnc_symbol": "NDNF",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:121956768-121994176",
                            "ensembl_id": "ENSG00000173376"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:121035613-121073021",
                            "ensembl_id": "ENSG00000173376"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2011-07-05"
            },
            "entity_type": "gene",
            "entity_name": "NDNF",
            "confidence_level": "3",
            "penetrance": "unknown",
            "mode_of_pathogenicity": null,
            "publications": [
                "31883645",
                "36245975"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Hypogonadotropic hypogonadism 25 with anosmia, OMIM:618841"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 650,
                "hash_id": null,
                "name": "Hypogonadotropic hypogonadism (GMS)",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "3.18",
                "version_created": "2024-04-17T09:27:04.499719Z",
                "relevant_disorders": [
                    "Hypogonadotropic hypogonadism idiopathic",
                    "R148"
                ],
                "stats": {
                    "number_of_genes": 47,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "SEMAK",
                    "Sema4"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10728",
                "gene_name": "semaphorin 3F",
                "omim_gene": [
                    "601124"
                ],
                "alias_name": [
                    "sema IV"
                ],
                "gene_symbol": "SEMA3F",
                "hgnc_symbol": "SEMA3F",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:50192478-50226508",
                            "ensembl_id": "ENSG00000001617"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:50155045-50189075",
                            "ensembl_id": "ENSG00000001617"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-12-18"
            },
            "entity_type": "gene",
            "entity_name": "SEMA3F",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "33495532"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
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            "penetrance": "Complete",
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                "Expert Review Green",
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                    {
                        "name": "GMS Rare Disease Virtual",
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                    {
                        "name": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
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                    },
                    {
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                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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                ]
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        },
        {
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                "alias_name": [
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                "hgnc_symbol": "COL5A2",
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                            "location": "2:189896622-190044605",
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                "hgnc_date_symbol_changed": "2001-06-22"
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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",
                        "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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        {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10327",
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                "omim_gene": [
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                "hgnc_symbol": "RPL26",
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                            "location": "17:8280838-8286531",
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                "hgnc_date_symbol_changed": "1993-06-15"
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            "entity_type": "gene",
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                "London South GLH",
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                "version_created": "2024-04-26T11:10:11.443530Z",
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                "stats": {
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                "types": [
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                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    },
                    {
                        "name": "GMS signed-off",
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                    {
                        "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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                    "HEED"
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                            "location": "11:85955586-85989855",
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                "hgnc_date_symbol_changed": "1998-12-09"
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                    "number_of_regions": 1
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                "types": [
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                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
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            "transcript": null
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        {
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                    "rd16",
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                    "BBS14",
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                    "POC3"
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                "hgnc_date_symbol_changed": "2006-02-20"
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                    {
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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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                        "description": "This panel is a component of a Super Panel"
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                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    }
                ]
            },
            "transcript": null
        },
        {
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                    "QCR1",
                    "UQCR1"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12585",
                "gene_name": "ubiquinol-cytochrome c reductase core protein 1",
                "omim_gene": [
                    "191328"
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                "alias_name": null,
                "gene_symbol": "UQCRC1",
                "hgnc_symbol": "UQCRC1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "3:48636435-48648409",
                            "ensembl_id": "ENSG00000010256"
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                "hgnc_date_symbol_changed": "1993-07-09"
            },
            "entity_type": "gene",
            "entity_name": "UQCRC1",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "30788857",
                "33141179",
                "33779694",
                "33248804"
