GET /api/v1/panels/724/?version=1.5
HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept

{
    "id": 724,
    "name": "Neurological ciliopathies",
    "strs": [],
    "genes": [
        {
            "tags": [],
            "evidence": [
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "FLJ20069",
                    "ORF1",
                    "JBTS3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21575",
                "gene_name": "Abelson helper integration site 1",
                "omim_gene": [
                    "608894"
                ],
                "alias_name": [
                    "Jouberin"
                ],
                "gene_symbol": "AHI1",
                "hgnc_symbol": "AHI1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:135604670-135818914",
                            "ensembl_id": "ENSG00000135541"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:135283532-135497776",
                            "ensembl_id": "ENSG00000135541"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-08-22"
            },
            "penetrance": null,
            "phenotypes": [
                "Joubert syndrome 3",
                "Joubert syndrome",
                "Joubert syndrome-3."
            ],
            "transcript": null,
            "entity_name": "AHI1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "DKFZp761H079",
                    "JBTS8"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25419",
                "gene_name": "ADP ribosylation factor like GTPase 13B",
                "omim_gene": [
                    "608922"
                ],
                "alias_name": null,
                "gene_symbol": "ARL13B",
                "hgnc_symbol": "ARL13B",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:93698983-93774512",
                            "ensembl_id": "ENSG00000169379"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:93980139-94055668",
                            "ensembl_id": "ENSG00000169379"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-11-18"
            },
            "penetrance": null,
            "phenotypes": [
                "Joubert syndrome 8"
            ],
            "transcript": null,
            "entity_name": "ARL13B",
            "entity_type": "gene",
            "publications": [
                "18674751",
                "25138100"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "FLJ12584",
                    "KIAA1868",
                    "ARM",
                    "KU-MEL-1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:20730",
                "gene_name": "armadillo repeat containing 9",
                "omim_gene": [
                    "617612"
                ],
                "alias_name": null,
                "gene_symbol": "ARMC9",
                "hgnc_symbol": "ARMC9",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:232063260-232239548",
                            "ensembl_id": "ENSG00000135931"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:231198546-231374837",
                            "ensembl_id": "ENSG00000135931"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-10-04"
            },
            "penetrance": null,
            "phenotypes": [
                "Joubert syndrome 30, 617622"
            ],
            "transcript": null,
            "entity_name": "ARMC9",
            "entity_type": "gene",
            "publications": [
                "28625504"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "MGC4093",
                    "MKS10"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:28636",
                "gene_name": "B9 domain containing 2",
                "omim_gene": [
                    "611951"
                ],
                "alias_name": null,
                "gene_symbol": "B9D2",
                "hgnc_symbol": "B9D2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:41860326-41870078",
                            "ensembl_id": "ENSG00000123810"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:41354421-41364173",
                            "ensembl_id": "ENSG00000123810"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-08-21"
            },
            "penetrance": null,
            "phenotypes": [
                "Joubert syndrome",
                "Meckel syndrome 10, 614175",
                "ciliopathies",
                "Meckel syndrome"
            ],
            "transcript": null,
            "entity_name": "B9D2",
            "entity_type": "gene",
            "publications": [
                "21763481 - two affected fetuses form the same family displayed overlapping phenotypes including cystic kidneys, ductal plate malformation, polydactyly, and occipital encephalocele. Homozygous variant identified in this gene, which was not present in the unaffected son. Homozygous variants were not identified in other known Meckel syndrome genes",
                "26092869 - two further cases with Joubert syndrome reported from two different families"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "DKFZP586P0123"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:24564",
                "gene_name": "C2 calcium dependent domain containing 3",
                "omim_gene": [
                    "615944"
                ],
                "alias_name": null,
                "gene_symbol": "C2CD3",
                "hgnc_symbol": "C2CD3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:73723763-73882255",
                            "ensembl_id": "ENSG00000168014"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:74012714-74171210",
                            "ensembl_id": "ENSG00000168014"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-10-17"
            },
            "penetrance": null,
            "phenotypes": [
                "short-rib polydactyly syndromes (SRPS",
                "MIM208500)",
                "MIM 613091, 263520), Jeune asphyxiating thoracic dystrophy (JATD",
                "?Orofaciodigital syndrome XIV, 615948",
                "Orofaciodigital syndromes (OFDS, MIM 311200)"
            ],
            "transcript": null,
            "entity_name": "C2CD3",
            "entity_type": "gene",
            "publications": [
                "24997988",
                "26044959",
                "27094867"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "new-gene-name"
            ],
            "evidence": [
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "FLJ13231",
                    "JBTS17",
                    "Hug"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25801",
                "gene_name": "chromosome 5 open reading frame 42",
                "omim_gene": [
                    "614571"
                ],
                "alias_name": null,
                "gene_symbol": "C5orf42",
                "hgnc_symbol": "C5orf42",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:37106330-37249530",
                            "ensembl_id": "ENSG00000197603"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:37106228-37249428",
                            "ensembl_id": "ENSG00000197603"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-12-13"
            },
            "penetrance": null,
            "phenotypes": [
                "Joubert syndrome",
                "Oral-facial-digital syndrome type VI",
                "Joubert syndrome 17"
            ],
            "transcript": null,
            "entity_name": "C5orf42",
            "entity_type": "gene",
            "publications": [
                "22693042",
                "25920555",
                "22425360"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "KIAA1345",
                    "MKS6",
                    "JBTS9"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29253",
                "gene_name": "coiled-coil and C2 domain containing 2A",
                "omim_gene": [
                    "612013"
                ],
                "alias_name": [
                    "Meckel syndrome, type 6"
                ],
                "gene_symbol": "CC2D2A",
                "hgnc_symbol": "CC2D2A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:15471489-15603180",
                            "ensembl_id": "ENSG00000048342"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:15469865-15601557",
                            "ensembl_id": "ENSG00000048342"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-10-19"
            },
            "penetrance": null,
            "phenotypes": [
                "Joubert syndrome 9",
                "COACH syndrome",
                "Joubert syndrome with oculorenal defect",
                "Meckel syndrome 6",
                "Meckel syndrome"
            ],
            "transcript": null,
