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{
    "id": 83,
    "name": "Membranoproliferative glomerulonephritis",
    "strs": [],
    "genes": [
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "NHS GMS",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "CPAMD1",
                    "ARMD9",
                    "C3a",
                    "C3b"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1318",
                "gene_name": "complement C3",
                "omim_gene": [
                    "120700"
                ],
                "alias_name": [
                    "C3a anaphylatoxin",
                    "complement component C3a",
                    "complement component C3b",
                    "prepro-C3"
                ],
                "gene_symbol": "C3",
                "hgnc_symbol": "C3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "19:6677715-6730573",
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                    },
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                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": "Complete",
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                "Haemolytic uraemic syndrome",
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                "C3G",
                "C3 deficiency, 613779",
                "Immune complex MPGN",
                "IC-MPGN"
            ],
            "transcript": null,
            "entity_name": "C3",
            "entity_type": "gene",
            "publications": [
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                "18796626",
                "21902819",
                "26471127"
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            "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": [
                "for-review"
            ],
            "evidence": [
                "Expert Review Green",
                "NHS GMS",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "H2-Bf"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1037",
                "gene_name": "complement factor B",
                "omim_gene": [
                    "138470"
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                "alias_name": null,
                "gene_symbol": "CFB",
                "hgnc_symbol": "CFB",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "6:31895475-31919861",
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                    },
                    "GRch38": {
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                    }
                },
                "hgnc_date_symbol_changed": "2006-02-10"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Haemolytic uraemic syndrome",
                "aHUS",
                "Hemolytic uremic syndrome, atypical, susceptibility to, 4, 612924",
                "C3 glomerulopathy",
                "C3G",
                "Immune complex MPGN",
                "IC-MPGN",
                "MPGN",
                "Membranoproliferative glomerulonephritis"
            ],
            "transcript": null,
            "entity_name": "CFB",
            "entity_type": "gene",
            "publications": [
                "25758434",
                "17182750",
                "21902819",
                "26283675"
            ],
            "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 Review Green",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "HUS",
                    "FHL1",
                    "ARMS1",
                    "ARMD4"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4883",
                "gene_name": "complement factor H",
                "omim_gene": [
                    "134370"
                ],
                "alias_name": [
                    "beta-1H",
                    "H factor 2 (complement)",
                    "age-related maculopathy susceptibility 1"
                ],
                "gene_symbol": "CFH",
                "hgnc_symbol": "CFH",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:196621008-196716634",
                            "ensembl_id": "ENSG00000000971"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:196651878-196747504",
                            "ensembl_id": "ENSG00000000971"
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                    }
                },
                "hgnc_date_symbol_changed": "2004-08-12"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "C3 glomerulopathy",
                "C3G",
                "Immune complex MPGN",
                "IC-MPGN",
                "Hemolytic uremic syndrome, atypical, susceptibility to, 1, 235400",
                "Dense Deposit Disease",
                "Membranoproliferative Glomerulonephritis Type II",
                "Immune-complex-mediated MPGN"
            ],
            "transcript": null,
            "entity_name": "CFH",
            "entity_type": "gene",
            "publications": [
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                "16612335",
                "24722444",
                "27458560",
                "9312129"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "currently-ngs-unreportable"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "H36-1",
                    "FHR1",
                    "CFHL",
                    "H36-2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4888",
                "gene_name": "complement factor H related 1",
                "omim_gene": [
                    "134371"
                ],
                "alias_name": null,
                "gene_symbol": "CFHR1",
                "hgnc_symbol": "CFHR1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "1:196788887-196801319",
                            "ensembl_id": "ENSG00000244414"
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                    },
                    "GRch38": {
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                            "ensembl_id": "ENSG00000244414"
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                },
                "hgnc_date_symbol_changed": "2006-02-28"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "C3 glomerulopathy",
                "C3G",
                "Immune complex MPGN",
                "IC-MPGN",
                "Hemolytic uremic syndrome, atypical, susceptibility to, 235400",
                "Immune-complex-mediated MPGN"
            ],
            "transcript": null,
            "entity_name": "CFHR1",
            "entity_type": "gene",
            "publications": [
                "24172683",
                "23728178",
                "24334459",
                "20800271",
                "27458560"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "currently-ngs-unreportable"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "FHR2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4890",
                "gene_name": "complement factor H related 2",
                "omim_gene": [
                    "600889"
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                "alias_name": null,
                "gene_symbol": "CFHR2",
                "hgnc_symbol": "CFHR2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:196788898-196928356",
                            "ensembl_id": "ENSG00000080910"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "1:196943772-196959226",
                            "ensembl_id": "ENSG00000080910"
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                    }
