Search Entities

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            "gene_data": {
                "alias": [
                    "p51",
                    "SHFM4",
                    "EEC3",
                    "p63",
                    "p73L",
                    "OFC8",
                    "KET",
                    "p73H",
                    "NBP",
                    "p53CP"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:15979",
                "gene_name": "tumor protein p63",
                "omim_gene": [
                    "603273"
                ],
                "alias_name": null,
                "gene_symbol": "TP63",
                "hgnc_symbol": "TP63",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:189349205-189615068",
                            "ensembl_id": "ENSG00000073282"
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                        "90": {
                            "location": "3:189631416-189897279",
                            "ensembl_id": "ENSG00000073282"
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                },
                "hgnc_date_symbol_changed": "2002-04-18"
            },
            "entity_type": "gene",
            "entity_name": "TP63",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Other"
            ],
            "phenotypes": [
                "Hay-Wells syndrome, 106260",
                "Red, cracking, peeling skin at birth"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 24,
                "hash_id": "568ea06122c1fc1c78b67161",
                "name": "Peeling skin syndrome",
                "disease_group": "Dermatological disorders",
                "disease_sub_group": "Skin fragility disorders",
                "status": "public",
                "version": "1.2",
                "version_created": "2017-11-05T02:37:19.863085Z",
                "relevant_disorders": [],
                "stats": {
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                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "MGC88819",
                    "S10"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10383",
                "gene_name": "ribosomal protein S10",
                "omim_gene": [
                    "603632"
                ],
                "alias_name": null,
                "gene_symbol": "RPS10",
                "hgnc_symbol": "RPS10",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:34385231-34393902",
                            "ensembl_id": "ENSG00000124614"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "6:34417454-34426125",
                            "ensembl_id": "ENSG00000124614"
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                    }
                },
                "hgnc_date_symbol_changed": "1997-07-07"
            },
            "entity_type": "gene",
            "entity_name": "RPS10",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "20116044",
                "25946618",
                "22510774",
                "22939629",
                "22863883"
            ],
            "evidence": [
                "Expert Review Green",
                "ClinGen"
            ],
            "phenotypes": [
                "Diamond-Blackfan anemia",
                "OrphaNet ORPHA124",
                "OMIM 613308"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 64,
                "hash_id": "58ee38f88f62033bda307d54",
                "name": "ClinGen Gene Validity Curations",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "0.64",
                "version_created": "2019-06-20T15:10:34.572009Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 47,
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                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "ClinGen Curated genes",
                        "slug": "clingen-curated-genes",
                        "description": "ClinGen Curated genes"
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                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "ET3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3178",
                "gene_name": "endothelin 3",
                "omim_gene": [
                    "131242"
                ],
                "alias_name": null,
                "gene_symbol": "EDN3",
                "hgnc_symbol": "EDN3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "20:57875482-57901047",
                            "ensembl_id": "ENSG00000124205"
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                    },
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                            "ensembl_id": "ENSG00000124205"
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                },
                "hgnc_date_symbol_changed": "1989-09-06"
            },
            "entity_type": "gene",
            "entity_name": "EDN3",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "28543993",
                "27370713",
                "8630502",
                "8630503",
                "20583152",
                "19764030"
            ],
            "evidence": [
                "Expert Review Green",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen",
                "Alder Hey - Erasmus MC"
            ],
            "phenotypes": [
                "susceptibility to Hirschsprung disease 4, 613712",
                "{Hirschsprung disease, susceptibility to, 4}, 613712",
                "Waardenburg syndrome, type 4B, 613265",
                "Hirschsprung Disease, Dominant",
                "Waardenburg syndrome",
                "WS4B",
                "total colonic aganglionosis",
                "short-segment Hirschsprung disease"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
            "tags": [
                "monogenic-polygenic"
            ],
            "panel": {
                "id": 63,
                "hash_id": "58c7f5008f620328d77ce70f",
                "name": "Familial Hirschsprung Disease",
                "disease_group": "Gastroenterological disorders",
                "disease_sub_group": "Gastrointestinal disorders",
                "status": "public",
                "version": "1.9",
                "version_created": "2021-01-19T18:07:25.634925Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 63,
                    "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": [
                    "FLJ20507",
                    "FLJ22257"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26038",
                "gene_name": "transmembrane protein 127",
                "omim_gene": [
                    "613403"
                ],
                "alias_name": null,
                "gene_symbol": "TMEM127",
                "hgnc_symbol": "TMEM127",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:96914254-96931732",
                            "ensembl_id": "ENSG00000135956"
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                            "location": "2:96248516-96265994",
                            "ensembl_id": "ENSG00000135956"
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                },
                "hgnc_date_symbol_changed": "2006-02-13"
            },
            "entity_type": "gene",
            "entity_name": "TMEM127",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Neuroendocrine cancer"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 183,
