Search Genes

GET /api/v1/genes/?format=api&page=267
HTTP 200 OK
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            "gene_data": {
                "alias": [
                    "DIK",
                    "ANKK2",
                    "RIP4",
                    "PKK"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:496",
                "gene_name": "receptor interacting serine/threonine kinase 4",
                "omim_gene": [
                    "605706"
                ],
                "alias_name": [
                    "protein kinase C-associated kinase",
                    "PKC-delta-interacting protein kinase"
                ],
                "gene_symbol": "RIPK4",
                "hgnc_symbol": "RIPK4",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "21:43159529-43187266",
                            "ensembl_id": "ENSG00000183421"
                        }
                    },
                    "GRch38": {
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                            "location": "21:41739369-41767106",
                            "ensembl_id": "ENSG00000183421"
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                },
                "hgnc_date_symbol_changed": "2004-07-06"
            },
            "entity_type": "gene",
            "entity_name": "RIPK4",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "PMID: 28940926",
                "22197489",
                "22197488"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Popliteal pterygium syndrome, Bartsocas-Papas type 1, MIM# 263650"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 3368,
                "hash_id": null,
                "name": "Clefting disorders",
                "disease_group": "Dysmorphic and congenital abnormality syndromes",
                "disease_sub_group": "Dysmorphic disorders",
                "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.",
                "status": "public",
                "version": "0.312",
                "version_created": "2026-02-24T14:38:08.760295+11:00",
                "relevant_disorders": [
                    "Oral cleft HP:0000202"
                ],
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                    "number_of_genes": 314,
                    "number_of_strs": 2,
                    "number_of_regions": 5
                },
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                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Genetic Health Queensland",
                        "slug": "genetic-health-queensland",
                        "description": "Panel used by GHQ."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ44734",
                    "IGF-II"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:5466",
                "gene_name": "insulin like growth factor 2",
                "omim_gene": [
                    "147470"
                ],
                "alias_name": [
                    "somatomedin A",
                    "preptin"
                ],
                "gene_symbol": "IGF2",
                "hgnc_symbol": "IGF2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:2150342-2170833",
                            "ensembl_id": "ENSG00000167244"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "11:2129112-2141238",
                            "ensembl_id": "ENSG00000167244"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "IGF2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "PMID: 31544945"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Silver-Russell syndrome 3 MIM#616489"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)",
            "tags": [],
            "panel": {
                "id": 3368,
                "hash_id": null,
                "name": "Clefting disorders",
                "disease_group": "Dysmorphic and congenital abnormality syndromes",
                "disease_sub_group": "Dysmorphic disorders",
                "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.",
                "status": "public",
                "version": "0.312",
                "version_created": "2026-02-24T14:38:08.760295+11:00",
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                    "Oral cleft HP:0000202"
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                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
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                    {
                        "name": "Genetic Health Queensland",
                        "slug": "genetic-health-queensland",
                        "description": "Panel used by GHQ."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "RAI",
                    "IASPP"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:18838",
                "gene_name": "protein phosphatase 1 regulatory subunit 13 like",
                "omim_gene": [
                    "607463"
                ],
                "alias_name": null,
                "gene_symbol": "PPP1R13L",
                "hgnc_symbol": "PPP1R13L",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:45882892-45909607",
                            "ensembl_id": "ENSG00000104881"
                        }
                    },
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                        "90": {
                            "location": "19:45379634-45406349",
                            "ensembl_id": "ENSG00000104881"
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                    }
                },
                "hgnc_date_symbol_changed": "2004-11-26"
            },
            "entity_type": "gene",
            "entity_name": "PPP1R13L",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "32666529",
                "28864777"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "phenotypes": [
                "Arrhythmogenic cardiomyopathy with or without ectodermal abnormalities, MIM#620519"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 3368,
                "hash_id": null,
                "name": "Clefting disorders",
                "disease_group": "Dysmorphic and congenital abnormality syndromes",
                "disease_sub_group": "Dysmorphic disorders",
                "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.",
                "status": "public",
                "version": "0.312",
                "version_created": "2026-02-24T14:38:08.760295+11:00",
                "relevant_disorders": [
                    "Oral cleft HP:0000202"
                ],
                "stats": {
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                    "number_of_strs": 2,
                    "number_of_regions": 5
                },
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                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Genetic Health Queensland",
                        "slug": "genetic-health-queensland",
                        "description": "Panel used by GHQ."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:132",
                "gene_name": "actin beta",
                "omim_gene": [
                    "102630"
                ],
                "alias_name": null,
                "gene_symbol": "ACTB",
                "hgnc_symbol": "ACTB",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:5566782-5603415",
                            "ensembl_id": "ENSG00000075624"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:5527151-5563784",
                            "ensembl_id": "ENSG00000075624"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "ACTB",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "22366783"
            ],
            "evidence": [
                "Expert Review Green"
            ],
            "phenotypes": [
                "Baraitser-Winter syndrome 1, MIM# 243310"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 3368,
                "hash_id": null,
                "name": "Clefting disorders",
