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                "hgnc_id": "HGNC:6307",
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                "omim_gene": [
                    "191306"
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                    "vascular endothelial growth factor receptor 2",
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                "11807987",
                "18931684"
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                "Radboud University Medical Center, Nijmegen"
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                "Hemangioma, capillary infantile, somatic, 602089",
                "{Hemangioma, capillary infantile, susceptibility to}, 602089"
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                    {
                        "name": "Rare Disease 100K",
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                "alias": [
                    "L26"
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                "hgnc_id": "HGNC:10327",
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                "omim_gene": [
                    "603704"
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                "28297620"
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                "Curated sources",
                "Expert Review Green"
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                "Class: BM failure syndrome (typ AR)",
                "Diamond Blackfan Anemia",
                "MDS, AML",
                "Osteosarcoma, soft tissue sarcomas"
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                "id": 407,
                "hash_id": null,
                "name": "Haematological malignancies for rare disease",
                "disease_group": "Tumour syndromes",
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        {
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                "alias": [
                    "RE2"
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                "hgnc_id": "HGNC:23694",
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                    "612250"
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            "penetrance": "Complete",
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                "25322266"
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                "Expert Review Red",
                "Literature",
                "Expert Review"
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                "Short stature with hypopituitarism, intellectual disability, sparse or absent hair in the frontal area, hypotelorism, broad nasal root, thick alae nasi, nail hypoplasia, short fifth finger, 2-3 toe syndactyl. MRI showed hypoplastic pituitary gland, empty sella, ectopic neurohypophysis, and interrupted pituitary stalk"
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        {
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                "alias": [
                    "MGF"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11366",
                "gene_name": "signal transducer and activator of transcription 5A",
                "omim_gene": [
                    "601511"
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                "alias_name": null,
                "gene_symbol": "STAT5A",
                "hgnc_symbol": "STAT5A",
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                            "location": "17:40439565-40463961",
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            "entity_type": "gene",
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                "26541527",
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                "Expert Review Red",
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                "Defects with susceptibility to mycobacterial infection (MSMD)",
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                "Chronic active EBV, lymphoproliferation, combined immunodeficiency, impaired t cell function",
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                "Epstein-Barr virus infection and neoplasia (XMEN)",
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                "biotype": "protein_coding",
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                "omim_gene": [
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                "alias_name": [
                    "T-cell immunoglobulin mucin family member 1",
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                            "location": "5:156456424-156486130",
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        {
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            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "DKFZP564J0863"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:24526",
                "gene_name": "atlastin GTPase 3",
                "omim_gene": [
                    "609369"
                ],
                "alias_name": null,
                "gene_symbol": "ATL3",
                "hgnc_symbol": "ATL3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:63391559-63439393",
                            "ensembl_id": "ENSG00000184743"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "11:63624087-63671921",
                            "ensembl_id": "ENSG00000184743"
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                    }
                },
                "hgnc_date_symbol_changed": "2008-09-17"
            },
            "entity_type": "gene",
            "entity_name": "ATL3",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "24736309",
                "24459106"
            ],
            "evidence": [
                "Expert Review Red",
                "NHS GMS",
                "London North GLH",
                "Wessex and West Midlands GLH"
            ],
            "phenotypes": [
                "Neuropathy, hereditary sensory, type IF, 615632",
                "HSN1F"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 541,
                "hash_id": null,
                "name": "Paroxysmal central nervous system disorders",
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                "disease_sub_group": "",
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                "version_created": "2023-10-26T11:01:42.408563Z",
                "relevant_disorders": [
                    "Paroxysmal neurological disorders",
                    "pain disorders and sleep disorders",
                    "R66"
                ],
                "stats": {
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                    "number_of_strs": 5,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "VAMP-2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12643",
                "gene_name": "vesicle associated membrane protein 2",
                "omim_gene": [
                    "185881"
                ],
                "alias_name": null,
                "gene_symbol": "VAMP2",
                "hgnc_symbol": "VAMP2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:8062467-8066864",
                            "ensembl_id": "ENSG00000220205"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "17:8159149-8163546",
                            "ensembl_id": "ENSG00000220205"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1990-03-14"
            },
            "entity_type": "gene",
            "entity_name": "VAMP2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "30929742"
            ],
            "evidence": [
                "NHS GMS",
                "London North GLH",
                "Expert Review Green"
            ],
            "phenotypes": [
                "axial hypotonia",
                "intellectual disability",
                "autistic features",
                "central visual impairment",
                "hyperkinetic movement disorder",
                "epilepsy or electroencephalography abnormalities"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 541,
                "hash_id": null,
                "name": "Paroxysmal central nervous system disorders",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "3.10",
                "version_created": "2023-10-26T11:01:42.408563Z",
                "relevant_disorders": [
                    "Paroxysmal neurological disorders",
                    "pain disorders and sleep disorders",
                    "R66"
                ],
                "stats": {
                    "number_of_genes": 86,
                    "number_of_strs": 5,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "DKFZp434A2417",
                    "KIAA1996"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:23338",
                "gene_name": "acyl-CoA binding domain containing 5",
                "omim_gene": [
                    "616618"
                ],
                "alias_name": null,
                "gene_symbol": "ACBD5",
                "hgnc_symbol": "ACBD5",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:27484146-27531059",
                            "ensembl_id": "ENSG00000107897"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "10:27195214-27242130",
                            "ensembl_id": "ENSG00000107897"
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                    }
                },
                "hgnc_date_symbol_changed": "2003-11-11"
            },
            "entity_type": "gene",
            "entity_name": "ACBD5",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "23105016",
                "27899449",
                "27799409",
                "33427402"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Retinal dystrophy with leukodystrophy, OMIM:618863"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 42,
                "hash_id": "568f920822c1fc1c79ca177a",
                "name": "Inherited white matter disorders",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "White matter disorders",
                "status": "public",
                "version": "1.180",
                "version_created": "2024-04-09T15:06:23.410873Z",
                "relevant_disorders": [
                    "Leukodystrophy - adult onset"
                ],
                "stats": {
                    "number_of_genes": 174,
                    "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": [
                    "MFH-1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3801",
                "gene_name": "forkhead box C2",
                "omim_gene": [
                    "602402"
                ],
                "alias_name": [
                    "mesenchyme forkhead 1"
                ],
                "gene_symbol": "FOXC2",
                "hgnc_symbol": "FOXC2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:86600857-86602539",
                            "ensembl_id": "ENSG00000176692"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:86567251-86569728",
                            "ensembl_id": "ENSG00000176692"
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                    }
                },
                "hgnc_date_symbol_changed": "1997-02-14"
            },
            "entity_type": "gene",
            "entity_name": "FOXC2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "11078474"
            ],
            "evidence": [
                "Expert Review Green",
                "London North GLH",
                "NHS GMS"
            ],
            "phenotypes": [
                "Lymphoedema-distichiasis syndrome, OMIM:153400"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [
                "Q1_24_demote_red",
                "Q1_24_expert_review"
            ],
            "panel": {
                "id": 563,
                "hash_id": null,
                "name": "Vascular skin disorders",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.63",
                "version_created": "2024-03-25T15:56:37.206898Z",
                "relevant_disorders": [
                    "R326"
                ],
                "stats": {
                    "number_of_genes": 37,
                    "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": [
                    "C/EBP-alpha"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1833",
                "gene_name": "CCAAT/enhancer binding protein alpha",
                "omim_gene": [
                    "116897"
                ],
                "alias_name": null,
                "gene_symbol": "CEBPA",
                "hgnc_symbol": "CEBPA",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:33790840-33793470",
                            "ensembl_id": "ENSG00000245848"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:33299934-33302564",
                            "ensembl_id": "ENSG00000245848"
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                    }
                },
                "hgnc_date_symbol_changed": "1991-11-27"
            },
            "entity_type": "gene",
            "entity_name": "CEBPA",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "27881370",
                "28297620"
            ],
            "evidence": [
                "Expert Review Green",
                "Curated sources"
            ],
            "phenotypes": [
                "Class: familial predisp to leukaemia (typ AD)",
                "Familial AML with mutated CEBPA",
                "AML",
                "No other known cancer risks"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
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                "hash_id": "594a71908f620375d17ea6b2",
                "name": "Haematological malignancies cancer susceptibility",
                "disease_group": "Cancer Programme",
                "disease_sub_group": "Pertinent cancer susceptibility gene panel",
                "status": "public",
                "version": "4.5",
                "version_created": "2024-04-26T11:11:17.991922Z",
                "relevant_disorders": [
                    "Haemonc",
                    "Haematological malignancies pertinent cancer susceptibility"
                ],
                "stats": {
                    "number_of_genes": 108,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Cancer Germline 100K",
                        "slug": "cancer-germline-100k",
                        "description": "Cancer Germline 100K"
                    },
                    {
                        "name": "GMS Cancer Germline Virtual",
                        "slug": "gms-cancer-germline-virtual",
                        "description": "This is a panel used for WGS germline analysis for the GMS."