            "entity_name": "CC2D2A",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "hcp-1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1857",
                "gene_name": "centromere protein F",
                "omim_gene": [
                    "600236"
                ],
                "alias_name": [
                    "mitosin"
                ],
                "gene_symbol": "CENPF",
                "hgnc_symbol": "CENPF",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:214776538-214837931",
                            "ensembl_id": "ENSG00000117724"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:214603195-214664588",
                            "ensembl_id": "ENSG00000117724"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-07-04"
            },
            "penetrance": null,
            "phenotypes": [
                "Stromme syndrome, 243605",
                "Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome"
            ],
            "transcript": null,
            "entity_name": "CENPF",
            "entity_type": "gene",
            "publications": [
                "26820108"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "GlyBP",
                    "RP1-286D6.4",
                    "CFAP256",
                    "ROC22",
                    "JBTS25"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:24866",
                "gene_name": "centrosomal protein 104",
                "omim_gene": [
                    "616690"
                ],
                "alias_name": [
                    "glycine, glutamate, thienylcyclohexylpiperidine binding protein"
                ],
                "gene_symbol": "CEP104",
                "hgnc_symbol": "CEP104",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:3728645-3773778",
                            "ensembl_id": "ENSG00000116198"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:3812081-3857214",
                            "ensembl_id": "ENSG00000116198"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2011-05-06"
            },
            "penetrance": null,
            "phenotypes": [
                "Joubert syndrome 25, 616781",
                "Joubert syndrome 25"
            ],
            "transcript": null,
            "entity_name": "CEP104",
            "entity_type": "gene",
            "publications": [
                "26477546"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "KIAA0373",
                    "FLJ13615",
                    "3H11Ag",
                    "rd16",
                    "NPHP6",
                    "JBTS5",
                    "SLSN6",
                    "LCA10",
                    "MKS4",
                    "BBS14",
                    "CT87",
                    "POC3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29021",
                "gene_name": "centrosomal protein 290",
                "omim_gene": [
                    "610142"
                ],
                "alias_name": [
                    "Joubert syndrome 5",
                    "nephrocystin-6",
                    "cancer/testis antigen 87",
                    "POC3 centriolar protein homolog (Chlamydomonas)",
                    "Meckel syndrome, type 4",
                    "Bardet-Biedl syndrome 14"
                ],
                "gene_symbol": "CEP290",
                "hgnc_symbol": "CEP290",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:88442793-88535993",
                            "ensembl_id": "ENSG00000198707"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:88049014-88142216",
                            "ensembl_id": "ENSG00000198707"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-02-20"
            },
            "penetrance": null,
            "phenotypes": [
                "610189",
                "Meckel syndrome 4",
                "Senior-Loken syndrome",
                "611755",
                "Joubert syndrome 5",
                "Joubert syndrome with oculorenal defect",
                "610188",
                "Senior-Loken syndrome 6",
                "611134",
                "Meckel syndrome"
            ],
            "transcript": null,
            "entity_name": "CEP290",
            "entity_type": "gene",
            "publications": [
                "20690115",
                "18327255"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "DKFZp762H1311",
                    "FLJ22445",
                    "JBTS15"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12370",
                "gene_name": "centrosomal protein 41",
                "omim_gene": [
                    "610523"
                ],
                "alias_name": null,
                "gene_symbol": "CEP41",
                "hgnc_symbol": "CEP41",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:130033612-130082274",
                            "ensembl_id": "ENSG00000106477"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:130393771-130442433",
                            "ensembl_id": "ENSG00000106477"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2011-10-04"
            },
            "penetrance": null,
            "phenotypes": [
                "Joubert syndrome 15"
            ],
            "transcript": null,
            "entity_name": "CEP41",
            "entity_type": "gene",
            "publications": [
                "22246503"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "FLJ38464",
                    "FLJ16786"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:18688",
                "gene_name": "crumbs 2, cell polarity complex component",
                "omim_gene": [
                    "609720"
                ],
                "alias_name": null,
                "gene_symbol": "CRB2",
                "hgnc_symbol": "CRB2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:126118449-126142603",
                            "ensembl_id": "ENSG00000148204"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:123356170-123380324",
                            "ensembl_id": "ENSG00000148204"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-03-19"
            },
            "penetrance": null,
            "phenotypes": [
                "Ventriculomegaly with cystic kidney disease 219730"
            ],
            "transcript": null,
            "entity_name": "CRB2",
            "entity_type": "gene",
            "publications": [
                "25557780"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "FLJ22490",
                    "CSPP",
                    "JBTS21"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26193",
                "gene_name": "centrosome and spindle pole associated protein 1",
                "omim_gene": [
                    "611654"
                ],
                "alias_name": null,
                "gene_symbol": "CSPP1",
                "hgnc_symbol": "CSPP1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:67974661-68108498",
                            "ensembl_id": "ENSG00000104218"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "8:67062426-67196263",
                            "ensembl_id": "ENSG00000104218"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-09-06"
            },
            "penetrance": null,
            "phenotypes": [
                "Joubert syndrome",
                "Meckel syndrome",
                "Joubert syndrome 21",
                "Meckel-Gruber syndrome"
            ],
            "transcript": null,
            "entity_name": "CSPP1",
            "entity_type": "gene",
            "publications": [
                "24360807",
                "24360803",
                "24360808"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "DKFZP564B1023",
                    "ZNHIT5"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25360",
                "gene_name": "DEAD-box helicase 59",
                "omim_gene": [
                    "615464"
                ],
                "alias_name": null,
                "gene_symbol": "DDX59",
                "hgnc_symbol": "DDX59",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:200593024-200639097",
                            "ensembl_id": "ENSG00000118197"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:200623896-200669969",
                            "ensembl_id": "ENSG00000118197"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-02-22"
            },
            "penetrance": null,
            "phenotypes": [
                "Orofaciodigital syndrome V, 174300"
            ],
            "transcript": null,
            "entity_name": "DDX59",
            "entity_type": "gene",
            "publications": [
                "29127725",
                "23972372",
                "28711741"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2860",
                "gene_name": "7-dehydrocholesterol reductase",
