GET /api/v1/panels/123/?version=2.0
HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept

{
    "id": 123,
    "hash_id": "5633857722c1fc582756e3d9",
    "name": "Hereditary haemorrhagic telangiectasia",
    "disease_group": "Respiratory disorders",
    "disease_sub_group": "Vascular lung disorders",
    "status": "public",
    "version": "2.0",
    "version_created": "2019-09-23T17:00:03.179221Z",
    "relevant_disorders": [
        "Familial and multiple pulmonary arteriovenous malformations",
        "R186"
    ],
    "stats": {
        "number_of_genes": 15,
        "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."
        }
    ],
    "genes": [
        {
            "gene_data": {
                "alias": [
                    "HHT2",
                    "ALK1",
                    "HHT"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:175",
                "gene_name": "activin A receptor like type 1",
                "omim_gene": [
                    "601284"
                ],
                "alias_name": null,
                "gene_symbol": "ACVRL1",
                "hgnc_symbol": "ACVRL1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:52300692-52317145",
                            "ensembl_id": "ENSG00000139567"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:51906908-51923361",
                            "ensembl_id": "ENSG00000139567"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-12-12"
            },
            "entity_type": "gene",
            "entity_name": "ACVRL1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "8640225",
                "16155196",
                "14684682"
            ],
            "evidence": [
                "NHS GMS",
                "Eligibility statement prior genetic testing",
                "Expert Review Green",
                "Emory Genetics Laboratory",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN",
                "Emory Genetics Laboratory",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Telangiectasia, hereditary hemorrhagic, type 2 600376",
                "epistaxis",
                "telangiectasia",
                "hepatic arteriovenous malformation",
                "pulmonary arteriovenous malformation",
                "cerebral pulmonary arteriovenous malformation",
                "pulmonary arterial hypertension"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "END",
                    "HHT1",
                    "CD105"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3349",
                "gene_name": "endoglin",
                "omim_gene": [
                    "131195"
                ],
                "alias_name": null,
                "gene_symbol": "ENG",
                "hgnc_symbol": "ENG",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:130577291-130617035",
                            "ensembl_id": "ENSG00000106991"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:127815012-127854756",
                            "ensembl_id": "ENSG00000106991"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-03-03"
            },
            "entity_type": "gene",
            "entity_name": "ENG",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "7894484",
                "16155196",
                "14684682",
                "22192717",
                "21967607",
                "28989145"
            ],
            "evidence": [
                "NHS GMS",
                "Eligibility statement prior genetic testing",
                "Expert Review Green",
                "Emory Genetics Laboratory",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN",
                "Emory Genetics Laboratory",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Telangiectasia, hereditary hemorrhagic, type 1, 187300",
                "Epistaxis (HP:0000421)",
                "Nasal mucosa telangiectasia (HP:0000434)",
                "Lip telangiectasia (HP:0000214)",
                "Tongue telangiectasia (HP:0000227)",
                "Palate telangiectasia (HP:0002707)",
                "Finger pad telangiectasia (pulp not nail side)",
                "Gastrointestinal telangiectasia (HP:0002604)",
                "Arteriovenous malformation (HP:0100026)",
                "Cerebral arteriovenous malformation (HP:0002408)",
                "Pulmonary arteriovenous malformation (HP:0006548)",
                "Hepatic arteriovenous malformation (HP:0006574",
                ")",
                "Spinal arteriovenous malformation (HP:0002390)"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "Tyro11"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3395",
                "gene_name": "EPH receptor B4",
                "omim_gene": [
                    "600011"
                ],
                "alias_name": null,
                "gene_symbol": "EPHB4",
                "hgnc_symbol": "EPHB4",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:100400187-100425121",
                            "ensembl_id": "ENSG00000196411"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:100802565-100827521",
                            "ensembl_id": "ENSG00000196411"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-12-15"
            },
            "entity_type": "gene",
            "entity_name": "EPHB4",
            "confidence_level": "3",
            "penetrance": "Incomplete",
            "mode_of_pathogenicity": null,
            "publications": [
                "28687708",
                "28730721",
                "30760892"
            ],
            "evidence": [
                "Expert Review Green",
                "Other"
            ],
            "phenotypes": [
                "Capillary malformation-arteriovenous malformation 2, 618196",
                "Capillary malformation, epistaxis, telangiectasia, cerebral AVM"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "DPC4"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6770",
                "gene_name": "SMAD family member 4",
                "omim_gene": [
                    "600993"
                ],
                "alias_name": null,
                "gene_symbol": "SMAD4",
                "hgnc_symbol": "SMAD4",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "18:48494410-48611415",
                            "ensembl_id": "ENSG00000141646"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "18:51028394-51085045",
                            "ensembl_id": "ENSG00000141646"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-05-26"
            },
            "entity_type": "gene",
            "entity_name": "SMAD4",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "15031030"
            ],
            "evidence": [
                "NHS GMS",
                "Eligibility statement prior genetic testing",
                "Expert Review Green",
