GET /api/v1/panels/507/?version=1.2
HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept

{
    "id": 507,
    "name": "Common craniosynostosis syndromes",
    "strs": [],
    "genes": [
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert list",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "LERK2",
                    "Elk-L"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3226",
                "gene_name": "ephrin B1",
                "omim_gene": [
                    "300035"
                ],
                "alias_name": null,
                "gene_symbol": "EFNB1",
                "hgnc_symbol": "EFNB1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:68048840-68061990",
                            "ensembl_id": "ENSG00000090776"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:68828997-68842147",
                            "ensembl_id": "ENSG00000090776"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-01-17"
            },
            "penetrance": null,
            "phenotypes": [
                "Craniofrontonasal dysplasia 304110"
            ],
            "transcript": null,
            "entity_name": "EFNB1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
            "mode_of_pathogenicity": "Other"
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert list",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "PE-2",
                    "PE2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3444",
                "gene_name": "ETS2 repressor factor",
                "omim_gene": [
                    "611888"
                ],
                "alias_name": null,
                "gene_symbol": "ERF",
                "hgnc_symbol": "ERF",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:42751724-42759309",
                            "ensembl_id": "ENSG00000105722"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:42247572-42255157",
                            "ensembl_id": "ENSG00000105722"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-07-17"
            },
            "penetrance": null,
            "phenotypes": [
                "Chitayat syndrome 617180",
                "Craniosynostosis 4 600775"
            ],
            "transcript": null,
            "entity_name": "ERF",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert list",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "H2",
                    "H3",
                    "H4",
                    "H5",
                    "CEK",
                    "FLG",
                    "BFGFR",
                    "N-SAM",
                    "CD331"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3688",
                "gene_name": "fibroblast growth factor receptor 1",
                "omim_gene": [
                    "136350"
                ],
                "alias_name": [
                    "Pfeiffer syndrome"
                ],
                "gene_symbol": "FGFR1",
                "hgnc_symbol": "FGFR1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:38268656-38326352",
                            "ensembl_id": "ENSG00000077782"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "8:38411138-38468834",
                            "ensembl_id": "ENSG00000077782"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-02-25"
            },
            "penetrance": null,
            "phenotypes": [
                "Jackson-Weiss syndrome",
                "Osteoglophonic dysplasia",
                "Pfeiffer syndrome"
            ],
            "transcript": null,
            "entity_name": "FGFR1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status 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"
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert list",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "CEK3",
                    "TK14",
                    "TK25",
                    "ECT1",
                    "K-SAM",
                    "CD332"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3689",
                "gene_name": "fibroblast growth factor receptor 2",
                "omim_gene": [
                    "176943"
                ],
                "alias_name": [
                    "Crouzon syndrome",
                    "Pfeiffer syndrome"
                ],
                "gene_symbol": "FGFR2",
                "hgnc_symbol": "FGFR2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:123237848-123357972",
                            "ensembl_id": "ENSG00000066468"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:121478334-121598458",
                            "ensembl_id": "ENSG00000066468"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-05-09"
            },
            "penetrance": null,
            "phenotypes": [
                "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410",
                "Apert syndrome 101200",
                "Beare-Stevenson cutis gyrata syndrome 123790",
                "Pfeiffer syndrome 101600",
                "Craniofacial-skeletal-dermatologic dysplasia 101600",
                "Crouzon syndrome 123500",
                "Jackson-Weiss syndrome 123150",
                "Saethre-Chotzen syndrome 101400",
                "Scaphocephaly, maxillary retrusion, and mental retardation 609579"
            ],
            "transcript": null,
            "entity_name": "FGFR2",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status 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"
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert list",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "CEK2",
                    "JTK4",
                    "CD333"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3690",
                "gene_name": "fibroblast growth factor receptor 3",
                "omim_gene": [
                    "134934"
                ],
                "alias_name": null,
                "gene_symbol": "FGFR3",
                "hgnc_symbol": "FGFR3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:1795034-1810599",
                            "ensembl_id": "ENSG00000068078"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:1793307-1808872",
                            "ensembl_id": "ENSG00000068078"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-06-07"
            },
            "penetrance": null,
            "phenotypes": [
                "Muenke syndrome 602849",
                "Crouzon syndrome with acanthosis nigricans 612247",
                "Thanatophoric dysplasia, type I 187600",
                "Thanatophoric dysplasia, type II 187601"
            ],
            "transcript": null,
            "entity_name": "FGFR3",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status 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"
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert list",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "HEB",
                    "HTF4",
                    "HsT17266",
                    "bHLHb20"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11623",
                "gene_name": "transcription factor 12",
                "omim_gene": [
                    "600480"
                ],
                "alias_name": [
                    "helix-loop-helix transcription factor 4"
                ],
                "gene_symbol": "TCF12",
                "hgnc_symbol": "TCF12",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:57210821-57591479",
                            "ensembl_id": "ENSG00000140262"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:56918623-57299281",
                            "ensembl_id": "ENSG00000140262"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-06-17"
            },
            "penetrance": null,
            "phenotypes": [
                "Craniosynostosis 3 615314"
            ],
            "transcript": null,
            "entity_name": "TCF12",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert list",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "SCS",
                    "H-twist",
                    "BPES2",
                    "bHLHa38",
                    "CRS1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12428",
                "gene_name": "twist family bHLH transcription factor 1",
                "omim_gene": [
                    "601622"
                ],
                "alias_name": [
                    "Saethre-Chotzen syndrome"
                ],
                "gene_symbol": "TWIST1",
                "hgnc_symbol": "TWIST1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:19060614-19157295",
                            "ensembl_id": "ENSG00000122691"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:19020991-19117672",
                            "ensembl_id": "ENSG00000122691"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-03-28"
            },
            "penetrance": null,
            "phenotypes": [
                "Craniosynostosis 1 123100",
                "Saethre-Chotzen syndrome with or without eyelid anomalies 101400"
            ],
            "transcript": null,
            "entity_name": "TWIST1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        }
    ],
    "stats": {
        "number_of_strs": 0,
        "number_of_genes": 7,
        "number_of_regions": 0
    },
    "types": [
        {
            "name": "GMS Rare Disease",
            "slug": "gms-rare-disease",
            "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
        },
        {
            "name": "GMS signed-off",
            "slug": "gms-signed-off",
            "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
        }
    ],
    "status": "public",
    "hash_id": null,
    "regions": [],
    "version": "1.2",
    "disease_group": "",
    "version_created": "2020-02-13T13:37:33.900843Z",
    "disease_sub_group": "",
    "relevant_disorders": [
        "R99"
    ],
    "signed_off": "2020-02-13"
}