Search Genes

GET /api/v1/genes/?format=api&page=153
HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept

{
    "count": 35558,
    "next": "https://panelapp-aus.org/api/v1/genes/?format=api&page=154",
    "previous": "https://panelapp-aus.org/api/v1/genes/?format=api&page=152",
    "results": [
        {
            "gene_data": {
                "alias": [
                    "BUBR1",
                    "MAD3L",
                    "Bub1A",
                    "SSK1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1149",
                "gene_name": "BUB1 mitotic checkpoint serine/threonine kinase B",
                "omim_gene": [
                    "602860"
                ],
                "alias_name": null,
                "gene_symbol": "BUB1B",
                "hgnc_symbol": "BUB1B",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:40453224-40513337",
                            "ensembl_id": "ENSG00000156970"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:40161023-40221136",
                            "ensembl_id": "ENSG00000156970"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-03-25"
            },
            "entity_type": "gene",
            "entity_name": "BUB1B",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Victorian Clinical Genetics Services",
                "Expert Review Green"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "Unknown",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "GRCC10",
                    "C10"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29521",
                "gene_name": "chromosome 12 open reading frame 57",
                "omim_gene": [
                    "615140"
                ],
                "alias_name": [
                    "gene rich cluster C10 gene"
                ],
                "gene_symbol": "C12orf57",
                "hgnc_symbol": "C12orf57",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:7052141-7055166",
                            "ensembl_id": "ENSG00000111678"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:6942978-6946003",
                            "ensembl_id": "ENSG00000111678"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-01-27"
            },
            "entity_type": "gene",
            "entity_name": "C12orf57",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Victorian Clinical Genetics Services",
                "Expert Review Green"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "Unknown",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ38663",
                    "SPG55"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26784",
                "gene_name": "chromosome 12 open reading frame 65",
                "omim_gene": [
                    "613541"
                ],
                "alias_name": null,
                "gene_symbol": "C12orf65",
                "hgnc_symbol": "C12orf65",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:123717463-123742506",
                            "ensembl_id": "ENSG00000130921"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:123232916-123257959",
                            "ensembl_id": "ENSG00000130921"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-02-26"
            },
            "entity_type": "gene",
            "entity_name": "C12orf65",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Victorian Clinical Genetics Services",
                "Expert Review Green"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "Unknown",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "DKFZP586P0123"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:24564",
                "gene_name": "C2 calcium dependent domain containing 3",
                "omim_gene": [
                    "615944"
                ],
                "alias_name": null,
                "gene_symbol": "C2CD3",
                "hgnc_symbol": "C2CD3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:73723763-73882255",
                            "ensembl_id": "ENSG00000168014"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:74012714-74171210",
                            "ensembl_id": "ENSG00000168014"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-10-17"
            },
            "entity_type": "gene",
            "entity_name": "C2CD3",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Victorian Clinical Genetics Services",
                "Expert Review Green"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "Unknown",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "LIN2",
                    "CAGH39",
                    "FGS4"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1497",
                "gene_name": "calcium/calmodulin dependent serine protein kinase",
                "omim_gene": [
                    "300172"
                ],
                "alias_name": null,
                "gene_symbol": "CASK",
                "hgnc_symbol": "CASK",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:41374187-41782716",
                            "ensembl_id": "ENSG00000147044"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:41514934-41923463",
                            "ensembl_id": "ENSG00000147044"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-09-25"
            },
            "entity_type": "gene",
            "entity_name": "CASK",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Victorian Clinical Genetics Services",
                "Expert Review Green"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "Unknown",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1583",
                "gene_name": "cyclin D2",
                "omim_gene": [
                    "123833"
                ],
                "alias_name": [
                    "G1/S-specific cyclin D2"
                ],
                "gene_symbol": "CCND2",
                "hgnc_symbol": "CCND2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:4382938-4414516",
                            "ensembl_id": "ENSG00000118971"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:4273772-4305350",
                            "ensembl_id": "ENSG00000118971"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-12-10"
            },
            "entity_type": "gene",
            "entity_name": "CCND2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Victorian Clinical Genetics Services",
                "Expert Review Green"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "Unknown",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "TACTILE"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:16892",
                "gene_name": "CD96 molecule",
                "omim_gene": [
                    "606037"
                ],
                "alias_name": null,
                "gene_symbol": "CD96",
                "hgnc_symbol": "CD96",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:111011566-111384597",
                            "ensembl_id": "ENSG00000153283"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:111292719-111665750",
                            "ensembl_id": "ENSG00000153283"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-01-22"
            },
            "entity_type": "gene",
            "entity_name": "CD96",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "17847009"
            ],
            "evidence": [
                "Expert Review Amber",
                "Genetic Health Queensland",
                "Victorian Clinical Genetics Services"
            ],
            "phenotypes": [
                "C syndrome, MIM#211750"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "PSSALRE"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1774",
                "gene_name": "cyclin dependent kinase 5",
                "omim_gene": [
                    "123831"
                ],
                "alias_name": null,
                "gene_symbol": "CDK5",
                "hgnc_symbol": "CDK5",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:150750899-150755617",
                            "ensembl_id": "ENSG00000164885"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:151053812-151058530",
                            "ensembl_id": "ENSG00000164885"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-07-28"
            },
            "entity_type": "gene",
            "entity_name": "CDK5",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "25560765",
                "40186457",
                "32273484",
                "32097629",
                "28854363",
                "7490100"
            ],
            "evidence": [
                "Expert Review Green",
                "Victorian Clinical Genetics Services"
            ],
            "phenotypes": [
                "Lissencephaly 7 with cerebellar hypoplasia, MIM# 616342"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "C48",
                    "FLJ10867",
                    "CEP215"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:18672",
                "gene_name": "CDK5 regulatory subunit associated protein 2",
                "omim_gene": [
                    "608201"
                ],
                "alias_name": [
                    "centrosomin"
                ],
                "gene_symbol": "CDK5RAP2",
                "hgnc_symbol": "CDK5RAP2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:123151147-123342448",
                            "ensembl_id": "ENSG00000136861"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:120388869-120580170",
                            "ensembl_id": "ENSG00000136861"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-07-22"
            },
            "entity_type": "gene",
            "entity_name": "CDK5RAP2",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "15793586",
                "22887808",
                "23995685",
                "23726037",
                "27761245",
                "20460369",
                "32677750",
                "32015000"
            ],
            "evidence": [
                "Expert Review Red",
                "Victorian Clinical Genetics Services"
            ],
            "phenotypes": [
                "Microcephaly 3, primary, autosomal recessive, MIM# 604804",
                "MONDO:0011488"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "ORCAM",
                    "CDO",
                    "CDON1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17104",
                "gene_name": "cell adhesion associated, oncogene regulated",
                "omim_gene": [
                    "608707"
                ],
                "alias_name": [
                    "cell adhesion molecule-related/down-regulated by oncogenes"
                ],
                "gene_symbol": "CDON",
                "hgnc_symbol": "CDON",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:125825691-125933230",
                            "ensembl_id": "ENSG00000064309"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:125955796-126063335",
                            "ensembl_id": "ENSG00000064309"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-11-02"
            },
            "entity_type": "gene",
            "entity_name": "CDON",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Victorian Clinical Genetics Services",
                "Expert Review Green"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "Unknown",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "hcp-1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1857",
                "gene_name": "centromere protein F",
                "omim_gene": [
                    "600236"
                ],
                "alias_name": [
                    "mitosin"
                ],
                "gene_symbol": "CENPF",
                "hgnc_symbol": "CENPF",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:214776538-214837931",
                            "ensembl_id": "ENSG00000117724"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:214603195-214664588",
                            "ensembl_id": "ENSG00000117724"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-07-04"
            },
            "entity_type": "gene",
            "entity_name": "CENPF",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Victorian Clinical Genetics Services",
                "Expert Review Green"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "Unknown",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CPAP",
                    "BM032",
                    "LAP",
                    "LIP1",
                    "Sas-4",
                    "SASS4",
                    "SCKL4"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17272",
                "gene_name": "centromere protein J",
                "omim_gene": [
                    "609279"
                ],
                "alias_name": [
                    "centrosomal P4.1-associated protein"
                ],
                "gene_symbol": "CENPJ",
                "hgnc_symbol": "CENPJ",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "13:25457171-25497018",
                            "ensembl_id": "ENSG00000151849"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "13:24882284-24922889",
                            "ensembl_id": "ENSG00000151849"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-02-15"
            },
            "entity_type": "gene",
            "entity_name": "CENPJ",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "20522431",
                "23166506",
                "15793586",
                "20978018",
                "22775483",
                "32677750",
                "32549991"
            ],
            "evidence": [
                "Expert Review Red",
                "Victorian Clinical Genetics Services"
            ],
            "phenotypes": [
                "Microcephaly 6, primary, autosomal recessive, MIM# 608393, MONDO:0012029",
                "Seckel syndrome 4, MIM# 613676, MONDO:0013358"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CDHN",
                    "CD325"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1759",
                "gene_name": "cadherin 2",
                "omim_gene": [
                    "114020"
                ],
                "alias_name": [
                    "N-cadherin"
                ],
                "gene_symbol": "CDH2",
                "hgnc_symbol": "CDH2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "18:25530930-25757410",
                            "ensembl_id": "ENSG00000170558"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "18:27950966-28177446",
                            "ensembl_id": "ENSG00000170558"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-09-13"
            },
            "entity_type": "gene",