                "Emory Genetics Laboratory",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN",
                "Emory Genetics Laboratory",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "BRK-3",
                    "T-ALK",
                    "BMPR3",
                    "BMPR-II"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1078",
                "gene_name": "bone morphogenetic protein receptor type 2",
                "omim_gene": [
                    "600799"
                ],
                "alias_name": null,
                "gene_symbol": "BMPR2",
                "hgnc_symbol": "BMPR2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:203241659-203432474",
                            "ensembl_id": "ENSG00000204217"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:202376936-202567751",
                            "ensembl_id": "ENSG00000204217"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-03-19"
            },
            "entity_type": "gene",
            "entity_name": "BMPR2",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "18792970"
            ],
            "evidence": [
                "Expert Review Amber",
                "NHS GMS"
            ],
            "phenotypes": [
                "Pulmonary hypertension, familial primary, 1, with or without HHT, 178600"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "BMP-9",
                    "BMP9"
                ],
                "biotype": null,
                "hgnc_id": "HGNC:4217",
                "gene_name": "growth differentiation factor 2",
                "omim_gene": [
                    "605120"
                ],
                "alias_name": null,
                "gene_symbol": "GDF2",
                "hgnc_symbol": "GDF2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:48413092-48416853",
                            "ensembl_id": "ENSG00000128802"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:47322490-47326270",
                            "ensembl_id": "ENSG00000263761"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-09-12"
            },
            "entity_type": "gene",
            "entity_name": "GDF2",
            "confidence_level": "2",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "23972370 - 3 unrelated probands with no variants identified in ENG, ACVRL1, and SMAD4",
                "27081547 - a variant of unknown significance in GDF2 was detected in one of 93 unrelated individuals clinically suspected to have HHT who previously tested negative for mutations in ENG, ACVRL1 and SMAD4",
                "25674101 - review from the same authors as PMID:23972370"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Amber",
                "Emory Genetics Laboratory",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN",
                "Expert Review"
            ],
            "phenotypes": [
                "Telangiectasia, hereditary hemorrhagic, type 5\t615506"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "TEL1",
                    "TELO1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:795",
                "gene_name": "ATM serine/threonine kinase",
                "omim_gene": [
                    "607585"
                ],
                "alias_name": [
                    "TEL1, telomere maintenance 1, homolog (S. cerevisiae)"
                ],
                "gene_symbol": "ATM",
                "hgnc_symbol": "ATM",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:108093211-108239829",
                            "ensembl_id": "ENSG00000149311"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:108222484-108369102",
                            "ensembl_id": "ENSG00000149311"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-07-07"
            },
            "entity_type": "gene",
            "entity_name": "ATM",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "6417247",
                "2666519",
                "2212727"
            ],
            "evidence": [
                "Expert Review Red",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Ataxia-telangiectasia, 208900"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "FRP1",
                    "SCKL",
                    "SCKL1",
                    "MEC1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:882",
                "gene_name": "ATR serine/threonine kinase",
                "omim_gene": [
                    "601215"
                ],
                "alias_name": [
                    "MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"
                ],
                "gene_symbol": "ATR",
                "hgnc_symbol": "ATR",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:142168077-142297668",
                            "ensembl_id": "ENSG00000175054"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:142449235-142578826",
                            "ensembl_id": "ENSG00000175054"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-04-06"
            },
            "entity_type": "gene",
            "entity_name": "ATR",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "6417247",
                "2666519",
                "2212727"
            ],
            "evidence": [
                "Expert Review Red",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Cutaneous telangiectasia and cancer syndrome, familial, 614564 (biallelic)"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "FREAC1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3809",
                "gene_name": "forkhead box F1",
                "omim_gene": [
                    "601089"
                ],
                "alias_name": null,
                "gene_symbol": "FOXF1",
                "hgnc_symbol": "FOXF1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:86544133-86548076",
                            "ensembl_id": "ENSG00000103241"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:86510527-86515418",
                            "ensembl_id": "ENSG00000103241"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-06-05"
            },
            "entity_type": "gene",
            "entity_name": "FOXF1",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "27071622",
                "26462560",
                "27071622"
            ],
            "evidence": [
                "Expert Review Red",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Alveolar capillary dysplasia with misalignment of pulmonary veins 265380"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "CAM"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1573",
                "gene_name": "KRIT1, ankyrin repeat containing",
                "omim_gene": [
                    "604214"
                ],
                "alias_name": null,
                "gene_symbol": "KRIT1",
                "hgnc_symbol": "KRIT1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:91828283-91875480",
