GET /api/v1/panels/99/?version=2.4
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{
    "id": 99,
    "name": "Haematuria",
    "strs": [],
    "genes": [
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Expert Review"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2202",
                "gene_name": "collagen type IV alpha 1 chain",
                "omim_gene": [
                    "120130"
                ],
                "alias_name": null,
                "gene_symbol": "COL4A1",
                "hgnc_symbol": "COL4A1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "13:110801318-110959496",
                            "ensembl_id": "ENSG00000187498"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "13:110148963-110307149",
                            "ensembl_id": "ENSG00000187498"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Exophytic renal cysts",
                "raised creatinine kinase",
                "tortuous retinal vessels",
                "intracranial anuerysms",
                "haematuria",
                "Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps \t611773",
                "HANAC"
            ],
            "transcript": null,
            "entity_name": "COL4A1",
            "entity_type": "gene",
            "publications": [
                "18160688",
                "20818663",
                "27190376",
                "26839400",
                "26260163",
                "28717939",
                "19238787"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Eligibility statement prior genetic testing",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2204",
                "gene_name": "collagen type IV alpha 3 chain",
                "omim_gene": [
                    "120070"
                ],
                "alias_name": [
                    "tumstatin"
                ],
                "gene_symbol": "COL4A3",
                "hgnc_symbol": "COL4A3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:228029281-228179508",
                            "ensembl_id": "ENSG00000169031"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:227164565-227314792",
                            "ensembl_id": "ENSG00000169031"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-09-12"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Alport syndrome, autosomal recessive, 203780",
                "Hematuria, benign familial, 141200",
                "Alport syndrome, autosomal dominant, 104200",
                "Alport Syndrome",
                "Hematuria, Benign Familial",
                "Alport Syndrome, X-Linked",
                "Alport Syndrome, Autosomal Recessive",
                "Alport Syndrome, Autosomal Dominant",
                "thin glomerular basement membrane nephropathy or Alport syndrome",
                "Alport syndrome, autosomal dominant",
                "Alport syndrome, autosomal recessive",
                "Alport Syndrome",
                "(originally on Alport syndrome gene panel)"
            ],
            "transcript": null,
            "entity_name": "COL4A3",
            "entity_type": "gene",
            "publications": [
                "17942953",
                "30506145",
                "29987460",
                "24052634"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
            "mode_of_pathogenicity": "Other - please provide details in the comments"
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Eligibility statement prior genetic testing",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "CA44"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2206",
                "gene_name": "collagen type IV alpha 4 chain",
                "omim_gene": [
                    "120131"
                ],
                "alias_name": [
                    "collagen of basement membrane, alpha-4 chain"
                ],
                "gene_symbol": "COL4A4",
                "hgnc_symbol": "COL4A4",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:227867427-228028829",
                            "ensembl_id": "ENSG00000081052"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:227002711-227164113",
                            "ensembl_id": "ENSG00000081052"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-06-25"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Alport syndrome, autosomal recessive, 203780",
                "Hematuria,familial benign",
                "Alport Syndrome",
                "Hematuria, Benign Familial",
                "Alport Syndrome, X-Linked",
                "Alport Syndrome, Autosomal Recessive",
                "Alport Syndrome, Autosomal Dominant",
                "thin glomerular basement membrane nephropathy or Alport syndrome",
                "Alport syndrome, autosomal recessive",
                "(originally on Alport syndrome gene panel)"
            ],
            "transcript": null,
            "entity_name": "COL4A4",
            "entity_type": "gene",
            "publications": [
                "17942953",
                "30506145",
                "29987460",
                "24052634"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
            "mode_of_pathogenicity": "Other - please provide details in the comments"
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Eligibility statement prior genetic testing",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2207",
                "gene_name": "collagen type IV alpha 5 chain",
                "omim_gene": [
                    "303630"
                ],
                "alias_name": null,
                "gene_symbol": "COL4A5",
                "hgnc_symbol": "COL4A5",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:107683074-107940775",
                            "ensembl_id": "ENSG00000188153"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:108439844-108697545",
                            "ensembl_id": "ENSG00000188153"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "diffuse leiomyomatosis with Alport syndrome = contiguous gene syndrome with COL4A6",
                "Alport syndrome, 301050",
                "Hematuria, Benign Familial",
                "Alport Syndrome, X-Linked",
                "Alport Syndrome, Autosomal Recessive",
                "Alport Syndrome, Autosomal Dominant",
                "thin glomerular basement membrane nephropathy or Alport syndrome",
                "Alport syndrome",