            "entity_name": "CDH2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "31585109"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Intellectual disability",
                "corpus callosum abnormalities",
                "congenital abnormalities",
                "Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MIM#\t618929"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "SAST",
                    "KIAA0973"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:19034",
                "gene_name": "microtubule associated serine/threonine kinase 1",
                "omim_gene": [
                    "612256"
                ],
                "alias_name": null,
                "gene_symbol": "MAST1",
                "hgnc_symbol": "MAST1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:12944765-12985765",
                            "ensembl_id": "ENSG00000105613"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:12833951-12874951",
                            "ensembl_id": "ENSG00000105613"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-06-25"
            },
            "entity_type": "gene",
            "entity_name": "MAST1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "31721002",
                "30449657"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations",
                "OMIM #618273"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "FACT",
                    "FACTP140",
                    "SPT16/CDC68",
                    "FLJ14010",
                    "FLJ10857",
                    "CDC68"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11465",
                "gene_name": "SPT16 homolog, facilitates chromatin remodeling subunit",
                "omim_gene": [
                    "605012"
                ],
                "alias_name": [
                    "facilitates chromatin remodeling 140 kDa subunit"
                ],
                "gene_symbol": "SUPT16H",
                "hgnc_symbol": "SUPT16H",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:21819631-21852425",
                            "ensembl_id": "ENSG00000092201"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "14:21351472-21384266",
                            "ensembl_id": "ENSG00000092201"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1996-08-21"
            },
            "entity_type": "gene",
            "entity_name": "SUPT16H",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "31924697"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum, MIM# 619480",
                "Intellectual disability",
                "Abnormality of the corpus callosum"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "CRMP5",
                    "Ulip6",
                    "CRMP-5",
                    "CRAM"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:20637",
                "gene_name": "dihydropyrimidinase like 5",
                "omim_gene": [
                    "608383"
                ],
                "alias_name": null,
                "gene_symbol": "DPYSL5",
                "hgnc_symbol": "DPYSL5",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:27070615-27173219",
                            "ensembl_id": "ENSG00000157851"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:26847747-26950351",
                            "ensembl_id": "ENSG00000157851"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-03-12"
            },
            "entity_type": "gene",
            "entity_name": "DPYSL5",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "33894126"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Ritscher-Schinzel syndrome 4, MIM# 619435",
                "Neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13478",
                "gene_name": "ubiquitin protein ligase E3B",
                "omim_gene": [
                    "608047"
                ],
                "alias_name": null,
                "gene_symbol": "UBE3B",
                "hgnc_symbol": "UBE3B",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:109915207-109974507",
                            "ensembl_id": "ENSG00000151148"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:109477402-109536705",
                            "ensembl_id": "ENSG00000151148"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-03-02"
            },
            "entity_type": "gene",
            "entity_name": "UBE3B",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": null,
            "publications": [
                "32949109"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Kaufman oculocerebrofacial syndrome, MIM# 244450",
                "Blepharophimosis",
                "intellectual disability"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10852",
                "gene_name": "serine hydroxymethyltransferase 2",
                "omim_gene": [
                    "138450"
                ],
                "alias_name": null,
                "gene_symbol": "SHMT2",
                "hgnc_symbol": "SHMT2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:57623110-57628718",
                            "ensembl_id": "ENSG00000182199"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:57229327-57234935",
                            "ensembl_id": "ENSG00000182199"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "SHMT2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "33015733"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121",
                "Congenital microcephaly",
                "Infantile axial hypotonia",
                "Spastic paraparesis",
                "Global developmental delay",
                "Intellectual disability",
                "Abnormality of the corpus callosum",
                "Abnormal cortical gyration",
                "Hypertrophic cardiomyopathy",
                "Abnormality of the face",
                "Proximal placement of thumb",
                "2-3 toe syndactyly"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ20128"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14347",
                "gene_name": "BCAS3, microtubule associated cell migration factor",
                "omim_gene": [
                    "607470"
                ],
                "alias_name": [
                    "Rudhira"
                ],
                "gene_symbol": "BCAS3",
                "hgnc_symbol": "BCAS3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:58754814-59470199",
                            "ensembl_id": "ENSG00000141376"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:60677453-61392838",
                            "ensembl_id": "ENSG00000141376"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-01-09"
            },
            "entity_type": "gene",
            "entity_name": "BCAS3",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "34022130"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Hengel-Maroofian-Schols syndrome, MIM# 619641"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "NRB54",
                    "NMT55",
                    "P54NRB",
                    "P54",
                    "PPP1R114"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7871",
                "gene_name": "non-POU domain containing octamer binding",
                "omim_gene": [
                    "300084"
                ],
                "alias_name": [
                    "Nuclear RNA-binding protein, 54-kD",
                    "non-Pou domain-containing octamer (ATGCAAAT) binding protein",
                    "protein phosphatase 1, regulatory subunit 114"
                ],
                "gene_symbol": "NONO",
                "hgnc_symbol": "NONO",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:70503042-70521018",
                            "ensembl_id": "ENSG00000147140"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:71283192-71301168",
                            "ensembl_id": "ENSG00000147140"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-02-06"
            },
            "entity_type": "gene",
            "entity_name": "NONO",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "26571461",
                "27329731",
                "27550220"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Intellectual developmental disorder, X-linked syndromic 34 - MIM#300967"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CLC3",
                    "ClC-3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2021",
                "gene_name": "chloride voltage-gated channel 3",
                "omim_gene": [
                    "600580"
                ],
                "alias_name": null,
                "gene_symbol": "CLCN3",
                "hgnc_symbol": "CLCN3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:170533784-170644824",
                            "ensembl_id": "ENSG00000109572"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:169612633-169723673",
                            "ensembl_id": "ENSG00000109572"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-01-28"
            },
            "entity_type": "gene",
            "entity_name": "CLCN3",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "Other",
            "publications": [
                "34186028"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Neurodevelopmental disorder with hypotonia and brain abnormalities, MIM# 619512"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1162",
                "gene_name": "FRA10A associated CGG repeat 1",
                "omim_gene": [
                    "608866"
                ],
                "alias_name": null,
                "gene_symbol": "FRA10AC1",
                "hgnc_symbol": "FRA10AC1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:95427640-95462329",
                            "ensembl_id": "ENSG00000148690"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:93667883-93702572",
                            "ensembl_id": "ENSG00000148690"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2010-05-25"
            },
            "entity_type": "gene",
            "entity_name": "FRA10AC1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "34694367"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "DMC1",
                    "HID-1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:15736",
                "gene_name": "HID1 domain containing",
                "omim_gene": [
                    "605752"
                ],
                "alias_name": [
                    "downregulated in multiple cancer 1"
                ],
                "gene_symbol": "HID1",
                "hgnc_symbol": "HID1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:72946838-72969261",
                            "ensembl_id": "ENSG00000167861"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:74950743-74973166",
                            "ensembl_id": "ENSG00000167861"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2012-10-10"
            },
            "entity_type": "gene",
            "entity_name": "HID1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "33999436"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Developmental and epileptic encephalopathy 105 with hypopituitarism MIM#619983"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "BERF-1",
                    "ZBP-89",
                    "BFCOL1",
                    "HT-BETA",
                    "ZFP148",
                    "pHZ-52"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12933",
                "gene_name": "zinc finger protein 148",
                "omim_gene": [
                    "601897"
                ],
                "alias_name": null,
                "gene_symbol": "ZNF148",
                "hgnc_symbol": "ZNF148",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:124944405-125094198",
                            "ensembl_id": "ENSG00000163848"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:125225561-125375354",
                            "ensembl_id": "ENSG00000163848"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-03-16"
            },
            "entity_type": "gene",
            "entity_name": "ZNF148",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "27964749"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies",
                "MIM#617260"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "NG26",
                    "D6S82E"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13921",
                "gene_name": "abhydrolase domain containing 16A",
                "omim_gene": [
                    "142620"
                ],
                "alias_name": null,
                "gene_symbol": "ABHD16A",
                "hgnc_symbol": "ABHD16A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:31654726-31671221",
                            "ensembl_id": "ENSG00000204427"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:31686949-31703444",
                            "ensembl_id": "ENSG00000204427"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2010-12-09"
            },
            "entity_type": "gene",
            "entity_name": "ABHD16A",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "PMID: 34587489"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Spastic paraplegia 86, autosomal recessive, MIM# 619735",
                "Intellectual Disability",
                "Corpus callosum abnormalities"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "ABI-2",
                    "AIP-1",
                    "ABI2B",
                    "AblBP3",
                    "argBPIA",
                    "SSH3BP2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:24011",
                "gene_name": "abl interactor 2",
                "omim_gene": [
                    "606442"
                ],
                "alias_name": null,
                "gene_symbol": "ABI2",
                "hgnc_symbol": "ABI2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:204192942-204312446",
                            "ensembl_id": "ENSG00000138443"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:203328219-203447723",
                            "ensembl_id": "ENSG00000138443"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-03-11"
            },
            "entity_type": "gene",
            "entity_name": "ABI2",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "40475134"
            ],
            "evidence": [
                "Expert Review Amber",
                "Literature",
                "Literature"
            ],
            "phenotypes": [
                "Neurodevelopmental disorder, MONDO:0700092, ABI2-related"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "BLOC1S7",
                    "BORCS3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17145",
                "gene_name": "SNAP associated protein",
                "omim_gene": [
