Search Genes

GET /api/v1/genes/?format=api&page=266
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            "gene_data": {
                "alias": [
                    "KIAA1752",
                    "MGC5149",
                    "ALKBH9"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:24678",
                "gene_name": "FTO, alpha-ketoglutarate dependent dioxygenase",
                "omim_gene": [
                    "610966"
                ],
                "alias_name": [
                    "alkB homolog 9",
                    "alpha-ketoglutarate-dependent dioxygenase"
                ],
                "gene_symbol": "FTO",
                "hgnc_symbol": "FTO",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:53737875-54155853",
                            "ensembl_id": "ENSG00000140718"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:53701692-54158512",
                            "ensembl_id": "ENSG00000140718"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-04-12"
            },
            "entity_type": "gene",
            "entity_name": "FTO",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "26378117",
                "19559399"
            ],
            "evidence": [
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services",
                "Expert list"
            ],
            "phenotypes": [
                "Growth retardation, developmental delay, facial dysmorphism, 612938",
                "Lethal polymalformative syndrome, Boissel type"
            ],
            "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": null
        },
        {
            "gene_data": {
                "alias": [
                    "HDR"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4172",
                "gene_name": "GATA binding protein 3",
                "omim_gene": [
                    "131320"
                ],
                "alias_name": null,
                "gene_symbol": "GATA3",
                "hgnc_symbol": "GATA3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:8095567-8117161",
                            "ensembl_id": "ENSG00000107485"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:8053604-8075198",
                            "ensembl_id": "ENSG00000107485"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-11-03"
            },
            "entity_type": "gene",
            "entity_name": "GATA3",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "10935639",
                "11389161",
                "28303854",
                "21834031",
                "19659764"
            ],
            "evidence": [
                "Radboud University Medical Center, Nijmegen",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services",
                "Expert Review Amber",
                "Expert list"
            ],
            "phenotypes": [
                "HDR syndrome",
                "Barakat syndrome",
                "Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255"
            ],
            "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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                        "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": []
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            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4396",
                "gene_name": "G protein subunit beta 1",
                "omim_gene": [
                    "139380"
                ],
                "alias_name": [
                    "transducin beta chain 1",
                    "guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1"
                ],
                "gene_symbol": "GNB1",
                "hgnc_symbol": "GNB1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:1716729-1822495",
                            "ensembl_id": "ENSG00000078369"
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                    },
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                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "GNB1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "27108799",
                "32134617"
            ],
            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "Expert list"
            ],
            "phenotypes": [
                "Intellectual developmental disorder, autosomal dominant 42, MIM# 616973"
            ],
            "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_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": [
                    "CGI-53",
                    "NGD5",
                    "dJ1028D15.1",
                    "NGD2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:15901",
                "gene_name": "intraflagellar transport 52",
                "omim_gene": [
                    "617094"
                ],
                "alias_name": null,
                "gene_symbol": "IFT52",
                "hgnc_symbol": "IFT52",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "20:42219571-42275936",
                            "ensembl_id": "ENSG00000101052"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "20:43590931-43647296",
                            "ensembl_id": "ENSG00000101052"
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                    }
                },
                "hgnc_date_symbol_changed": "2005-11-02"
            },
            "entity_type": "gene",
            "entity_name": "IFT52",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Amber"
            ],
            "phenotypes": [
                "SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY",
                "SRTD16"
            ],
            "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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                    {
                        "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": [
                    "KIAA0601",
                    "BHC110",
                    "LSD1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29079",
                "gene_name": "lysine demethylase 1A",
                "omim_gene": [
                    "609132"
                ],
                "alias_name": null,
                "gene_symbol": "KDM1A",
                "hgnc_symbol": "KDM1A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:23345941-23410182",
                            "ensembl_id": "ENSG00000004487"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:23019448-23083689",
                            "ensembl_id": "ENSG00000004487"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2009-09-29"
            },
            "entity_type": "gene",
            "entity_name": "KDM1A",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "23020937",
                "24838796",
                "26656649"
            ],
            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Cleft palate,psychomotor retardation,distinctive facial features, 616728"
            ],
            "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"
                ],
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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": [
                    "HGPS",
                    "MADA"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6636",
                "gene_name": "lamin A/C",
                "omim_gene": [
                    "150330"
                ],
                "alias_name": [
                    "mandibuloacral dysplasia type A"
                ],
                "gene_symbol": "LMNA",
                "hgnc_symbol": "LMNA",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:156052364-156109880",
                            "ensembl_id": "ENSG00000160789"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:156082573-156140089",
                            "ensembl_id": "ENSG00000160789"
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                    }
                },
                "hgnc_date_symbol_changed": "1992-04-09"
            },
            "entity_type": "gene",