                "hash_id": "596f87dc8f620352d0e3eee2",
                "name": "Neuroendocrine cancer pertinent cancer susceptibility",
                "disease_group": "Cancer Programme",
                "disease_sub_group": "Pertinent cancer susceptibility gene panel",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T02:37:20.183866Z",
                "relevant_disorders": [
                    "phaeochromocytoma",
                    "paraganglioma",
                    "carcinoid",
                    "Neuroendocrine"
                ],
                "stats": {
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                    "number_of_regions": 0
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                "types": [
                    {
                        "name": "Cancer Germline 100K",
                        "slug": "cancer-germline-100k",
                        "description": "Cancer Germline 100K"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "KIAA0309",
                    "EAF1",
                    "SWR1",
                    "DOMO1"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:16974",
                "gene_name": "Snf2 related CREBBP activator protein",
                "omim_gene": [
                    "611421"
                ],
                "alias_name": [
                    "Swi2/Snf2-related ATPase homolog (S. cerevisiae)",
                    "domino homolog 1 (Drosophila)"
                ],
                "gene_symbol": "SRCAP",
                "hgnc_symbol": "SRCAP",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:30709530-30755602",
                            "ensembl_id": "ENSG00000080603"
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                        "90": {
                            "location": "16:30698209-30741409",
                            "ensembl_id": "ENSG00000080603"
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                    }
                },
                "hgnc_date_symbol_changed": "2007-11-29"
            },
            "entity_type": "gene",
            "entity_name": "SRCAP",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Emory Genetics Laboratory"
            ],
            "phenotypes": [
                "Floating-Harbor syndrome, 136140"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 131,
                "hash_id": "553f9744bb5a1616e5ed45e8",
                "name": "IUGR and IGF abnormalities",
                "disease_group": "Endocrine disorders",
                "disease_sub_group": "Growth hormone disorders",
                "status": "public",
                "version": "1.35",
                "version_created": "2020-12-24T15:20:45.614070Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 110,
                    "number_of_strs": 0,
                    "number_of_regions": 5
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "ATPIC",
                    "PFIC"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3706",
                "gene_name": "ATPase phospholipid transporting 8B1",
                "omim_gene": [
                    "602397"
                ],
                "alias_name": null,
                "gene_symbol": "ATP8B1",
                "hgnc_symbol": "ATP8B1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "18:55313658-55470333",
                            "ensembl_id": "ENSG00000081923"
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                    },
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                        "90": {
                            "location": "18:57646426-57803101",
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                    }
                },
                "hgnc_date_symbol_changed": "1996-12-17"
            },
            "entity_type": "gene",
            "entity_name": "ATP8B1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "Other - please provide details in the comments",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Victorian Clinical Genetics Services",
                "Illumina TruGenome Clinical Sequencing Services",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory"
            ],
            "phenotypes": [
                "Neonatal and Adult Cholestasis",
                "Cholestasis, benign recurrent intrahepatic, 243300",
                "Cholestasis, intrahepatic, of pregnancy, 1, 147480",
                "Cholestasis, progressive familial intrahepatic 1, 211600",
                "Cholestasis, Progressive Familial Intrahepatic 1",
                "Familial Intrahepatic Cholestasis"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 385,
                "hash_id": null,
                "name": "Neonatal cholestasis",
                "disease_group": "Gastroenterological disorders",
                "disease_sub_group": "Liver disease",
                "status": "public",
                "version": "1.17",
                "version_created": "2020-12-24T11:51:42.814943Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 94,
                    "number_of_strs": 0,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CPX",
                    "CPXD",
                    "CHO2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3133",
                "gene_name": "emopamil binding protein (sterol isomerase)",
                "omim_gene": [
                    "300205"
                ],
                "alias_name": [
                    "3-beta-hydroxysteroid-delta-8,delta-7-isomerase",
                    "Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)",
                    "sterol 8-isomerase"
                ],
                "gene_symbol": "EBP",
                "hgnc_symbol": "EBP",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:48379546-48387104",
                            "ensembl_id": "ENSG00000147155"
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                },
                "hgnc_date_symbol_changed": "2000-02-21"
            },
            "entity_type": "gene",
            "entity_name": "EBP",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "23137060",
                "6408138"
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            "evidence": [
                "Literature"
            ],
            "phenotypes": [
                "Chondrodysplasia punctata, X-linked dominant, 302960",
                "Conradi Huenermann: Chondrodysplasia punctata"
            ],
            "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": 144,
                "hash_id": "5763f4868f620350a199604f",
                "name": "Fetal hydrops",
                "disease_group": "Dysmorphic and congenital abnormality syndromes",
                "disease_sub_group": "Fetal disorders",
                "status": "public",
                "version": "1.23",
                "version_created": "2020-09-25T11:51:34.151222Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 88,
                    "number_of_strs": 1,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CATCH22"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11592",
                "gene_name": "T-box 1",
                "omim_gene": [
                    "602054"
                ],
                "alias_name": null,
                "gene_symbol": "TBX1",
                "hgnc_symbol": "TBX1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "22:19744226-19771116",