                    "607007"
                ],
                "alias_name": [
                    "snapin",
                    "SNAP-25-binding protein",
                    "biogenesis of lysosomal organelles complex-1, subunit 7"
                ],
                "gene_symbol": "SNAPIN",
                "hgnc_symbol": "SNAPIN",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:153631130-153634306",
                            "ensembl_id": "ENSG00000143553"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:153658654-153661830",
                            "ensembl_id": "ENSG00000143553"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-11-14"
            },
            "entity_type": "gene",
            "entity_name": "SNAPIN",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "40930097",
                "26539891"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, MIM# 621393"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "PI31"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9571",
                "gene_name": "proteasome inhibitor subunit 1",
                "omim_gene": null,
                "alias_name": [
                    "proteasome inhibitor hP131 subunit"
                ],
                "gene_symbol": "PSMF1",
                "hgnc_symbol": "PSMF1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "20:1093906-1160596",
                            "ensembl_id": "ENSG00000125818"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "20:1113263-1189415",
                            "ensembl_id": "ENSG00000125818"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-04-15"
            },
            "entity_type": "gene",
            "entity_name": "PSMF1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": null,
            "publications": [
                "doi: 10.1101/2024.06.19.24308302"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "TRX1",
                    "HRX",
                    "ALL-1",
                    "HTRX1",
                    "CXXC7",
                    "MLL1A"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7132",
                "gene_name": "lysine methyltransferase 2A",
                "omim_gene": [
                    "159555"
                ],
                "alias_name": null,
                "gene_symbol": "KMT2A",
                "hgnc_symbol": "KMT2A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:118307205-118397539",
                            "ensembl_id": "ENSG00000118058"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:118436490-118526832",
                            "ensembl_id": "ENSG00000118058"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2013-05-09"
            },
            "entity_type": "gene",
            "entity_name": "KMT2A",
            "confidence_level": "3",
            "penetrance": "Incomplete",
            "mode_of_pathogenicity": null,
            "publications": [
                "32641752"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Wiedemann-Steiner syndrome, MIM# 605130"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CG22",
                    "CKAPI"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1989",
                "gene_name": "tubulin folding cofactor B",
                "omim_gene": [
                    "601303"
                ],
                "alias_name": null,
                "gene_symbol": "TBCB",
                "hgnc_symbol": "TBCB",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:36605191-36616849",
                            "ensembl_id": "ENSG00000105254"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:36114289-36125947",
                            "ensembl_id": "ENSG00000105254"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-11-22"
            },
            "entity_type": "gene",
            "entity_name": "TBCB",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "PMID: 40856104"
            ],
            "evidence": [
                "Expert Review Amber",
                "Literature"
            ],
            "phenotypes": [
                "Neurodevelopmental disorder with behavioural abnormalities and childhood onset spastic paraplegia, MIM# 621382"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "KIAA1360",
                    "CVAK104"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:19286",
                "gene_name": "SCY1 like pseudokinase 2",
                "omim_gene": [
                    "616365"
                ],
                "alias_name": [
                    "coated vesicle-associated kinase of 104 kDa"
                ],
                "gene_symbol": "SCYL2",
                "hgnc_symbol": "SCYL2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:100660918-100735502",
                            "ensembl_id": "ENSG00000136021"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:100267140-100341724",
                            "ensembl_id": "ENSG00000136021"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-01-20"
            },
            "entity_type": "gene",
            "entity_name": "SCYL2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "31960134",
                "26203146",
                "40243816",
                "39169672"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature",
                "Literature"
            ],
            "phenotypes": [
                "Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, MIM# 618766"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ10996"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25611",
                "gene_name": "coiled-coil domain containing 93",
                "omim_gene": null,
                "alias_name": null,
                "gene_symbol": "CCDC93",
                "hgnc_symbol": "CCDC93",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:118673054-118771709",
                            "ensembl_id": "ENSG00000125633"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:117915478-118014133",
                            "ensembl_id": "ENSG00000125633"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-03-24"
            },
            "entity_type": "gene",
            "entity_name": "CCDC93",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "PMID: 40601774"
            ],
            "evidence": [
                "Expert Review Red",
                "Literature"
            ],
            "phenotypes": [
                "Ritscher-Schinzel syndrome, MONDO:0019078, CCDC93-related"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CAGL85",
                    "Beta3",
                    "bHLHe22"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11963",
                "gene_name": "basic helix-loop-helix family member e22",
                "omim_gene": [
                    "613483"
                ],
                "alias_name": null,
                "gene_symbol": "BHLHE22",
                "hgnc_symbol": "BHLHE22",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:65492814-65496181",
                            "ensembl_id": "ENSG00000180828"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "8:64580367-64583628",
                            "ensembl_id": "ENSG00000180828"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2009-01-12"
            },
            "entity_type": "gene",
            "entity_name": "BHLHE22",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "39502664"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Neurodevelopmental disorder, MONDO:0700092, BHLHE22-related"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ20452"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26027",
                "gene_name": "COMM domain containing 4",
                "omim_gene": [
                    "616701"
                ],
                "alias_name": null,
                "gene_symbol": "COMMD4",
                "hgnc_symbol": "COMMD4",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:75628232-75634268",
                            "ensembl_id": "ENSG00000140365"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:75335891-75343224",
                            "ensembl_id": "ENSG00000140365"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-02-13"
            },
            "entity_type": "gene",
            "entity_name": "COMMD4",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "40601774"
            ],
            "evidence": [
                "Expert Review Red",
                "Literature"
            ],
            "phenotypes": [
                "Ritscher-Schinzel syndrome, MONDO:0019078, COMMD4-related"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "HS5O6A",
                    "DKFZP586A1024",
                    "FM08"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1310",
                "gene_name": "transmembrane protein 184B",
                "omim_gene": null,
                "alias_name": null,
                "gene_symbol": "TMEM184B",
                "hgnc_symbol": "TMEM184B",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "22:38615298-38669040",
                            "ensembl_id": "ENSG00000198792"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "22:38219291-38273034",
                            "ensembl_id": "ENSG00000198792"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-07-11"
            },
            "entity_type": "gene",
            "entity_name": "TMEM184B",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "39006436"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Neurodevelopmental disorder (MONDO:0700092), TMEM184B-related"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "humS6PKh1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10439",
                "gene_name": "ribosomal protein S6 kinase C1",
                "omim_gene": [
                    "617517"
                ],
                "alias_name": null,
                "gene_symbol": "RPS6KC1",
                "hgnc_symbol": "RPS6KC1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:213224589-213448116",
                            "ensembl_id": "ENSG00000136643"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:213051233-213274773",
                            "ensembl_id": "ENSG00000136643"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-12-14"
            },
            "entity_type": "gene",
            "entity_name": "RPS6KC1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "41130203"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature",
                "Literature"
            ],
            "phenotypes": [
                "Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, MIM# 621460"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "SBA2",
                    "MGC10210"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:19222",
                "gene_name": "WD repeat and SOCS box containing 2",
                "omim_gene": null,
                "alias_name": null,
                "gene_symbol": "WSB2",
                "hgnc_symbol": "WSB2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:118470712-118500235",
                            "ensembl_id": "ENSG00000176871"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:118032694-118062430",
                            "ensembl_id": "ENSG00000176871"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-02-20"
            },
            "entity_type": "gene",
            "entity_name": "WSB2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "PMID: 40374945"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Luo-Agrawal neurodevelopmental syndrome, MIM# 621552"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "MAP5",
                    "PPP1R102"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6836",
                "gene_name": "microtubule associated protein 1B",
                "omim_gene": [
                    "157129"
                ],
                "alias_name": [
                    "protein phosphatase 1, regulatory subunit 102"
                ],
                "gene_symbol": "MAP1B",
                "hgnc_symbol": "MAP1B",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:71403061-71505395",
                            "ensembl_id": "ENSG00000131711"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:72107234-72209570",
                            "ensembl_id": "ENSG00000131711"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-02-06"
            },
            "entity_type": "gene",
            "entity_name": "MAP1B",
            "confidence_level": "3",
            "penetrance": "Incomplete",
            "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": [
                "PMID: 30150678",
                "PMID: 31317654"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Periventricular nodular heterotopia 9, MIM# 618918"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "KIAA0893"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29141",
                "gene_name": "WD repeat domain 47",
                "omim_gene": [
                    "615734"
                ],
                "alias_name": [
                    "nemitin"
                ],
                "gene_symbol": "WDR47",
                "hgnc_symbol": "WDR47",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:109512836-109584850",
                            "ensembl_id": "ENSG00000085433"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:108970214-109042113",
                            "ensembl_id": "ENSG00000085433"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-11-12"
            },
            "entity_type": "gene",
            "entity_name": "WDR47",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "39609633"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Complex neurodevelopmental disorder MONDO:0100038, WDR47-related"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ20052"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:19349",
                "gene_name": "kinesin family member 21A",
                "omim_gene": [
                    "608283"
                ],
                "alias_name": null,
                "gene_symbol": "KIF21A",
                "hgnc_symbol": "KIF21A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:39687030-39837192",
                            "ensembl_id": "ENSG00000139116"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:39293228-39443390",
                            "ensembl_id": "ENSG00000139116"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-10-08"
            },
            "entity_type": "gene",
            "entity_name": "KIF21A",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "37921537",
                "39643435",
                "41282472",
                "32141982",
                "24715754",
                "36494820",