                "disease_group": "Dysmorphic and congenital abnormality syndromes",
                "disease_sub_group": "Dysmorphic disorders",
                "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.",
                "status": "public",
                "version": "0.312",
                "version_created": "2026-02-24T14:38:08.760295+11:00",
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                    "Oral cleft HP:0000202"
                ],
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                    "number_of_regions": 5
                },
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                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Genetic Health Queensland",
                        "slug": "genetic-health-queensland",
                        "description": "Panel used by GHQ."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:144",
                "gene_name": "actin gamma 1",
                "omim_gene": [
                    "102560"
                ],
                "alias_name": null,
                "gene_symbol": "ACTG1",
                "hgnc_symbol": "ACTG1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:79476997-79490873",
                            "ensembl_id": "ENSG00000184009"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:81509971-81523847",
                            "ensembl_id": "ENSG00000184009"
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                    }
                },
                "hgnc_date_symbol_changed": "1988-06-27"
            },
            "entity_type": "gene",
            "entity_name": "ACTG1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "22366783"
            ],
            "evidence": [
                "Expert Review Green"
            ],
            "phenotypes": [
                "Baraitser-Winter syndrome 2, MIM# 614583"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 3368,
                "hash_id": null,
                "name": "Clefting disorders",
                "disease_group": "Dysmorphic and congenital abnormality syndromes",
                "disease_sub_group": "Dysmorphic disorders",
                "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.",
                "status": "public",
                "version": "0.312",
                "version_created": "2026-02-24T14:38:08.760295+11:00",
                "relevant_disorders": [
                    "Oral cleft HP:0000202"
                ],
                "stats": {
                    "number_of_genes": 314,
                    "number_of_strs": 2,
                    "number_of_regions": 5
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Genetic Health Queensland",
                        "slug": "genetic-health-queensland",
                        "description": "Panel used by GHQ."
                    },
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                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "RP11-403E24.2",
                    "FLJ39827",
                    "WTX"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26837",
                "gene_name": "APC membrane recruitment protein 1",
                "omim_gene": [
                    "300647"
                ],
                "alias_name": [
                    "Wilms Tumor on the X",
                    "adenomatous polyposis coli membrane recruitment 1"
                ],
                "gene_symbol": "AMER1",
                "hgnc_symbol": "AMER1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:63404997-63425624",
                            "ensembl_id": "ENSG00000184675"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:64185117-64205744",
                            "ensembl_id": "ENSG00000184675"
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                    }
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                "hgnc_date_symbol_changed": "2012-12-03"
            },
            "entity_type": "gene",
            "entity_name": "AMER1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "20209645",
                "19079258"
            ],
            "evidence": [
                "Expert Review Green",
                "Victorian Clinical Genetics Services",
                "Victorian Clinical Genetics Services"
            ],
            "phenotypes": [
                "Osteopathia striata with cranial sclerosis, MIM# 300373"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
            "tags": [],
            "panel": {
                "id": 3368,
                "hash_id": null,
                "name": "Clefting disorders",
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                "disease_sub_group": "Dysmorphic disorders",
                "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.",
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                "version": "0.312",
                "version_created": "2026-02-24T14:38:08.760295+11:00",
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                    "Oral cleft HP:0000202"
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                    "number_of_strs": 2,
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                },
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                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
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                    },
                    {
                        "name": "Genetic Health Queensland",
                        "slug": "genetic-health-queensland",
                        "description": "Panel used by GHQ."
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                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
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            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "LZ16",
                    "T13"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21316",
                "gene_name": "ankyrin repeat domain 11",
                "omim_gene": [
                    "611192"
                ],
                "alias_name": null,
                "gene_symbol": "ANKRD11",
                "hgnc_symbol": "ANKRD11",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:89334038-89556969",
                            "ensembl_id": "ENSG00000167522"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:89267627-89490561",
                            "ensembl_id": "ENSG00000167522"
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                    }
                },
                "hgnc_date_symbol_changed": "2004-01-15"
            },
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            "entity_name": "ANKRD11",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "25838844",
                "2705097",
                "21782149",
                "27900361",
                "35861666"
            ],
            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN"
            ],
            "phenotypes": [
                "KBG syndrome, MIM# 148050"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 3368,
                "hash_id": null,
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                "disease_sub_group": "Dysmorphic disorders",
                "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.",
                "status": "public",
                "version": "0.312",
                "version_created": "2026-02-24T14:38:08.760295+11:00",
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                    "Oral cleft HP:0000202"
                ],
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                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
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                    {
                        "name": "Genetic Health Queensland",
                        "slug": "genetic-health-queensland",
                        "description": "Panel used by GHQ."