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            "evidence": [
                "Expert Review Amber"
            ],
            "phenotypes": [
                "Parkinsonism with polyneuropathy, OMIM:619279"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
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                "hash_id": null,
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                    "Likely inborn error of metabolism",
                    "Inborn errors of metabolism",
                    "R98"
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                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
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                    },
                    {
                        "name": "Component Of Super Panel",
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                        "description": "This panel is a component of a Super Panel"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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                ]
            },
            "transcript": null
        },
        {
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                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:291",
                "gene_name": "adenylosuccinate lyase",
                "omim_gene": [
                    "608222"
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                "alias_name": null,
                "gene_symbol": "ADSL",
                "hgnc_symbol": "ADSL",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "22:40742507-40786467",
                            "ensembl_id": "ENSG00000239900"
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                    "GRch38": {
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                            "location": "22:40346500-40390463",
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                },
                "hgnc_date_symbol_changed": "1986-01-01"
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            "entity_type": "gene",
            "entity_name": "ADSL",
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            "mode_of_pathogenicity": "",
            "publications": [
                "27604308"
            ],
            "evidence": [
                "Expert Review Green",
                "London North GLH",
                "NHS GMS"
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            "phenotypes": [
                "Intellectual disability",
                "Epileptic encephalopathy",
                "Adenylosuccinate lyase deficiency (Disorders of purine metabolism)"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
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                    "Likely inborn error of metabolism - targeted testing not possible",
                    "Likely inborn error of metabolism",
                    "Inborn errors of metabolism",
                    "R98"
                ],
                "stats": {
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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",
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                        "description": "This panel is a component of a Super Panel"
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                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "KIAA1140"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:19750",
                "gene_name": "tetratricopeptide repeat domain 7A",
                "omim_gene": [
                    "609332"
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                "alias_name": null,
                "gene_symbol": "TTC7A",
                "hgnc_symbol": "TTC7A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "2:47143296-47303276",
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                },
                "hgnc_date_symbol_changed": "2004-06-02"
            },
            "entity_type": "gene",
            "entity_name": "TTC7A",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
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                "23423984",
                "24292712",
                "23830146",
                "25174867",
                "25174867"
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            "evidence": [
                "Expert Review Red",
                "Expert list"
            ],
            "phenotypes": [
                "anorectal malformation",
                "Gastrointestinal defects and immunodeficiency syndrome 243150",
                "INTESTINAL ATRESIA, MULTIPLE"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
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                "name": "Non-syndromic familial congenital anorectal malformations",
                "disease_group": "Gastroenterological disorders",
                "disease_sub_group": "Gastrointestinal disorders",
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                "version": "1.9",
                "version_created": "2024-03-26T14:53:37.550551Z",
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                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "NUP84"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29914",
                "gene_name": "nucleoporin 107",
                "omim_gene": [
                    "607617"
                ],
                "alias_name": null,
                "gene_symbol": "NUP107",
                "hgnc_symbol": "NUP107",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "12:69080514-69136785",
                            "ensembl_id": "ENSG00000111581"
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                    },
                    "GRch38": {
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                            "location": "12:68686734-68745809",
                            "ensembl_id": "ENSG00000111581"
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                },
                "hgnc_date_symbol_changed": "2004-03-19"
            },
            "entity_type": "gene",
            "entity_name": "NUP107",
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            "evidence": [
                "PAGE DD-Gene2Phenotype",
                "Expert Review Green"
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            "phenotypes": [
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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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_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": [
                    "IKK-gamma",
                    "NEMO",
                    "Fip3p",
                    "FIP-3",
                    "FIP3",
                    "ZC2HC9"
                ],
                "biotype": null,
                "hgnc_id": "HGNC:5961",
                "gene_name": "inhibitor of nuclear factor kappa B kinase subunit gamma",
                "omim_gene": [
                    "300248"
                ],
                "alias_name": null,
                "gene_symbol": "IKBKG",
                "hgnc_symbol": "IKBKG",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "X:153769414-153796782",
                            "ensembl_id": "ENSG00000073009"
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                    },
                    "GRch38": {
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                    }