                "omim_gene": [
                    "602858"
                ],
                "alias_name": null,
                "gene_symbol": "DHCR7",
                "hgnc_symbol": "DHCR7",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:71139239-71163914",
                            "ensembl_id": "ENSG00000172893"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:71428193-71452868",
                            "ensembl_id": "ENSG00000172893"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-04-27"
            },
            "penetrance": null,
            "phenotypes": [
                "Smith-Lemli-Opitz syndrome   270400"
            ],
            "transcript": null,
            "entity_name": "DHCR7",
            "entity_type": "gene",
            "publications": [
                "9634533"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "DWF-1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3497",
                "gene_name": "EvC ciliary complex subunit 1",
                "omim_gene": [
                    "604831"
                ],
                "alias_name": null,
                "gene_symbol": "EVC",
                "hgnc_symbol": "EVC",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:5712924-5830772",
                            "ensembl_id": "ENSG00000072840"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:5711197-5814305",
                            "ensembl_id": "ENSG00000072840"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-04-24"
            },
            "penetrance": null,
            "phenotypes": [
                "Ellis-van Creveld syndrome, 225500",
                "Weyers acrodental dysostosis, 193530"
            ],
            "transcript": null,
            "entity_name": "EVC",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "LBN"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:19747",
                "gene_name": "EvC ciliary complex subunit 2",
                "omim_gene": [
                    "607261"
                ],
                "alias_name": [
                    "limbin"
                ],
                "gene_symbol": "EVC2",
                "hgnc_symbol": "EVC2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:5544499-5711275",
                            "ensembl_id": "ENSG00000173040"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:5542772-5709548",
                            "ensembl_id": "ENSG00000173040"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-04-11"
            },
            "penetrance": null,
            "phenotypes": [
                "Ellis-van Creveld syndrome, 225500",
                "Weyers acrofacial dysostosis, 193530"
            ],
            "transcript": null,
            "entity_name": "EVC2",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "PAP-A",
                    "PAPA",
                    "PAPA1",
                    "PAPB",
                    "ACLS",
                    "PPDIV"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4319",
                "gene_name": "GLI family zinc finger 3",
                "omim_gene": [
                    "165240"
                ],
                "alias_name": [
                    "zinc finger protein GLI3",
                    "oncogene GLI3",
                    "DNA-binding protein"
                ],
                "gene_symbol": "GLI3",
                "hgnc_symbol": "GLI3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:42000548-42277469",
                            "ensembl_id": "ENSG00000106571"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:41960950-42237870",
                            "ensembl_id": "ENSG00000106571"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1989-05-29"
            },
            "penetrance": null,
            "phenotypes": [
                "Joubert Syndrome and Senior-Loken Syndrome 24 gene panel"
            ],
            "transcript": null,
            "entity_name": "GLI3",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "FLJ32915"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26558",
                "gene_name": "HYLS1, centriolar and ciliogenesis associated",
                "omim_gene": [
                    "610693"
                ],
                "alias_name": null,
                "gene_symbol": "HYLS1",
                "hgnc_symbol": "HYLS1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:125753509-125770543",
                            "ensembl_id": "ENSG00000198331"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:125883614-125900648",
                            "ensembl_id": "ENSG00000198331"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-05-04"
            },
            "penetrance": null,
            "phenotypes": [
                "Joubert syndrome",
                "Hydrolethalus syndrome, 236680"
            ],
            "transcript": null,
            "entity_name": "HYLS1",
            "entity_type": "gene",
            "publications": [
                "26830932 - report in two siblings with Joubert syndrome",
                "19656802 - impairment in ciligenesis",
                "18648327 - Hydrolethalus syndrome",
                "15843405 - Hydrolethalus syndrome"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "new-gene-name"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert Review Green",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "MRK",
                    "LCK2",
                    "KIAA0936",
                    "MGC46090"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21219",
                "gene_name": "intestinal cell kinase",
                "omim_gene": [
                    "612325"
                ],
                "alias_name": [
                    "serine/threonine-protein kinase ICK",
                    "MAK-related kinase"
                ],
                "gene_symbol": "ICK",
                "hgnc_symbol": "ICK",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:52866077-52926600",
                            "ensembl_id": "ENSG00000112144"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:53001279-53061802",
                            "ensembl_id": "ENSG00000112144"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-08-21"
            },
            "penetrance": null,
            "phenotypes": [
                "short-rib thoracic dysplasia with polydactyly (SRTD)",
                "Endocrine-cerebroosteodysplasia, 612651",
                "ECO"
            ],
            "transcript": null,
            "entity_name": "ICK",
            "entity_type": "gene",
            "publications": [
                "19185282",
                "27069622",
                "27466187"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "PPI5PIV",
                    "CORS1",
                    "pharbin"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21474",
                "gene_name": "inositol polyphosphate-5-phosphatase E",
                "omim_gene": [
                    "613037"
                ],
                "alias_name": null,
                "gene_symbol": "INPP5E",
                "hgnc_symbol": "INPP5E",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:139323071-139334274",
                            "ensembl_id": "ENSG00000148384"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:136428619-136439823",
                            "ensembl_id": "ENSG00000148384"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-06-13"
            },
            "penetrance": null,
            "phenotypes": [
                "Joubert syndrome",
                "Joubert syndrome 1"
            ],
            "transcript": null,
            "entity_name": "INPP5E",
            "entity_type": "gene",
            "publications": [
                "23386033",
                "26748598"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "Talpid3",
                    "JBTS23"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:19960",
                "gene_name": "KIAA0586",
                "omim_gene": [
                    "610178"
                ],
                "alias_name": null,
                "gene_symbol": "KIAA0586",
                "hgnc_symbol": "KIAA0586",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:58894103-59015216",
                            "ensembl_id": "ENSG00000100578"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "14:58427385-58551289",
                            "ensembl_id": "ENSG00000100578"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-11-21"
            },
            "penetrance": null,
            "phenotypes": [
                "Joubert syndrome 23",
                "Joubert syndrome",
                "Short-rib thoracic dysplasia 14 with polydactyly",
                "Short-rib dysplasia 14 with polydactyly"
            ],