                "22699964"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Fibrosis of extraocular muscles, congenital, 1/3B, MIM#135700"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "NCoA-62",
                    "SKIP",
                    "Prp45",
                    "PRPF45",
                    "Bx42",
                    "SKIP1",
                    "FUN20"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:16696",
                "gene_name": "SNW domain containing 1",
                "omim_gene": [
                    "603055"
                ],
                "alias_name": null,
                "gene_symbol": "SNW1",
                "hgnc_symbol": "SNW1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:78183942-78227550",
                            "ensembl_id": "ENSG00000100603"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "14:77717599-77761207",
                            "ensembl_id": "ENSG00000100603"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-09-13"
            },
            "entity_type": "gene",
            "entity_name": "SNW1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "40608414"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Neurodevelopmental disorder (MONDO:0700092), SNW1-related"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "TAFII150",
                    "CIF150"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11536",
                "gene_name": "TATA-box binding protein associated factor 2",
                "omim_gene": [
                    "604912"
                ],
                "alias_name": null,
                "gene_symbol": "TAF2",
                "hgnc_symbol": "TAF2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:120743015-120845103",
                            "ensembl_id": "ENSG00000064313"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "8:119730775-119832863",
                            "ensembl_id": "ENSG00000064313"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-12-07"
            },
            "entity_type": "gene",
            "entity_name": "TAF2",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "Other",
            "publications": [
                "PMID: 34474177"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Intellectual development disorder, autosomal recessive 40, MIM# 615599"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:30846",
                "gene_name": "transmembrane protease, serine 7",
                "omim_gene": null,
                "alias_name": null,
                "gene_symbol": "TMPRSS7",
                "hgnc_symbol": "TMPRSS7",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:111753690-111800116",
                            "ensembl_id": "ENSG00000176040"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:112034843-112081269",
                            "ensembl_id": "ENSG00000176040"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-12-17"
            },
            "entity_type": "gene",
            "entity_name": "TMPRSS7",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "40796295"
            ],
            "evidence": [
                "Expert Review Red",
                "Literature",
                "Literature"
            ],
            "phenotypes": [
                "Neurodevelopmental disorder, TMPRSS7-related"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "EAP30",
                    "VPS22",
                    "Dot3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17028",
                "gene_name": "SNF8, ESCRT-II complex subunit",
                "omim_gene": [
                    "610904"
                ],
                "alias_name": null,
                "gene_symbol": "SNF8",
                "hgnc_symbol": "SNF8",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:47006678-47022479",
                            "ensembl_id": "ENSG00000159210"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:48929316-48945117",
                            "ensembl_id": "ENSG00000159210"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-08-02"
            },
            "entity_type": "gene",
            "entity_name": "SNF8",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "38423010"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Developmental and epileptic encephalopathy 115, MIM#620783"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ45465"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12851",
                "gene_name": "tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon",
                "omim_gene": [
                    "605066"
                ],
                "alias_name": [
                    "14-3-3 epsilon"
                ],
                "gene_symbol": "YWHAE",
                "hgnc_symbol": "YWHAE",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:1247566-1303672",
                            "ensembl_id": "ENSG00000108953"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:1344272-1400378",
                            "ensembl_id": "ENSG00000108953"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-09-20"
            },
            "entity_type": "gene",
            "entity_name": "YWHAE",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "36999555",
                "20452996",
                "19584063",
                "20599530"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Neurodevelopmental disorder, MONDO:0700092"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8049",
                "gene_name": "nudix hydrolase 2",
                "omim_gene": [
                    "602852"
                ],
                "alias_name": [
                    "Ap4A hydrolase 1",
                    "Ap4Aase",
                    "bis(5'-nucleosyl)-tetraphosphatase (asymmetrical)",
                    "diadenosine tetraphosphatase",
                    "diadenosine 5',5''-P1,P4-tetraphosphate pyrophosphohydrolase"
                ],
                "gene_symbol": "NUDT2",
                "hgnc_symbol": "NUDT2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:34329504-34343709",
                            "ensembl_id": "ENSG00000164978"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:34329506-34343713",
                            "ensembl_id": "ENSG00000164978"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-04-25"
            },
            "entity_type": "gene",
            "entity_name": "NUDT2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "PMID: 38141063"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Intellectual developmental disorder with or without peripheral neuropathy MIM#619844"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "MSSK1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11402",
                "gene_name": "SRSF protein kinase 3",
                "omim_gene": [
                    "301002"
                ],
                "alias_name": null,
                "gene_symbol": "SRPK3",
                "hgnc_symbol": "SRPK3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:153041867-153051187",
                            "ensembl_id": "ENSG00000184343"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:153776412-153785732",
                            "ensembl_id": "ENSG00000184343"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-08-17"
            },
            "entity_type": "gene",
            "entity_name": "SRPK3",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "39073169"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Intellectual developmental disorder, X-linked, 114, MIM#301134"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "KIAA1890",
                    "PPP1R24"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14026",
                "gene_name": "CUB and Sushi multiple domains 1",
                "omim_gene": [
                    "608397"
                ],
                "alias_name": [
                    "protein phosphatase 1, regulatory subunit 24"
                ],
                "gene_symbol": "CSMD1",
                "hgnc_symbol": "CSMD1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:2792875-4852494",
                            "ensembl_id": "ENSG00000183117"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "8:2935353-4994972",
                            "ensembl_id": "ENSG00000183117"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-12-21"
            },
            "entity_type": "gene",
            "entity_name": "CSMD1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "PMID: 38816421"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "complex neurodevelopmental disorder MONDO:0100038"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8590",
                "gene_name": "p21 (RAC1) activated kinase 1",
                "omim_gene": [
                    "602590"
                ],
                "alias_name": [
                    "STE20 homolog, yeast"
                ],
                "gene_symbol": "PAK1",
                "hgnc_symbol": "PAK1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:77032752-77185680",
                            "ensembl_id": "ENSG00000149269"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:77321707-77474635",
                            "ensembl_id": "ENSG00000149269"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-12-05"
            },
            "entity_type": "gene",
            "entity_name": "PAK1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "37820543"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Intellectual developmental disorder with macrocephaly, seizures, and speech delay (MIM 618158)"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FBP21",
                    "MGC117310"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12739",
                "gene_name": "WW domain binding protein 4",
                "omim_gene": [
                    "604981"
                ],
                "alias_name": [
                    "formin binding protein 21"
                ],
                "gene_symbol": "WBP4",
                "hgnc_symbol": "WBP4",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "13:41635410-41658137",
                            "ensembl_id": "ENSG00000120688"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "13:41061274-41084006",
                            "ensembl_id": "ENSG00000120688"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-09-16"
            },
            "entity_type": "gene",
            "entity_name": "WBP4",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "PMID: 37425688"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Neurodevelopmental disorder, MONDO:0700092, WBP4-related"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "RAB39",
                    "RAH",
                    "NARR"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:16519",
                "gene_name": "RAB34, member RAS oncogene family",
                "omim_gene": [
                    "610917"
                ],
                "alias_name": [
                    "nine-amino acid residue-repeats"
                ],
                "gene_symbol": "RAB34",
                "hgnc_symbol": "RAB34",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:27041299-27045447",
                            "ensembl_id": "ENSG00000109113"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:28714281-28718429",
                            "ensembl_id": "ENSG00000109113"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-09-14"
            },
            "entity_type": "gene",
            "entity_name": "RAB34",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": null,
            "publications": [
                "PMID: 37384395"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Orofaciodigital syndrome 20, MIM#620718"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "U2AF65"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:23156",
                "gene_name": "U2 small nuclear RNA auxiliary factor 2",
                "omim_gene": [
                    "191318"
                ],
                "alias_name": [
                    "U2 small nuclear ribonucleoprotein auxiliary factor (65kD)",
                    "splicing factor U2AF 65 kD subunit",
                    "U2 snRNP auxiliary factor large subunit"
                ],
                "gene_symbol": "U2AF2",
                "hgnc_symbol": "U2AF2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:56165512-56186081",
                            "ensembl_id": "ENSG00000063244"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:55654146-55674715",
                            "ensembl_id": "ENSG00000063244"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-10-28"
            },
            "entity_type": "gene",
            "entity_name": "U2AF2",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "34112922",
                "37092751",
                "36747105",
                "37134193"
            ],
            "evidence": [
                "Expert Review Amber",
                "Literature"
            ],
            "phenotypes": [
                "Developmental delay, dysmorphic facies, and brain anomalies, MIM# 620535"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "NBCn2",
                    "NCBE"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13811",
                "gene_name": "solute carrier family 4 member 10",
                "omim_gene": [
                    "605556"
                ],
                "alias_name": null,
                "gene_symbol": "SLC4A10",
                "hgnc_symbol": "SLC4A10",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:162280843-162841792",
                            "ensembl_id": "ENSG00000144290"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:161424332-161985282",
                            "ensembl_id": "ENSG00000144290"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-11-09"
            },
            "entity_type": "gene",
            "entity_name": "SLC4A10",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "PMID: 37459438"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, MIM# 620746"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "PAM",
                    "KIAA0916",
                    "FLJ10106"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:23386",
                "gene_name": "MYC binding protein 2, E3 ubiquitin protein ligase",
                "omim_gene": [
                    "610392"
                ],
                "alias_name": null,
                "gene_symbol": "MYCBP2",
                "hgnc_symbol": "MYCBP2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "13:77618792-77901185",
                            "ensembl_id": "ENSG00000005810"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "13:77044655-77327050",
                            "ensembl_id": "ENSG00000005810"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-04-01"
