GET /api/v1/panels/526/?version=1.3
HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept

{
    "id": 526,
    "name": "Neuronal ceroid lipofuscinosis",
    "strs": [],
    "genes": [
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "NHS GMS",
                "London North GLH"
            ],
            "gene_data": {
                "alias": [
                    "HSA9947",
                    "CLN12"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:30213",
                "gene_name": "ATPase 13A2",
                "omim_gene": [
                    "610513"
                ],
                "alias_name": null,
                "gene_symbol": "ATP13A2",
                "hgnc_symbol": "ATP13A2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:17312453-17338423",
                            "ensembl_id": "ENSG00000159363"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:16985958-17011928",
                            "ensembl_id": "ENSG00000159363"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-01-12"
            },
            "penetrance": null,
            "phenotypes": [],
            "transcript": null,
            "entity_name": "ATP13A2",
            "entity_type": "gene",
            "publications": [
                "21362476",
                "22388936"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "London North GLH",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "JNCL",
                    "BTN1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2074",
                "gene_name": "CLN3, battenin",
                "omim_gene": [
                    "607042"
                ],
                "alias_name": [
                    "juvenile neuronal ceroid lipofuscinosis"
                ],
                "gene_symbol": "CLN3",
                "hgnc_symbol": "CLN3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:28477983-28506896",
                            "ensembl_id": "ENSG00000188603"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:28474111-28495575",
                            "ensembl_id": "ENSG00000188603"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1989-06-06"
            },
            "penetrance": null,
            "phenotypes": [],
            "transcript": null,
            "entity_name": "CLN3",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "London North GLH",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2076",
                "gene_name": "CLN5, intracellular trafficking protein",
                "omim_gene": [
                    "608102"
                ],
                "alias_name": null,
                "gene_symbol": "CLN5",
                "hgnc_symbol": "CLN5",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "13:77564795-77576652",
                            "ensembl_id": "ENSG00000102805"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "13:76990660-77019143",
                            "ensembl_id": "ENSG00000102805"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-11-03"
            },
            "penetrance": null,
            "phenotypes": [],
            "transcript": null,
            "entity_name": "CLN5",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "London North GLH",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "FLJ20561",
                    "HsT18960",
                    "nclf"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2077",
                "gene_name": "CLN6, transmembrane ER protein",
                "omim_gene": [
                    "606725"
                ],
                "alias_name": null,
                "gene_symbol": "CLN6",
                "hgnc_symbol": "CLN6",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:68499330-68549549",
                            "ensembl_id": "ENSG00000128973"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:68206992-68257211",
                            "ensembl_id": "ENSG00000128973"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1996-10-11"
            },
            "penetrance": null,
            "phenotypes": [],
            "transcript": null,
            "entity_name": "CLN6",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "London North GLH",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "FLJ39417"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2079",
                "gene_name": "CLN8, transmembrane ER and ERGIC protein",
                "omim_gene": [
                    "607837"
                ],
                "alias_name": null,
                "gene_symbol": "CLN8",
                "hgnc_symbol": "CLN8",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:1703944-1734738",
                            "ensembl_id": "ENSG00000182372"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "8:1755778-1801711",
                            "ensembl_id": "ENSG00000182372"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-12-15"
            },
            "penetrance": null,
            "phenotypes": [],
            "transcript": null,
            "entity_name": "CLN8",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "London North GLH",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "CLN10"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2529",
                "gene_name": "cathepsin D",
                "omim_gene": [
                    "116840"
                ],
                "alias_name": [
                    "ceroid-lipofuscinosis, neuronal 10"
                ],
                "gene_symbol": "CTSD",
                "hgnc_symbol": "CTSD",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:1773982-1785222",
                            "ensembl_id": "ENSG00000117984"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:1752752-1764573",
                            "ensembl_id": "ENSG00000117984"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "penetrance": null,
            "phenotypes": [],
            "transcript": null,
            "entity_name": "CTSD",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "London North GLH",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "CATSF",
                    "CLN13"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2531",
                "gene_name": "cathepsin F",
                "omim_gene": [
                    "603539"
                ],
                "alias_name": null,
                "gene_symbol": "CTSF",
                "hgnc_symbol": "CTSF",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:66330934-66336312",
                            "ensembl_id": "ENSG00000174080"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:66563463-66568841",
                            "ensembl_id": "ENSG00000174080"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-12-17"
            },
            "penetrance": null,
            "phenotypes": [],
            "transcript": null,
            "entity_name": "CTSF",
            "entity_type": "gene",
            "publications": [
                "23297359",
                "25274848"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "London North GLH",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "FLJ00118",
                    "FLJ13070",
                    "DNAJC5A"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:16235",
                "gene_name": "DnaJ heat shock protein family (Hsp40) member C5",