            "transcript": null,
            "entity_name": "KIAA0586",
            "entity_type": "gene",
            "publications": [
                "26096313"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "OFIP",
                    "MNR"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29110",
                "gene_name": "KIAA0753",
                "omim_gene": [
                    "617112"
                ],
                "alias_name": [
                    "moonraker",
                    "OFD1 and FOPNL interacting protein"
                ],
                "gene_symbol": "KIAA0753",
                "hgnc_symbol": "KIAA0753",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:6481468-6544247",
                            "ensembl_id": "ENSG00000198920"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:6578148-6640927",
                            "ensembl_id": "ENSG00000198920"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-12-13"
            },
            "penetrance": null,
            "phenotypes": [
                "Orofaciodigital syndrome XV   617127"
            ],
            "transcript": null,
            "entity_name": "KIAA0753",
            "entity_type": "gene",
            "publications": [
                "26643951"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "JBTS12"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:30497",
                "gene_name": "kinesin family member 7",
                "omim_gene": [
                    "611254"
                ],
                "alias_name": null,
                "gene_symbol": "KIF7",
                "hgnc_symbol": "KIF7",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:90152020-90198682",
                            "ensembl_id": "ENSG00000166813"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:89608789-89655451",
                            "ensembl_id": "ENSG00000166813"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-02-07"
            },
            "penetrance": null,
            "phenotypes": [
                "Joubert syndrome 12   200990",
                "Acrocallosal syndrome   200990"
            ],
            "transcript": null,
            "entity_name": "KIF7",
            "entity_type": "gene",
            "publications": [
                "21633164"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "FLJ20345",
                    "POC12",
                    "BBS13"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7121",
                "gene_name": "Meckel syndrome, type 1",
                "omim_gene": [
                    "609883"
                ],
                "alias_name": [
                    "POC12 centriolar protein homolog (Chlamydomonas)"
                ],
                "gene_symbol": "MKS1",
                "hgnc_symbol": "MKS1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:56282803-56296966",
                            "ensembl_id": "ENSG00000011143"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:58205437-58219605",
                            "ensembl_id": "ENSG00000011143"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-11-07"
            },
            "penetrance": null,
            "phenotypes": [
                "occipital encephalocele",
                "Joubert syndrome",
                "Bardet-Biedl syndrome",
                "Joubert syndrome 28",
                "249000",
                "polydactyly",
                "polycystic kidneys",
                "Meckel-Gruber syndrome",
                "Meckel syndrome",
                "renal fibrosis"
            ],
            "transcript": null,
            "entity_name": "MKS1",
            "entity_type": "gene",
            "publications": [
                "26490104",
                "17437276",
                "18327255",
                "24886560",
                "16415886"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": "Other - please provide details in the comments"
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "JBTS4",
                    "SLSN1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7905",
                "gene_name": "nephrocystin 1",
                "omim_gene": [
                    "607100"
                ],
                "alias_name": null,
                "gene_symbol": "NPHP1",
                "hgnc_symbol": "NPHP1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:110879888-110962643",
                            "ensembl_id": "ENSG00000144061"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:110122311-110205066",
                            "ensembl_id": "ENSG00000144061"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-08-08"
            },
            "penetrance": null,
            "phenotypes": [
                "Joubert syndrome 4",
                "Senior-Loken syndrome",
                "256100 Senior-Loken syndrome-1, 266900",
                "609583 Nephronophthisis 1, juvenile",
                "Nephronophthisis"
            ],
            "transcript": null,
            "entity_name": "NPHP1",
            "entity_type": "gene",
            "publications": [
                "15138899",
                "22982934",
                "15689444"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "NPH3",
                    "KIAA2000",
                    "FLJ30691",
                    "FLJ36696",
                    "MKS7",
                    "SLSN3",
                    "CFAP31"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7907",
                "gene_name": "nephrocystin 3",
                "omim_gene": [
                    "608002"
                ],
                "alias_name": [
                    "Meckel syndrome, type 7",
                    "cilia and flagella associated protein 31"
                ],
                "gene_symbol": "NPHP3",
                "hgnc_symbol": "NPHP3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:132276986-132441303",
                            "ensembl_id": "ENSG00000113971"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:132680609-132722442",
                            "ensembl_id": "ENSG00000113971"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-01-20"
            },
            "penetrance": null,
            "phenotypes": [
                "Renal-hepatic-pancreatic dysplasia",
                "Senior-Loken syndrome",
                "Nephronophthisis 3, 604387",
                "Meckel syndrome 7, 267010",
                "Renal-hepatic-pancreatic dysplasia 1, 208540",
                "Nephronophthisis"
            ],
            "transcript": null,
            "entity_name": "NPHP3",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "71-7A",
                    "JBTS10"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2567",
                "gene_name": "OFD1, centriole and centriolar satellite protein",
                "omim_gene": [
                    "300170"
                ],
                "alias_name": null,
                "gene_symbol": "OFD1",
                "hgnc_symbol": "OFD1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:13752832-13787480",
                            "ensembl_id": "ENSG00000046651"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:13734745-13769353",
                            "ensembl_id": "ENSG00000046651"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-10-01"
            },
            "penetrance": null,
            "phenotypes": [
                "Joubert syndrome 10",
                "X-linked Joubert syndrome",
                "Orofaciodigital syndrome I"
            ],
            "transcript": null,
            "entity_name": "OFD1",
            "entity_type": "gene",
            "publications": [
                "19800048",
                "22353940"
            ],
            "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": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "CDGS",
                    "CDG1a",
                    "PMI",
                    "PMI1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9115",
                "gene_name": "phosphomannomutase 2",
                "omim_gene": [
                    "601785"
                ],
                "alias_name": [
                    "phosphomannose isomerase 1",
                    "mannose-6-phosphate isomerase"
                ],
                "gene_symbol": "PMM2",
                "hgnc_symbol": "PMM2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:8882680-8943188",
                            "ensembl_id": "ENSG00000140650"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:8788823-8849331",
                            "ensembl_id": "ENSG00000140650"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-05-22"
            },
            "penetrance": null,
            "phenotypes": [