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "ALK-5",
                    "ACVRLK4",
                    "ALK5"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11772",
                "gene_name": "transforming growth factor beta receptor 1",
                "omim_gene": [
                    "190181"
                ],
                "alias_name": [
                    "activin A receptor type II-like kinase, 53kDa"
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                "gene_symbol": "TGFBR1",
                "hgnc_symbol": "TGFBR1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                        "82": {
                            "location": "9:101866320-101916474",
                            "ensembl_id": "ENSG00000106799"
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                    },
                    "GRch38": {
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                            "location": "9:99104038-99154192",
                            "ensembl_id": "ENSG00000106799"
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                    }
                },
                "hgnc_date_symbol_changed": "1993-09-30"
            },
            "entity_type": "gene",
            "entity_name": "TGFBR1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "16928994",
                "16791849",
                "26888179"
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            "evidence": [
                "North West GLH",
                "South West GLH",
                "London South GLH",
                "Expert Review Green",
                "South West GLH",
                "London South GLH",
                "North West GLH"
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            "phenotypes": [
                "Loeys Dietz syndrome, type 2A, 608967",
                "Loeys-Dietz syndrome",
                "Loeys Dietz syndrome, type 1A, 609192",
                "Loeys Dietz syndrome, type 1A (609192)"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
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            "panel": {
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                "hash_id": null,
                "name": "Thoracic aortic aneurysm or dissection (GMS)",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "3.11",
                "version_created": "2024-04-10T17:56:14.551936Z",
                "relevant_disorders": [
                    "Thoracic aortic aneurysm and dissection",
                    "R125"
                ],
                "stats": {
                    "number_of_genes": 70,
                    "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": [
                    "LGMD2K"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9202",
                "gene_name": "protein O-mannosyltransferase 1",
                "omim_gene": [
                    "607423"
                ],
                "alias_name": [
                    "dolichyl-phosphate-mannose-protein mannosyltransferase"
                ],
                "gene_symbol": "POMT1",
                "hgnc_symbol": "POMT1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "9:134378289-134399193",
                            "ensembl_id": "ENSG00000130714"
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                    },
                    "GRch38": {
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                            "location": "9:131502902-131523806",
                            "ensembl_id": "ENSG00000130714"
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                    }
                },
                "hgnc_date_symbol_changed": "1999-06-25"
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            "entity_type": "gene",
            "entity_name": "POMT1",
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            "penetrance": "Complete",
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                "London South GLH",
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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                "version_created": "2024-05-01T12:39:55.776752Z",
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                        "name": "Rare Disease 100K",
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                        "description": "Rare Disease 100K"
                    },
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    },
                    {
                        "name": "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": [
                    "DKFZp762G094",
                    "FLJ22028"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26162",
                "gene_name": "pyridine nucleotide-disulphide oxidoreductase domain 1",
                "omim_gene": [
                    "617220"
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                "alias_name": null,
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                "hgnc_symbol": "PYROXD1",
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                "ensembl_genes": {
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                    },
                    "GRch38": {
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                            "location": "12:21437615-21471252",
                            "ensembl_id": "ENSG00000121350"
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                "hgnc_date_symbol_changed": "2007-08-02"
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            "entity_type": "gene",
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            "mode_of_pathogenicity": null,
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                "Expert Review Green",
                "Expert Review"
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                "version_created": "2024-05-01T12:40:40.241726Z",
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                        "description": "Rare Disease 100K"
                    },
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    },
                    {
                        "name": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
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                    "SRA1"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11204",
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                "omim_gene": [
                    "608160"
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                "gene_symbol": "SOX9",
                "hgnc_symbol": "SOX9",
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                "ensembl_genes": {
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                            "location": "17:70117161-70122561",
                            "ensembl_id": "ENSG00000125398"
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                    },
                    "GRch38": {
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                "Illumina TruGenome Clinical Sequencing Services",
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                    {
                        "name": "GMS Rare Disease Virtual",
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                "biotype": "protein_coding",
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                "hgnc_symbol": "DNAH8",
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                "hgnc_date_symbol_changed": "1995-11-15"
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            "panel": {
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        {
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                    {
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        {
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                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
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                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21645",
                "gene_name": "coiled-coil-helix-coiled-coil-helix domain containing 2",
                "omim_gene": [
                    "616244"
                ],
                "alias_name": null,
                "gene_symbol": "CHCHD2",
                "hgnc_symbol": "CHCHD2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:56169262-56174269",
                            "ensembl_id": "ENSG00000106153"
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                    },
                    "GRch38": {
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                            "location": "7:56101569-56106576",
                            "ensembl_id": "ENSG00000106153"
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                    }
                },
                "hgnc_date_symbol_changed": "2004-01-21"
            },
            "entity_type": "gene",
            "entity_name": "CHCHD2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "25662902",
                "26067114",
                "26705026",
                "26067110",
                "35786718"
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            "evidence": [
                "Expert Review Green",
                "Wessex and West Midlands GLH",
                "Yorkshire and North East GLH",
                "London North GLH",
                "NHS GMS",
                "South West GLH"
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            "phenotypes": [
                "Parkinson disease 22, autosomal dominant, OMIM:616710"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 474,
                "hash_id": null,
                "name": "Adult onset neurodegenerative disorder",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "5.1",
                "version_created": "2024-05-01T12:30:04.775082Z",
                "relevant_disorders": [
                    "Neurodegenerative disorders - adult onset",
                    "R58"
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                "stats": {
                    "number_of_genes": 414,
                    "number_of_strs": 16,
                    "number_of_regions": 4
                },
                "types": [
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "KIAA0436"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:30228",
                "gene_name": "prolyl endopeptidase-like",
                "omim_gene": [
                    "609557"
                ],
                "alias_name": null,
                "gene_symbol": "PREPL",
                "hgnc_symbol": "PREPL",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:44543420-44589001",
                            "ensembl_id": "ENSG00000138078"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:44316281-44361862",
                            "ensembl_id": "ENSG00000138078"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-02-25"
            },
            "entity_type": "gene",
            "entity_name": "PREPL",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "27604308"
            ],
            "evidence": [
                "Expert Review Red",
                "Literature"
            ],
            "phenotypes": [
                "Hypotonia-cystinuria syndrome (Disorders of amino acid transport)",
                "Hypotonia-cystinuria syndrome 606407"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "deletions"
            ],
            "panel": {
                "id": 302,
                "hash_id": "5763f1518f620350a22bccdb",
                "name": "Undiagnosed metabolic disorders",
                "disease_group": "Metabolic disorders",