                            "ensembl_id": "ENSG00000001631"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:92198969-92246166",
                            "ensembl_id": "ENSG00000001631"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-03-17"
            },
            "entity_type": "gene",
            "entity_name": "KRIT1",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "UKGTN",
                "Emory Genetics Laboratory",
                "Radboud University Medical Center, Nijmegen",
                "Expert Review Red",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "phenotypes": [
                "Cavernous malformations of CNS and retina 116860",
                "Cerebral cavernous malformations-1 116860",
                "Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations 116860"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "ATLD"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7230",
                "gene_name": "MRE11 homolog, double strand break repair nuclease",
                "omim_gene": [
                    "600814"
                ],
                "alias_name": [
                    "AT-like disease"
                ],
                "gene_symbol": "MRE11",
                "hgnc_symbol": "MRE11",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:94152895-94227074",
                            "ensembl_id": "ENSG00000020922"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:94415578-94493908",
                            "ensembl_id": "ENSG00000020922"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2016-09-30"
            },
            "entity_type": "gene",
            "entity_name": "MRE11",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "6417247",
                "2666519",
                "2212727"
            ],
            "evidence": [
                "Expert Review Red",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Ataxia-telangiectasia-like disorder, 604391"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "PI3K"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8975",
                "gene_name": "phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",
                "omim_gene": [
                    "171834"
                ],
                "alias_name": null,
                "gene_symbol": "PIK3CA",
                "hgnc_symbol": "PIK3CA",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:178865902-178957881",
                            "ensembl_id": "ENSG00000121879"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:179148114-179240093",
                            "ensembl_id": "ENSG00000121879"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-07-15"
            },
            "entity_type": "gene",
            "entity_name": "PIK3CA",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "27030594",
                "27030595"
            ],
            "evidence": [
                "Expert Review Red",
                "UKGTN"
            ],
            "phenotypes": [
                "Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi",
                "Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome"
            ],
            "mode_of_inheritance": "Unknown",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "GAP",
                    "CM-AVM",
                    "p120GAP",
                    "p120RASGAP",
                    "p120"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9871",
                "gene_name": "RAS p21 protein activator 1",
                "omim_gene": [
                    "139150"
                ],
                "alias_name": [
                    "capillary malformation-arteriovenous malformation",
                    "p120 RAS GTPase activating protein"
                ],
                "gene_symbol": "RASA1",
                "hgnc_symbol": "RASA1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:86563705-86687748",
                            "ensembl_id": "ENSG00000145715"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:87267888-87391931",
                            "ensembl_id": "ENSG00000145715"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1989-06-30"
            },
            "entity_type": "gene",
            "entity_name": "RASA1",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "18446851",
                "27081547"
            ],
            "evidence": [
                "Expert Review Red",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services",
                "Emory Genetics Laboratory"
            ],
            "phenotypes": [
                "Capillary malformation-arteriovenous malformation\t608354"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11194",
                "gene_name": "SRY-box 18",
                "omim_gene": [
                    "601618"
                ],
                "alias_name": null,
                "gene_symbol": "SOX18",
                "hgnc_symbol": "SOX18",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "20:62679076-62680994",
                            "ensembl_id": "ENSG00000203883"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "20:64047582-64049641",
                            "ensembl_id": "ENSG00000203883"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-07-31"
            },
            "entity_type": "gene",
            "entity_name": "SOX18",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Hypotrichosis-lymphedema-telangiectasia syndrome, 607823",
                "Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome\t137940"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "TIE2",
                    "TIE-2",
                    "VMCM1",
                    "CD202b"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11724",
                "gene_name": "TEK receptor tyrosine kinase",
                "omim_gene": [
                    "600221"
                ],
                "alias_name": null,
                "gene_symbol": "TEK",
                "hgnc_symbol": "TEK",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:27109139-27230173",
                            "ensembl_id": "ENSG00000120156"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:27109141-27230175",
                            "ensembl_id": "ENSG00000120156"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-05-24"
            },
            "entity_type": "gene",
            "entity_name": "TEK",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "27519652"
            ],
            "evidence": [
                "Radboud University Medical Center, Nijmegen",
                "Expert Review Red",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "phenotypes": [
                "Venous malformations, multiple cutaneous and mucosal 600195"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": []
        }
    ],
    "strs": [],
    "regions": []
}