                "Congenital disorder of glycosylation, type Ia   212065"
            ],
            "transcript": null,
            "entity_name": "PMM2",
            "entity_type": "gene",
            "publications": [
                "9140401"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "KIAA1005",
                    "CORS3",
                    "JBTS7",
                    "MKS5",
                    "NPHP8",
                    "FTM",
                    "PPP1R134"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29168",
                "gene_name": "RPGRIP1 like",
                "omim_gene": [
                    "610937"
                ],
                "alias_name": [
                    "fantom homolog",
                    "Meckel syndrome, type 5",
                    "protein phosphatase 1, regulatory subunit 134"
                ],
                "gene_symbol": "RPGRIP1L",
                "hgnc_symbol": "RPGRIP1L",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:53631595-53737850",
                            "ensembl_id": "ENSG00000103494"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:53597683-53703938",
                            "ensembl_id": "ENSG00000103494"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-05-14"
            },
            "penetrance": null,
            "phenotypes": [
                "Joubert syndrome 7",
                "Meckel syndrome 5",
                "Joubert syndrome",
                "Meckel syndrome",
                "Meckel-Gruber syndrome"
            ],
            "transcript": null,
            "entity_name": "RPGRIP1L",
            "entity_type": "gene",
            "publications": [
                "17558409",
                "17558407",
                "19574260"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "hCAP-1A",
                    "FLJ30655"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26406",
                "gene_name": "sodium channel and clathrin linker 1",
                "omim_gene": [
                    "611399"
                ],
                "alias_name": null,
                "gene_symbol": "SCLT1",
                "hgnc_symbol": "SCLT1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:129786076-130014764",
                            "ensembl_id": "ENSG00000151466"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:128864921-129093607",
                            "ensembl_id": "ENSG00000151466"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-07-18"
            },
            "penetrance": null,
            "phenotypes": [
                "Oro-facio-digital syndrome type IX (Adly (2014) Hum Mutat 35,36)",
                "No OMIM phenotype"
            ],
            "transcript": null,
            "entity_name": "SCLT1",
            "entity_type": "gene",
            "publications": [
                "15797711"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "FLJ21127",
                    "TECT1",
                    "JBTS13"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26113",
                "gene_name": "tectonic family member 1",
                "omim_gene": [
                    "609863"
                ],
                "alias_name": null,
                "gene_symbol": "TCTN1",
                "hgnc_symbol": "TCTN1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:111051832-111087235",
                            "ensembl_id": "ENSG00000204852"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:110614027-110649430",
                            "ensembl_id": "ENSG00000204852"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-08-20"
            },
            "penetrance": null,
            "phenotypes": [
                "Joubert syndrome"
            ],
            "transcript": null,
            "entity_name": "TCTN1",
            "entity_type": "gene",
            "publications": [
                "20301500",
                "22693042",
                "26489806",
                "21725307",
                "26477546",
                "28631893"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "FLJ12975",
                    "TECT2",
                    "MKS8",
                    "JBTS24"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25774",
                "gene_name": "tectonic family member 2",
                "omim_gene": [
                    "613846"
                ],
                "alias_name": [
                    "Meckel syndrome, type 8"
                ],
                "gene_symbol": "TCTN2",
                "hgnc_symbol": "TCTN2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:124155660-124192948",
                            "ensembl_id": "ENSG00000168778"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:123671113-123708403",
                            "ensembl_id": "ENSG00000168778"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-08-20"
            },
            "penetrance": null,
            "phenotypes": [
                "Meckel syndrome",
                "Joubert syndrome 24",
                "Joubert syndrome, Meckel-Gruber syndrome"
            ],
            "transcript": null,
            "entity_name": "TCTN2",
            "entity_type": "gene",
            "publications": [
                "25118024",
                "21565611"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "DKFZP564D116",
                    "TECT3",
                    "JBTS18"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:24519",
                "gene_name": "tectonic family member 3",
                "omim_gene": [
                    "613847"
                ],
                "alias_name": null,
                "gene_symbol": "TCTN3",
                "hgnc_symbol": "TCTN3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:97423158-97453900",
                            "ensembl_id": "ENSG00000119977"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:95663396-95694143",
                            "ensembl_id": "ENSG00000119977"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-08-20"
            },
            "penetrance": null,
            "phenotypes": [
                "Joubert syndrome",
                "Orofaciodigital syndrome IV",
                "Joubert syndrome 18",
                "Meckel-Gruber",
                "Mohr-Majewski syndrome"
            ],
            "transcript": null,
            "entity_name": "TCTN3",
            "entity_type": "gene",
            "publications": [
                "25118024",
                "22883145"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "MGC10744"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:28128",
                "gene_name": "transmembrane protein 107",
                "omim_gene": [
                    "616183"
                ],
                "alias_name": null,
                "gene_symbol": "TMEM107",
                "hgnc_symbol": "TMEM107",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:8076555-8079717",
                            "ensembl_id": "ENSG00000179029"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:8173237-8176399",
                            "ensembl_id": "ENSG00000179029"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-12-19"
            },
            "penetrance": null,
            "phenotypes": [
                "Meckel syndrome 13 617562",
                "?Joubert syndrome 29 617562",
                "Orofaciodigital syndrome XVI 617563"
            ],
            "transcript": null,
            "entity_name": "TMEM107",
            "entity_type": "gene",
            "publications": [
                "26518474",
                "26123494",
                "22698544",
                "26595381"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "HSPC196",
                    "JBTS16"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26944",
                "gene_name": "transmembrane protein 138",
                "omim_gene": [
                    "614459"
                ],
                "alias_name": null,
                "gene_symbol": "TMEM138",
                "hgnc_symbol": "TMEM138",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:61129473-61136981",
                            "ensembl_id": "ENSG00000149483"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:61362001-61369509",
                            "ensembl_id": "ENSG00000149483"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-03-15"
            },
            "penetrance": null,
            "phenotypes": [
                "Joubert syndrome with oculorenal defect",
                "Joubert syndrome 16"
            ],
            "transcript": null,
            "entity_name": "TMEM138",
            "entity_type": "gene",
            "publications": [
                "22282472"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "MGC13379",