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                        "name": "Rare Disease",
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                ],
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            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "PARG1"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:30207",
                "gene_name": "Rho GTPase activating protein 29",
                "omim_gene": [
                    "610496"
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                "alias_name": null,
                "gene_symbol": "ARHGAP29",
                "hgnc_symbol": "ARHGAP29",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:94614544-94740624",
                            "ensembl_id": "ENSG00000137962"
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                        "90": {
                            "location": "1:94148988-94275068",
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            },
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            "mode_of_pathogenicity": "",
            "publications": [
                "23008150",
                "27369588",
                "25704602",
                "27350171",
                "25512736",
                "27033726",
                "28029220"
            ],
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                "Expert Review Green",
                "Research",
                "Victorian Clinical Genetics Services",
                "Victorian Clinical Genetics Services"
            ],
            "phenotypes": [
                "Clefting disorder, MONDO:0000358, ARHGAP29-related"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 3368,
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                "disease_sub_group": "Dysmorphic disorders",
                "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.",
                "status": "public",
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                "version_created": "2026-02-24T14:38:08.760295+11:00",
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                    "Oral cleft HP:0000202"
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                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Genetic Health Queensland",
                        "slug": "genetic-health-queensland",
                        "description": "Panel used by GHQ."
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                    }
                ],
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            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CDGAP"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29216",
                "gene_name": "Rho GTPase activating protein 31",
                "omim_gene": [
                    "610911"
                ],
                "alias_name": null,
                "gene_symbol": "ARHGAP31",
                "hgnc_symbol": "ARHGAP31",
                "hgnc_release": "2017-11-03",
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                        "name": "Victorian Clinical Genetics Services",
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                    "Oral cleft HP:0000202"
                ],
                "stats": {
                    "number_of_genes": 314,
                    "number_of_strs": 2,
                    "number_of_regions": 5
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Genetic Health Queensland",
                        "slug": "genetic-health-queensland",
                        "description": "Panel used by GHQ."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "P57",
                    "KIP2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1786",
                "gene_name": "cyclin dependent kinase inhibitor 1C",
                "omim_gene": [
                    "600856"
                ],
                "alias_name": null,
                "gene_symbol": "CDKN1C",
                "hgnc_symbol": "CDKN1C",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:2904443-2907111",
                            "ensembl_id": "ENSG00000129757"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "11:2883213-2885881",
                            "ensembl_id": "ENSG00000129757"
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                },
                "hgnc_date_symbol_changed": "1995-09-14"
            },
            "entity_type": "gene",
            "entity_name": "CDKN1C",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "20503313"
            ],
            "evidence": [
                "Expert Review Green"
            ],
            "phenotypes": [
                "BECKWITH-WIEDEMANN SYNDROME",
                "BWS"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)",
            "tags": [],
            "panel": {
                "id": 3368,
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                "disease_sub_group": "Dysmorphic disorders",
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                "status": "public",
                "version": "0.312",
                "version_created": "2026-02-24T14:38:08.760295+11:00",
                "relevant_disorders": [
                    "Oral cleft HP:0000202"
                ],
                "stats": {
                    "number_of_genes": 314,
                    "number_of_strs": 2,
                    "number_of_regions": 5
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Genetic Health Queensland",
                        "slug": "genetic-health-queensland",
                        "description": "Panel used by GHQ."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "KIAA1416",
                    "FLJ20357",
                    "FLJ20361"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:20626",
                "gene_name": "chromodomain helicase DNA binding protein 7",
                "omim_gene": [
                    "608892"
                ],
                "alias_name": null,
                "gene_symbol": "CHD7",
                "hgnc_symbol": "CHD7",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:61591337-61779465",
                            "ensembl_id": "ENSG00000171316"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "8:60678778-60868028",
                            "ensembl_id": "ENSG00000171316"
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                },
                "hgnc_date_symbol_changed": "2004-06-22"
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            "entity_type": "gene",
            "entity_name": "CHD7",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green"
            ],
            "phenotypes": [
                "CHARGE SYNDROME"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 3368,
                "hash_id": null,
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                "disease_group": "Dysmorphic and congenital abnormality syndromes",
                "disease_sub_group": "Dysmorphic disorders",
                "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.",
                "status": "public",
                "version": "0.312",
                "version_created": "2026-02-24T14:38:08.760295+11:00",
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                    "Oral cleft HP:0000202"
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                    "number_of_genes": 314,
                    "number_of_strs": 2,
                    "number_of_regions": 5
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Genetic Health Queensland",
                        "slug": "genetic-health-queensland",
                        "description": "Panel used by GHQ."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1967",