            },
            "entity_type": "gene",
            "entity_name": "MYCBP2",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": null,
            "publications": [
                "PMID: 36200388"
            ],
            "evidence": [
                "Expert Review Red",
                "Literature"
            ],
            "phenotypes": [
                "Neurodevelopmental disorder, MONDO:0700092, MYCBP2-related",
                "corpus callosum abnormalities"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:243",
                "gene_name": "adducin 1",
                "omim_gene": [
                    "102680"
                ],
                "alias_name": [
                    "alpha-adducin"
                ],
                "gene_symbol": "ADD1",
                "hgnc_symbol": "ADD1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:2845584-2931803",
                            "ensembl_id": "ENSG00000087274"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:2843857-2930076",
                            "ensembl_id": "ENSG00000087274"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-10-19"
            },
            "entity_type": "gene",
            "entity_name": "ADD1",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "PMID: 34906466"
            ],
            "evidence": [
                "Expert Review Amber",
                "Literature"
            ],
            "phenotypes": [
                "Neurodevelopmental disorder MONDO:0700092, ADD1-related",
                "Intellectual disability, corpus callosum dysgenesis, and ventriculomegaly",
                "no OMIM #"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ31228",
                    "DKFZp434F195"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:19946",
                "gene_name": "calmodulin regulated spectrin associated protein 1",
                "omim_gene": [
                    "613774"
                ],
                "alias_name": null,
                "gene_symbol": "CAMSAP1",
                "hgnc_symbol": "CAMSAP1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:138700333-138799074",
                            "ensembl_id": "ENSG00000130559"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:135808487-135907228",
                            "ensembl_id": "ENSG00000130559"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-12-09"
            },
            "entity_type": "gene",
            "entity_name": "CAMSAP1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "36283405"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Cortical dysplasia, complex, with other brain malformations 12, MIM# 620316"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "Ul",
                    "LNP1",
                    "LNP"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21610",
                "gene_name": "lunapark, ER junction formation factor",
                "omim_gene": [
                    "610236"
                ],
                "alias_name": [
                    "limb and neural patterns"
                ],
                "gene_symbol": "LNPK",
                "hgnc_symbol": "LNPK",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:176788620-176867567",
                            "ensembl_id": "ENSG00000144320"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:175923892-176002839",
                            "ensembl_id": "ENSG00000144320"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2016-07-07"
            },
            "entity_type": "gene",
            "entity_name": "LNPK",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "PMID: 35599435, 30032983",
                "https://academic.oup.com/braincomms/advance-article/doi/10.1093/braincomms/fcad222/7243438?login=true"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "VATL",
                    "Vma3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:855",
                "gene_name": "ATPase H+ transporting V0 subunit c",
                "omim_gene": [
                    "108745"
                ],
                "alias_name": null,
                "gene_symbol": "ATP6V0C",
                "hgnc_symbol": "ATP6V0C",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:2563871-2570219",
                            "ensembl_id": "ENSG00000185883"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:2513870-2520218",
                            "ensembl_id": "ENSG00000185883"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-05-10"
            },
            "entity_type": "gene",
            "entity_name": "ATP6V0C",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "PMID:36074901"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Epilepsy, early-onset, with or without developmental delay, MIM#620465",
                "neurodevelopmental disorder (MONDO:0700092), ATP6V0C-related"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "TGT"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12612",
                "gene_name": "ubiquitin specific peptidase 14",
                "omim_gene": [
                    "607274"
                ],
                "alias_name": null,
                "gene_symbol": "USP14",
                "hgnc_symbol": "USP14",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "18:158383-214629",
                            "ensembl_id": "ENSG00000101557"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "18:158383-214629",
                            "ensembl_id": "ENSG00000101557"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-02-01"
            },
            "entity_type": "gene",
            "entity_name": "USP14",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "PMID: 35066879",
                "38469793"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Syndromic disease MONDO:0002254, USP14-related",
                "Distal arthrogryposis, corpus callosum anomalies, and dysmorphic features",
                "no OMIM #"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9803",
                "gene_name": "Rac family small GTPase 3",
                "omim_gene": [
                    "602050"
                ],
                "alias_name": null,
                "gene_symbol": "RAC3",
                "hgnc_symbol": "RAC3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:79989500-79992080",
                            "ensembl_id": "ENSG00000169750"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:82031624-82034204",
                            "ensembl_id": "ENSG00000169750"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-07-11"
            },
            "entity_type": "gene",
            "entity_name": "RAC3",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "35851598"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, MIM#618577"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2908",
                "gene_name": "delta like canonical Notch ligand 1",
                "omim_gene": [
                    "606582"
                ],
                "alias_name": null,
                "gene_symbol": "DLL1",
                "hgnc_symbol": "DLL1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:170591294-170599561",
                            "ensembl_id": "ENSG00000198719"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:170282206-170306565",
                            "ensembl_id": "ENSG00000198719"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-02-11"
            },
            "entity_type": "gene",
            "entity_name": "DLL1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "31353024"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, MIM# 618709"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 205,
                "hash_id": null,
                "name": "Callosome",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.593",
                "version_created": "2026-04-02T11:47:10.809612+11:00",
                "relevant_disorders": [
                    "Abnormal corpus callosum morphology",
                    "HP:0001273"
                ],
                "stats": {
                    "number_of_genes": 459,
                    "number_of_strs": 2,
                    "number_of_regions": 3
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3791",
                "gene_name": "folate receptor 1",
                "omim_gene": [
                    "136430"
                ],
                "alias_name": [
                    "folate receptor alpha"
                ],
                "gene_symbol": "FOLR1",
                "hgnc_symbol": "FOLR1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:71900602-71907345",
                            "ensembl_id": "ENSG00000110195"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:72189558-72196323",
                            "ensembl_id": "ENSG00000110195"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-08-08"
            },
            "entity_type": "gene",
            "entity_name": "FOLR1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "19732866",
                "30420205",
                "27743887"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 206,
                "hash_id": null,
                "name": "Regression",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.611",
                "version_created": "2026-04-07T13:48:08.700916+10:00",
                "relevant_disorders": [
                    "Developmental regression",
                    "HP:0002376"
                ],
                "stats": {
                    "number_of_genes": 442,
                    "number_of_strs": 3,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "Cav2.3",
                    "BII",
                    "CACH6"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1392",
                "gene_name": "calcium voltage-gated channel subunit alpha1 E",
                "omim_gene": [
                    "601013"
                ],
                "alias_name": null,
                "gene_symbol": "CACNA1E",
                "hgnc_symbol": "CACNA1E",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:181382238-181777219",
                            "ensembl_id": "ENSG00000198216"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:181413102-181808084",
                            "ensembl_id": "ENSG00000198216"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-12-20"
            },
            "entity_type": "gene",
            "entity_name": "CACNA1E",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "Other",
            "publications": [
                "PMID: 30343943"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Epileptic encephalopathy, early infantile, 69 618285"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 206,
                "hash_id": null,
                "name": "Regression",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.611",
                "version_created": "2026-04-07T13:48:08.700916+10:00",
                "relevant_disorders": [
                    "Developmental regression",
                    "HP:0002376"
                ],
                "stats": {
                    "number_of_genes": 442,
                    "number_of_strs": 3,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "ARH3",
                    "FLJ20446"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21304",
                "gene_name": "ADP-ribosylhydrolase like 2",
                "omim_gene": [
                    "610624"
                ],
                "alias_name": [
                    "ADP-ribosylarginine hydrolase like 2"
                ],
                "gene_symbol": "ADPRHL2",
                "hgnc_symbol": "ADPRHL2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:36554476-36559533",
                            "ensembl_id": "ENSG00000116863"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:36088875-36093932",
                            "ensembl_id": "ENSG00000116863"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-06-19"
            },
            "entity_type": "gene",
            "entity_name": "ADPRHL2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "30100084",
                "30401461"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, MIM#\t618170"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "new gene name"
            ],
            "panel": {
                "id": 206,
                "hash_id": null,
                "name": "Regression",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.611",
                "version_created": "2026-04-07T13:48:08.700916+10:00",
                "relevant_disorders": [
                    "Developmental regression",
                    "HP:0002376"
                ],
                "stats": {
                    "number_of_genes": 442,
                    "number_of_strs": 3,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "EAP1",
                    "KIAA1865"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14282",
                "gene_name": "interferon regulatory factor 2 binding protein like",
                "omim_gene": [
                    "611720"
                ],
                "alias_name": [
                    "enhanced at puberty 1"
                ],
                "gene_symbol": "IRF2BPL",
                "hgnc_symbol": "IRF2BPL",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:77490888-77495034",
                            "ensembl_id": "ENSG00000119669"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "14:77024543-77028699",
                            "ensembl_id": "ENSG00000119669"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2011-02-23"
            },
            "entity_type": "gene",
            "entity_name": "IRF2BPL",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "PMID: 30057031",
                "30166628"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures\t618088"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 206,
                "hash_id": null,
                "name": "Regression",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.611",
                "version_created": "2026-04-07T13:48:08.700916+10:00",
                "relevant_disorders": [
                    "Developmental regression",
                    "HP:0002376"
                ],
                "stats": {
                    "number_of_genes": 442,
                    "number_of_strs": 3,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "KCS1",
                    "pac2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11582",
                "gene_name": "tubulin folding cofactor E",
                "omim_gene": [
                    "604934"
                ],
                "alias_name": null,
                "gene_symbol": "TBCE",