                            "ensembl_id": "ENSG00000184058"
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                    },
                    "GRch38": {
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                            "location": "22:19756703-19783593",
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                    }
                },
                "hgnc_date_symbol_changed": "1997-05-15"
            },
            "entity_type": "gene",
            "entity_name": "TBX1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "11242110",
                "24198816",
                "14585638",
                "32086639",
                "32048120"
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            "evidence": [
                "Expert Review Green",
                "IUIS Classification February 2018",
                "SCID v1.6",
                "IUIS Classification December 2019",
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                "Victorian Clinical Genetics Services",
                "ESID Registry 20171117",
                "IUIS Classification December 2019",
                "IUIS Classification February 2018",
                "Victorian Clinical Genetics Services",
                "ESID Registry 20171117",
                "GRID V2.0",
                "SCID v1.6"
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            "phenotypes": [
                "Hypoparathyroidism, conotruncal cardiac malformation, velopalatal insufficiency, abnormal facies, intellectual disability",
                "DiGeorge syndrome 188400",
                "Di George syndrome",
                "T-B+ SCID",
                "Severe combined immunodeficiency (SCID)",
                "Combined immunodeficiencies with associated or syndromic features"
            ],
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            "tags": [],
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                "version_created": "2021-01-20T16:04:21.982539Z",
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                    "number_of_genes": 691,
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                    "number_of_regions": 2
                },
                "types": [
                    {
                        "name": "Research",
                        "slug": "research",
                        "description": "This is a gene panel used for research."
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                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1033",
                "gene_name": "brain derived neurotrophic factor",
                "omim_gene": [
                    "113505"
                ],
                "alias_name": [
                    "neurotrophin"
                ],
                "gene_symbol": "BDNF",
                "hgnc_symbol": "BDNF",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:27676440-27743605",
                            "ensembl_id": "ENSG00000176697"
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                    },
                    "GRch38": {
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                            "location": "11:27654893-27722058",
                            "ensembl_id": "ENSG00000176697"
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                    }
                },
                "hgnc_date_symbol_changed": "1991-01-15"
            },
            "entity_type": "gene",
            "entity_name": "BDNF",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "Emory Genetics Laboratory"
            ],
            "phenotypes": [
                "Central hypoventilation syndrome, congenital"
            ],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 200,
                "hash_id": "563259de22c1fc58285b2840",
                "name": "Familial pulmonary fibrosis",
                "disease_group": "Respiratory disorders",
                "disease_sub_group": "Interstitial lung disorders",
                "status": "public",
                "version": "1.13",
                "version_created": "2020-10-12T13:30:46.736241Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 72,
                    "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": [
                    "NF-E1",
                    "DELTA",
                    "UCRBP",
                    "YIN-YANG-1",
                    "INO80S"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12856",
                "gene_name": "YY1 transcription factor",
                "omim_gene": [
                    "600013"
                ],
                "alias_name": [
                    "INO80 complex subunit S",
                    "Yin and Yang 1 protein"
                ],
                "gene_symbol": "YY1",
                "hgnc_symbol": "YY1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:100704635-100749129",
                            "ensembl_id": "ENSG00000100811"
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                    }
                },
                "hgnc_date_symbol_changed": "1993-09-17"
            },
            "entity_type": "gene",
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            "entity_type": "gene",
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                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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                "types": [
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                "hgnc_id": "HGNC:7693",
                "gene_name": "NADH:ubiquinone oxidoreductase subunit A9",
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                "alias_name": [
                    "short chain dehydrogenase/reductase family 22E, member 1",
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                    "Likely inborn error of metabolism",
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                    "glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"
                ],
                "gene_symbol": "EXTL3",
                "hgnc_symbol": "EXTL3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:28457986-28613116",
                            "ensembl_id": "ENSG00000012232"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "8:28600469-28755599",
                            "ensembl_id": "ENSG00000012232"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-03-20"
            },
            "entity_type": "gene",
            "entity_name": "EXTL3",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "Other - please provide details in the comments",
            "publications": [
                "28132690"
            ],
            "evidence": [
                "Expert Review Amber",
                "DD-Gene2Phenotype"
            ],
            "phenotypes": [
                "Neuro immuno skeletal Dysplasia Syndrome"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 484,
                "hash_id": null,
                "name": "DDG2P",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "2.18",
                "version_created": "2021-01-20T12:43:50.853654Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1914,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    },
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:987",