                "gene_name": "cholinergic receptor nicotinic gamma subunit",
                "omim_gene": [
                    "100730"
                ],
                "alias_name": [
                    "acetylcholine receptor, nicotinic, gamma (muscle)"
                ],
                "gene_symbol": "CHRNG",
                "hgnc_symbol": "CHRNG",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:233404437-233411113",
                            "ensembl_id": "ENSG00000196811"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:232539727-232546403",
                            "ensembl_id": "ENSG00000196811"
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                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "CHRNG",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "16826520",
                "22167768",
                "27843868"
            ],
            "evidence": [
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services",
                "UKGTN",
                "Expert list"
            ],
            "phenotypes": [
                "PTERYGIUM SYNDROME, MULTIPLE, LETHAL TYPE",
                "MULTIPLE PTERYGIUM SYNDROME, NONLETHAL TYPE",
                "Multiple pterygium syndrome, lethal type, 253290",
                "Escobar syndrome, 265000"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 3368,
                "hash_id": null,
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                "disease_sub_group": "Dysmorphic disorders",
                "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.",
                "status": "public",
                "version": "0.312",
                "version_created": "2026-02-24T14:38:08.760295+11:00",
                "relevant_disorders": [
                    "Oral cleft HP:0000202"
                ],
                "stats": {
                    "number_of_genes": 314,
                    "number_of_strs": 2,
                    "number_of_regions": 5
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Genetic Health Queensland",
                        "slug": "genetic-health-queensland",
                        "description": "Panel used by GHQ."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "HD4ST",
                    "D4ST-1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:24464",
                "gene_name": "carbohydrate sulfotransferase 14",
                "omim_gene": [
                    "608429"
                ],
                "alias_name": null,
                "gene_symbol": "CHST14",
                "hgnc_symbol": "CHST14",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:40763160-40765353",
                            "ensembl_id": "ENSG00000169105"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:40470998-40474571",
                            "ensembl_id": "ENSG00000169105"
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                    }
                },
                "hgnc_date_symbol_changed": "2007-03-27"
            },
            "entity_type": "gene",
            "entity_name": "CHST14",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green"
            ],
            "phenotypes": [
                "EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1",
                "EDSMC1"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 3368,
                "hash_id": null,
                "name": "Clefting disorders",
                "disease_group": "Dysmorphic and congenital abnormality syndromes",
                "disease_sub_group": "Dysmorphic disorders",
                "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.",
                "status": "public",
                "version": "0.312",
                "version_created": "2026-02-24T14:38:08.760295+11:00",
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                    "Oral cleft HP:0000202"
                ],
                "stats": {
                    "number_of_genes": 314,
                    "number_of_strs": 2,
                    "number_of_regions": 5
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Genetic Health Queensland",
                        "slug": "genetic-health-queensland",
                        "description": "Panel used by GHQ."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "STL2",
                    "CO11A1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2186",
                "gene_name": "collagen type XI alpha 1 chain",
                "omim_gene": [
                    "120280"
                ],
                "alias_name": [
                    "collagen XI, alpha-1 polypeptide"
                ],
                "gene_symbol": "COL11A1",
                "hgnc_symbol": "COL11A1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:103342023-103574052",
                            "ensembl_id": "ENSG00000060718"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:102876467-103108496",
                            "ensembl_id": "ENSG00000060718"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1989-05-08"
            },
            "entity_type": "gene",
            "entity_name": "COL11A1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Eligibility statement prior genetic testing",
                "Victorian Clinical Genetics Services",
                "UKGTN",
                "Expert Review Green"
            ],
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                "Orofacial Clefting with skeletal features",
                "Stickler Syndrome",
                "Cleft palate"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 3368,
                "hash_id": null,
                "name": "Clefting disorders",
                "disease_group": "Dysmorphic and congenital abnormality syndromes",
                "disease_sub_group": "Dysmorphic disorders",
                "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.",
                "status": "public",
                "version": "0.312",
                "version_created": "2026-02-24T14:38:08.760295+11:00",
                "relevant_disorders": [
                    "Oral cleft HP:0000202"
                ],
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                    "number_of_genes": 314,
                    "number_of_strs": 2,
                    "number_of_regions": 5
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Genetic Health Queensland",
                        "slug": "genetic-health-queensland",
                        "description": "Panel used by GHQ."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "HKE5"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2187",
                "gene_name": "collagen type XI alpha 2 chain",
                "omim_gene": [
                    "120290"
                ],
                "alias_name": null,
                "gene_symbol": "COL11A2",
                "hgnc_symbol": "COL11A2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:33130458-33160276",
                            "ensembl_id": "ENSG00000204248"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:33162681-33192499",
                            "ensembl_id": "ENSG00000204248"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1989-05-25"
            },
            "entity_type": "gene",
            "entity_name": "COL11A2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Victorian Clinical Genetics Services",
                "Eligibility statement prior genetic testing",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN"
            ],
            "phenotypes": [
                "Cleft palate",
                "OSMED",
                "STL3",
                "Stickler syndrome, type III",
                "Non-ocular Stickler syndrome",