                "disease_sub_group": "Specific metabolic abnormalities",
                "status": "public",
                "version": "1.617",
                "version_created": "2024-04-16T14:22:42.770171Z",
                "relevant_disorders": [
                    "Undiagnosed Metabolic Panel"
                ],
                "stats": {
                    "number_of_genes": 752,
                    "number_of_strs": 1,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "KIAA0028",
                    "LEURS",
                    "MGC26121",
                    "mtLeuRS"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17095",
                "gene_name": "leucyl-tRNA synthetase 2, mitochondrial",
                "omim_gene": [
                    "604544"
                ],
                "alias_name": [
                    "leucine tRNA ligase 2, mitochondrial"
                ],
                "gene_symbol": "LARS2",
                "hgnc_symbol": "LARS2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:45429998-45590913",
                            "ensembl_id": "ENSG00000011376"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "3:45388506-45549421",
                            "ensembl_id": "ENSG00000011376"
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                    }
                },
                "hgnc_date_symbol_changed": "2003-09-01"
            },
            "entity_type": "gene",
            "entity_name": "LARS2",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "27604308"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Perrault syndrome 4, OMIM:615300",
                "Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021",
                "Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)",
                "Multiple respiratory chain complex deficiencies (disorders of protein synthesis"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 302,
                "hash_id": "5763f1518f620350a22bccdb",
                "name": "Undiagnosed metabolic disorders",
                "disease_group": "Metabolic disorders",
                "disease_sub_group": "Specific metabolic abnormalities",
                "status": "public",
                "version": "1.617",
                "version_created": "2024-04-16T14:22:42.770171Z",
                "relevant_disorders": [
                    "Undiagnosed Metabolic Panel"
                ],
                "stats": {
                    "number_of_genes": 752,
                    "number_of_strs": 1,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
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                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "GLOD2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:16732",
                "gene_name": "methylmalonyl-CoA epimerase",
                "omim_gene": [
                    "608419"
                ],
                "alias_name": [
                    "glyoxalase domain containing 2"
                ],
                "gene_symbol": "MCEE",
                "hgnc_symbol": "MCEE",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:71336814-71357369",
                            "ensembl_id": "ENSG00000124370"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:71109684-71130239",
                            "ensembl_id": "ENSG00000124370"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-10-03"
            },
            "entity_type": "gene",
            "entity_name": "MCEE",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "27604308"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Methylmalonyl-CoA epimerase deficiency (Organic acidurias)",
                "Methylmalonyl-CoA epimerase deficiency",
                "metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 467,
                "hash_id": null,
                "name": "Likely inborn error of metabolism - targeted testing not possible",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "5.1",
                "version_created": "2024-05-01T12:27:38.187894Z",
                "relevant_disorders": [
                    "Likely inborn error of metabolism - targeted testing not possible",
                    "Likely inborn error of metabolism",
                    "Inborn errors of metabolism",
                    "R98"
                ],
                "stats": {
                    "number_of_genes": 934,
                    "number_of_strs": 3,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    },
                    {
                        "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": [
                    "MCT",
                    "MCT1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10922",
                "gene_name": "solute carrier family 16 member 1",
                "omim_gene": [
                    "600682"
                ],
                "alias_name": null,
                "gene_symbol": "SLC16A1",
                "hgnc_symbol": "SLC16A1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:113454469-113499635",
                            "ensembl_id": "ENSG00000155380"
                        }
                    },
                    "GRch38": {
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                            "location": "1:112911847-112957013",
                            "ensembl_id": "ENSG00000155380"
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                    }
                },
                "hgnc_date_symbol_changed": "1994-02-16"
            },
            "entity_type": "gene",
            "entity_name": "SLC16A1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "26608392",
                "17701893"
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            "evidence": [
                "Expert Review Green"
            ],
            "phenotypes": [
                "Erythrocyte lactate transporter defect, OMIM:245340",
                "Hyperinsulinemic hypoglycemia, familial, 7, OMIM:610021",
                "Monocarboxylate transporter 1 deficiency, OMIM:616095"
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            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 467,
                "hash_id": null,
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                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "5.1",
                "version_created": "2024-05-01T12:27:38.187894Z",
                "relevant_disorders": [
                    "Likely inborn error of metabolism - targeted testing not possible",
                    "Likely inborn error of metabolism",
                    "Inborn errors of metabolism",
                    "R98"
                ],
                "stats": {
                    "number_of_genes": 934,
                    "number_of_strs": 3,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    },
                    {
                        "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
        },
        {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7685",
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                "omim_gene": [
                    "602137"
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                "alias_name": [
                    "complex I B8 subunit"
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                "gene_symbol": "NDUFA2",
                "hgnc_symbol": "NDUFA2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "5:140018325-140027370",
                            "ensembl_id": "ENSG00000131495"
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                    },
                    "GRch38": {
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                "hgnc_date_symbol_changed": "1996-08-30"
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            "entity_type": "gene",
            "entity_name": "NDUFA2",
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            "publications": [
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                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
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            "phenotypes": [
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                "Isolated complex I deficiency",
                "Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)",
                "Mitochondrial Respiratory Chain Complex I Deficiency"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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            "panel": {
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                    "Likely inborn error of metabolism - targeted testing not possible",
                    "Likely inborn error of metabolism",
                    "Inborn errors of metabolism",
                    "R98"
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                "stats": {
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                    "number_of_strs": 3,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
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                    {
                        "name": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "STA",
                    "LEMD5"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3331",
                "gene_name": "emerin",
                "omim_gene": [
                    "300384"
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                "alias_name": [
                    "LEM domain containing 5"
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                "gene_symbol": "EMD",
                "hgnc_symbol": "EMD",
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                "ensembl_genes": {
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                            "location": "X:153607557-153609883",
                            "ensembl_id": "ENSG00000102119"
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                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "EMD",
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            "evidence": [
                "Expert Review Green",
                "NHS GMS"
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            "phenotypes": [],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "tags": [],
            "panel": {
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                "hash_id": null,
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                "disease_group": "Cardiovascular disorders",
                "disease_sub_group": "Cardiomyopathy",
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                "version_created": "2024-05-01T12:27:44.623418Z",
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                    "R132"
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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": "Component Of Super Panel",
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                        "description": "This panel is a component of a Super Panel"
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                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
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                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6482",
                "gene_name": "laminin subunit alpha 2",
                "omim_gene": [
                    "156225"
                ],
                "alias_name": [
                    "merosin",
                    "congenital muscular dystrophy"
                ],
                "gene_symbol": "LAMA2",
                "hgnc_symbol": "LAMA2",
