Search STRs

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{
    "count": 190,
    "next": "https://panelapp.genomicsengland.co.uk/api/v1/strs/?page=2",
    "previous": null,
    "results": [
        {
            "gene_data": {
                "alias": [
                    "RNF163",
                    "ZCCHC22",
                    "CNBP1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13164",
                "gene_name": "CCHC-type zinc finger nucleic acid binding protein",
                "omim_gene": [
                    "116955"
                ],
                "alias_name": null,
                "gene_symbol": "CNBP",
                "hgnc_symbol": "CNBP",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:128888327-128902765",
                            "ensembl_id": "ENSG00000169714"
                        }
                    },
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                            "location": "3:129169484-129183922",
                            "ensembl_id": "ENSG00000169714"
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                    }
                },
                "hgnc_date_symbol_changed": "2006-06-29"
            },
            "entity_type": "str",
            "entity_name": "CNBP_CCTG",
            "confidence_level": "1",
            "penetrance": null,
            "publications": [],
            "evidence": [
                "Expert list"
            ],
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                "Myotonic dystrophy 2 602668"
            ],
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            "chromosome": "3",
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            "pathogenic_repeats": 75,
            "tags": [
                "NGS Not Validated",
                "STR"
            ],
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                "id": 229,
                "hash_id": "55c4a3ed22c1fc0fe5e416e9",
                "name": "Skeletal Muscle Channelopathies",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Channelopathies",
                "status": "public",
                "version": "1.21",
                "version_created": "2019-11-08T15:10:01.420909Z",
                "relevant_disorders": [],
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                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "alias": [
                    "DMK",
                    "DM1PK",
                    "MDPK",
                    "MT-PK"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2933",
                "gene_name": "DM1 protein kinase",
                "omim_gene": [
                    "605377"
                ],
                "alias_name": [
                    "dystrophia myotonica 1",
                    "DM protein kinase",
                    "myotonin protein kinase A",
                    "myotonic dystrophy associated protein kinase",
                    "thymopoietin homolog"
                ],
                "gene_symbol": "DMPK",
                "hgnc_symbol": "DMPK",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:46272975-46285810",
                            "ensembl_id": "ENSG00000104936"
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                    },
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                            "location": "19:45769717-45782552",
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                    }
                },
                "hgnc_date_symbol_changed": "1997-10-10"
            },
            "entity_type": "str",
            "entity_name": "DMPK_CTG",
            "confidence_level": "3",
            "penetrance": null,
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Myotonic dystrophy 1 160900"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "repeated_sequence": "CTG",
            "chromosome": "19",
            "grch37_coordinates": [
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                "STR"
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            "panel": {
                "id": 229,
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                "name": "Skeletal Muscle Channelopathies",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Channelopathies",
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                "version": "1.21",
                "version_created": "2019-11-08T15:10:01.420909Z",
                "relevant_disorders": [],
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                    "number_of_regions": 0
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                    {
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                        "slug": "rare-disease-100k",
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                ]
            }
        },
        {
            "gene_data": {
                "alias": [
                    "DMK",
                    "DM1PK",
                    "MDPK",
                    "MT-PK"
                ],
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                "hgnc_id": "HGNC:2933",
                "gene_name": "DM1 protein kinase",
                "omim_gene": [
                    "605377"
                ],
                "alias_name": [
                    "dystrophia myotonica 1",
                    "DM protein kinase",
                    "myotonin protein kinase A",
                    "myotonic dystrophy associated protein kinase",
                    "thymopoietin homolog"
                ],
                "gene_symbol": "DMPK",
                "hgnc_symbol": "DMPK",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "19:46272975-46285810",
                            "ensembl_id": "ENSG00000104936"
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                    },
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                            "location": "19:45769717-45782552",
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                    }
                },
                "hgnc_date_symbol_changed": "1997-10-10"
            },
            "entity_type": "str",
            "entity_name": "DMPK_CTG",
            "confidence_level": "1",
            "penetrance": null,
            "publications": [],
            "evidence": [
                "Expert list"
            ],
            "phenotypes": [
                "Myotonic dystrophy 1 160900"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "repeated_sequence": "CTG",
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            "grch37_coordinates": [
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            "tags": [
                "STR"
            ],
            "panel": {
                "id": 144,
                "hash_id": "5763f4868f620350a199604f",
                "name": "Fetal hydrops",
                "disease_group": "Dysmorphic and congenital abnormality syndromes",
                "disease_sub_group": "Fetal disorders",
                "status": "public",
                "version": "1.16",
                "version_created": "2018-12-05T18:38:09.145885Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 67,
                    "number_of_strs": 1,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "alias": [
                    "RNF163",
                    "ZCCHC22",
                    "CNBP1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13164",
                "gene_name": "CCHC-type zinc finger nucleic acid binding protein",
                "omim_gene": [
                    "116955"
                ],
                "alias_name": null,
                "gene_symbol": "CNBP",
                "hgnc_symbol": "CNBP",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:128888327-128902765",
                            "ensembl_id": "ENSG00000169714"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:129169484-129183922",
                            "ensembl_id": "ENSG00000169714"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-06-29"
            },
            "entity_type": "str",
            "entity_name": "CNBP_CCTG",
            "confidence_level": "1",
            "penetrance": null,
            "publications": [],
            "evidence": [
                "Expert list"
            ],
            "phenotypes": [
                "Myotonic dystrophy 2 602668"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "repeated_sequence": "CAGG",
            "chromosome": "3",
            "grch37_coordinates": [
                128891420,
                128891499
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            "grch38_coordinates": [
                129172577,
                129172656
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            "normal_repeats": 26,
            "pathogenic_repeats": 75,
            "tags": [
                "NGS Not Validated",
                "STR"
            ],
            "panel": {
                "id": 235,
                "hash_id": "55b7a0bb22c1fc05fd2345d1",
                "name": "Distal myopathies",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Neuromuscular disorders",
                "status": "public",
                "version": "1.11",
                "version_created": "2019-06-20T15:15:01.364887Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 27,
                    "number_of_strs": 2,
                    "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."