                "STICKLER SYNDROME, NONOCULAR TYPE"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 3368,
                "hash_id": null,
                "name": "Clefting disorders",
                "disease_group": "Dysmorphic and congenital abnormality syndromes",
                "disease_sub_group": "Dysmorphic disorders",
                "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.",
                "status": "public",
                "version": "0.312",
                "version_created": "2026-02-24T14:38:08.760295+11:00",
                "relevant_disorders": [
                    "Oral cleft HP:0000202"
                ],
                "stats": {
                    "number_of_genes": 314,
                    "number_of_strs": 2,
                    "number_of_regions": 5
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Genetic Health Queensland",
                        "slug": "genetic-health-queensland",
                        "description": "Panel used by GHQ."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "STL1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2200",
                "gene_name": "collagen type II alpha 1 chain",
                "omim_gene": [
                    "120140"
                ],
                "alias_name": null,
                "gene_symbol": "COL2A1",
                "hgnc_symbol": "COL2A1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:48366748-48398269",
                            "ensembl_id": "ENSG00000139219"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:47972965-48004486",
                            "ensembl_id": "ENSG00000139219"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "COL2A1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "16752401",
                "17721977",
                "1677770"
            ],
            "evidence": [
                "Eligibility statement prior genetic testing",
                "Victorian Clinical Genetics Services",
                "UKGTN",
                "Expert Review Green"
            ],
            "phenotypes": [
                "STL1",
                "Stickler syndrome (cleft palate,micrognathia,vireo-retinal anomalies, severe myopia, joint problems, hearing loss)",
                "Stickler sydrome, type I, non syndromic ocular",
                "Cleft palate",
                "STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE",
                "ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE, AOM",
                "STICKLER SYNDROME, TYPE I",
                "Orofacial Clefting with skeletal features",
                "Stickler Syndrome",
                "STICKLER SYNDROME, TYPE I (STL1), 108300",
                "STICKLER SYNDROME, VITREOUS TYPE 1"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 3368,
                "hash_id": null,
                "name": "Clefting disorders",
                "disease_group": "Dysmorphic and congenital abnormality syndromes",
                "disease_sub_group": "Dysmorphic disorders",
                "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.",
                "status": "public",
                "version": "0.312",
                "version_created": "2026-02-24T14:38:08.760295+11:00",
                "relevant_disorders": [
                    "Oral cleft HP:0000202"
                ],
                "stats": {
                    "number_of_genes": 314,
                    "number_of_strs": 2,
                    "number_of_regions": 5
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Genetic Health Queensland",
                        "slug": "genetic-health-queensland",
                        "description": "Panel used by GHQ."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2217",
                "gene_name": "collagen type IX alpha 1 chain",
                "omim_gene": [
                    "120210"
                ],
                "alias_name": null,
                "gene_symbol": "COL9A1",
                "hgnc_symbol": "COL9A1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:70924764-71012786",
                            "ensembl_id": "ENSG00000112280"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:70215061-70303083",
                            "ensembl_id": "ENSG00000112280"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1989-05-08"
            },
            "entity_type": "gene",
            "entity_name": "COL9A1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "16909383",
                "21421862"
            ],
            "evidence": [
                "Victorian Clinical Genetics Services",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Autosomal recessive Stickler syndrome",
                "Stickler syndrome, type IV (ophthalmological: myopia, retinal detachment and cataracts, orofacial: micrognathia, midface hypoplasia and cleft palate, auditory:sensorineural hearing loss and articular: epiphyseal dysplasia) symptoms",
                "Orofacial Clefting with skeletal features",
                "Cleft palate"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 3368,
                "hash_id": null,
                "name": "Clefting disorders",
                "disease_group": "Dysmorphic and congenital abnormality syndromes",
                "disease_sub_group": "Dysmorphic disorders",
                "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.",
                "status": "public",
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                            "ensembl_id": "ENSG00000104313"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "8:71197433-71362232",
                            "ensembl_id": "ENSG00000104313"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1996-12-12"
            },
            "entity_type": "gene",
            "entity_name": "EYA1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green"
            ],
            "phenotypes": [
                "BOR1",
                "BRANCHIOOTORENAL SYNDROME 1"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 3368,
                "hash_id": null,
                "name": "Clefting disorders",
                "disease_group": "Dysmorphic and congenital abnormality syndromes",
                "disease_sub_group": "Dysmorphic disorders",
                "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.",
                "status": "public",
                "version": "0.312",
                "version_created": "2026-02-24T14:38:08.760295+11:00",
                "relevant_disorders": [
                    "Oral cleft HP:0000202"
                ],
                "stats": {
                    "number_of_genes": 314,
                    "number_of_strs": 2,
                    "number_of_regions": 5
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Genetic Health Queensland",
                        "slug": "genetic-health-queensland",
                        "description": "Panel used by GHQ."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "IMAGE:4942737",
                    "DKFZp547D065",
                    "DMP4",
                    "G-CK"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:22140",
                "gene_name": "FAM20C, golgi associated secretory pathway kinase",
                "omim_gene": [
                    "611061"
                ],
                "alias_name": [
                    "dentin matrix protein 4",
                    "golgi casein kinase"
                ],
                "gene_symbol": "FAM20C",
                "hgnc_symbol": "FAM20C",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:192969-300711",
                            "ensembl_id": "ENSG00000177706"
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                    "GRch38": {