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                "hgnc_date_symbol_changed": "1992-05-06"
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            "entity_type": "gene",
            "entity_name": "LAMA2",
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            "publications": [],
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                "Expert Review Green"
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            "panel": {
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                "hash_id": null,
                "name": "Fetal anomalies",
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                    "Fetal anomalies with a likely genetic cause - non urgent",
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                        "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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                        "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": [
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                    "DEP.5"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:18423",
                "gene_name": "DEP domain containing 5",
                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "DEPDC5",
                "hgnc_symbol": "DEPDC5",
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                "ensembl_genes": {
                    "GRch37": {
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                            "location": "22:32149944-32303012",
                            "ensembl_id": "ENSG00000100150"
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                    "GRch38": {
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                },
                "hgnc_date_symbol_changed": "2004-05-05"
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            "entity_type": "gene",
            "entity_name": "DEPDC5",
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                "Expert Review Amber",
                "PAGE DD-Gene2Phenotype"
            ],
            "phenotypes": [
                "Epilepsy",
                "Structural brain malformations"
            ],
            "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": [
                    "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": {
                        "90": {
                            "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",
                "PAGE DD-Gene2Phenotype"
            ],
            "phenotypes": [
                "MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6"
            ],
            "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:28983",
                "gene_name": "transmembrane protein 94",
                "omim_gene": null,
                "alias_name": null,
                "gene_symbol": "TMEM94",
                "hgnc_symbol": "TMEM94",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:73437240-73496171",
                            "ensembl_id": "ENSG00000177728"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:75441159-75500090",
                            "ensembl_id": "ENSG00000177728"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2015-10-07"
            },
            "entity_type": "gene",
            "entity_name": "TMEM94",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "PMID: 30526868"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert Review",
                "Literature"
            ],
            "phenotypes": [
                "Intellectual developmental disorder with cardiac defects and dysmorphic facies, OMIM:618316"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "gene-checked"
            ],
            "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": [
                    "EMAPII",
                    "EMAP-2",
                    "p43"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10648",
                "gene_name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 1",
                "omim_gene": [
                    "603605"
                ],
                "alias_name": [
                    "EMAP II",
                    "ARS-interacting multifunctional protein 1"
                ],
                "gene_symbol": "AIMP1",
                "hgnc_symbol": "AIMP1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:107236701-107270383",
                            "ensembl_id": "ENSG00000164022"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:106315544-106349226",
                            "ensembl_id": "ENSG00000164022"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2009-05-20"
            },
            "entity_type": "gene",
            "entity_name": "AIMP1",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Amber",
                "PAGE DD-Gene2Phenotype"
            ],
            "phenotypes": [
                "LEUKODYSTROPHY, HYPOMYELINATING, 3"
            ],
            "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:6143",
                "gene_name": "integrin subunit alpha 7",
                "omim_gene": [
                    "600536"
                ],
                "alias_name": null,
                "gene_symbol": "ITGA7",
                "hgnc_symbol": "ITGA7",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:56078352-56109827",
                            "ensembl_id": "ENSG00000135424"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:55684568-55716043",
                            "ensembl_id": "ENSG00000135424"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-02-27"
            },
            "entity_type": "gene",
            "entity_name": "ITGA7",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "9590299"
            ],
            "evidence": [
                "Expert Review Red",
                "PAGE DD-Gene2Phenotype"
            ],
            "phenotypes": [
                "CONGENITAL MUSCULAR DYSTROPHY"
            ],
            "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": [
                    "AIP4"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13890",
                "gene_name": "itchy E3 ubiquitin protein ligase",
                "omim_gene": [
                    "606409"
                ],
                "alias_name": null,
                "gene_symbol": "ITCH",
                "hgnc_symbol": "ITCH",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "20:32951041-33099198",
                            "ensembl_id": "ENSG00000078747"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "20:34363235-34511393",
                            "ensembl_id": "ENSG00000078747"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-04-27"
            },
            "entity_type": "gene",
            "entity_name": "ITCH",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Amber",
                "PAGE DD-Gene2Phenotype"
            ],
            "phenotypes": [
                "AUTOIMMUNE DISEASE, SYNDROMIC MULTISYSTEM"
            ],
            "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": [
                    "FLJ21439"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11226",
                "gene_name": "SPG11, spatacsin vesicle trafficking associated",
                "omim_gene": [
                    "610844"
                ],
                "alias_name": [
                    "spatacsin"
                ],
                "gene_symbol": "SPG11",
                "hgnc_symbol": "SPG11",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:44854894-44955876",
                            "ensembl_id": "ENSG00000104133"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:44562696-44663678",
                            "ensembl_id": "ENSG00000104133"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-10-08"
            },
            "entity_type": "gene",
            "entity_name": "SPG11",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "PAGE DD-Gene2Phenotype",
                "Expert Review Green"
            ],
            "phenotypes": [
                "SPASTIC PARAPLEGIA-11"
            ],
            "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": [
                    "LERK2",
                    "Elk-L"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3226",
                "gene_name": "ephrin B1",
                "omim_gene": [
                    "300035"
                ],
                "alias_name": null,
                "gene_symbol": "EFNB1",
                "hgnc_symbol": "EFNB1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:68048840-68061990",
                            "ensembl_id": "ENSG00000090776"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:68828997-68842147",
                            "ensembl_id": "ENSG00000090776"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-01-17"
            },
            "entity_type": "gene",
            "entity_name": "EFNB1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "Other - please provide details in the comments",
            "publications": [
                "15166289",
                "23335590",
                "15124102"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Eligibility statement prior genetic testing",
                "Expert list"
            ],
            "phenotypes": [
                "Craniofrontonasal dysplasia, OMIM:304110"
            ],
            "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": [
                "x-linked-over-dominance"
            ],
            "panel": {
                "id": 168,
                "hash_id": "55b605f722c1fc05fd2345af",
                "name": "Rare syndromic craniosynostosis or isolated multisuture synostosis",
                "disease_group": "Skeletal disorders",
                "disease_sub_group": "Craniosynostosis syndromes",
                "status": "public",
                "version": "5.1",
                "version_created": "2024-05-01T12:43:23.309307Z",
                "relevant_disorders": [
                    "Craniosynostosis syndromes",
                    "Craniosynostosis syndromes phenotypes",
                    "Rare syndromic craniosynostosis or isolated multisuture synostosis",
                    "Craniosynostosis",
                    "R100"
                ],
                "stats": {
                    "number_of_genes": 197,
                    "number_of_strs": 0,
                    "number_of_regions": 2
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "HANK",
                    "ANK",
                    "CPPDD"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:15492",
                "gene_name": "ANKH inorganic pyrophosphate transport regulator",
                "omim_gene": [
                    "605145"
                ],
                "alias_name": null,
                "gene_symbol": "ANKH",
                "hgnc_symbol": "ANKH",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:14704910-14871887",
                            "ensembl_id": "ENSG00000154122"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:14704804-14871778",
                            "ensembl_id": "ENSG00000154122"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-04-05"
            },
            "entity_type": "gene",
            "entity_name": "ANKH",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "36118902",
                "36980886"
            ],
            "evidence": [
                "Expert Review Amber",
                "Literature"
            ],
            "phenotypes": [
                "Craniometaphyseal dysplasia, OMIM:123000",
                "craniosynostosis, MONDO:0015469"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 168,