                "gene_name": "branched chain keto acid dehydrogenase E1 subunit beta",
                "omim_gene": [
                    "248611"
                ],
                "alias_name": [
                    "maple syrup urine disease",
                    "2-oxoisovalerate dehydrogenase subunit beta, mitochondrial"
                ],
                "gene_symbol": "BCKDHB",
                "hgnc_symbol": "BCKDHB",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:80816364-81055987",
                            "ensembl_id": "ENSG00000083123"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:80106647-80346270",
                            "ensembl_id": "ENSG00000083123"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1989-06-30"
            },
            "entity_type": "gene",
            "entity_name": "BCKDHB",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "18855118",
                "11180212"
            ],
            "evidence": [
                "Expert Review Green",
                "NHS GMS",
                "London North GLH"
            ],
            "phenotypes": [
                "Maple syrup urine disease, type Ib, 248600",
                "Maple Syrup Urine Disease",
                "Metabolic encephalopathy, elevated branched chain amino acids in urine, acute axonal neuropath"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 85,
                "hash_id": "55ad205422c1fc7041340234",
                "name": "Hereditary neuropathy",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor and Sensory Disorders of the PNS",
                "status": "public",
                "version": "1.383",
                "version_created": "2021-01-25T14:53:49.862236Z",
                "relevant_disorders": [
                    "Charcot-Marie-Tooth disease"
                ],
                "stats": {
                    "number_of_genes": 278,
                    "number_of_strs": 11,
                    "number_of_regions": 2
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "STL2",
                    "CO11A1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2186",
                "gene_name": "collagen type XI alpha 1 chain",
                "omim_gene": [
                    "120280"
                ],
                "alias_name": [
                    "collagen XI, alpha-1 polypeptide"
                ],
                "gene_symbol": "COL11A1",
                "hgnc_symbol": "COL11A1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:103342023-103574052",
                            "ensembl_id": "ENSG00000060718"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:102876467-103108496",
                            "ensembl_id": "ENSG00000060718"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1989-05-08"
            },
            "entity_type": "gene",
            "entity_name": "COL11A1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Victorian Clinical Genetics Services",
                "Expert Review Green",
                "Eligibility statement prior genetic testing",
                "UKGTN"
            ],
            "phenotypes": [
                "Orofacial Clefting with skeletal features",
                "Stickler Syndrome",
                "Cleft palate"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 81,
                "hash_id": "57acb8268f620364dc61afd3",
                "name": "Clefting",
                "disease_group": "Dysmorphic and congenital abnormality syndromes",
                "disease_sub_group": "Dysmorphic disorders",
                "status": "public",
                "version": "2.20",
                "version_created": "2021-01-20T13:55:16.621200Z",
                "relevant_disorders": [
                    "Familial non-syndromic cleft lip and or familial cleft palate",
                    "Familial non-syndromic clefting",
                    "Syndromic cleft lip and or cleft palate",
                    "Syndromic clefting"
                ],
                "stats": {
                    "number_of_genes": 262,
                    "number_of_strs": 0,
                    "number_of_regions": 5
                },
                "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": [
                    "KIAA1034",
                    "FLJ21474"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21637",
                "gene_name": "SATB homeobox 2",
                "omim_gene": [
                    "608148"
                ],
                "alias_name": null,
                "gene_symbol": "SATB2",
                "hgnc_symbol": "SATB2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:200134223-200335989",
                            "ensembl_id": "ENSG00000119042"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:199269500-199471266",
                            "ensembl_id": "ENSG00000119042"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-07-08"
            },
            "entity_type": "gene",
            "entity_name": "SATB2",
            "confidence_level": "0",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "32446642"
            ],
            "evidence": [
                "Literature"
            ],
            "phenotypes": [
                "Glass syndrome, MIM# 612313"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 402,
                "hash_id": null,
                "name": "Genetic epilepsy syndromes",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Inherited Epilepsy Syndromes",
                "status": "public",
                "version": "2.274",
                "version_created": "2021-01-25T18:35:04.805559Z",
                "relevant_disorders": [
                    "Epilepsy Plus",
                    "Epilepsy plus other features",
                    "Genetic Epilepsy Syndromes",
                    "Epileptic encephalopathy",
                    "Familial Focal Epilepsies",
                    "Familial Genetic Generalised Epilepsies",
                    "Genetic Epilepsies with Febrile Seizures Plus (GEFS+)",
                    "Genetic Epilepsies with Febrile Seizures Plus",
                    "Early onset or syndromic epilepsy",
                    "R59"
                ],
                "stats": {
                    "number_of_genes": 707,
                    "number_of_strs": 2,
                    "number_of_regions": 15
                },
                "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": [
                    "DRN3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12269",
                "gene_name": "three prime repair exonuclease 1",
                "omim_gene": [
                    "606609"
                ],
                "alias_name": null,
                "gene_symbol": "TREX1",
                "hgnc_symbol": "TREX1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:48506445-48509044",
                            "ensembl_id": "ENSG00000213689"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "3:48465811-48467645",
                            "ensembl_id": "ENSG00000213689"
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                    }
                },
                "hgnc_date_symbol_changed": "2000-05-17"
            },
            "entity_type": "gene",
            "entity_name": "TREX1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "29239743",
                "15883328",
                "17846997",
                "17357087",