                "(originally on Alport syndrome gene panel)"
            ],
            "transcript": null,
            "entity_name": "COL4A5",
            "entity_type": "gene",
            "publications": [
                "14514738"
            ],
            "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 - please provide details in the comments"
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Eligibility statement prior genetic testing"
            ],
            "gene_data": {
                "alias": [
                    "NMMHCA",
                    "NMHC-II-A",
                    "MHA",
                    "FTNS",
                    "EPSTS"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7579",
                "gene_name": "myosin heavy chain 9",
                "omim_gene": [
                    "160775"
                ],
                "alias_name": [
                    "nonmuscle myosin heavy chain II-A"
                ],
                "gene_symbol": "MYH9",
                "hgnc_symbol": "MYH9",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "22:36677327-36784063",
                            "ensembl_id": "ENSG00000100345"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "22:36281281-36388018",
                            "ensembl_id": "ENSG00000100345"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1990-03-12"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Macrothrombocytopaenia",
                "leukocyte inclusion bodies",
                "sensorineural deafness",
                "proteinuria",
                "haematuria",
                "cataracts",
                "renal failure",
                "Epstein syndrome, 153650",
                "Fechtner syndrome, 153640"
            ],
            "transcript": null,
            "entity_name": "MYH9",
            "entity_type": "gene",
            "publications": [
                "10973259",
                "12792306",
                "22627578"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "NHS GMS",
                "Expert Review",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "FHR5",
                    "FHR-5"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:24668",
                "gene_name": "complement factor H related 5",
                "omim_gene": [
                    "608593"
                ],
                "alias_name": [
                    "factor H related protein 5"
                ],
                "gene_symbol": "CFHR5",
                "hgnc_symbol": "CFHR5",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:196946667-196978804",
                            "ensembl_id": "ENSG00000134389"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:196977556-197009674",
                            "ensembl_id": "ENSG00000134389"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-02-28"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Haematuria",
                "C3 glomerulopathy",
                "kidney failure",
                "macroscopic haematuria",
                "Nephropathy due to CFHR5 deficiency #614809"
            ],
            "transcript": null,
            "entity_name": "CFHR5",
            "entity_type": "gene",
            "publications": [
                "20800271",
                "24067434",
                "23402027"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": "Other - please provide details in the comments"
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Red",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2208",
                "gene_name": "collagen type IV alpha 6 chain",
                "omim_gene": [
                    "303631"
                ],
                "alias_name": null,
                "gene_symbol": "COL4A6",
                "hgnc_symbol": "COL4A6",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:107386780-107682727",
                            "ensembl_id": "ENSG00000197565"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:108155607-108439497",
                            "ensembl_id": "ENSG00000197565"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-10-01"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5",
                "Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4)",
                "diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5 Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4)",
                "(originally on Alport syndrome gene panel)"
            ],
            "transcript": null,
            "entity_name": "COL4A6",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Red",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "SRN1",
                    "PDCN"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13394",
                "gene_name": "NPHS2, podocin",
                "omim_gene": [
                    "604766"
                ],
                "alias_name": null,
                "gene_symbol": "NPHS2",
                "hgnc_symbol": "NPHS2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:179519674-179545087",
                            "ensembl_id": "ENSG00000116218"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:179550539-179575952",
                            "ensembl_id": "ENSG00000116218"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-11-21"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Hematuria, Benign Familial",
                "Alport Syndrome, X-Linked",
                "Alport Syndrome, Autosomal Recessive",
                "Alport Syndrome, Autosomal Dominant",
                "Nephrotic Syndrome, Type 2",
                "?Modifier of COL4A variants"
            ],
            "transcript": null,
            "entity_name": "NPHS2",
            "entity_type": "gene",
            "publications": [
                "26138234"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        }
    ],
    "stats": {
        "number_of_strs": 0,
        "number_of_genes": 8,
        "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 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": "55e01bb222c1fc6199b42904",
    "regions": [],
    "version": "2.4",
    "disease_group": "Renal and urinary tract disorders",
    "version_created": "2020-03-04T11:49:24.820620Z",
    "disease_sub_group": "Syndromes with prominent renal abnormalities",
    "relevant_disorders": [
        "Alport syndrome",
        "Familial haematuria",
        "R194"
    ],
    "signed_off": "2020-10-15"
}