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                            "location": "7:192969-260745",
                            "ensembl_id": "ENSG00000177706"
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                    }
                },
                "hgnc_date_symbol_changed": "2003-09-03"
            },
            "entity_type": "gene",
            "entity_name": "FAM20C",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "2194867118000911",
                "2614802",
                "25974638",
                "17924334",
                "10482879"
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            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
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                "Emory Genetics Laboratory"
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            "phenotypes": [
                "Raine syndrome, 259775"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 3368,
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                "disease_sub_group": "Dysmorphic disorders",
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                "status": "public",
                "version": "0.312",
                "version_created": "2026-02-24T14:38:08.760295+11:00",
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                    "Oral cleft HP:0000202"
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                    "number_of_genes": 314,
                    "number_of_strs": 2,
                    "number_of_regions": 5
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Genetic Health Queensland",
                        "slug": "genetic-health-queensland",
                        "description": "Panel used by GHQ."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "ZFYVE3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3663",
                "gene_name": "FYVE, RhoGEF and PH domain containing 1",
                "omim_gene": [
                    "300546"
                ],
                "alias_name": null,
                "gene_symbol": "FGD1",
                "hgnc_symbol": "FGD1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:54471887-54522599",
                            "ensembl_id": "ENSG00000102302"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "X:54445454-54496166",
                            "ensembl_id": "ENSG00000102302"
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                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "FGD1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "20082460"
            ],
            "evidence": [
                "Expert Review Green"
            ],
            "phenotypes": [
                "AARSKOG-SCOTT SYNDROME",
                "AAS"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "tags": [],
            "panel": {
                "id": 3368,
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                "disease_group": "Dysmorphic and congenital abnormality syndromes",
                "disease_sub_group": "Dysmorphic disorders",
                "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.",
                "status": "public",
                "version": "0.312",
                "version_created": "2026-02-24T14:38:08.760295+11:00",
                "relevant_disorders": [
                    "Oral cleft HP:0000202"
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                "stats": {
                    "number_of_genes": 314,
                    "number_of_strs": 2,
                    "number_of_regions": 5
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Genetic Health Queensland",
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                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "H2",
                    "H3",
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                "hgnc_id": "HGNC:3688",
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                "hgnc_symbol": "FGFR1",
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                },
                "hgnc_date_symbol_changed": "1992-02-25"
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            "entity_type": "gene",
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            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
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                "1342859",
                "16606836",
                "14564207",
                "12627230"
            ],
            "evidence": [
                "Radboud University Medical Center, Nijmegen",
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                "Emory Genetics Laboratory",
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            ],
            "phenotypes": [
                "Kallmann syndrome 2",
                "Hartsfield syndrome, 615465",
                "Hypogonadotropic hypogonadism 2 with or without anosmia, 147950"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 3368,
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                "disease_sub_group": "Dysmorphic disorders",
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                "status": "public",
                "version": "0.312",
                "version_created": "2026-02-24T14:38:08.760295+11:00",
                "relevant_disorders": [
                    "Oral cleft HP:0000202"
                ],
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                    "number_of_genes": 314,
                    "number_of_strs": 2,
                    "number_of_regions": 5
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Genetic Health Queensland",
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                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CEK3",
                    "TK14",
                    "TK25",
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                    "CD332"
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                "hgnc_id": "HGNC:3689",
                "gene_name": "fibroblast growth factor receptor 2",
                "omim_gene": [
                    "176943"
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                "alias_name": [
                    "Crouzon syndrome",
                    "Pfeiffer syndrome"
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                "gene_symbol": "FGFR2",
                "hgnc_symbol": "FGFR2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "10:123237848-123357972",
                            "ensembl_id": "ENSG00000066468"
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                    },
                    "GRch38": {
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                            "location": "10:121478334-121598458",
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                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-05-09"
            },
            "entity_type": "gene",
            "entity_name": "FGFR2",
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            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green"
            ],
            "phenotypes": [
                "APERT SYNDROME"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 3368,
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                "version": "0.312",
                "version_created": "2026-02-24T14:38:08.760295+11:00",
                "relevant_disorders": [
                    "Oral cleft HP:0000202"
                ],
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                    "number_of_genes": 314,
                    "number_of_strs": 2,
                    "number_of_regions": 5