                "hash_id": "55b605f722c1fc05fd2345af",
                "name": "Rare syndromic craniosynostosis or isolated multisuture synostosis",
                "disease_group": "Skeletal disorders",
                "disease_sub_group": "Craniosynostosis syndromes",
                "status": "public",
                "version": "5.1",
                "version_created": "2024-05-01T12:43:23.309307Z",
                "relevant_disorders": [
                    "Craniosynostosis syndromes",
                    "Craniosynostosis syndromes phenotypes",
                    "Rare syndromic craniosynostosis or isolated multisuture synostosis",
                    "Craniosynostosis",
                    "R100"
                ],
                "stats": {
                    "number_of_genes": 197,
                    "number_of_strs": 0,
                    "number_of_regions": 2
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    }
                ]
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "SERS"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10537",
                "gene_name": "seryl-tRNA synthetase",
                "omim_gene": [
                    "607529"
                ],
                "alias_name": [
                    "serine tRNA ligase 1, cytoplasmic"
                ],
                "gene_symbol": "SARS",
                "hgnc_symbol": "SARS",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:109756540-109780791",
                            "ensembl_id": "ENSG00000031698"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:109213918-109238169",
                            "ensembl_id": "ENSG00000031698"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-06-09"
            },
            "entity_type": "gene",
            "entity_name": "SARS",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "Other",
            "publications": [
                "28236339",
                "34570399",
                "36041817"
            ],
            "evidence": [
                "DD-Gene2Phenotype",
                "Expert Review Green"
            ],
            "phenotypes": [
                "SARS1-related neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709",
                "Autosomal dominant SARS1-related neurodevelopmental disorder"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "new-gene-name"
            ],
            "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": {
                    "number_of_genes": 2349,
                    "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": [
                    "PKU-ALPHA",
                    "MGC44450"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11842",
                "gene_name": "tousled like kinase 2",
                "omim_gene": [
                    "608439"
                ],
                "alias_name": null,
                "gene_symbol": "TLK2",
                "hgnc_symbol": "TLK2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:60536019-60692842",
                            "ensembl_id": "ENSG00000146872"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:62458658-62615481",
                            "ensembl_id": "ENSG00000146872"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-01-07"
            },
            "entity_type": "gene",
            "entity_name": "TLK2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "27479843",
                "29861108"
            ],
            "evidence": [
                "Expert Review Green",
                "DD-Gene2Phenotype"
            ],
            "phenotypes": [
                "TLK2 syndrome"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "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": {
                    "number_of_genes": 2349,
                    "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": [
                    "FLJ20061",
                    "IPT"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:20286",
                "gene_name": "tRNA isopentenyltransferase 1",
                "omim_gene": null,
                "alias_name": null,
                "gene_symbol": "TRIT1",
                "hgnc_symbol": "TRIT1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:40306723-40349183",
                            "ensembl_id": "ENSG00000043514"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:39841022-39883511",
                            "ensembl_id": "ENSG00000043514"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-01-15"
            },
            "entity_type": "gene",
            "entity_name": "TRIT1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "Other - please provide details in the comments",
            "publications": [
                "32088416",
                "28185376",
                "32948376",
                "31140736",
                "24901367"
            ],
            "evidence": [
                "Expert Review Green",
                "DD-Gene2Phenotype"
            ],
            "phenotypes": [
                "tRNA isopentenyltransferase deficiency"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "gene-checked"
            ],
            "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": {
                    "number_of_genes": 2349,
                    "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": [
                    "DBA",
                    "S19"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10402",
                "gene_name": "ribosomal protein S19",
                "omim_gene": [
                    "603474"
                ],
                "alias_name": [
                    "Diamond-Blackfan anemia"
                ],
                "gene_symbol": "RPS19",
                "hgnc_symbol": "RPS19",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:42363988-42376994",
                            "ensembl_id": "ENSG00000105372"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:41859918-41872926",
                            "ensembl_id": "ENSG00000105372"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-07-22"
            },
            "entity_type": "gene",
            "entity_name": "RPS19",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "DD-Gene2Phenotype",
                "Expert Review Green"
            ],
            "phenotypes": [
                "RPS19-RELATED DIAMOND-BLACKFAN ANEMIA 220176"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "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": {
                    "number_of_genes": 2349,
                    "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": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2076",
                "gene_name": "CLN5, intracellular trafficking protein",
                "omim_gene": [
                    "608102"
                ],
                "alias_name": null,
                "gene_symbol": "CLN5",
                "hgnc_symbol": "CLN5",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "13:77564795-77576652",
                            "ensembl_id": "ENSG00000102805"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "13:76990660-77019143",
                            "ensembl_id": "ENSG00000102805"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-11-03"
            },
            "entity_type": "gene",
            "entity_name": "CLN5",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "9662406",
                "18684116",
                "15728307",
                "20157158"
            ],
            "evidence": [
                "DD-Gene2Phenotype",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Ceroid lipofuscinosis, neuronal, 5 OMIM:256731",
                "neuronal ceroid lipofuscinosis 5 MONDO:0009745"
            ],
            "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": {
                    "number_of_genes": 2349,
                    "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": [
                    "Sm-E"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11161",
                "gene_name": "small nuclear ribonucleoprotein polypeptide E",
                "omim_gene": [
                    "128260"
                ],
                "alias_name": null,
                "gene_symbol": "SNRPE",
                "hgnc_symbol": "SNRPE",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:203830731-203839678",
                            "ensembl_id": "ENSG00000182004"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:203861603-203870550",
                            "ensembl_id": "ENSG00000182004"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1988-11-28"
            },
            "entity_type": "gene",
            "entity_name": "SNRPE",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "Other",
            "publications": [
                "36814386",
                "23246290",
                "9621144"
            ],
            "evidence": [
                "Expert Review Green",
                "DD-Gene2Phenotype"
            ],
            "phenotypes": [
                "AUTOSOMAL-DOMINANT HYPOTRICHOSIS SIMPLEX 615059"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "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": {
                    "number_of_genes": 2349,
                    "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": [
                    "FLJ35794"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26661",
                "gene_name": "ring finger protein 168",
                "omim_gene": [
                    "612688"
                ],
                "alias_name": null,
                "gene_symbol": "RNF168",
                "hgnc_symbol": "RNF168",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:196195654-196230639",
                            "ensembl_id": "ENSG00000163961"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:196468783-196503768",
                            "ensembl_id": "ENSG00000163961"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-01-25"
            },
            "entity_type": "gene",
            "entity_name": "RNF168",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "DD-Gene2Phenotype",
                "Expert Review Red"
            ],
            "phenotypes": [
                "RIDDLE SYNDROME 611943"
            ],
            "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": {
                    "number_of_genes": 2349,
                    "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": [
                    "KIAA1035",
                    "Nna1",
                    "CCP1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17258",
                "gene_name": "ATP/GTP binding protein 1",
                "omim_gene": [
                    "606830"
                ],
                "alias_name": [
                    "cytosolic carboxypeptidase 1",
                    "tubulinyl-Tyr carboxypeptidase",
                    "carboxypeptidase-tubulin",
                    "tyrosine carboxypeptidase",
                    "soluble carboxypeptidase"
                ],
                "gene_symbol": "AGTPBP1",
                "hgnc_symbol": "AGTPBP1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:88161455-88356944",
                            "ensembl_id": "ENSG00000135049"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:85546539-85742029",
                            "ensembl_id": "ENSG00000135049"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-03-27"
            },
            "entity_type": "gene",
            "entity_name": "AGTPBP1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "30420557",
                "30976113",
                "31102495",
                "28600779"
            ],