            "entity_name": "LMNA",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
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            "evidence": [
                "Expert Review Amber"
            ],
            "phenotypes": [
                "RESTRICTIVE DERMOPATHY, LETHAL"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "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",
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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",
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                    {
                        "name": "Genetic Health Queensland",
                        "slug": "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": [
                    "KIAA1025",
                    "TRAP240L"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:22962",
                "gene_name": "mediator complex subunit 13 like",
                "omim_gene": [
                    "608771"
                ],
                "alias_name": null,
                "gene_symbol": "MED13L",
                "hgnc_symbol": "MED13L",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:116395711-116715143",
                            "ensembl_id": "ENSG00000123066"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:115953872-116277338",
                            "ensembl_id": "ENSG00000123066"
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                    }
                },
                "hgnc_date_symbol_changed": "2007-07-30"
            },
            "entity_type": "gene",
            "entity_name": "MED13L",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "25712080",
                "25137640"
            ],
            "evidence": [
                "Expert Review Amber",
                "Victorian Clinical Genetics Services"
            ],
            "phenotypes": [
                "Mental retardation and distinctive facial features with or without cardiac defects, 616789",
                "Cleft palate",
                "MRFACD"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "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.",
                "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",
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                        "description": "Panel used by GHQ."
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                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
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        },
        {
            "gene_data": {
                "alias": [
                    "ARC92",
                    "ACID1",
                    "TCBAP0758",
                    "DKFZp434K0512"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:28845",
                "gene_name": "mediator complex subunit 25",
                "omim_gene": [
                    "610197"
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                "alias_name": null,
                "gene_symbol": "MED25",
                "hgnc_symbol": "MED25",
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                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:50321539-50342073",
                            "ensembl_id": "ENSG00000104973"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "19:49818279-49838816",
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                "hgnc_date_symbol_changed": "2004-11-09"
            },
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                "25792360"
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                "Expert Review Amber"
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            "phenotypes": [
                "BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME",
                "BVSYS"
            ],
            "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.",
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                "version_created": "2026-02-24T14:38:08.760295+11:00",
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                        "name": "Genetic Health Queensland",
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            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "MOX1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7013",
                "gene_name": "mesenchyme homeobox 1",
                "omim_gene": [
                    "600147"
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                            "location": "3:155093369-155462856",
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                    }
                },
                "hgnc_date_symbol_changed": "2006-03-16"
            },
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                "Literature"
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                "version_created": "2026-02-24T14:38:08.760295+11:00",
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                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
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                    {
                        "name": "Genetic Health Queensland",
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                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
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        {
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                "biotype": "protein_coding",
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                "omim_gene": [
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                "Expert list"
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                "Auriculocondylar syndrome 1, OMIM #602483"
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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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                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
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                    {
                        "name": "Genetic Health Queensland",
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                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:18708",
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                    "604597"
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                "alias_name": null,
                "gene_symbol": "GRIP1",
                "hgnc_symbol": "GRIP1",
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                "ensembl_genes": {
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                            "location": "12:66741211-67197966",
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                "18000968"
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                "Fraser syndrome, 219000"
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            "panel": {
                "id": 3368,
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                "version_created": "2026-02-24T14:38:08.760295+11:00",
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                    "number_of_strs": 2,
                    "number_of_regions": 5
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
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                        "name": "Genetic Health Queensland",
                        "slug": "genetic-health-queensland",
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                        "name": "Rare Disease",
                        "slug": "rare-disease",
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                ],
                "child_panel_ids": []
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        {
            "gene_data": {
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                "hgnc_id": "HGNC:5103",
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                "hgnc_symbol": "HOXA2",
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                "ensembl_genes": {