                    }
                ]
            }
        },
        {
            "gene_data": {
                "alias": [
                    "AIS",
                    "NR3C4",
                    "SMAX1",
                    "HUMARA"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:644",
                "gene_name": "androgen receptor",
                "omim_gene": [
                    "313700"
                ],
                "alias_name": [
                    "testicular feminization",
                    "Kennedy disease"
                ],
                "gene_symbol": "AR",
                "hgnc_symbol": "AR",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:66764465-66950461",
                            "ensembl_id": "ENSG00000169083"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:67544032-67730619",
                            "ensembl_id": "ENSG00000169083"
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                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "str",
            "entity_name": "AR_CAG",
            "confidence_level": "3",
            "penetrance": null,
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Spinal and bulbar muscular atrophy or Kennedy diseases 313200"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
            "repeated_sequence": "CAG",
            "chromosome": "X",
            "grch37_coordinates": [
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                66765225
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            "grch38_coordinates": [
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                "STR"
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            "panel": {
                "id": 235,
                "hash_id": "55b7a0bb22c1fc05fd2345d1",
                "name": "Distal myopathies",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Neuromuscular disorders",
                "status": "public",
                "version": "1.11",
                "version_created": "2019-06-20T15:15:01.364887Z",
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                    "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."
                    }
                ]
            }
        },
        {
            "gene_data": {
                "alias": [
                    "ATX3",
                    "JOS"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7106",
                "gene_name": "ataxin 3",
                "omim_gene": [
                    "607047"
                ],
                "alias_name": null,
                "gene_symbol": "ATXN3",
                "hgnc_symbol": "ATXN3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:92524896-92572965",
                            "ensembl_id": "ENSG00000066427"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "14:92038652-92106621",
                            "ensembl_id": "ENSG00000066427"
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                    }
                },
                "hgnc_date_symbol_changed": "2004-08-13"
            },
            "entity_type": "str",
            "entity_name": "ATXN3_CAG",
            "confidence_level": "3",
            "penetrance": null,
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Expert list"
            ],
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                "Machado-Joseph disease 109150"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "repeated_sequence": "CAG",
            "chromosome": "14",
            "grch37_coordinates": [
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                "STR"
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                "id": 39,
                "hash_id": "58078e6e8f62030e233a8157",
                "name": "Parkinson Disease and Complex Parkinsonism",
                "disease_group": "Neurology and neurodevelopmental disorders",
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                "version": "1.66",
                "version_created": "2019-06-20T15:15:15.111993Z",
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                    "Complex Parkinsonism (includes pallido-pyramidal syndromes)",
                    "Early onset and familial Parkinson's Disease"
                ],
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                    "number_of_strs": 9,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "alias": [
                    "IT15"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4851",
                "gene_name": "huntingtin",
                "omim_gene": [
                    "613004"
                ],
                "alias_name": null,
                "gene_symbol": "HTT",
                "hgnc_symbol": "HTT",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:3076408-3245676",
                            "ensembl_id": "ENSG00000197386"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "4:3074681-3243959",
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                },
                "hgnc_date_symbol_changed": "2007-12-04"
            },
            "entity_type": "str",
            "entity_name": "HTT_CAG",
            "confidence_level": "3",
            "penetrance": null,
            "publications": [
                "24256063"
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                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Huntington disease 143100"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "repeated_sequence": "CAG",
            "chromosome": "4",
            "grch37_coordinates": [
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            "tags": [
                "STR",
                "anticipation"
            ],
            "panel": {
                "id": 39,
                "hash_id": "58078e6e8f62030e233a8157",
                "name": "Parkinson Disease and Complex Parkinsonism",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Neurodegenerative disorders",
                "status": "public",
                "version": "1.66",
                "version_created": "2019-06-20T15:15:15.111993Z",
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                    "Complex Parkinsonism (includes pallido-pyramidal syndromes)",
                    "Early onset and familial Parkinson's Disease"
                ],
                "stats": {
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                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "alias": [
                    "PR55-BETA",
                    "PR52B",
                    "B55beta"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9305",
                "gene_name": "protein phosphatase 2 regulatory subunit Bbeta",
                "omim_gene": [
                    "604325"
                ],
                "alias_name": [
                    "PP2A subunit B isoform beta"
                ],
                "gene_symbol": "PPP2R2B",
                "hgnc_symbol": "PPP2R2B",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:145967936-146464347",
                            "ensembl_id": "ENSG00000156475"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "5:146581146-147084784",
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                    }
                },
                "hgnc_date_symbol_changed": "1993-01-25"
            },
            "entity_type": "str",
            "entity_name": "PPP2R2B_CAG",
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                "Expert Review Green",
                "Expert Review"
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                "Spinocerebellar ataxia 12 604326"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "repeated_sequence": "CAG",
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                "id": 39,
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                    "number_of_strs": 9,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
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                    }
                ]
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        },
        {
            "gene_data": {
                "alias": [
                    "D6S504E",
                    "ATX1"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10548",
                "gene_name": "ataxin 1",
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                "ensembl_genes": {
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                            "location": "6:16299343-16761722",
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            },
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                "Expert Review Green",
                "Expert Review"
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                "Spinocerebellar ataxia 1 164400"
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                "id": 39,
                "hash_id": "58078e6e8f62030e233a8157",
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