                "18583934"
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            "evidence": [
                "Wessex and West Midlands GLH",
                "NHS GMS",
                "Expert Review Green",
                "Victorian Clinical Genetics Services"
            ],
            "phenotypes": [
                "Aicardi-Goutieres syndrome 1, dominant and recessive, 225750",
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                "Vasculopathy, retinal, with cerebral leukodystrophy, 192315",
                "{Systemic lupus erythematosus, susceptibility to}, 152700"
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            "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 402,
                "hash_id": null,
                "name": "Genetic epilepsy syndromes",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Inherited Epilepsy Syndromes",
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                "version": "2.274",
                "version_created": "2021-01-25T18:35:04.805559Z",
                "relevant_disorders": [
                    "Epilepsy Plus",
                    "Epilepsy plus other features",
                    "Genetic Epilepsy Syndromes",
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                    "Familial Focal Epilepsies",
                    "Familial Genetic Generalised Epilepsies",
                    "Genetic Epilepsies with Febrile Seizures Plus (GEFS+)",
                    "Genetic Epilepsies with Febrile Seizures Plus",
                    "Early onset or syndromic epilepsy",
                    "R59"
                ],
                "stats": {
                    "number_of_genes": 707,
                    "number_of_strs": 2,
                    "number_of_regions": 15
                },
                "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": {
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                    "BIG2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:15853",
                "gene_name": "ADP ribosylation factor guanine nucleotide exchange factor 2",
                "omim_gene": [
                    "605371"
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                "alias_name": [
                    "Brefeldin A-inhibited guanine nucleotide-exchange protein 2"
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                "gene_symbol": "ARFGEF2",
                "hgnc_symbol": "ARFGEF2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "20:47538427-47653230",
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                    },
                    "GRch38": {
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                            "location": "20:48921890-49036693",
                            "ensembl_id": "ENSG00000124198"
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                    }
                },
                "hgnc_date_symbol_changed": "2001-06-21"
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            "entity_type": "gene",
            "entity_name": "ARFGEF2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [],
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                "Wessex and West Midlands GLH",
                "NHS GMS",
                "Expert Review Green",
                "Victorian Clinical Genetics Services"
            ],
            "phenotypes": [
                "Periventricular heterotopia with microcephaly 608097"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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            "panel": {
                "id": 402,
                "hash_id": null,
                "name": "Genetic epilepsy syndromes",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Inherited Epilepsy Syndromes",
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                "version_created": "2021-01-25T18:35:04.805559Z",
                "relevant_disorders": [
                    "Epilepsy Plus",
                    "Epilepsy plus other features",
                    "Genetic Epilepsy Syndromes",
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                    "Familial Genetic Generalised Epilepsies",
                    "Genetic Epilepsies with Febrile Seizures Plus (GEFS+)",
                    "Genetic Epilepsies with Febrile Seizures Plus",
                    "Early onset or syndromic epilepsy",
                    "R59"
                ],
                "stats": {
                    "number_of_genes": 707,
                    "number_of_strs": 2,
                    "number_of_regions": 15
                },
                "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": [
                    "MLLT2-like"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6473",
                "gene_name": "AF4/FMR2 family member 3",
                "omim_gene": [
                    "601464"
                ],
                "alias_name": null,
                "gene_symbol": "AFF3",
                "hgnc_symbol": "AFF3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:100162323-100759201",
                            "ensembl_id": "ENSG00000144218"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "2:99545419-100142739",
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                },
                "hgnc_date_symbol_changed": "2005-06-27"
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            "entity_type": "gene",
            "entity_name": "AFF3",
            "confidence_level": "3",
            "penetrance": "unknown",
            "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
            "publications": [
                "https://doi.org/10.1101/693937",
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                "21677750",
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            "evidence": [
                "Expert Review Green",
                "Wessex and West Midlands GLH",
                "NHS GMS",
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            "phenotypes": [
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                "Seizures",
                "KINSSHIP syndrome"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [
                "missense"
            ],
            "panel": {
                "id": 402,
                "hash_id": null,
                "name": "Genetic epilepsy syndromes",
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                "disease_sub_group": "Inherited Epilepsy Syndromes",
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                "version": "2.274",
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                "relevant_disorders": [
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                    "Epilepsy plus other features",
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                    "Genetic Epilepsies with Febrile Seizures Plus (GEFS+)",
                    "Genetic Epilepsies with Febrile Seizures Plus",
                    "Early onset or syndromic epilepsy",
                    "R59"
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                "stats": {
                    "number_of_genes": 707,
                    "number_of_strs": 2,
                    "number_of_regions": 15
                },
                "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": [