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                            "location": "7:27139721-27142430",
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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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                "child_panel_ids": []
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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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                        "description": "Rare disease panels"
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        {
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                "hgnc_id": "HGNC:24565",
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                "Koolen-De Vries syndrome, 610443"
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                "version_created": "2026-02-24T14:38:08.760295+11:00",
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                    "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": []
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            "transcript": null
        },
        {
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                    "querkopf",
                    "qkf",
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                "hgnc_id": "HGNC:17582",
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                            "ensembl_id": "ENSG00000156650"
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            "entity_type": "gene",
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                "32424177",
                "37010288"
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            "evidence": [
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
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            "panel": {
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                        "slug": "victorian-clinical-genetics-services",
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                        "name": "Genetic Health Queensland",
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                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
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        {
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                    "OBP-2"
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                "Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546"
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                        "name": "Victorian Clinical Genetics Services",
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                        "name": "Genetic Health Queensland",
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                        "name": "Rare Disease",
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                        "description": "Rare disease panels"
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                "child_panel_ids": []
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        {
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                "gene_symbol": "PSAT1",
                "hgnc_symbol": "PSAT1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:80912059-80945009",
                            "ensembl_id": "ENSG00000135069"
                        }
                    },
                    "GRch38": {
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                            "location": "9:78297143-78330093",
                            "ensembl_id": "ENSG00000135069"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-05-19"
            },
            "entity_type": "gene",
            "entity_name": "PSAT1",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "25152457"
            ],
            "evidence": [
                "Expert Review Red",
                "Expert list"
            ],
            "phenotypes": [
                "Neu-Laxova syndrome 2, 616038"
            ],
            "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
                },
                "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": {
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                    "KIAA0024",
                    "PSSA",
                    "PSS1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9587",
                "gene_name": "phosphatidylserine synthase 1",
                "omim_gene": [
                    "612792"
                ],
                "alias_name": null,
                "gene_symbol": "PTDSS1",
                "hgnc_symbol": "PTDSS1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:97273943-97349223",
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                    },
                    "GRch38": {
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                    }
                },
                "hgnc_date_symbol_changed": "2000-01-21"
            },
            "entity_type": "gene",
            "entity_name": "PTDSS1",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
            "publications": [
                "25363158",
                "15194948",
                "26117586",
                "24241535"
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            "evidence": [
                "Expert Review Red",
                "Expert list"
            ],
            "phenotypes": [
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                "dental enamel hypoplasia",
                "growth restriction",
                "Lenz-Majewski hyperostotic dwarfism, 151050",
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                "proximal symphalangism cutis laxa",
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                "brachydactyly of fingers and toes"
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            "panel": {
                "id": 3368,
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                "name": "Clefting disorders",
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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": [
                    "DKFZP434A139",
                    "SMS",
                    "KIAA1820",
                    "MGC12824"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9834",
                "gene_name": "retinoic acid induced 1",
                "omim_gene": [
                    "607642"
                ],
                "alias_name": null,
                "gene_symbol": "RAI1",
                "hgnc_symbol": "RAI1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "17:17584787-17714767",
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                    },
                    "GRch38": {
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                    }
                },
                "hgnc_date_symbol_changed": "1999-04-16"
            },
            "entity_type": "gene",
            "entity_name": "RAI1",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red"
            ],
            "phenotypes": [
                "SMS",
                "SMITH-MAGENIS SYNDROME"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "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",
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                    "Oral cleft HP:0000202"
                ],
                "stats": {
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                    "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": [
                    "ZNRP",
                    "BOV-1A",
                    "BOV-1B",
                    "BOV-1C",
                    "RBM8B",
                    "Y14"
                ],
                "biotype": null,
                "hgnc_id": "HGNC:9905",
                "gene_name": "RNA binding motif protein 8A",
                "omim_gene": [
                    "605313"
                ],
                "alias_name": null,
                "gene_symbol": "RBM8A",