                },
                "hgnc_date_symbol_changed": "1998-09-30"
            },
            "entity_type": "gene",
            "entity_name": "IKBKG",
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            "evidence": [
                "PAGE DD-Gene2Phenotype",
                "Expert Review Green"
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                "ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY X-LINKED",
                "IMMUNODEFICIENCY NEMO-RELATED WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA"
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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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                    "Fetal anomalies with a likely genetic cause",
                    "Fetal anomalies with a likely genetic cause - non urgent",
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                },
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                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
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                    {
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                        "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": {
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                "omim_gene": [
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                "hgnc_symbol": "UGT1A1",
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                "ensembl_genes": {
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                            "location": "2:234526291-234681956",
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                    "GRch38": {
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                },
                "hgnc_date_symbol_changed": "1989-02-13"
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            "entity_type": "gene",
            "entity_name": "UGT1A1",
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                "Expert Review Red",
                "PAGE DD-Gene2Phenotype"
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            "phenotypes": [
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            "tags": [],
            "panel": {
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                "disease_sub_group": "",
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                    "Fetal anomalies with a likely genetic cause",
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                ],
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                },
                "types": [
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                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
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                    },
                    {
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                        "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",
                        "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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                    "bA120J8.2",
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                    "TFB5",
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                    "TTDA"
                ],
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                "gene_name": "general transcription factor IIH subunit 5",
                "omim_gene": [
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                },
                "hgnc_date_symbol_changed": "2004-07-16"
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            "entity_type": "gene",
            "entity_name": "GTF2H5",
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                "PAGE DD-Gene2Phenotype",
                "Expert Review Green"
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            "phenotypes": [
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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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                        "slug": "gms-rare-disease",
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                ]
            },
            "transcript": null
        },
        {
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                    "CYP5A1",
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                    "TXAS",
                    "TS"
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                "hgnc_id": "HGNC:11609",
                "gene_name": "thromboxane A synthase 1",
                "omim_gene": [
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                ],
                "alias_name": [
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                "gene_symbol": "TBXAS1",
                "hgnc_symbol": "TBXAS1",
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                "ensembl_genes": {
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                    },
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                            "location": "7:139777051-140020325",
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                    }
                },
                "hgnc_date_symbol_changed": "1992-10-07"
            },
            "entity_type": "gene",
            "entity_name": "TBXAS1",
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            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "PAGE DD-Gene2Phenotype"
            ],
            "phenotypes": [
                "GHOSAL HEMATODIAPHYSEAL SYNDROME"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 478,
                "hash_id": null,
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                },
                "types": [
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                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
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                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    },
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "SEN54",
                    "SEN54L"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:27561",
                "gene_name": "tRNA splicing endonuclease subunit 54",
                "omim_gene": [
                    "608755"
                ],
                "alias_name": null,
                "gene_symbol": "TSEN54",
                "hgnc_symbol": "TSEN54",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:73512141-73520820",
                            "ensembl_id": "ENSG00000182173"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:75516060-75524739",
                            "ensembl_id": "ENSG00000182173"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-03-11"
            },
            "entity_type": "gene",
            "entity_name": "TSEN54",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "16470708",
                "20956791",
                "20952379"
            ],
            "evidence": [
                "PAGE DD-Gene2Phenotype",
                "Expert Review Green"
            ],
            "phenotypes": [
                "?Pontocerebellar hypoplasia type 5, OMIM:610204",
                "Pontocerebellar hypoplasia type 2A, OMIM:277470",
                "Pontocerebellar hypoplasia type 4, OMIM:225753"
            ],
            "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": [