                    "HSPC244",
                    "JBTS2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25018",
                "gene_name": "transmembrane protein 216",
                "omim_gene": [
                    "613277"
                ],
                "alias_name": null,
                "gene_symbol": "TMEM216",
                "hgnc_symbol": "TMEM216",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:61159159-61166335",
                            "ensembl_id": "ENSG00000187049"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:61391687-61398863",
                            "ensembl_id": "ENSG00000187049"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2008-06-10"
            },
            "penetrance": null,
            "phenotypes": [
                "Joubert syndrome: Meckel-Gruber syndrome",
                "Joubert syndrome with oculorenal defect",
                "Meckel syndrome",
                "Joubert syndrome 2"
            ],
            "transcript": null,
            "entity_name": "TMEM216",
            "entity_type": "gene",
            "publications": [
                "22282472",
                "20036350",
                "20512146"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "FLJ22167",
                    "ALYE870",
                    "PRO1886",
                    "JBTS20",
                    "MKS11"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:37234",
                "gene_name": "transmembrane protein 231",
                "omim_gene": [
                    "614949"
                ],
                "alias_name": null,
                "gene_symbol": "TMEM231",
                "hgnc_symbol": "TMEM231",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:75572015-75590184",
                            "ensembl_id": "ENSG00000205084"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:75536744-75556286",
                            "ensembl_id": "ENSG00000205084"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2009-10-02"
            },
            "penetrance": null,
            "phenotypes": [
                "Meckel syndrome",
                "Joubert syndrome 20",
                "Joubert syndrome with oculorenal defect",
                "Joubert syndrome 20, 614970",
                "Meckel syndrome 11, 615397"
            ],
            "transcript": null,
            "entity_name": "TMEM231",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "JBTS14"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14432",
                "gene_name": "transmembrane protein 237",
                "omim_gene": [
                    "614423"
                ],
                "alias_name": null,
                "gene_symbol": "TMEM237",
                "hgnc_symbol": "TMEM237",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:202484907-202508293",
                            "ensembl_id": "ENSG00000155755"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:201620184-201643570",
                            "ensembl_id": "ENSG00000155755"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2011-05-20"
            },
            "penetrance": null,
            "phenotypes": [
                "Joubert syndrome",
                "Joubert syndrome with oculorenal defect",
                "Joubert syndrome 14"
            ],
            "transcript": null,
            "entity_name": "TMEM237",
            "entity_type": "gene",
            "publications": [
                "22152675",
                "20301500"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "MGC26979",
                    "JBTS6",
                    "NPHP11"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:28396",
                "gene_name": "transmembrane protein 67",
                "omim_gene": [
                    "609884"
                ],
                "alias_name": [
                    "Meckelin"
                ],
                "gene_symbol": "TMEM67",
                "hgnc_symbol": "TMEM67",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:94767072-94831462",
                            "ensembl_id": "ENSG00000164953"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "8:93754844-93819234",
                            "ensembl_id": "ENSG00000164953"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-08-04"
            },
            "penetrance": null,
            "phenotypes": [
                "Joubert syndrome",
                "nephronophthisis",
                "COACH syndrome",
                "Joubert syndrome 6",
                "?Bardet-Biedl syndrome?",
                "Senior-Boichis syndrome",
                "613550",
                "607361",
                "Meckel-Gruber syndrome",
                "Meckel syndrome",
                "610688",
                "Nephronophthisis 11",
                "216360"
            ],
            "transcript": null,
            "entity_name": "TMEM67",
            "entity_type": "gene",
            "publications": [
                "PMID: 16415887",
                "PMID: 17160906",
                "PMID: 19058225",
                "PMID: 19508969",
                "PMID: 20607301",
                "PMID: 18327255"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert Review Green",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "2310047H23Rik",
                    "FLJ22625"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:20652",
                "gene_name": "thioredoxin domain containing 15",
                "omim_gene": null,
                "alias_name": null,
                "gene_symbol": "TXNDC15",
                "hgnc_symbol": "TXNDC15",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:134209493-134237215",
                            "ensembl_id": "ENSG00000113621"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:134873803-134901525",
                            "ensembl_id": "ENSG00000113621"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-08-16"
            },
            "penetrance": null,
            "phenotypes": [
                "MGS",
                "Meckel-Gruber syndrome"
            ],
            "transcript": null,
            "entity_name": "TXNDC15",
            "entity_type": "gene",
            "publications": [
                "27894351"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2183",
                "gene_name": "vacuolar protein sorting 13 homolog B",
                "omim_gene": [
                    "607817"
                ],
                "alias_name": null,
                "gene_symbol": "VPS13B",
                "hgnc_symbol": "VPS13B",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:100025494-100889808",
                            "ensembl_id": "ENSG00000132549"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "8:99013266-99877580",
                            "ensembl_id": "ENSG00000132549"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-04-08"
            },
            "penetrance": null,
            "phenotypes": [
                "Cohen syndrome, 216550",
                "COHEN SYNDROME"
            ],
            "transcript": null,
            "entity_name": "VPS13B",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "KIAA1577"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29316",
                "gene_name": "zinc finger SWIM-type containing 6",
                "omim_gene": [
                    "615951"
                ],
                "alias_name": null,
                "gene_symbol": "ZSWIM6",
                "hgnc_symbol": "ZSWIM6",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:60628100-60841997",
                            "ensembl_id": "ENSG00000130449"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:61332273-61546170",
                            "ensembl_id": "ENSG00000130449"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-12-17"
            },
            "penetrance": null,
            "phenotypes": [
                "Acromelic frontonasal dysostosis   603671"
            ],
            "transcript": null,
            "entity_name": "ZSWIM6",
            "entity_type": "gene",
            "publications": [
                "25105228"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": "Other - please provide details in the comments"
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "Literature"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29162",
                "gene_name": "family with sequence similarity 149 member B1",
                "omim_gene": null,
                "alias_name": null,
                "gene_symbol": "FAM149B1",
                "hgnc_symbol": "FAM149B1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:74927924-75004262",
                            "ensembl_id": "ENSG00000138286"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:73168166-73244504",