                "hgnc_symbol": "RBM8A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:145507598-145513536",
                            "ensembl_id": "ENSG00000131795"
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                    },
                    "GRch38": {
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                            "location": "1:145917714-145927678",
                            "ensembl_id": "ENSG00000265241"
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                    }
                },
                "hgnc_date_symbol_changed": "1999-05-05"
            },
            "entity_type": "gene",
            "entity_name": "RBM8A",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red"
            ],
            "phenotypes": [
                "TAR",
                "THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME"
            ],
            "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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                "stats": {
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                    "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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                        "description": "Panel used by GHQ."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
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                    "L11"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10301",
                "gene_name": "ribosomal protein L11",
                "omim_gene": [
                    "604175"
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                "alias_name": null,
                "gene_symbol": "RPL11",
                "hgnc_symbol": "RPL11",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:24018269-24022915",
                            "ensembl_id": "ENSG00000142676"
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                    },
                    "GRch38": {
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                            "location": "1:23691779-23696425",
                            "ensembl_id": "ENSG00000142676"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-07-23"
            },
            "entity_type": "gene",
            "entity_name": "RPL11",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Amber",
                "Expert list"
            ],
            "phenotypes": [
                "Diamond-Blackfan anemia 7, MIM# 612562",
                "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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                },
                "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": [
                    "RPS17L1",
                    "RPS17L2",
                    "MGC72007",
                    "S17"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10397",
                "gene_name": "ribosomal protein S17",
                "omim_gene": [
                    "180472"
                ],
                "alias_name": null,
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                "hgnc_symbol": "RPS17",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "15:83205504-83209315",
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                    },
                    "GRch38": {
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                    }
                },
                "hgnc_date_symbol_changed": "1991-11-29"
            },
            "entity_type": "gene",
            "entity_name": "RPS17",
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            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red"
            ],
            "phenotypes": [
                "DIAMOND-BLACKFAN ANEMIA 4",
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
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            "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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                "stats": {
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                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Genetic Health Queensland",
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                        "description": "Panel used by GHQ."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "DBA",
                    "S19"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10402",
                "gene_name": "ribosomal protein S19",
                "omim_gene": [
                    "603474"
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                "alias_name": [
                    "Diamond-Blackfan anemia"
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                "gene_symbol": "RPS19",
                "hgnc_symbol": "RPS19",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                    },
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                    }
                },
                "hgnc_date_symbol_changed": "1998-07-22"
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            "entity_type": "gene",
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            "mode_of_pathogenicity": "",
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            "evidence": [
                "Expert Review Red"
            ],
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                "DIAMOND-BLACKFAN ANEMIA 1"
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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."
                    },
                    {
                        "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": [
                    "MGC35555"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:28583",
                "gene_name": "R-spondin 2",
                "omim_gene": [
                    "610575"
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                "alias_name": null,
                "gene_symbol": "RSPO2",
                "hgnc_symbol": "RSPO2",
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                "ensembl_genes": {
                    "GRch37": {
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                    "GRch38": {
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                    }
                },
                "hgnc_date_symbol_changed": "2005-08-08"
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            "entity_type": "gene",
            "entity_name": "RSPO2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
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            ],
            "evidence": [
                "Expert Review Green",
                "Expert list"
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                "Cleft lip and palate"
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            "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",
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                "version_created": "2026-02-24T14:38:08.760295+11:00",
                "relevant_disorders": [
                    "Oral cleft HP:0000202"
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                },
                "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": [
                    "KIAA1724",
                    "SELI",
                    "SEPI"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29361",
                "gene_name": "selenoprotein I",
                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "SELENOI",
                "hgnc_symbol": "SELENOI",
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                "ensembl_genes": {
                    "GRch37": {
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                    }
                },
                "hgnc_date_symbol_changed": "2016-09-21"
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            "entity_type": "gene",
            "entity_name": "SELENOI",
            "confidence_level": "1",
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