            "evidence": [
                "DD-Gene2Phenotype",
                "Expert Review Green"
            ],
            "phenotypes": [
                "NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY, OMIM:618276"
            ],
            "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": {
                    "number_of_genes": 2349,
                    "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": [
                    "CMG1",
                    "CMG-1",
                    "FLJ22621"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21424",
                "gene_name": "intraflagellar transport 74",
                "omim_gene": [
                    "608040"
                ],
                "alias_name": [
                    "capillary morphogenesis protein 1"
                ],
                "gene_symbol": "IFT74",
                "hgnc_symbol": "IFT74",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:26947037-27062928",
                            "ensembl_id": "ENSG00000096872"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:26947039-27062930",
                            "ensembl_id": "ENSG00000096872"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-11-02"
            },
            "entity_type": "gene",
            "entity_name": "IFT74",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "27486776",
                "33748949",
                "32144365",
                "33531668"
            ],
            "evidence": [
                "DD-Gene2Phenotype",
                "Expert Review Green"
            ],
            "phenotypes": [
                "IFT74-associated ciliopathy, OMIM:617119"
            ],
            "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": {
                    "number_of_genes": 2349,
                    "number_of_strs": 1,
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                },
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                "disease_group": "Neurology and neurodevelopmental disorders",
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                "version": "6.9",
                "version_created": "2024-05-02T13:20:33.072816Z",
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                    "Coarse facial features including Coffin-Siris-like disorders",
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                    "Moderate",
                    "severe or profound intellectual disability",
                    "Schizophrenia plus additional features",
                    "Intellectual disability - microarray",
                    "fragile X and sequencing",
                    "Intellectual disability - microarray and sequencing",
                    "R29"
                ],
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                    "number_of_strs": 12,
                    "number_of_regions": 65
                },
                "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:11273",
                "gene_name": "spectrin alpha, non-erythrocytic 1",
                "omim_gene": [
                    "182810"
                ],
                "alias_name": [
                    "alpha-fodrin"
                ],
                "gene_symbol": "SPTAN1",
                "hgnc_symbol": "SPTAN1",
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                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:131314866-131395941",
                            "ensembl_id": "ENSG00000197694"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:128552558-128633662",
                            "ensembl_id": "ENSG00000197694"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "SPTAN1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "36331550",
                "20493457",
                "22258530",
                "24896178"
            ],
            "evidence": [
                "Victorian Clinical Genetics Services",
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Developmental and epileptic encephalopathy 5, OMIM:613477",
                "developmental and epileptic encephalopathy, 5, MONDO:0013277"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 285,
                "hash_id": "558aa423bb5a16630e15b63c",
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                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Neurodevelopmental disorders",
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                    "Coarse facial features including Coffin-Siris-like disorders",
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                    "Moderate",
                    "severe or profound intellectual disability",
                    "Schizophrenia plus additional features",
                    "Intellectual disability - microarray",
                    "fragile X and sequencing",
                    "Intellectual disability - microarray and sequencing",
                    "R29"
                ],
                "stats": {
                    "number_of_genes": 2686,
                    "number_of_strs": 12,
                    "number_of_regions": 65
                },
                "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": [
                    "FLJ23251"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:23230",
                "gene_name": "ubiquitin like modifier activating enzyme 5",
                "omim_gene": [
                    "610552"
                ],
                "alias_name": [
                    "UBA5, ubiquitin-activating enzyme E1 homolog (yeast)"
                ],
                "gene_symbol": "UBA5",
                "hgnc_symbol": "UBA5",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:132373290-132396941",
                            "ensembl_id": "ENSG00000081307"
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                    "GRch38": {
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                            "location": "3:132654446-132678097",
                            "ensembl_id": "ENSG00000081307"
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                },
                "hgnc_date_symbol_changed": "2007-11-30"
            },
            "entity_type": "gene",
            "entity_name": "UBA5",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "25529582",
                "27545674",
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            ],
            "evidence": [
                "Victorian Clinical Genetics Services",
                "Expert Review Green",
                "Expert Review Green",
                "BRIDGE study SPEED NEURO Tier1 Gene"
            ],
            "phenotypes": [
                "Epileptic encephalopathy, early infantile, 44, 617132",
                "Intellectual disability"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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            "panel": {
                "id": 285,
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                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Neurodevelopmental disorders",
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                "version": "6.9",
                "version_created": "2024-05-02T13:20:33.072816Z",
                "relevant_disorders": [
                    "Coarse facial features including Coffin-Siris-like disorders",
                    "ID",
                    "Moderate",
                    "severe or profound intellectual disability",
                    "Schizophrenia plus additional features",
                    "Intellectual disability - microarray",
                    "fragile X and sequencing",
                    "Intellectual disability - microarray and sequencing",
                    "R29"
                ],
                "stats": {
                    "number_of_genes": 2686,
                    "number_of_strs": 12,
                    "number_of_regions": 65
                },
                "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": [
                    "NAC1",
                    "NAC-1",
                    "BEND8",
                    "BTBD30"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:20967",
                "gene_name": "nucleus accumbens associated 1",
                "omim_gene": [
                    "610672"
                ],
                "alias_name": [
                    "nucleus accumbens associated 1",
                    "BEN domain containing 8"
                ],
                "gene_symbol": "NACC1",
                "hgnc_symbol": "NACC1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:13228917-13251955",
                            "ensembl_id": "ENSG00000160877"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "19:13118103-13141141",
                            "ensembl_id": "ENSG00000160877"
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                    }
                },
                "hgnc_date_symbol_changed": "2008-10-03"
            },
            "entity_type": "gene",
            "entity_name": "NACC1",
            "confidence_level": "3",
            "penetrance": "Complete",
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            "publications": [
                "28132692"
            ],
            "evidence": [
                "Victorian Clinical Genetics Services",
                "Expert Review Green",
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            ],
            "phenotypes": [
                "Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, 617393",
                "profound developmental delay"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
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                "missense"
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                "name": "Intellectual disability",
                "disease_group": "Neurology and neurodevelopmental disorders",
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                "version": "6.9",
                "version_created": "2024-05-02T13:20:33.072816Z",
                "relevant_disorders": [
                    "Coarse facial features including Coffin-Siris-like disorders",
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                    "Moderate",
                    "severe or profound intellectual disability",
                    "Schizophrenia plus additional features",
                    "Intellectual disability - microarray",
                    "fragile X and sequencing",
                    "Intellectual disability - microarray and sequencing",
                    "R29"
                ],
                "stats": {
                    "number_of_genes": 2686,
                    "number_of_strs": 12,
                    "number_of_regions": 65
                },
                "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": [
                    "E1k"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8124",
                "gene_name": "oxoglutarate dehydrogenase",
                "omim_gene": [
                    "613022"
                ],
                "alias_name": null,
                "gene_symbol": "OGDH",
                "hgnc_symbol": "OGDH",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "7:44646171-44748665",
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                    },
                    "GRch38": {
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                    }
                },
                "hgnc_date_symbol_changed": "1989-06-30"
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            "entity_type": "gene",
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            "confidence_level": "2",