                },
                "hgnc_date_symbol_changed": "2006-02-28"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "C3 glomerulopathy",
                "C3G",
                "Immune complex MPGN",
                "IC-MPGN",
                "Immune-complex-mediated MPGN"
            ],
            "transcript": null,
            "entity_name": "CFHR2",
            "entity_type": "gene",
            "publications": [
                "24172683",
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                "20800271",
                "22456601",
                "27458560"
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            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "currently-ngs-unreportable"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert list"
            ],
            "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"
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                    },
                    "GRch38": {
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                            "location": "1:196977556-197009674",
                            "ensembl_id": "ENSG00000134389"
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                    }
                },
                "hgnc_date_symbol_changed": "2006-02-28"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "C3 glomerulopathy",
                "C3G",
                "Immune complex MPGN",
                "IC-MPGN",
                "Nephropathy due to CFHR5 deficiency,614809",
                "Immune-complex-mediated MPGN",
                "CFHR5 nephropathy"
            ],
            "transcript": null,
            "entity_name": "CFHR5",
            "entity_type": "gene",
            "publications": [
                "24172683",
                "20800271",
                "24067434",
                "23728178",
                "27458560"
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            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "for-review"
            ],
            "evidence": [
                "Expert Review Green",
                "NHS GMS",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "FI",
                    "C3b-INA",
                    "KAF"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:5394",
                "gene_name": "complement factor I",
                "omim_gene": [
                    "217030"
                ],
                "alias_name": [
                    "Konglutinogen-activating factor",
                    "C3b-inactivator"
                ],
                "gene_symbol": "CFI",
                "hgnc_symbol": "CFI",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
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                            "ensembl_id": "ENSG00000205403"
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                    },
                    "GRch38": {
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                            "ensembl_id": "ENSG00000205403"
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                    }
                },
                "hgnc_date_symbol_changed": "2006-02-10"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "C3 glomerulopathy",
                "C3G",
                "Immune complex MPGN",
                "IC-MPGN",
                "Immune-complex-mediated MPGN",
                "Hemolytic uremic syndrome, atypical, susceptibility to, 3,612923"
            ],
            "transcript": null,
            "entity_name": "CFI",
            "entity_type": "gene",
            "publications": [
                "24172683",
                "18371543",
                "22456601",
                "27458560"
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            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "DAGK6",
                    "DGK"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2852",
                "gene_name": "diacylglycerol kinase epsilon",
                "omim_gene": [
                    "601440"
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                "alias_name": null,
                "gene_symbol": "DGKE",
                "hgnc_symbol": "DGKE",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "17:54911460-54946036",
                            "ensembl_id": "ENSG00000153933"
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                    },
                    "GRch38": {
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                            "ensembl_id": "ENSG00000153933"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-10-02"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Haemolytic uraemic syndrome",
                "aHUS",
                "Hemolytic uremic syndrome, atypical, susceptibility to, 7, 615008",
                "Nephrotic syndrome, type 7, 615008",
                "C3 glomerulopathy",
                "C3G",
                "Immune complex MPGN",
                "IC-MPGN"
            ],
            "transcript": null,
            "entity_name": "DGKE",
            "entity_type": "gene",
            "publications": [
                "23274426",
                "23542698",
                "21902819",
                "28526779"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "TRA2.10",
                    "MGC26544",
                    "TLX"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6953",
                "gene_name": "CD46 molecule",
                "omim_gene": [
                    "120920"
                ],
                "alias_name": null,
                "gene_symbol": "CD46",
                "hgnc_symbol": "CD46",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:207925402-207968858",
                            "ensembl_id": "ENSG00000117335"
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                    },
                    "GRch38": {
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                },
                "hgnc_date_symbol_changed": "2006-02-09"
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            "penetrance": "Complete",
            "phenotypes": [
                "Haemolytic uraemic syndrome",
                "aHUS",
                "Hemolytic uremic syndrome, atypical, susceptibility to, 2, 612922",
                "C3 glomerulopathy",
                "C3G",
                "Immune complex MPGN",
                "IC-MPGN"
            ],
            "transcript": null,
            "entity_name": "CD46",
            "entity_type": "gene",
            "publications": [
                "24172683",
                "22456601",
                "14615110",
                "21902819"
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            "confidence_level": "1",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        }
    ],
    "stats": {
        "number_of_strs": 0,
        "number_of_genes": 9,
        "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": "58c805938f6203413360f1cb",
    "regions": [],
    "version": "2.13",
    "disease_group": "Renal and urinary tract disorders",
    "version_created": "2020-10-16T08:11:21.462473Z",
    "disease_sub_group": "Syndromes with prominent renal abnormalities",
    "relevant_disorders": [
        "PMG",
        "MPGN",
        "Primary Membranoproliferative Glomerulonephritis",
        "Primary membranoproliferative glomerulonephritis",
        "R197"
    ],
    "signed_off": "2020-10-16"
}