                "omim_gene": [
                    "611203"
                ],
                "alias_name": null,
                "gene_symbol": "DNAJC5",
                "hgnc_symbol": "DNAJC5",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "20:62526518-62567384",
                            "ensembl_id": "ENSG00000101152"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "20:63895182-63936031",
                            "ensembl_id": "ENSG00000101152"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-07-17"
            },
            "penetrance": null,
            "phenotypes": [],
            "transcript": null,
            "entity_name": "DNAJC5",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "London North GLH",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "FLJ32069",
                    "EPM3",
                    "CLN14"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21957",
                "gene_name": "potassium channel tetramerization domain containing 7",
                "omim_gene": [
                    "611725"
                ],
                "alias_name": null,
                "gene_symbol": "KCTD7",
                "hgnc_symbol": "KCTD7",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:66093868-66276446",
                            "ensembl_id": "ENSG00000243335"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:66628767-66649067",
                            "ensembl_id": "ENSG00000243335"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-10-28"
            },
            "penetrance": null,
            "phenotypes": [],
            "transcript": null,
            "entity_name": "KCTD7",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "London North GLH",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "MGC33302"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:28486",
                "gene_name": "major facilitator superfamily domain containing 8",
                "omim_gene": [
                    "611124"
                ],
                "alias_name": null,
                "gene_symbol": "MFSD8",
                "hgnc_symbol": "MFSD8",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:128838960-128887150",
                            "ensembl_id": "ENSG00000164073"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:127917732-127966034",
                            "ensembl_id": "ENSG00000164073"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-02-19"
            },
            "penetrance": null,
            "phenotypes": [],
            "transcript": null,
            "entity_name": "MFSD8",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "London North GLH",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "CLN1",
                    "INCL"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9325",
                "gene_name": "palmitoyl-protein thioesterase 1",
                "omim_gene": [
                    "600722"
                ],
                "alias_name": [
                    "ceroid-lipofuscinosis, neuronal 1, infantile"
                ],
                "gene_symbol": "PPT1",
                "hgnc_symbol": "PPT1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:40538379-40563375",
                            "ensembl_id": "ENSG00000131238"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:40071461-40097727",
                            "ensembl_id": "ENSG00000131238"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-06-09"
            },
            "penetrance": null,
            "phenotypes": [],
            "transcript": null,
            "entity_name": "PPT1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "London North GLH",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2073",
                "gene_name": "tripeptidyl peptidase 1",
                "omim_gene": [
                    "607998"
                ],
                "alias_name": [
                    "TPP I"
                ],
                "gene_symbol": "TPP1",
                "hgnc_symbol": "TPP1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:6634000-6640692",
                            "ensembl_id": "ENSG00000166340"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:6612763-6619461",
                            "ensembl_id": "ENSG00000166340"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-12-10"
            },
            "penetrance": null,
            "phenotypes": [],
            "transcript": null,
            "entity_name": "TPP1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Amber",
                "London North GLH"
            ],
            "gene_data": {
                "alias": [
                    "PCDGF",
                    "PGRN",
                    "CLN11"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4601",
                "gene_name": "granulin precursor",
                "omim_gene": [
                    "138945"
                ],
                "alias_name": [
                    "progranulin"
                ],
                "gene_symbol": "GRN",
                "hgnc_symbol": "GRN",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:42422614-42430470",
                            "ensembl_id": "ENSG00000030582"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:44345086-44353102",
                            "ensembl_id": "ENSG00000030582"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-11-30"
            },
            "penetrance": null,
            "phenotypes": [],
            "transcript": null,
            "entity_name": "GRN",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "NHS GMS",
                "London North GLH"
            ],
            "gene_data": {
                "alias": [
                    "CLC-6",
                    "KIAA0046",
                    "ClC-6"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2024",
                "gene_name": "chloride voltage-gated channel 6",
                "omim_gene": [
                    "602726"
                ],
                "alias_name": null,
                "gene_symbol": "CLCN6",
                "hgnc_symbol": "CLCN6",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:11866207-11903201",
                            "ensembl_id": "ENSG00000011021"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:11806096-11843144",
                            "ensembl_id": "ENSG00000011021"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-04-21"
            },
            "penetrance": null,
            "phenotypes": [],
            "transcript": null,
            "entity_name": "CLCN6",
            "entity_type": "gene",
            "publications": [
                "29667327",
                "26658788",
                "25794116"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "Unknown",
            "mode_of_pathogenicity": ""
        }
    ],
    "stats": {
        "number_of_strs": 0,
        "number_of_genes": 14,
        "number_of_regions": 0
    },
    "types": [
        {
            "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": null,
    "regions": [],
    "version": "1.3",
    "disease_group": "",
    "version_created": "2020-02-17T16:38:58.728553Z",
    "disease_sub_group": "",
    "relevant_disorders": [
        "R231"
    ],
    "signed_off": "2020-10-15"
}