                    "hILP"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:592",
                "gene_name": "X-linked inhibitor of apoptosis",
                "omim_gene": [
                    "300079"
                ],
                "alias_name": null,
                "gene_symbol": "XIAP",
                "hgnc_symbol": "XIAP",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:122993574-123047829",
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                    },
                    "GRch38": {
                        "90": {
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                },
                "hgnc_date_symbol_changed": "2008-03-04"
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            "entity_type": "gene",
            "entity_name": "XIAP",
            "confidence_level": "1",
            "penetrance": "Complete",
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                "25450604"
            ],
            "evidence": [
                "Expert Review Red"
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            "phenotypes": [],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
            "tags": [],
            "panel": {
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                "hash_id": "558aa423bb5a16630e15b63c",
                "name": "Intellectual disability",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Neurodevelopmental disorders",
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                "version": "3.740",
                "version_created": "2021-01-25T18:26:28.122186Z",
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                    "Coarse facial features including Coffin-Siris-like disorders",
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                    "Moderate",
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                    "Intellectual disability - microarray",
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                    "R29"
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                    "number_of_regions": 57
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                "types": [
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                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "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"
                    },
                    {
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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",
                    "Rod Dysfunction Syndrome",
                    "Rod-cone dystrophy",
                    "Familial exudative vitreoretinopathy",
                    "Familial exudative retinopathy",
                    "R32",
                    "R33",
                    "R34",
                    "R35"
                ],
                "stats": {
                    "number_of_genes": 390,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "NPHS5"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6487",
                "gene_name": "laminin subunit beta 2",
                "omim_gene": [
                    "150325"
                ],
                "alias_name": [
                    "laminin S"
                ],
                "gene_symbol": "LAMB2",
                "hgnc_symbol": "LAMB2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:49158547-49170551",
                            "ensembl_id": "ENSG00000172037"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:49121114-49133118",
                            "ensembl_id": "ENSG00000172037"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-05-06"
            },
            "entity_type": "gene",
            "entity_name": "LAMB2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "27130041",
                "30778388",
                "28188379",
                "30120985",
                "28683731",
                "29450879"
            ],
            "evidence": [
                "Expert Review Green",
                "NHS GMS"
            ],
            "phenotypes": [
                "Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199",
                "Pierson syndrome, 609049"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 509,
                "hash_id": null,
                "name": "Structural eye disease",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.42",
                "version_created": "2021-01-20T10:53:16.965571Z",
                "relevant_disorders": [
                    "R36"
                ],
                "stats": {
                    "number_of_genes": 471,
                    "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": [
                    "CSNBAD3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4393",
                "gene_name": "G protein subunit alpha transducin 1",
                "omim_gene": [
                    "139330"
                ],
                "alias_name": null,
                "gene_symbol": "GNAT1",
                "hgnc_symbol": "GNAT1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:50229045-50233949",
                            "ensembl_id": "ENSG00000114349"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:50191612-50196516",
                            "ensembl_id": "ENSG00000114349"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "GNAT1",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Red"
            ],
            "phenotypes": [
                "?Night blindness, congenital stationary, type 1G, 616389",
                "Night blindness, congenital stationary, autosomal dominant 3, 610444",
                "Eye Disorders"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 509,
                "hash_id": null,
                "name": "Structural eye disease",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.42",
                "version_created": "2021-01-20T10:53:16.965571Z",
                "relevant_disorders": [
                    "R36"
                ],
                "stats": {
                    "number_of_genes": 471,
                    "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": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7820",
                "gene_name": "NHS actin remodeling regulator",
                "omim_gene": [
                    "300457"
                ],
                "alias_name": null,
                "gene_symbol": "NHS",
                "hgnc_symbol": "NHS",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:17393543-17754114",
                            "ensembl_id": "ENSG00000188158"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:17375420-17735994",
                            "ensembl_id": "ENSG00000188158"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1989-06-30"
            },
            "entity_type": "gene",
            "entity_name": "NHS",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "28922055",
                "17417607",
                "23566852"
            ],
            "evidence": [
                "Expert Review Green",
                "NHS GMS"
            ],
            "phenotypes": [
                "Nance-Horan syndrome, 302350",
                "Cataract 40, X-linked, 302200"
            ],
            "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": "1.42",
                "version_created": "2021-01-20T10:53:16.965571Z",