                "hgnc_symbol": "TBCE",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:235530675-235612283",
                            "ensembl_id": "ENSG00000116957"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:235367360-235448968",
                            "ensembl_id": "ENSG00000116957"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-07-31"
            },
            "entity_type": "gene",
            "entity_name": "TBCE",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "PMID: 27666369"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Encephalopathy, progressive, with amyotrophy and optic atrophy 617207"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 206,
                "hash_id": null,
                "name": "Regression",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.611",
                "version_created": "2026-04-07T13:48:08.700916+10:00",
                "relevant_disorders": [
                    "Developmental regression",
                    "HP:0002376"
                ],
                "stats": {
                    "number_of_genes": 442,
                    "number_of_strs": 3,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CDw92",
                    "CTL1",
                    "CHTL1",
                    "CD92"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:18798",
                "gene_name": "solute carrier family 44 member 1",
                "omim_gene": [
                    "606105"
                ],
                "alias_name": null,
                "gene_symbol": "SLC44A1",
                "hgnc_symbol": "SLC44A1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:108006903-108201452",
                            "ensembl_id": "ENSG00000070214"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:105244622-105439171",
                            "ensembl_id": "ENSG00000070214"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-09-06"
            },
            "entity_type": "gene",
            "entity_name": "SLC44A1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "31855247"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Childhood-onset neurodegeneration",
                "progressive ataxia",
                "tremor",
                "cognitive decline",
                "dysphagia",
                "optic atrophy",
                "dysarthria"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 206,
                "hash_id": null,
                "name": "Regression",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.611",
                "version_created": "2026-04-07T13:48:08.700916+10:00",
                "relevant_disorders": [
                    "Developmental regression",
                    "HP:0002376"
                ],
                "stats": {
                    "number_of_genes": 442,
                    "number_of_strs": 3,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "CAT1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2342",
                "gene_name": "carnitine O-acetyltransferase",
                "omim_gene": [
                    "600184"
                ],
                "alias_name": null,
                "gene_symbol": "CRAT",
                "hgnc_symbol": "CRAT",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:131857089-131873468",
                            "ensembl_id": "ENSG00000095321"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:129094810-129111189",
                            "ensembl_id": "ENSG00000095321"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-07-04"
            },
            "entity_type": "gene",
            "entity_name": "CRAT",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "29395073",
                "31448845"
            ],
            "evidence": [
                "Expert Review Amber",
                "Literature"
            ],
            "phenotypes": [
                "Neurodegeneration with brain iron accumulation 8, MIM#\t617917",
                "Leigh syndrome"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 206,
                "hash_id": null,
                "name": "Regression",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.611",
                "version_created": "2026-04-07T13:48:08.700916+10:00",
                "relevant_disorders": [
                    "Developmental regression",
                    "HP:0002376"
                ],
                "stats": {
                    "number_of_genes": 442,
                    "number_of_strs": 3,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "MGC15668",
                    "4-HPPD-L"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:28242",
                "gene_name": "4-hydroxyphenylpyruvate dioxygenase like",
                "omim_gene": null,
                "alias_name": null,
                "gene_symbol": "HPDL",
                "hgnc_symbol": "HPDL",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:45792545-45794347",
                            "ensembl_id": "ENSG00000186603"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:45326905-45328533",
                            "ensembl_id": "ENSG00000186603"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-03-14"
            },
            "entity_type": "gene",
            "entity_name": "HPDL",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "32707086"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "phenotypes": [
                "Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026",
                "Progressive neurological disorder",
                "Leigh-like syndrome"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 206,
                "hash_id": null,
                "name": "Regression",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.611",
                "version_created": "2026-04-07T13:48:08.700916+10:00",
                "relevant_disorders": [
                    "Developmental regression",
                    "HP:0002376"
                ],
                "stats": {
                    "number_of_genes": 442,
                    "number_of_strs": 3,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ11238",
                    "APHC"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:16066",
                "gene_name": "alkaline ceramidase 3",
                "omim_gene": [
                    "617036"
                ],
                "alias_name": [
                    "alkaline phytoceramidase"
                ],
                "gene_symbol": "ACER3",
                "hgnc_symbol": "ACER3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:76571911-76737841",
                            "ensembl_id": "ENSG00000078124"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:76860867-77026797",
                            "ensembl_id": "ENSG00000078124"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2008-12-19"
            },
            "entity_type": "gene",
            "entity_name": "ACER3",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "32816236",
                "26792856",
                "34281620"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "phenotypes": [
                "Leukodystrophy, progressive, early childhood-onset, MIM:617762"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 206,
                "hash_id": null,
                "name": "Regression",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.611",
                "version_created": "2026-04-07T13:48:08.700916+10:00",
                "relevant_disorders": [
                    "Developmental regression",
                    "HP:0002376"
                ],
                "stats": {
                    "number_of_genes": 442,
                    "number_of_strs": 3,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ10539",
                    "Shq1p"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25543",
                "gene_name": "SHQ1, H/ACA ribonucleoprotein assembly factor",
                "omim_gene": [
                    "613663"
                ],
                "alias_name": null,
                "gene_symbol": "SHQ1",
                "hgnc_symbol": "SHQ1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:72798428-72911065",
                            "ensembl_id": "ENSG00000144736"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:72749277-72861914",
                            "ensembl_id": "ENSG00000144736"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-02-08"
            },
            "entity_type": "gene",
            "entity_name": "SHQ1",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "34542157",
                "29178645"
            ],
            "evidence": [
                "Expert Review Amber",
                "Literature"
            ],
            "phenotypes": [
                "Neurodevelopmental disorder with dystonia and seizures, MIM# 619922"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 206,
                "hash_id": null,
                "name": "Regression",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.611",
                "version_created": "2026-04-07T13:48:08.700916+10:00",
                "relevant_disorders": [
                    "Developmental regression",
                    "HP:0002376"
                ],
                "stats": {
                    "number_of_genes": 442,
                    "number_of_strs": 3,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "IRP2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6115",
                "gene_name": "iron responsive element binding protein 2",
                "omim_gene": [
                    "147582"
                ],
                "alias_name": null,
                "gene_symbol": "IREB2",
                "hgnc_symbol": "IREB2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:78729773-78793798",
                            "ensembl_id": "ENSG00000136381"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:78437431-78501456",
                            "ensembl_id": "ENSG00000136381"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-02-20"
            },
            "entity_type": "gene",
            "entity_name": "IREB2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "30915432",
                "31243445",
                "11175792",
                "35602653"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "phenotypes": [
                "Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, MIM#618451"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 206,
                "hash_id": null,
                "name": "Regression",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.611",
                "version_created": "2026-04-07T13:48:08.700916+10:00",
                "relevant_disorders": [
                    "Developmental regression",
                    "HP:0002376"
                ],
                "stats": {
                    "number_of_genes": 442,
                    "number_of_strs": 3,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "IPOA"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11179",
                "gene_name": "superoxide dismutase 1",
                "omim_gene": [
                    "147450"
                ],
                "alias_name": null,
                "gene_symbol": "SOD1",
                "hgnc_symbol": "SOD1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "21:33031935-33041244",
                            "ensembl_id": "ENSG00000142168"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "21:31659622-31668931",
                            "ensembl_id": "ENSG00000142168"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "SOD1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "PMID: 31314961",
                "31332433",
                "34788402"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Spastic tetraplegia and axial hypotonia, progressive, MIM#618598"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 206,
                "hash_id": null,
                "name": "Regression",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.611",
                "version_created": "2026-04-07T13:48:08.700916+10:00",
                "relevant_disorders": [
                    "Developmental regression",
                    "HP:0002376"
                ],
                "stats": {
                    "number_of_genes": 442,
                    "number_of_strs": 3,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "YF13H12",
                    "HSCO"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:23287",
                "gene_name": "ETHE1, persulfide dioxygenase",
                "omim_gene": [
                    "608451"
                ],
                "alias_name": null,
                "gene_symbol": "ETHE1",
                "hgnc_symbol": "ETHE1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:44010871-44031396",
                            "ensembl_id": "ENSG00000105755"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:43506719-43527244",
                            "ensembl_id": "ENSG00000105755"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-12-15"
            },
            "entity_type": "gene",
            "entity_name": "ETHE1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "14732903",
                "28933811"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "phenotypes": [
                "Ethylmalonic encephalopathy , MIM#602473"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "treatable"
            ],
            "panel": {
                "id": 206,
                "hash_id": null,
                "name": "Regression",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.611",
                "version_created": "2026-04-07T13:48:08.700916+10:00",
                "relevant_disorders": [
                    "Developmental regression",
                    "HP:0002376"
                ],
                "stats": {
                    "number_of_genes": 442,
                    "number_of_strs": 3,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "CST6",
                    "PME"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2482",
                "gene_name": "cystatin B",
                "omim_gene": [
                    "601145"
                ],
                "alias_name": [
                    "stefin B"
                ],
                "gene_symbol": "CSTB",
                "hgnc_symbol": "CSTB",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "21:45192393-45196326",
                            "ensembl_id": "ENSG00000160213"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "21:43772511-43776445",
                            "ensembl_id": "ENSG00000160213"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1996-12-12"
            },
            "entity_type": "gene",
            "entity_name": "CSTB",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "9012407",