                    "TYKY",
                    "CI-23k"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7715",
                "gene_name": "NADH:ubiquinone oxidoreductase core subunit S8",
                "omim_gene": [
                    "602141"
                ],
                "alias_name": [
                    "complex I 23kDa subunit",
                    "NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial"
                ],
                "gene_symbol": "NDUFS8",
                "hgnc_symbol": "NDUFS8",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:67798084-67804111",
                            "ensembl_id": "ENSG00000110717"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:68030617-68036644",
                            "ensembl_id": "ENSG00000110717"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1996-07-26"
            },
            "entity_type": "gene",
            "entity_name": "NDUFS8",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "PAGE DD-Gene2Phenotype"
            ],
            "phenotypes": [
                "MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 478,
                "hash_id": null,
                "name": "Fetal anomalies",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "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": [
                    "FLJ11457",
                    "JBTS11",
                    "NPHP12",
                    "IFT139B",
                    "THM1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25660",
                "gene_name": "tetratricopeptide repeat domain 21B",
                "omim_gene": [
                    "612014"
                ],
                "alias_name": null,
                "gene_symbol": "TTC21B",
                "hgnc_symbol": "TTC21B",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:166713985-166810353",
                            "ensembl_id": "ENSG00000123607"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:165857475-165953843",
                            "ensembl_id": "ENSG00000123607"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-01-26"
            },
            "entity_type": "gene",
            "entity_name": "TTC21B",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "PAGE Additional Gene List",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Short-rib thoracic dysplasia 4 with or without polydactyly 613819"
            ],
            "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": [
                    "THIL"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:93",
                "gene_name": "acetyl-CoA acetyltransferase 1",
                "omim_gene": [
                    "607809"
                ],
                "alias_name": [
                    "acetoacetyl Coenzyme A thiolase"
                ],
                "gene_symbol": "ACAT1",
                "hgnc_symbol": "ACAT1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:107992243-108018503",
                            "ensembl_id": "ENSG00000075239"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:108121516-108147776",
                            "ensembl_id": "ENSG00000075239"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-08-12"
            },
            "entity_type": "gene",
            "entity_name": "ACAT1",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "PAGE DD-Gene2Phenotype"
            ],
            "phenotypes": [
                "ALPHA-METHYLACETOACETIC ACIDURIA"
            ],
            "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": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7576",
                "gene_name": "myosin heavy chain 6",
                "omim_gene": [
                    "160710"
                ],
                "alias_name": [
                    "cardiomyopathy, hypertrophic 1"
                ],
                "gene_symbol": "MYH6",
                "hgnc_symbol": "MYH6",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:23851199-23877486",
                            "ensembl_id": "ENSG00000197616"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "14:23381990-23408277",
                            "ensembl_id": "ENSG00000197616"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "MYH6",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "PAGE DD-Gene2Phenotype"
            ],
            "phenotypes": [
                "ATRIAL SEPTAL DEFECT TYPE 3",
                "CARDIOMYOPATHY DILATED TYPE 1EE",
                "CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 478,
                "hash_id": null,
                "name": "Fetal anomalies",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "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": [
                    "HDR"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4172",
                "gene_name": "GATA binding protein 3",
                "omim_gene": [
                    "131320"
                ],
                "alias_name": null,
                "gene_symbol": "GATA3",
                "hgnc_symbol": "GATA3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:8095567-8117161",
                            "ensembl_id": "ENSG00000107485"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:8053604-8075198",
                            "ensembl_id": "ENSG00000107485"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-11-03"
            },
            "entity_type": "gene",
            "entity_name": "GATA3",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Hypoparathyroidism, sensorineural deafness, and renal dysplasia, OMIM:146255",
                "Hypoparathyroidism-deafness-renal disease syndrome, MONDO:0007797"
            ],
            "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:12776",
                "gene_name": "Wnt family member 11",
                "omim_gene": [
                    "603699"
                ],
                "alias_name": null,
                "gene_symbol": "WNT11",
                "hgnc_symbol": "WNT11",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:75897369-75921780",
                            "ensembl_id": "ENSG00000085741"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:76186325-76210736",
                            "ensembl_id": "ENSG00000085741"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-08-06"
            },
            "entity_type": "gene",
            "entity_name": "WNT11",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "34875064"
            ],
            "evidence": [
                "Expert Review Amber",
                "Literature"
            ],
            "phenotypes": [
                "osteoporosis, MONDO:0005298",
                "osteoarthritis, MONDO:0005178",
                "recurrent fractures"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [
                "Q1_23_promote_green"
            ],
            "panel": {
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                "hash_id": "55896ed2bb5a1671a7fef4f9",
                "name": "Osteogenesis imperfecta",
                "disease_group": "Skeletal disorders",
                "disease_sub_group": "Skeletal dysplasias",
                "status": "public",
                "version": "4.5",
                "version_created": "2024-04-09T15:05:53.683940Z",
                "relevant_disorders": [
                    "Osteogenesis Imperfecta",
                    "R102"
                ],
                "stats": {