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Genetic Health Queensland",
                        "slug": "genetic-health-queensland",
                        "description": "Panel used by GHQ."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "ABP-280"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3754",
                "gene_name": "filamin A",
                "omim_gene": [
                    "300017"
                ],
                "alias_name": [
                    "actin binding protein 280",
                    "alpha filamin"
                ],
                "gene_symbol": "FLNA",
                "hgnc_symbol": "FLNA",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:153576892-153603006",
                            "ensembl_id": "ENSG00000196924"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:154348524-154374638",
                            "ensembl_id": "ENSG00000196924"
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                    }
                },
                "hgnc_date_symbol_changed": "1993-03-18"
            },
            "entity_type": "gene",
            "entity_name": "FLNA",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "10706363",
                "20301567",
                "12612583",
                "16538226"
            ],
            "evidence": [
                "UKGTN",
                "Expert Review Green"
            ],
            "phenotypes": [
                "OTOPALATODIGITAL SYNDROME, TYPE I",
                "Otopalatodigital syndrome, type II, 304120  (includes clefting)",
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                "OPD1, OTOPALATODIGITAL SYNDROME, TYPE II",
                "OPD2, FRONTOMETAPHYSEAL DYSPLASIA 1",
                "FMD1",
                "Melnick-Needles syndrome, 309350 (includes clefting)",
                "Otopalatodigital syndrome, type I, 311300 (includes clefting)"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
            "tags": [],
            "panel": {
                "id": 3368,
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                "disease_group": "Dysmorphic and congenital abnormality syndromes",
                "disease_sub_group": "Dysmorphic disorders",
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                "status": "public",
                "version": "0.312",
                "version_created": "2026-02-24T14:38:08.760295+11:00",
                "relevant_disorders": [
                    "Oral cleft HP:0000202"
                ],
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                    "number_of_genes": 314,
                    "number_of_strs": 2,
                    "number_of_regions": 5
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Genetic Health Queensland",
                        "slug": "genetic-health-queensland",
                        "description": "Panel used by GHQ."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "TAP",
                    "TABP",
                    "ABP-278",
                    "FH1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3755",
                "gene_name": "filamin B",
                "omim_gene": [
                    "603381"
                ],
                "alias_name": [
                    "actin binding protein 278",
                    "beta filamin"
                ],
                "gene_symbol": "FLNB",
                "hgnc_symbol": "FLNB",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:57994127-58157982",
                            "ensembl_id": "ENSG00000136068"
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                    },
                    "GRch38": {
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                            "location": "3:58008400-58172251",
                            "ensembl_id": "ENSG00000136068"
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                    }
                },
                "hgnc_date_symbol_changed": "1997-06-20"
            },
            "entity_type": "gene",
            "entity_name": "FLNB",
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            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services",
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                "Expert Review Green"
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                "Spondylocarpotarsal synostosis syndrome (includes clefting), BIALLELIC, autosomal or pseudoautosomal, 272460",
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                "Atelosteogenesis, type III MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown (includes clefting), 108721",
                "Larsen syndrome (includes clefting) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown, 150250",
                "Orofacial Clefting with skeletal features",
                "Skeletal dysplasia with midline cleft palate"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 3368,
                "hash_id": null,
                "name": "Clefting disorders",
                "disease_group": "Dysmorphic and congenital abnormality syndromes",
                "disease_sub_group": "Dysmorphic disorders",
                "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.",
                "status": "public",
                "version": "0.312",
                "version_created": "2026-02-24T14:38:08.760295+11:00",
                "relevant_disorders": [
                    "Oral cleft HP:0000202"
                ],
                "stats": {
                    "number_of_genes": 314,
                    "number_of_strs": 2,
                    "number_of_regions": 5
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Genetic Health Queensland",
                        "slug": "genetic-health-queensland",
                        "description": "Panel used by GHQ."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "MFH-1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3801",
                "gene_name": "forkhead box C2",
                "omim_gene": [
                    "602402"
                ],
                "alias_name": [
                    "mesenchyme forkhead 1"
                ],
                "gene_symbol": "FOXC2",
                "hgnc_symbol": "FOXC2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:86600857-86602539",
                            "ensembl_id": "ENSG00000176692"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:86567251-86569728",
                            "ensembl_id": "ENSG00000176692"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-02-14"
            },
            "entity_type": "gene",
            "entity_name": "FOXC2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Victorian Clinical Genetics Services",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Cleft palate",
                "LYMPHEDEMA-DISTICHIASIS SYNDROME"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 3368,
                "hash_id": null,
                "name": "Clefting disorders",
                "disease_group": "Dysmorphic and congenital abnormality syndromes",
                "disease_sub_group": "Dysmorphic disorders",
                "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.",
                "status": "public",
                "version": "0.312",
                "version_created": "2026-02-24T14:38:08.760295+11:00",
                "relevant_disorders": [
                    "Oral cleft HP:0000202"
                ],
                "stats": {
                    "number_of_genes": 314,
                    "number_of_strs": 2,
                    "number_of_regions": 5
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Genetic Health Queensland",