                "9054946"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "phenotypes": [
                "Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "5'UTR",
                "STR"
            ],
            "panel": {
                "id": 206,
                "hash_id": null,
                "name": "Regression",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.611",
                "version_created": "2026-04-07T13:48:08.700916+10:00",
                "relevant_disorders": [
                    "Developmental regression",
                    "HP:0002376"
                ],
                "stats": {
                    "number_of_genes": 442,
                    "number_of_strs": 3,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "RZF"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10057",
                "gene_name": "ring finger protein 13",
                "omim_gene": [
                    "609247"
                ],
                "alias_name": null,
                "gene_symbol": "RNF13",
                "hgnc_symbol": "RNF13",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:149530495-149679926",
                            "ensembl_id": "ENSG00000082996"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:149812708-149962139",
                            "ensembl_id": "ENSG00000082996"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-10-19"
            },
            "entity_type": "gene",
            "entity_name": "RNF13",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "Other",
            "publications": [
                "30595371"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Epileptic encephalopathy, early infantile, 73, MIM#\t618379"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 206,
                "hash_id": null,
                "name": "Regression",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.611",
                "version_created": "2026-04-07T13:48:08.700916+10:00",
                "relevant_disorders": [
                    "Developmental regression",
                    "HP:0002376"
                ],
                "stats": {
                    "number_of_genes": 442,
                    "number_of_strs": 3,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11581",
                "gene_name": "tubulin folding cofactor D",
                "omim_gene": [
                    "604649"
                ],
                "alias_name": null,
                "gene_symbol": "TBCD",
                "hgnc_symbol": "TBCD",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:80709940-80900724",
                            "ensembl_id": "ENSG00000141556"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:82752064-82945922",
                            "ensembl_id": "ENSG00000141556"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-07-31"
            },
            "entity_type": "gene",
            "entity_name": "TBCD",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "27666370",
                "27666374"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "phenotypes": [
                "Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 206,
                "hash_id": null,
                "name": "Regression",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.611",
                "version_created": "2026-04-07T13:48:08.700916+10:00",
                "relevant_disorders": [
                    "Developmental regression",
                    "HP:0002376"
                ],
                "stats": {
                    "number_of_genes": 442,
                    "number_of_strs": 3,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "MGC4276",
                    "ISA1",
                    "hIscA"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:28660",
                "gene_name": "iron-sulfur cluster assembly 1",
                "omim_gene": [
                    "611006"
                ],
                "alias_name": null,
                "gene_symbol": "ISCA1",
                "hgnc_symbol": "ISCA1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:88879461-88897676",
                            "ensembl_id": "ENSG00000135070"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:86264546-86283102",
                            "ensembl_id": "ENSG00000135070"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-01-18"
            },
            "entity_type": "gene",
            "entity_name": "ISCA1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "28356563",
                "32092383",
                "31016283",
                "30113620",
                "30105122"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Multiple mitochondrial dysfunctions syndrome 5, MIM#\t617613"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 206,
                "hash_id": null,
                "name": "Regression",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.611",
                "version_created": "2026-04-07T13:48:08.700916+10:00",
                "relevant_disorders": [
                    "Developmental regression",
                    "HP:0002376"
                ],
                "stats": {
                    "number_of_genes": 442,
                    "number_of_strs": 3,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "MDA-5",
                    "Hlcd",
                    "MDA5",
                    "IDDM19"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:18873",
                "gene_name": "interferon induced with helicase C domain 1",
                "omim_gene": [
                    "606951"
                ],
                "alias_name": [
                    "helicard",
                    "melanoma differentiation-associated gene 5"
                ],
                "gene_symbol": "IFIH1",
                "hgnc_symbol": "IFIH1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:163123589-163175213",
                            "ensembl_id": "ENSG00000115267"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:162267079-162318703",
                            "ensembl_id": "ENSG00000115267"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-06-25"
            },
            "entity_type": "gene",
            "entity_name": "IFIH1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "Other",
            "publications": [
                "24686847"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "phenotypes": [
                "Aicardi-Goutieres syndrome 7, MIM#615846"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 206,
                "hash_id": null,
                "name": "Regression",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.611",
                "version_created": "2026-04-07T13:48:08.700916+10:00",
                "relevant_disorders": [
                    "Developmental regression",
                    "HP:0002376"
                ],
                "stats": {
                    "number_of_genes": 442,
                    "number_of_strs": 3,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "GATD4"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1424",
                "gene_name": "carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase",
                "omim_gene": [
                    "114010"
                ],
                "alias_name": null,
                "gene_symbol": "CAD",
                "hgnc_symbol": "CAD",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:27440258-27466811",
                            "ensembl_id": "ENSG00000084774"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:27217390-27243943",
                            "ensembl_id": "ENSG00000084774"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "CAD",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "28007989",
                "25678555"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Epileptic encephalopathy, early infantile, 50, MIM#\t616457"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 206,
                "hash_id": null,
                "name": "Regression",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.611",
                "version_created": "2026-04-07T13:48:08.700916+10:00",
                "relevant_disorders": [
                    "Developmental regression",
                    "HP:0002376"
                ],
                "stats": {
                    "number_of_genes": 442,
                    "number_of_strs": 3,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10297",
                "gene_name": "ribose 5-phosphate isomerase A",
                "omim_gene": [
                    "180430"
                ],
                "alias_name": [
                    "ribose 5-phosphate epimerase"
                ],
                "gene_symbol": "RPIA",
                "hgnc_symbol": "RPIA",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:88991162-89050452",
                            "ensembl_id": "ENSG00000153574"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:88691644-88750935",
                            "ensembl_id": "ENSG00000153574"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-09-30"
            },
            "entity_type": "gene",
            "entity_name": "RPIA",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "14988808",
                "10589548",
                "20499043",
                "28801340",
                "30088433"
            ],
            "evidence": [
                "Expert Review Amber",
                "Expert Review"
            ],
            "phenotypes": [
                "RPIA (ribose 5-phosphate isomerase A)"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 206,
                "hash_id": null,
                "name": "Regression",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.611",
                "version_created": "2026-04-07T13:48:08.700916+10:00",
                "relevant_disorders": [
                    "Developmental regression",
                    "HP:0002376"
                ],
                "stats": {
                    "number_of_genes": 442,
                    "number_of_strs": 3,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "PKR",
                    "EIF2AK1",
                    "PPP1R83"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9437",
                "gene_name": "eukaryotic translation initiation factor 2 alpha kinase 2",
                "omim_gene": [
                    "176871"
                ],
                "alias_name": [
                    "protein phosphatase 1, regulatory subunit 83"
                ],
                "gene_symbol": "EIF2AK2",
                "hgnc_symbol": "EIF2AK2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:37326353-37384208",
                            "ensembl_id": "ENSG00000055332"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:37099210-37157065",
                            "ensembl_id": "ENSG00000055332"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-01-19"
            },
            "entity_type": "gene",
            "entity_name": "EIF2AK2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "32197074"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Intellectual disability",
                "white matter abnormalities",
                "ataxia",
                "regression with febrile illness"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 206,
                "hash_id": null,
                "name": "Regression",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.611",
                "version_created": "2026-04-07T13:48:08.700916+10:00",
                "relevant_disorders": [
                    "Developmental regression",
                    "HP:0002376"
                ],
                "stats": {
                    "number_of_genes": 442,
                    "number_of_strs": 3,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "KIAA1035",
                    "Nna1",
                    "CCP1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17258",
                "gene_name": "ATP/GTP binding protein 1",
                "omim_gene": [
                    "606830"
                ],
                "alias_name": [
                    "cytosolic carboxypeptidase 1",
                    "tubulinyl-Tyr carboxypeptidase",
                    "carboxypeptidase-tubulin",
                    "tyrosine carboxypeptidase",
                    "soluble carboxypeptidase"
                ],
                "gene_symbol": "AGTPBP1",
                "hgnc_symbol": "AGTPBP1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:88161455-88356944",
                            "ensembl_id": "ENSG00000135049"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:85546539-85742029",
                            "ensembl_id": "ENSG00000135049"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-03-27"
            },
            "entity_type": "gene",
            "entity_name": "AGTPBP1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "30420557, 28600779, 30976113, 38153683, 28325758"
            ],
            "evidence": [
                "Expert Review Green",
                "NHS GMS"
            ],
            "phenotypes": [
                "Neurodegeneration, childhood-onset, with cerebellar atrophy, MONDO:0032650"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 206,
                "hash_id": null,
                "name": "Regression",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.611",
                "version_created": "2026-04-07T13:48:08.700916+10:00",
                "relevant_disorders": [
                    "Developmental regression",
                    "HP:0002376"
                ],
                "stats": {
                    "number_of_genes": 442,
                    "number_of_strs": 3,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "p62",
                    "DKFZp547L134",
                    "IBSN",
                    "SNDI",
                    "MGC841",
                    "FLJ20822",
                    "FLJ43869"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8066",
                "gene_name": "nucleoporin 62",
                "omim_gene": [
                    "605815"
                ],
                "alias_name": [
                    "nuclear pore glycoprotein p62"
                ],
                "gene_symbol": "NUP62",
                "hgnc_symbol": "NUP62",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:50410082-50433020",
                            "ensembl_id": "ENSG00000213024"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:49906825-49929763",
                            "ensembl_id": "ENSG00000213024"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-01-06"
            },
            "entity_type": "gene",
            "entity_name": "NUP62",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "16786527"