            "penetrance": "Complete",
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                "36520152"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Amber",
                "Radboud University Medical Center, Nijmegen"
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            "phenotypes": [
                "Alpha-ketoglutarate dehydrogenase deficiency, OMIM:203740",
                "oxoglutaricaciduria, MONDO:0008759"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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            "panel": {
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                "hash_id": "55928cf522c1fc4f7d26e960",
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                "disease_group": "Metabolic disorders",
                "disease_sub_group": "Mitochondrial",
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                "version": "6.4",
                "version_created": "2024-05-02T10:46:01.152040Z",
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                    "Lactic acidosis",
                    "All recognised syndromes and those with suggestive features"
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                    "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": [
                    "PM/Scl-75",
                    "Rrp45p",
                    "RRP45",
                    "p5",
                    "p6"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9137",
                "gene_name": "exosome component 9",
                "omim_gene": [
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                "alias_name": [
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                "gene_symbol": "EXOSC9",
                "hgnc_symbol": "EXOSC9",
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                "ensembl_genes": {
                    "GRch37": {
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                },
                "hgnc_date_symbol_changed": "2004-06-18"
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            "publications": [],
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                "Expert Review Green",
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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                "hash_id": null,
                "name": "Hereditary ataxia with onset in adulthood",
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                "version_created": "2024-05-02T12:48:15.566823Z",
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                    "Hereditary ataxia - adult onset",
                    "R54"
                ],
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                    "number_of_genes": 248,
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                    "number_of_regions": 4
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                "types": [
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                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    },
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CCHL"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4837",
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                "omim_gene": [
                    "300056"
                ],
                "alias_name": [
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                "gene_symbol": "HCCS",
                "hgnc_symbol": "HCCS",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                },
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            "entity_type": "gene",
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                "Expert Review Green",
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            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
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                    "Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy",
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                    "Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy",
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                    "Rod-cone dystrophy",
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                    "Familial exudative retinopathy",
                    "Sorsby retinal dystrophy",
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                    "R32"
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                    {
                        "name": "GMS Rare Disease Virtual",
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                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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                ]
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        {
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                "Expert Review Green"
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                "version_created": "2024-05-02T13:52:40.847312Z",
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                    "Cone Dysfunction Syndrome",
                    "Developmental macular and foveal dystrophy",
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                    "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",
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                    "Rod-cone dystrophy",
                    "Familial exudative vitreoretinopathy",
                    "Familial exudative retinopathy",
                    "Sorsby retinal dystrophy",
                    "Doyne retinal dystrophy",
                    "R32"
                ],
                "stats": {
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                "types": [
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                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "querkopf",
                    "qkf",
                    "Morf",
                    "MOZ2",
                    "ZC2HC6B"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17582",
                "gene_name": "lysine acetyltransferase 6B",
                "omim_gene": [
                    "605880"
                ],
                "alias_name": [
                    "MOZ-related factor"
                ],
                "gene_symbol": "KAT6B",
                "hgnc_symbol": "KAT6B",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:76585340-76792380",
                            "ensembl_id": "ENSG00000156650"
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                    },
                    "GRch38": {
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                            "location": "10:74825582-75032622",
                            "ensembl_id": "ENSG00000156650"
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                    }
                },
                "hgnc_date_symbol_changed": "2011-07-21"
            },
            "entity_type": "gene",
            "entity_name": "KAT6B",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "NHS GMS"
            ],
            "phenotypes": [
                "SBBYSS syndrome (blepharophimosis), 603736"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "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": [
                    "REP-1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1940",
                "gene_name": "CHM, Rab escort protein 1",
                "omim_gene": [
                    "300390"
                ],
                "alias_name": null,
                "gene_symbol": "CHM",
                "hgnc_symbol": "CHM",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:85116185-85302566",
                            "ensembl_id": "ENSG00000188419"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:85861180-86047562",
                            "ensembl_id": "ENSG00000188419"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "CHM",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Red"
            ],
            "phenotypes": [
                "Choroideremia, 303100",
                "Eye Disorders"
            ],
            "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": {
                "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": [
                    "PSST",
                    "FLJ46880",
                    "FLJ45860",
                    "CI-20"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7714",
                "gene_name": "NADH:ubiquinone oxidoreductase core subunit S7",
                "omim_gene": [
                    "601825"
                ],
                "alias_name": [
                    "complex I 20kDa subunit",
                    "NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial"
                ],
                "gene_symbol": "NDUFS7",
                "hgnc_symbol": "NDUFS7",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:1383526-1395583",
                            "ensembl_id": "ENSG00000115286"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:1383527-1395589",
                            "ensembl_id": "ENSG00000115286"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1996-07-26"
            },
            "entity_type": "gene",
            "entity_name": "NDUFS7",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "NHS GMS",
                "London North GLH"
            ],
            "phenotypes": [
                "Mitochondrial complex I deficiency, nuclear type 3, 618224"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 540,
                "hash_id": null,
                "name": "Adult onset dystonia, chorea or related movement disorder",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "3.18",
                "version_created": "2023-10-26T10:55:08.890471Z",
                "relevant_disorders": [
                    "Adult onset movement disorder",
                    "R56"
                ],
                "stats": {
                    "number_of_genes": 206,
                    "number_of_strs": 11,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "HT2A",
                    "TATIP",
                    "BBS11"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:16380",
                "gene_name": "tripartite motif containing 32",
                "omim_gene": [
                    "602290"
                ],
                "alias_name": null,
                "gene_symbol": "TRIM32",
                "hgnc_symbol": "TRIM32",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:119449581-119463579",
                            "ensembl_id": "ENSG00000119401"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "9:116687302-116701300",
                            "ensembl_id": "ENSG00000119401"
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                    }
                },
                "hgnc_date_symbol_changed": "2001-08-10"
            },
            "entity_type": "gene",
            "entity_name": "TRIM32",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "11822024",
                "16606853"
            ],
            "evidence": [
                "UKGTN",
                "Expert Review Red",
                "Expert list",
                "Emory Genetics Laboratory",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "?Bardet-Biedl syndrome 11, 615988",
                "Muscular dystrophy, limb-girdle, type 2H, 254110"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 722,
                "hash_id": null,
                "name": "Ophthalmological ciliopathies",
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                "disease_sub_group": "",