                        "slug": "genetic-health-queensland",
                        "description": "Panel used by GHQ."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ22031",
                    "FLJ14927",
                    "KIAA1500"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:19185",
                "gene_name": "Fraser extracellular matrix complex subunit 1",
                "omim_gene": [
                    "607830"
                ],
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                "hgnc_symbol": "FRAS1",
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                    }
                },
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                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
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                    },
                    {
                        "name": "Genetic Health Queensland",
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        },
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                    "ODD",
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                "alias_name": [
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                    "number_of_regions": 5
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                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
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                    {
                        "name": "Genetic Health Queensland",
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                        "slug": "rare-disease",
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                "child_panel_ids": []
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        {
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                    "PAPA",
                    "PAPA1",
                    "PAPB",
                    "ACLS",
                    "PPDIV"
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                "hgnc_id": "HGNC:4319",
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                "omim_gene": [
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                "alias_name": [
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                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
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                    },
                    {
                        "name": "Genetic Health Queensland",
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                        "name": "Rare Disease",
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                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
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                    "SGBS",
                    "SGBS1",
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                    "DGSX"
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                "omim_gene": [
                    "300037"
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                "alias_name": [
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                            "location": "X:132669773-133119922",
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                    {
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                    {
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                    {
                        "name": "Genetic Health Queensland",
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                        "name": "Rare Disease",
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                ],
                "child_panel_ids": []
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            "transcript": null
        },
        {
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            "evidence": [
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                "CORNELIA DE LANGE SYNDROME 5"
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                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
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                ],
                "child_panel_ids": []
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        {
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                ],
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                ],
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        },
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                        "name": "Victorian Clinical Genetics Services",
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            "panel": {
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                ],
                "child_panel_ids": []
            },
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        },
        {
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                    "IMPA3",
                    "gPAPP"
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                "hgnc_id": "HGNC:26019",
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                "omim_gene": [
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                "alias_name": [
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                "hgnc_symbol": "IMPAD1",
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                        "name": "Victorian Clinical Genetics Services",
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                "hgnc_id": "HGNC:19960",
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                    {
                        "name": "Victorian Clinical Genetics Services",
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        {
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                    "MLL4",
                    "CAGL114"
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                    {
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        {
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                "hgnc_id": "HGNC:6859",
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                "omim_gene": [
                    "602614"
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                    }
                },
                "hgnc_date_symbol_changed": "2004-05-21"
            },
            "entity_type": "gene",
            "entity_name": "SCUBE3",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "33308444"
            ],
            "evidence": [
                "Expert Review Amber",
                "Expert Review"
            ],
            "phenotypes": [
                "Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, MIM# 619184"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 3368,
                "hash_id": null,
                "name": "Clefting disorders",
                "disease_group": "Dysmorphic and congenital abnormality syndromes",
                "disease_sub_group": "Dysmorphic disorders",
                "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.",
                "status": "public",
                "version": "0.312",
                "version_created": "2026-02-24T14:38:08.760295+11:00",
                "relevant_disorders": [
                    "Oral cleft HP:0000202"
                ],
                "stats": {
                    "number_of_genes": 314,
                    "number_of_strs": 2,
                    "number_of_regions": 5
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Genetic Health Queensland",
                        "slug": "genetic-health-queensland",
                        "description": "Panel used by GHQ."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        }
    ]
}