GET /api/v1/panels/535/?version=1.2
HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept

{
    "id": 535,
    "name": "Mitochondrial disorder with complex II deficiency",
    "strs": [],
    "genes": [
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "FP",
                    "SDHF"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10680",
                "gene_name": "succinate dehydrogenase complex flavoprotein subunit A",
                "omim_gene": [
                    "600857"
                ],
                "alias_name": [
                    "succinate dehydrogenase [ubiquinone] flavoprotein subunit",
                    "flavoprotein subunit of complex II"
                ],
                "gene_symbol": "SDHA",
                "hgnc_symbol": "SDHA",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:218356-256815",
                            "ensembl_id": "ENSG00000073578"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:218241-256700",
                            "ensembl_id": "ENSG00000073578"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-10-24"
            },
            "penetrance": null,
            "phenotypes": [
                "Mitochondrial respiratory chain complex II deficiency, 252011",
                "Leigh syndrome, 256000"
            ],
            "transcript": null,
            "entity_name": "SDHA",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "NHS GMS"
            ],
            "gene_data": {
                "alias": [
                    "LYRM8"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:33867",
                "gene_name": "succinate dehydrogenase complex assembly factor 1",
                "omim_gene": [
                    "612848"
                ],
                "alias_name": [
                    "LYR motif containing 8"
                ],
                "gene_symbol": "SDHAF1",
                "hgnc_symbol": "SDHAF1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:36486090-36487220",
                            "ensembl_id": "ENSG00000205138"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:35995199-35996315",
                            "ensembl_id": "ENSG00000205138"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2009-05-27"
            },
            "penetrance": null,
            "phenotypes": [
                "Mitochondrial respiratory chain complex II deficiency, 252011"
            ],
            "transcript": null,
            "entity_name": "SDHAF1",
            "entity_type": "gene",
            "publications": [
                "19465911",
                "22995659",
                "26642834"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "NHS GMS"
            ],
            "gene_data": {
                "alias": [
                    "cybS"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10683",
                "gene_name": "succinate dehydrogenase complex subunit D",
                "omim_gene": [
                    "602690"
                ],
                "alias_name": [
                    "small subunit of cytochrome b"
                ],
                "gene_symbol": "SDHD",
                "hgnc_symbol": "SDHD",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:111957497-111990353",
                            "ensembl_id": "ENSG00000204370"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:112086773-112120013",
                            "ensembl_id": "ENSG00000204370"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-10-21"
            },
            "penetrance": null,
            "phenotypes": [
                "Mitochondrial respiratory chain complex II deficiency, 252011"
            ],
            "transcript": null,
            "entity_name": "SDHD",
            "entity_type": "gene",
            "publications": [
                "24367056",
                "26008905"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "NHS GMS"
            ],
            "gene_data": {
                "alias": [
                    "FLJ20487",
                    "SDH5"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26034",
                "gene_name": "succinate dehydrogenase complex assembly factor 2",
                "omim_gene": [
                    "613019"
                ],
                "alias_name": null,
                "gene_symbol": "SDHAF2",
                "hgnc_symbol": "SDHAF2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:61197514-61215001",
                            "ensembl_id": "ENSG00000167985"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:61430042-61447529",
                            "ensembl_id": "ENSG00000167985"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2009-08-10"
            },
            "penetrance": null,
            "phenotypes": [
                "No OMIM phenotype"
            ],
            "transcript": null,
            "entity_name": "SDHAF2",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "2",
            "mode_of_inheritance": "Unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "NHS GMS"
            ],
            "gene_data": {
                "alias": [
                    "DC11",
                    "Sdh7",
                    "LYRM10"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21752",
                "gene_name": "succinate dehydrogenase complex assembly factor 3",
                "omim_gene": [
                    "615773"
                ],
                "alias_name": null,
                "gene_symbol": "SDHAF3",
                "hgnc_symbol": "SDHAF3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:96745902-96811075",
                            "ensembl_id": "ENSG00000196636"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:97116590-97181763",
                            "ensembl_id": "ENSG00000196636"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2015-02-27"
            },
            "penetrance": null,
            "phenotypes": [
                "No OMIM phenotype"
            ],
            "transcript": null,
            "entity_name": "SDHAF3",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "2",
            "mode_of_inheritance": "Unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "NHS GMS"
            ],
            "gene_data": {
                "alias": [
                    "Sdh8"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:20957",
                "gene_name": "succinate dehydrogenase complex assembly factor 4",
                "omim_gene": null,
                "alias_name": null,
                "gene_symbol": "SDHAF4",
                "hgnc_symbol": "SDHAF4",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:71276620-71299272",
                            "ensembl_id": "ENSG00000154079"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:70566917-70589569",
                            "ensembl_id": "ENSG00000154079"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2015-02-27"
            },
            "penetrance": null,
            "phenotypes": [
                "No OMIM phenotype"
            ],
            "transcript": null,
            "entity_name": "SDHAF4",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "2",
            "mode_of_inheritance": "Unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "NHS GMS"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10681",
                "gene_name": "succinate dehydrogenase complex iron sulfur subunit B",
                "omim_gene": [
                    "185470"
                ],
                "alias_name": [
                    "iron-sulfur subunit of complex II",
                    "succinate dehydrogenase [ubiquinone] iron-sulfur subunit"
                ],
                "gene_symbol": "SDHB",
                "hgnc_symbol": "SDHB",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:17345217-17380665",
                            "ensembl_id": "ENSG00000117118"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:17018722-17054170",
                            "ensembl_id": "ENSG00000117118"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": null,
            "phenotypes": [
                "No OMIM phenotype"
            ],
            "transcript": null,
            "entity_name": "SDHB",
            "entity_type": "gene",
            "publications": [
                "22972948"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "NHS GMS"
            ],
            "gene_data": {
                "alias": [
                    "CYB560",
                    "cybL"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10682",
                "gene_name": "succinate dehydrogenase complex subunit C",
                "omim_gene": [
                    "602413"
                ],
                "alias_name": [
                    "succinate dehydrogenase cytochrome b560 subunit",
                    "succinate dehydrgenase cytochrome b",
                    "large subunit of cytochrome b"
                ],
                "gene_symbol": "SDHC",
                "hgnc_symbol": "SDHC",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:161284047-161332984",
                            "ensembl_id": "ENSG00000143252"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:161314257-161375340",
                            "ensembl_id": "ENSG00000143252"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-10-21"
            },
            "penetrance": null,
            "phenotypes": [
                "No OMIM phenotype"
            ],
            "transcript": null,
            "entity_name": "SDHC",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "2",
            "mode_of_inheritance": "Unknown",
            "mode_of_pathogenicity": ""
        }
    ],
    "stats": {
        "number_of_strs": 0,
        "number_of_genes": 8,
        "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": "2020-02-17T15:54:04.601151Z",
    "disease_sub_group": "",
    "relevant_disorders": [
        "R354"
    ],
    "signed_off": "2020-02-17"
}