                "status": "public",
                "version": "4.1",
                "version_created": "2024-05-01T12:44:05.436763Z",
                "relevant_disorders": [],
                "stats": {
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                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "KIAA0760",
                    "OAZ",
                    "Roaz",
                    "Ebfaz",
                    "Zfp104",
                    "NPHP14",
                    "JBTS19"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:16762",
                "gene_name": "zinc finger protein 423",
                "omim_gene": [
                    "604557"
                ],
                "alias_name": [
                    "OLF-1/EBF associated zinc finger gene",
                    " Smad- and Olf-interacting zinc finger protein",
                    "early B-cell factor associated zinc finger protein"
                ],
                "gene_symbol": "ZNF423",
                "hgnc_symbol": "ZNF423",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "16:49521435-49891830",
                            "ensembl_id": "ENSG00000102935"
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                    },
                    "GRch38": {
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                            "location": "16:49487524-49857919",
                            "ensembl_id": "ENSG00000102935"
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                    }
                },
                "hgnc_date_symbol_changed": "2004-04-06"
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            "entity_type": "gene",
            "entity_name": "ZNF423",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "22863007",
                "32925911",
                "33323469"
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            "evidence": [
                "Expert Review Amber"
            ],
            "phenotypes": [
                "Joubert syndrome 19, OMIM:614844",
                "Nephronophthisis 14, OMIM:614844"
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            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
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            "panel": {
                "id": 724,
                "hash_id": null,
                "name": "Neurological ciliopathies",
                "disease_group": "Ciliopathies",
                "disease_sub_group": "Congenital malformations caused by ciliopathies",
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                "version": "4.1",
                "version_created": "2024-05-01T12:43:29.641166Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 65,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FCP1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2498",
                "gene_name": "CTD phosphatase subunit 1",
                "omim_gene": [
                    "604927"
                ],
                "alias_name": null,
                "gene_symbol": "CTDP1",
                "hgnc_symbol": "CTDP1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "18:77439801-77514510",
                            "ensembl_id": "ENSG00000060069"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "18:79679801-79756623",
                            "ensembl_id": "ENSG00000060069"
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                    }
                },
                "hgnc_date_symbol_changed": "1999-02-09"
            },
            "entity_type": "gene",
            "entity_name": "CTDP1",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
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                "24690360",
                "14517542"
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            "evidence": [
                "Expert Review Amber",
                "South West GLH",
                "UKGTN",
                "Emory Genetics Laboratory",
                "Expert list",
                "NHS GMS",
                "NHS GMS",
                "South West GLH"
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            "phenotypes": [
                "Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN)"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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            "panel": {
                "id": 846,
                "hash_id": null,
                "name": "Hereditary neuropathy or pain disorder",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "4.8",
                "version_created": "2024-05-02T10:12:57.865626Z",
                "relevant_disorders": [
                    "Hereditary neuropathy NOT PMP22 copy number",
                    "Hereditary neuropathy or pain disorder - NOT PMP22 copy number",
                    "R78"
                ],
                "stats": {
                    "number_of_genes": 312,
                    "number_of_strs": 1,
                    "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": [
                    "KIAA0294",
                    "Gef10"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14103",
                "gene_name": "Rho guanine nucleotide exchange factor 10",
                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "ARHGEF10",
                "hgnc_symbol": "ARHGEF10",
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                "ensembl_genes": {
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                            "ensembl_id": "ENSG00000104728"
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                    },
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                },
                "hgnc_date_symbol_changed": "2000-12-01"
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            "entity_type": "gene",
            "entity_name": "ARHGEF10",
            "confidence_level": "2",
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            "publications": [
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                "25275565",
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            "evidence": [
                "Expert Review Amber",
                "South West GLH",
                "UKGTN",
                "Expert list",
                "London North GLH",
                "NHS GMS",
                "South West GLH",
                "NHS GMS",
                "London North GLH"
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            "phenotypes": [
                "?Slowed nerve conduction velocity, AD, 608236"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
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            "panel": {
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                    "Hereditary neuropathy NOT PMP22 copy number",
                    "Hereditary neuropathy or pain disorder - NOT PMP22 copy number",
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                    "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",
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                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
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                ]
            },
            "transcript": null
        },
        {
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                    "MGC88819",
                    "S10"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10383",
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                "alias_name": null,
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                "ensembl_genes": {
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                            "location": "6:34385231-34393902",
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                    },
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                },
                "hgnc_date_symbol_changed": "1997-07-07"
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            "entity_type": "gene",
            "entity_name": "RPS10",
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            "penetrance": null,
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            "publications": [
                "30847515"
            ],
            "evidence": [
                "Next Generation Children Project",
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Diamond-Blackfan anemia 9, 613308"
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            "panel": {
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                "hash_id": null,
                "name": "Severe Paediatric Disorders",
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                "disease_sub_group": "",
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                },
                "types": [
                    {
                        "name": "Research",
                        "slug": "research",
                        "description": "This is a gene panel used for research."
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                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8966",
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                "omim_gene": [
                    "605947"
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                "alias_name": [
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                "hgnc_symbol": "PIGL",
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                "ensembl_genes": {
                    "GRch37": {
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                            "location": "17:16120505-16252115",
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                    },
                    "GRch38": {
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                            "ensembl_id": "ENSG00000108474"
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                    }
                },
                "hgnc_date_symbol_changed": "1999-04-15"
            },
            "entity_type": "gene",
            "entity_name": "PIGL",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "30847515"
            ],
            "evidence": [
                "Next Generation Children Project",
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "CHIME syndrome, 280000"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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            "panel": {
                "id": 921,
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                        "description": "This is a gene panel used for research."
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            "entity_name": "BCL10",
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            "mode_of_pathogenicity": "",
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                        "description": "This is a gene panel used for research."
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                ]
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                        "name": "Research",
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                        "description": "This is a gene panel used for research."
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                        "description": "This is a gene panel used for research."
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        {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2482",
                "gene_name": "cystatin B",
                "omim_gene": [
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