                    "number_of_genes": 191,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    },
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    }
                ]
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ14937"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13841",
                "gene_name": "adhesion G protein-coupled receptor G6",
                "omim_gene": [
                    "612243"
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                "alias_name": null,
                "gene_symbol": "ADGRG6",
                "hgnc_symbol": "ADGRG6",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "6:142622991-142767403",
                            "ensembl_id": "ENSG00000112414"
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                    },
                    "GRch38": {
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                    }
                },
                "hgnc_date_symbol_changed": "2015-03-03"
            },
            "entity_type": "gene",
            "entity_name": "ADGRG6",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "26004201"
            ],
            "evidence": [
                "DD-Gene2Phenotype",
                "Expert Review Green"
            ],
            "phenotypes": [
                "LETHAL CONGENITAL CONTRACTURE SYNDROME 9 616503"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 484,
                "hash_id": null,
                "name": "DDG2P",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "4.3",
                "version_created": "2024-05-02T11:05:03.393985Z",
                "relevant_disorders": [],
                "stats": {
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                    "number_of_strs": 1,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    },
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "KIAA0902",
                    "CNK2",
                    "KSR2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:19701",
                "gene_name": "connector enhancer of kinase suppressor of Ras 2",
                "omim_gene": [
                    "300724"
                ],
                "alias_name": null,
                "gene_symbol": "CNKSR2",
                "hgnc_symbol": "CNKSR2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:21392536-21672813",
                            "ensembl_id": "ENSG00000149970"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:21374418-21654695",
                            "ensembl_id": "ENSG00000149970"
                        }
                    }
                },
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                "22511892"
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                "Expert Review Green",
                "DD-Gene2Phenotype"
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            "phenotypes": [
                "INTELLECTUAL DISABILITY WITH EPILEPSY"
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            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
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                "types": [
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                        "name": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    },
                    {
                        "name": "GMS signed-off",
                        "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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        },
        {
            "gene_data": {
                "alias": [
                    "MCCA"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6936",
                "gene_name": "methylcrotonoyl-CoA carboxylase 1",
                "omim_gene": [
                    "609010"
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                "alias_name": [
                    "methylcrotonoyl-CoA carboxylase alpha"
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                "hgnc_symbol": "MCCC1",
                "hgnc_release": "2017-11-03",
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                        "82": {
                            "location": "3:182733006-182833863",
                            "ensembl_id": "ENSG00000078070"
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                            "location": "3:183015218-183116075",
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                "hgnc_date_symbol_changed": "1992-12-07"
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                "Expert Review Green"
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                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
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                    },
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "PI3K"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8975",
                "gene_name": "phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",
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                    "171834"
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                            "location": "3:178865902-178957881",
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                            "ensembl_id": "ENSG00000121879"
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                "22729224"
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                        "name": "Component Of Super Panel",
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                        "description": "This panel is a component of a Super Panel"
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                    {
                        "name": "GMS signed-off",
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                    {
                        "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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        {
            "gene_data": {
                "alias": [
                    "PCB"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8636",
                "gene_name": "pyruvate carboxylase",
                "omim_gene": [
                    "608786"
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                "alias_name": null,
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                            "location": "11:66615704-66725847",
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        {
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                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
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        {
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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": [
                    "AIBP",
                    "MGC119143",
                    "MGC119144",
                    "MGC119145",
                    "YJEFN1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:18453",
                "gene_name": "NAD(P)HX epimerase",
                "omim_gene": [
                    "608862"
                ],
                "alias_name": [
                    "apoA-I binding protein",
                    "NAD(P)H-hydrate epimerase"
                ],
                "gene_symbol": "NAXE",
                "hgnc_symbol": "NAXE",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:156561554-156564091",
                            "ensembl_id": "ENSG00000163382"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:156591762-156594299",