                            "ensembl_id": "ENSG00000138286"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-11-14"
            },
            "penetrance": null,
            "phenotypes": [
                "Joubert syndrome",
                "oral-facial-digital syndrome",
                "OFD VI"
            ],
            "transcript": null,
            "entity_name": "FAM149B1",
            "entity_type": "gene",
            "publications": [
                "30905400"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": null
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "Expert Review Amber"
            ],
            "gene_data": {
                "alias": [
                    "TUWD12",
                    "FLJ14923"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:30836",
                "gene_name": "POC1 centriolar protein B",
                "omim_gene": [
                    "614784"
                ],
                "alias_name": null,
                "gene_symbol": "POC1B",
                "hgnc_symbol": "POC1B",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:89813495-89919801",
                            "ensembl_id": "ENSG00000139323"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:89419718-89526024",
                            "ensembl_id": "ENSG00000139323"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2010-03-26"
            },
            "penetrance": null,
            "phenotypes": [
                "Cone-rod dystrophy 20 615973, AUTOSOMAL-RECESSIVE CONE-ROD DYSTROPHY",
                "Joubert Syndrome",
                "Senior-Loken Syndrome"
            ],
            "transcript": null,
            "entity_name": "POC1B",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "Expert Review Amber",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "SUFUH",
                    "SUFUXL",
                    "PRO1280"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:16466",
                "gene_name": "SUFU negative regulator of hedgehog signaling",
                "omim_gene": [
                    "607035"
                ],
                "alias_name": null,
                "gene_symbol": "SUFU",
                "hgnc_symbol": "SUFU",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:104263744-104393292",
                            "ensembl_id": "ENSG00000107882"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:102503987-102633535",
                            "ensembl_id": "ENSG00000107882"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-08-28"
            },
            "penetrance": null,
            "phenotypes": [
                "Joubert syndrome 32, 617757"
            ],
            "transcript": null,
            "entity_name": "SUFU",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber"
            ],
            "gene_data": {
                "alias": [
                    "KIAA0760",
                    "OAZ",
                    "Roaz",
                    "Ebfaz",
                    "Zfp104",
                    "NPHP14",
                    "JBTS19"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:16762",
                "gene_name": "zinc finger protein 423",
                "omim_gene": [
                    "604557"
                ],
                "alias_name": [
                    "OLF-1/EBF associated zinc finger gene",
                    " Smad- and Olf-interacting zinc finger protein",
                    "early B-cell factor associated zinc finger protein"
                ],
                "gene_symbol": "ZNF423",
                "hgnc_symbol": "ZNF423",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:49521435-49891830",
                            "ensembl_id": "ENSG00000102935"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:49487524-49857919",
                            "ensembl_id": "ENSG00000102935"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-04-06"
            },
            "penetrance": null,
            "phenotypes": [
                "Nephronophthisis 14",
                "Joubert syndrome 19, 614844",
                "Joubert syndrome with oculorenal defect",
                "Joubert syndrome 19",
                "Nephronophthisis 14, 614844"
            ],
            "transcript": null,
            "entity_name": "ZNF423",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "2",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red"
            ],
            "gene_data": {
                "alias": [
                    "B9",
                    "EPPB9",
                    "MKS9"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:24123",
                "gene_name": "B9 domain containing 1",
                "omim_gene": [
                    "614144"
                ],
                "alias_name": [
                    "endothelial precursor protein B9"
                ],
                "gene_symbol": "B9D1",
                "hgnc_symbol": "B9D1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:19240867-19281495",
                            "ensembl_id": "ENSG00000108641"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:19337554-19378182",
                            "ensembl_id": "ENSG00000108641"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-08-21"
            },
            "penetrance": null,
            "phenotypes": [
                "?Meckel syndrome 9, 614209",
                "ciliopathies",
                "Meckel syndrome",
                "Joubert syndrome 27"
            ],
            "transcript": null,
            "entity_name": "B9D1",
            "entity_type": "gene",
            "publications": [
                "21493627 (case report, with an additional variant in the CEP290 gene suggesting oligogenetic inheritance)",
                "24886560 (2 cases with Joubert)",
                "25920555 (report a case with heterozygous mutations in CC2D2A and B9D1)"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Expert Review Red",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "FLJ36147",
                    "XTP7"
                ],
                "biotype": null,
                "hgnc_id": "HGNC:30162",
                "gene_name": "exocyst complex component 3 like 2",
                "omim_gene": [
                    "616927"
                ],
                "alias_name": null,
                "gene_symbol": "EXOC3L2",
                "hgnc_symbol": "EXOC3L2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:45715879-45737469",
                            "ensembl_id": "ENSG00000130201"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:45212621-45245431",
                            "ensembl_id": "ENSG00000283632"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-01-19"
            },
            "penetrance": null,
            "phenotypes": [
                "Dandy-Walker malformation",
                "enlarged echogenic kidneys",
                "echogenic kidneys",
                "hydrocephalus",
                "anhydramnios"
            ],
            "transcript": null,
            "entity_name": "EXOC3L2",
            "entity_type": "gene",
            "publications": [
                "28749478",
                "27894351"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red"
            ],
            "gene_data": {
                "alias": [
                    "SEC84",
                    "EXO84",
                    "Exo84p"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:24659",
                "gene_name": "exocyst complex component 8",
                "omim_gene": [
                    "615283"
                ],
                "alias_name": null,
                "gene_symbol": "EXOC8",
                "hgnc_symbol": "EXOC8",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:231468480-231473598",
                            "ensembl_id": "ENSG00000116903"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:231332753-231337852",
                            "ensembl_id": "ENSG00000116903"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-01-09"
            },
            "penetrance": null,
            "phenotypes": [
                "No OMIM phenotype",
                "Joubert syndrome (Dixon-Salazar (2012) Sci Transl Med 4, 138ra78)"
            ],
            "transcript": null,
            "entity_name": "EXOC8",
            "entity_type": "gene",
            "publications": [
                "22700954"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "Unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red"
            ],
            "gene_data": {
                "alias": [
                    "JBTS26",
                    "KATNIP"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29068",
                "gene_name": "KIAA0556",
                "omim_gene": [
                    "616650"