                "relevant_disorders": [
                    "R36"
                ],
                "stats": {
                    "number_of_genes": 471,
                    "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": [
                    "U5-116KD",
                    "Snrp116",
                    "Snu114",
                    "SNRNP116"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:30858",
                "gene_name": "elongation factor Tu GTP binding domain containing 2",
                "omim_gene": [
                    "603892"
                ],
                "alias_name": [
                    "U5 snRNP specific protein, 116 kD"
                ],
                "gene_symbol": "EFTUD2",
                "hgnc_symbol": "EFTUD2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:42927311-42977030",
                            "ensembl_id": "ENSG00000108883"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:44849943-44899662",
                            "ensembl_id": "ENSG00000108883"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-07-26"
            },
            "entity_type": "gene",
            "entity_name": "EFTUD2",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "26118977"
            ],
            "evidence": [
                "Expert Review Amber",
                "NHS GMS"
            ],
            "phenotypes": [
                "Mandibulofacial dysostosis, Guion-Almeida type, 610536"
            ],
            "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": "1.42",
                "version_created": "2021-01-20T10:53:16.965571Z",
                "relevant_disorders": [
                    "R36"
                ],
                "stats": {
                    "number_of_genes": 471,
                    "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": [
                    "DIC1",
                    "PCD",
                    "CILD1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2954",
                "gene_name": "dynein axonemal intermediate chain 1",
                "omim_gene": [
                    "604366"
                ],
                "alias_name": null,
                "gene_symbol": "DNAI1",
                "hgnc_symbol": "DNAI1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:34457412-34520982",
                            "ensembl_id": "ENSG00000122735"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:34457414-34520989",
                            "ensembl_id": "ENSG00000122735"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-06-16"
            },
            "entity_type": "gene",
            "entity_name": "DNAI1",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "Emory Genetics Laboratory",
                "Radboud University Medical Center, Nijmegen",
                "Expert list"
            ],
            "phenotypes": [
                "Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 150,
                "hash_id": "568ea01e22c1fc1c78b6715d",
                "name": "Rare multisystem ciliopathy disorders",
                "disease_group": "Ciliopathies",
                "disease_sub_group": "Congenital malformations caused by ciliopathies",
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                "version": "1.136",
                "version_created": "2021-01-15T12:09:44.271390Z",
                "relevant_disorders": [
                    "Joubert syndrome",
                    "Bardet-Biedl Syndrome"
                ],
                "stats": {
                    "number_of_genes": 202,
                    "number_of_strs": 0,
                    "number_of_regions": 2
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "Pwdmp",
                    "KIAA1638",
                    "FLJ23127",
                    "ORF26",
                    "DYF-2",
                    "Oseg6",
                    "IFT144",
                    "NPHP13"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:18340",
                "gene_name": "WD repeat domain 19",
                "omim_gene": [
                    "608151"
                ],
                "alias_name": [
                    "intraflagellar transport 144 homolog (Chlamydomonas)"
                ],
                "gene_symbol": "WDR19",
                "hgnc_symbol": "WDR19",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:39184024-39287430",
                            "ensembl_id": "ENSG00000157796"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "4:39182404-39285810",
                            "ensembl_id": "ENSG00000157796"
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                    }
                },
                "hgnc_date_symbol_changed": "2002-04-26"
            },
            "entity_type": "gene",
            "entity_name": "WDR19",
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            "penetrance": "Complete",
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            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Illumina TruGenome Clinical Sequencing Services",
                "Other",
                "Orphanet",
                "UKGTN",
                "Emory Genetics Laboratory",
                "Radboud University Medical Center, Nijmegen",
                "Expert list"
            ],
            "phenotypes": [
                "Nephronophthisis 13, 614377",
                "Senior-Loken syndrome 8, 616307",
                "?Cranioectodermal dysplasia 4, 614378",
                "?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376",
                "Cranioectodermal dysplasia",
                "Jeune syndrome",
                "Nephronophthisis",
                "Senior-Loken syndrome",
                "?Short-rib thoracic dysplasia 5 with or without polydactyly"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 150,
                "hash_id": "568ea01e22c1fc1c78b6715d",
                "name": "Rare multisystem ciliopathy disorders",
                "disease_group": "Ciliopathies",
                "disease_sub_group": "Congenital malformations caused by ciliopathies",
                "status": "public",
                "version": "1.136",
                "version_created": "2021-01-15T12:09:44.271390Z",
                "relevant_disorders": [
                    "Joubert syndrome",
                    "Bardet-Biedl Syndrome"
                ],
                "stats": {
                    "number_of_genes": 202,
                    "number_of_strs": 0,
                    "number_of_regions": 2
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "PNPase",
                    "OLD35",
                    "old-35"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:23166",
                "gene_name": "polyribonucleotide nucleotidyltransferase 1",
                "omim_gene": [
                    "610316"
                ],
                "alias_name": [
                    "polynucleotide phosphorylase",
                    "3'-5' RNA exonuclease"
                ],
                "gene_symbol": "PNPT1",
                "hgnc_symbol": "PNPT1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "2:55861400-55921045",
                            "ensembl_id": "ENSG00000138035"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:55634265-55693910",
                            "ensembl_id": "ENSG00000138035"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-09-25"
            },