                            "ensembl_id": "ENSG00000163382"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2016-03-09"
            },
            "entity_type": "gene",
            "entity_name": "NAXE",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "27616477",
                "27290639",
                "27122014"
            ],
            "evidence": [
                "Expert Review Green",
                "Victorian Clinical Genetics Services"
            ],
            "phenotypes": [
                "Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, OMIM:617186"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 112,
                "hash_id": "55928cf522c1fc4f7d26e960",
                "name": "Mitochondrial disorders",
                "disease_group": "Metabolic disorders",
                "disease_sub_group": "Mitochondrial",
                "status": "public",
                "version": "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": [
                    "SPAX5"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:315",
                "gene_name": "AFG3 like matrix AAA peptidase subunit 2",
                "omim_gene": [
                    "604581"
                ],
                "alias_name": null,
                "gene_symbol": "AFG3L2",
                "hgnc_symbol": "AFG3L2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "18:12328943-12377313",
                            "ensembl_id": "ENSG00000141385"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "18:12328944-12377314",
                            "ensembl_id": "ENSG00000141385"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-07-13"
            },
            "entity_type": "gene",
            "entity_name": "AFG3L2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "29181157",
                "26539208",
                "30252181",
                "30389403",
                "32219868",
                "32600459",
                "32548275"
            ],
            "evidence": [
                "Expert Review Green",
                "NHS GMS",
                "RetNet"
            ],
            "phenotypes": [
                "Optic atrophy 12, OMIM:618977, MONDO:0033549",
                "Spastic ataxia 5, autosomal recessive, OMIM:614487"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 307,
                "hash_id": "56e0238b22c1fc09c97a6e46",
                "name": "Retinal disorders",
                "disease_group": "Ophthalmological disorders",
                "disease_sub_group": "Posterior segment abnormalities",
                "status": "public",
                "version": "5.4",
                "version_created": "2024-05-02T13:52:40.847312Z",
                "relevant_disorders": [
                    "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
                },
                "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": [
                    "RCNC1",
                    "RCNCa",
                    "CNG1",
                    "RP49"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2148",
                "gene_name": "cyclic nucleotide gated channel alpha 1",
                "omim_gene": [
                    "123825"
                ],
                "alias_name": null,
                "gene_symbol": "CNGA1",
                "hgnc_symbol": "CNGA1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:47937994-48018689",
                            "ensembl_id": "ENSG00000198515"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:47935977-48016672",
                            "ensembl_id": "ENSG00000198515"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "CNGA1",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Red"
            ],
            "phenotypes": [
                "Retinitis pigmentosa 49, OMIM:613756"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 509,
                "hash_id": null,
                "name": "Structural eye disease",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "3.79",
                "version_created": "2024-05-02T13:56:09.588782Z",
                "relevant_disorders": [
                    "R36"
                ],
                "stats": {
                    "number_of_genes": 496,
                    "number_of_strs": 0,
                    "number_of_regions": 2
                },
                "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": [
                    "FKH1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3819",
                "gene_name": "forkhead box O1",
                "omim_gene": [
                    "136533"
                ],
                "alias_name": null,
                "gene_symbol": "FOXO1",
                "hgnc_symbol": "FOXO1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "13:41129804-41240734",
                            "ensembl_id": "ENSG00000150907"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "13:40469953-40666597",
                            "ensembl_id": "ENSG00000150907"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-05-02"
            },
            "entity_type": "gene",
            "entity_name": "FOXO1",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "25768946"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Red",
                "Expert Review Red",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Rhabdomyosarcoma, alveolar, OMIM:268220"
            ],
            "mode_of_inheritance": "Other - please specifiy in evaluation comments",
            "tags": [],
            "panel": {
                "id": 734,
                "hash_id": null,
                "name": "Sarcoma susceptibility",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.81",
                "version_created": "2024-03-12T14:45:36.660320Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 44,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "GMS Cancer Germline Virtual",
                        "slug": "gms-cancer-germline-virtual",
                        "description": "This is a panel used for WGS germline analysis for the GMS."
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "UQCR4"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2579",
                "gene_name": "cytochrome c1",
                "omim_gene": [
                    "123980"
                ],
                "alias_name": null,
                "gene_symbol": "CYC1",
                "hgnc_symbol": "CYC1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:145149930-145152428",
                            "ensembl_id": "ENSG00000179091"
                        }
                    },
                    "GRch38": {
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                            "location": "8:144095027-144097525",
                            "ensembl_id": "ENSG00000179091"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1988-07-06"
            },
            "entity_type": "gene",
            "entity_name": "CYC1",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "London North GLH"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 847,
                "hash_id": null,
                "name": "Childhood onset dystonia, chorea or related movement disorder",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "4.3",
                "version_created": "2024-05-04T18:04:13.719440Z",
                "relevant_disorders": [
                    "Childhood onset dystonia or chorea or related movement disorder",