                ],
                "alias_name": null,
                "gene_symbol": "KIAA0556",
                "hgnc_symbol": "KIAA0556",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:27561454-27791690",
                            "ensembl_id": "ENSG00000047578"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:27550133-27780369",
                            "ensembl_id": "ENSG00000047578"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-08-25"
            },
            "penetrance": null,
            "phenotypes": [
                "?Joubert syndrome 26"
            ],
            "transcript": null,
            "entity_name": "KIAA0556",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red"
            ],
            "gene_data": {
                "alias": [
                    "KIAA0042"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:19181",
                "gene_name": "kinesin family member 14",
                "omim_gene": [
                    "611279"
                ],
                "alias_name": null,
                "gene_symbol": "KIF14",
                "hgnc_symbol": "KIF14",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:200520628-200589862",
                            "ensembl_id": "ENSG00000118193"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:200551497-200620734",
                            "ensembl_id": "ENSG00000118193"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-09-12"
            },
            "penetrance": null,
            "phenotypes": [
                "?Meckel syndrome 12, 616258",
                "complex brain malformation",
                "?Meckel syndrome 12",
                "intrauterine growth restriction (IUGR)",
                "microcephaly",
                "Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome",
                "genitourinary malformation",
                "renal cystic dysplasia/agenesis"
            ],
            "transcript": null,
            "entity_name": "KIF14",
            "entity_type": "gene",
            "publications": [
                "24128419"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red"
            ],
            "gene_data": {
                "alias": [
                    "JBTS22"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8788",
                "gene_name": "phosphodiesterase 6D",
                "omim_gene": [
                    "602676"
                ],
                "alias_name": null,
                "gene_symbol": "PDE6D",
                "hgnc_symbol": "PDE6D",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:232597135-232650982",
                            "ensembl_id": "ENSG00000156973"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:231732425-231786272",
                            "ensembl_id": "ENSG00000156973"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-11-03"
            },
            "penetrance": null,
            "phenotypes": [
                "?Joubert syndrome 22",
                "Joubert Syndrome and Senior-Loken Syndrome 24 gene panel",
                "?Joubert syndrome 22, 615665"
            ],
            "transcript": null,
            "entity_name": "PDE6D",
            "entity_type": "gene",
            "publications": [
                "24166846"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red"
            ],
            "gene_data": {
                "alias": [
                    "CEP90"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:23352",
                "gene_name": "progesterone immunomodulatory binding factor 1",
                "omim_gene": [
                    "607532"
                ],
                "alias_name": [
                    "progesterone-induced blocking factor 1"
                ],
                "gene_symbol": "PIBF1",
                "hgnc_symbol": "PIBF1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "13:73356197-73590591",
                            "ensembl_id": "ENSG00000083535"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "13:72782059-73016461",
                            "ensembl_id": "ENSG00000083535"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-10-17"
            },
            "penetrance": null,
            "phenotypes": [
                "Joubert syndrome",
                "ataxia",
                "vermis hypoplasia",
                "developmental delay",
                "thick superior cerebellar peduncles",
                "superior cerebellar dysplasia"
            ],
            "transcript": null,
            "entity_name": "PIBF1",
            "entity_type": "gene",
            "publications": [
                "26167768"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red"
            ],
            "gene_data": {
                "alias": [
                    "FLJ90013"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26887",
                "gene_name": "transmembrane anterior posterior transformation 1",
                "omim_gene": [
                    "612758"
                ],
                "alias_name": null,
                "gene_symbol": "TAPT1",
                "hgnc_symbol": "TAPT1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:16162128-16229033",
                            "ensembl_id": "ENSG00000169762"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:16160505-16227410",
                            "ensembl_id": "ENSG00000169762"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-02-02"
            },
            "penetrance": null,
            "phenotypes": [
                "Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 616897"
            ],
            "transcript": null,
            "entity_name": "TAPT1",
            "entity_type": "gene",
            "publications": [
                "26365339"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red"
            ],
            "gene_data": {
                "alias": [
                    "FLJ30899",
                    "dJ310J6.1",
                    "FLJ34235",
                    "bA57L9.1",
                    "BROMI"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21485",
                "gene_name": "TBC1 domain family member 32",
                "omim_gene": [
                    "615867"
                ],
                "alias_name": [
                    "broad-minded homolog"
                ],
                "gene_symbol": "TBC1D32",
                "hgnc_symbol": "TBC1D32",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:121400640-121655891",
                            "ensembl_id": "ENSG00000146350"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:121079494-121334745",
                            "ensembl_id": "ENSG00000146350"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2013-07-10"
            },
            "penetrance": null,
            "phenotypes": [
                "No OMIM phenotype",
                "Oro-facio-digital syndrome type IX (Adly (2014) Hum Mutat 35, 36)"
            ],
            "transcript": null,
            "entity_name": "TBC1D32",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red"
            ],
            "gene_data": {
                "alias": [
                    "DIC3",
                    "FLJ30067",
                    "NYD-SP29"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:30711",
                "gene_name": "WD repeat domain 63",
                "omim_gene": null,
                "alias_name": null,
                "gene_symbol": "WDR63",
                "hgnc_symbol": "WDR63",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:85464830-85598821",
                            "ensembl_id": "ENSG00000162643"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:84999147-85133138",
                            "ensembl_id": "ENSG00000162643"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2013-02-19"
            },
            "penetrance": null,
            "phenotypes": [
                "occipital encephalocele and inconsistent brain lobulation",
                "ciliopathy-like disorder"
            ],
            "transcript": null,
            "entity_name": "WDR63",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        }
    ],
    "stats": {
        "number_of_strs": 0,
        "number_of_genes": 57,
        "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": "Component Of Super Panel",
            "slug": "component-of-super-panel",
            "description": "This panel is a component of a Super Panel"
        },
        {
            "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": "1.5",
    "disease_group": "Ciliopathies",
    "version_created": "2020-03-04T11:46:03.011574Z",
    "disease_sub_group": "Congenital malformations caused by ciliopathies",
    "relevant_disorders": [],
    "signed_off": "2020-03-04"
}