            "entity_type": "gene",
            "entity_name": "PNPT1",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "30046113",
                "23084291"
            ],
            "evidence": [
                "NHS GMS",
                "South West GLH",
                "Expert Review Red"
            ],
            "phenotypes": [
                "Combined oxidative phosphorylation deficiency 13, 614932",
                "Dystonia"
            ],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 540,
                "hash_id": null,
                "name": "Adult onset movement disorder",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.16",
                "version_created": "2020-11-20T16:04:22.346339Z",
                "relevant_disorders": [
                    "R56"
                ],
                "stats": {
                    "number_of_genes": 204,
                    "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": [
                    "cblE"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7473",
                "gene_name": "5-methyltetrahydrofolate-homocysteine methyltransferase reductase",
                "omim_gene": [
                    "602568"
                ],
                "alias_name": null,
                "gene_symbol": "MTRR",
                "hgnc_symbol": "MTRR",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:7851299-7906138",
                            "ensembl_id": "ENSG00000124275"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "5:7851186-7906025",
                            "ensembl_id": "ENSG00000124275"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-04-20"
            },
            "entity_type": "gene",
            "entity_name": "MTRR",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Red",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Homocystinuria-megaloblastic anemia, cbl E type, 236270",
                "(originally on the Imerslund-Grasbeck syndrome gene panel)"
            ],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
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                "hash_id": "55af787822c1fc78a829f89f",
                "name": "Proteinuric renal disease",
                "disease_group": "Renal and urinary tract disorders",
                "disease_sub_group": "Syndromes with prominent renal abnormalities",
                "status": "public",
                "version": "2.44",
                "version_created": "2021-01-16T13:10:53.053272Z",
                "relevant_disorders": [
                    "R195"
                ],
                "stats": {
                    "number_of_genes": 104,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    },
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
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                    "cblG"
                ],
                "biotype": "protein_coding",
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            "publications": [],
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                "Expert Review Green",
                "Expert Review"
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                "Huntington disease 143100"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "repeated_sequence": "CAG",
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            "pathogenic_repeats": 40,
            "tags": [
                "STR"
            ],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.207",
                "version_created": "2020-12-18T16:07:41.280680Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 161,
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                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "alias": [
                    "CST6",
                    "PME"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2482",
                "gene_name": "cystatin B",
                "omim_gene": [
                    "601145"
                ],
                "alias_name": [
                    "stefin B"
                ],
                "gene_symbol": "CSTB",
                "hgnc_symbol": "CSTB",
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                "ensembl_genes": {
                    "GRch37": {
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                            "location": "21:45192393-45196326",
                            "ensembl_id": "ENSG00000160213"
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                "hgnc_date_symbol_changed": "1996-12-12"
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            "entity_type": "str",
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                "NHS GMS",
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                "Expert list"
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                "version": "2.274",
                "version_created": "2021-01-25T18:35:04.805559Z",
                "relevant_disorders": [
                    "Epilepsy Plus",
                    "Epilepsy plus other features",
                    "Genetic Epilepsy Syndromes",
                    "Epileptic encephalopathy",
                    "Familial Focal Epilepsies",
                    "Familial Genetic Generalised Epilepsies",
                    "Genetic Epilepsies with Febrile Seizures Plus (GEFS+)",
                    "Genetic Epilepsies with Febrile Seizures Plus",
                    "Early onset or syndromic epilepsy",
                    "R59"
                ],
                "stats": {
                    "number_of_genes": 707,
                    "number_of_strs": 2,
                    "number_of_regions": 15
                },
                "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."
                    }
                ]
            }
        },
        {
            "gene_data": null,
            "entity_type": "region",
            "entity_name": "ISCA-37478-Loss",
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            "penetrance": null,
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            "triplosensitivity_score": "",
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            "type_of_variants": "cnv_loss",
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                "Expert Review Green",
                "ClinGen"
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                "Prader-Willi syndrome",
                "105830"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
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                "hash_id": "5541ef3dbb5a160c33b964e0",
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                "disease_sub_group": "Motor and Sensory Disorders of the PNS",
                "status": "public",
                "version": "1.35",
                "version_created": "2021-01-04T14:58:22.832897Z",
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                    "number_of_regions": 5
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                    {
                        "name": "GMS Rare Disease",
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                    },
                    {
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                        "description": "This panel is a component of a Super Panel"
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}