                    "R57"
                ],
                "stats": {
                    "number_of_genes": 976,
                    "number_of_strs": 5,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "HE1",
                    "NP-C2",
                    "EDDM1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14537",
                "gene_name": "NPC intracellular cholesterol transporter 2",
                "omim_gene": [
                    "601015"
                ],
                "alias_name": [
                    "epididymal protein 1"
                ],
                "gene_symbol": "NPC2",
                "hgnc_symbol": "NPC2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:74942895-74960880",
                            "ensembl_id": "ENSG00000119655"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "14:74476192-74494177",
                            "ensembl_id": "ENSG00000119655"
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                    }
                },
                "hgnc_date_symbol_changed": "2001-05-11"
            },
            "entity_type": "gene",
            "entity_name": "NPC2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "30847515"
            ],
            "evidence": [
                "Next Generation Children Project",
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Niemann-pick disease, type C2, 607625"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 921,
                "hash_id": null,
                "name": "Severe Paediatric Disorders",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.184",
                "version_created": "2024-04-09T15:06:23.215649Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 2691,
                    "number_of_strs": 1,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Research",
                        "slug": "research",
                        "description": "This is a gene panel used for research."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "DRG1",
                    "RTP",
                    "TDD5",
                    "NDR1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7679",
                "gene_name": "N-myc downstream regulated 1",
                "omim_gene": [
                    "605262"
                ],
                "alias_name": null,
                "gene_symbol": "NDRG1",
                "hgnc_symbol": "NDRG1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:134249414-134314265",
                            "ensembl_id": "ENSG00000104419"
                        }
                    },
                    "GRch38": {
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                            "location": "8:133237171-133302022",
                            "ensembl_id": "ENSG00000104419"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-12-23"
            },
            "entity_type": "gene",
            "entity_name": "NDRG1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "30847515"
            ],
            "evidence": [
                "Next Generation Children Project",
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Charcot-Marie-Tooth disease, type 4D, 601455"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 921,
                "hash_id": null,
                "name": "Severe Paediatric Disorders",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.184",
                "version_created": "2024-04-09T15:06:23.215649Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 2691,
                    "number_of_strs": 1,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Research",
                        "slug": "research",
                        "description": "This is a gene panel used for research."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "COX3",
                    "COIII",
                    "CO3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7422",
                "gene_name": "mitochondrially encoded cytochrome c oxidase III",
                "omim_gene": [
                    "516050"
                ],
                "alias_name": null,
                "gene_symbol": "MT-CO3",
                "hgnc_symbol": "MT-CO3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "MT:9207-9990",
                            "ensembl_id": "ENSG00000198938"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "MT:9207-9990",
                            "ensembl_id": "ENSG00000198938"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-02-16"
            },
            "entity_type": "gene",
            "entity_name": "MT-CO3",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "30847515"
            ],
            "evidence": [
                "Next Generation Children Project",
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "LEBER OPTIC ATROPHY",
                "SEIZURES AND LACTIC ACIDOSIS",
                "MITOCHONDRIAL COMPLEX IV DEFICIENCY"
            ],
            "mode_of_inheritance": "MITOCHONDRIAL",
            "tags": [],
            "panel": {
                "id": 921,
                "hash_id": null,
                "name": "Severe Paediatric Disorders",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.184",
                "version_created": "2024-04-09T15:06:23.215649Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 2691,
                    "number_of_strs": 1,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Research",
                        "slug": "research",
                        "description": "This is a gene panel used for research."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "GS3",
                    "DNAJA5",
                    "JJJ1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:27030",
                "gene_name": "DnaJ heat shock protein family (Hsp40) member C21",
                "omim_gene": [
                    "617048"
                ],
                "alias_name": [
                    "JJJ1 DnaJ domain protein homolog (S. cerevisiae)"
                ],
                "gene_symbol": "DNAJC21",
                "hgnc_symbol": "DNAJC21",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:34929698-34959069",
                            "ensembl_id": "ENSG00000168724"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:34929593-34958964",
                            "ensembl_id": "ENSG00000168724"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-11-19"
            },
            "entity_type": "gene",
            "entity_name": "DNAJC21",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "30847515"
            ],
            "evidence": [
                "Next Generation Children Project",
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Bone marrow failure syndrome 3, 617052"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 921,
                "hash_id": null,
                "name": "Severe Paediatric Disorders",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.184",
                "version_created": "2024-04-09T15:06:23.215649Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 2691,
                    "number_of_strs": 1,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Research",
                        "slug": "research",
                        "description": "This is a gene panel used for research."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "LCA8"
                ],
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                "hgnc_id": "HGNC:2343",
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