            ],
            "evidence": [
                "Expert Review Amber",
                "Expert Review"
            ],
            "phenotypes": [
                "Striatonigral degeneration, infantile, MIM#271930"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "founder"
            ],
            "panel": {
                "id": 206,
                "hash_id": null,
                "name": "Regression",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.611",
                "version_created": "2026-04-07T13:48:08.700916+10:00",
                "relevant_disorders": [
                    "Developmental regression",
                    "HP:0002376"
                ],
                "stats": {
                    "number_of_genes": 442,
                    "number_of_strs": 3,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "CAIN",
                    "CAN",
                    "D9S46E",
                    "N214"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8064",
                "gene_name": "nucleoporin 214",
                "omim_gene": [
                    "114350"
                ],
                "alias_name": [
                    "nuclear pore complex protein Nup214",
                    "CAN protein, putative oncogene"
                ],
                "gene_symbol": "NUP214",
                "hgnc_symbol": "NUP214",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:134000948-134110057",
                            "ensembl_id": "ENSG00000126883"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:131125561-131234670",
                            "ensembl_id": "ENSG00000126883"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-05-05"
            },
            "entity_type": "gene",
            "entity_name": "NUP214",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "31178128",
                "30758658"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Encephalopathy, acute, infection-induced, susceptibility to, 9, MIM# 618426",
                "epileptic encephalopathy",
                "developmental regression",
                "microcephaly"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 206,
                "hash_id": null,
                "name": "Regression",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.611",
                "version_created": "2026-04-07T13:48:08.700916+10:00",
                "relevant_disorders": [
                    "Developmental regression",
                    "HP:0002376"
                ],
                "stats": {
                    "number_of_genes": 442,
                    "number_of_strs": 3,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ21439"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11226",
                "gene_name": "SPG11, spatacsin vesicle trafficking associated",
                "omim_gene": [
                    "610844"
                ],
                "alias_name": [
                    "spatacsin"
                ],
                "gene_symbol": "SPG11",
                "hgnc_symbol": "SPG11",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:44854894-44955876",
                            "ensembl_id": "ENSG00000104133"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:44562696-44663678",
                            "ensembl_id": "ENSG00000104133"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-10-08"
            },
            "entity_type": "gene",
            "entity_name": "SPG11",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "21381113",
                "22554690",
                "19224311",
                "18067136",
                "27820618"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "phenotypes": [
                "Spastic paraplegia 11, autosomal recessive, MIM#604360",
                "Charcot-Marie-Tooth disease, axonal, type 2X, MIM#616668",
                "Amyotrophic lateral sclerosis 5, juvenile, MIM#602099"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 206,
                "hash_id": null,
                "name": "Regression",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.611",
                "version_created": "2026-04-07T13:48:08.700916+10:00",
                "relevant_disorders": [
                    "Developmental regression",
                    "HP:0002376"
                ],
                "stats": {
                    "number_of_genes": 442,
                    "number_of_strs": 3,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "SMVT"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11041",
                "gene_name": "solute carrier family 5 member 6",
                "omim_gene": [
                    "604024"
                ],
                "alias_name": null,
                "gene_symbol": "SLC5A6",
                "hgnc_symbol": "SLC5A6",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:27422455-27435826",
                            "ensembl_id": "ENSG00000138074"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:27199587-27212958",
                            "ensembl_id": "ENSG00000138074"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-01-19"
            },
            "entity_type": "gene",
            "entity_name": "SLC5A6",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "31754459",
                "27904971"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Developmental delay",
                "epilepsy",
                "neurodegeneration",
                "Neurodegeneration, infantile-onset, biotin-responsive, MIM#\t618973"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 206,
                "hash_id": null,
                "name": "Regression",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.611",
                "version_created": "2026-04-07T13:48:08.700916+10:00",
                "relevant_disorders": [
                    "Developmental regression",
                    "HP:0002376"
                ],
                "stats": {
                    "number_of_genes": 442,
                    "number_of_strs": 3,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "UNQ3030",
                    "ELLP3030",
                    "MGC50789",
                    "GARPL1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:24613",
                "gene_name": "negative regulator of reactive oxygen species",
                "omim_gene": [
                    "615322"
                ],
                "alias_name": null,
                "gene_symbol": "NRROS",
                "hgnc_symbol": "NRROS",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:196366557-196388875",
                            "ensembl_id": "ENSG00000174004"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:196639686-196662004",
                            "ensembl_id": "ENSG00000174004"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2013-07-02"
            },
            "entity_type": "gene",
            "entity_name": "NRROS",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": null,
            "publications": [
                "32100099"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "neurodegeneration",
                "intracranial calcification",
                "epilepsy"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 206,
                "hash_id": null,
                "name": "Regression",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.611",
                "version_created": "2026-04-07T13:48:08.700916+10:00",
                "relevant_disorders": [
                    "Developmental regression",
                    "HP:0002376"
                ],
                "stats": {
                    "number_of_genes": 442,
                    "number_of_strs": 3,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "cblB",
                    "CFAP23"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:19331",
                "gene_name": "methylmalonic aciduria (cobalamin deficiency) cblB type",
                "omim_gene": [
                    "607568"
                ],
                "alias_name": [
                    "ATP:cob(I)alamin adenosyltransferase",
                    "cilia and flagella associated protein 23"
                ],
                "gene_symbol": "MMAB",
                "hgnc_symbol": "MMAB",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:109991542-110011679",
                            "ensembl_id": "ENSG00000139428"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:109553737-109573874",
                            "ensembl_id": "ENSG00000139428"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-02-11"
            },
            "entity_type": "gene",
            "entity_name": "MMAB",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Victorian Clinical Genetics Services",
                "Expert Review Green"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "Unknown",
            "tags": [
                "treatable"
            ],
            "panel": {
                "id": 206,
                "hash_id": null,
                "name": "Regression",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.611",
                "version_created": "2026-04-07T13:48:08.700916+10:00",
                "relevant_disorders": [
                    "Developmental regression",
                    "HP:0002376"
                ],
                "stats": {
                    "number_of_genes": 442,
                    "number_of_strs": 3,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13666",
                "gene_name": "aladin WD repeat nucleoporin",
                "omim_gene": [
                    "605378"
                ],
                "alias_name": [
                    "aladin",
                    "Allgrove, triple-A",
                    "adracalin"
                ],
                "gene_symbol": "AAAS",
                "hgnc_symbol": "AAAS",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:53701240-53718648",
                            "ensembl_id": "ENSG00000094914"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:53307456-53324864",
                            "ensembl_id": "ENSG00000094914"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-11-08"
            },
            "entity_type": "gene",
            "entity_name": "AAAS",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Expert list",
                "Victorian Clinical Genetics Services"
            ],
            "phenotypes": [
                "Achalasia-addisonianism-alacrimia syndrome, MIM#231550"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 206,
                "hash_id": null,
                "name": "Regression",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.611",
                "version_created": "2026-04-07T13:48:08.700916+10:00",
                "relevant_disorders": [
                    "Developmental regression",
                    "HP:0002376"
                ],
                "stats": {
                    "number_of_genes": 442,
                    "number_of_strs": 3,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "KIAA1270",
                    "bA444E17.1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21022",
                "gene_name": "alanyl-tRNA synthetase 2, mitochondrial",
                "omim_gene": [
                    "612035"
                ],
                "alias_name": [
                    "alanine tRNA ligase 2, mitochondrial"
                ],
                "gene_symbol": "AARS2",
                "hgnc_symbol": "AARS2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:44267391-44281063",
                            "ensembl_id": "ENSG00000124608"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:44299654-44313326",
                            "ensembl_id": "ENSG00000124608"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-02-23"
            },
            "entity_type": "gene",
            "entity_name": "AARS2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "30706699",
                "27839525",
                "21549344",
                "25058219",
                "24808023"
            ],
            "evidence": [
                "Expert Review Green",
                "Victorian Clinical Genetics Services"
            ],
            "phenotypes": [
                "Leukoencephalopathy, progressive, with ovarian failure MIM#615889"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 206,
                "hash_id": null,
                "name": "Regression",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.611",
                "version_created": "2026-04-07T13:48:08.700916+10:00",
                "relevant_disorders": [
                    "Developmental regression",
                    "HP:0002376"
                ],
                "stats": {
                    "number_of_genes": 442,
                    "number_of_strs": 3,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "EST140535",
                    "Atm1p",
                    "ASAT"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:48",
                "gene_name": "ATP binding cassette subfamily B member 7",
                "omim_gene": [
                    "300135"
                ],
                "alias_name": null,
                "gene_symbol": "ABCB7",
                "hgnc_symbol": "ABCB7",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:74273115-74376567",
                            "ensembl_id": "ENSG00000131269"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:75053172-75156732",
                            "ensembl_id": "ENSG00000131269"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-09-12"
            },
            "entity_type": "gene",
            "entity_name": "ABCB7",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "10196363",
                "11050011",
                "34354969"
            ],
            "evidence": [
                "Expert Review Red",
                "Victorian Clinical Genetics Services"
            ],
            "phenotypes": [
                "Anaemia, sideroblastic, with ataxia, MIM# 301310"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "tags": [],
            "panel": {
                "id": 206,
                "hash_id": null,
                "name": "Regression",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.611",
                "version_created": "2026-04-07T13:48:08.700916+10:00",
                "relevant_disorders": [
                    "Developmental regression",
                    "HP:0002376"
                ],
                "stats": {
                    "number_of_genes": 442,
                    "number_of_strs": 3,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "AMN",
                    "ALDP",
                    "adrenoleukodystrophy"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:61",
                "gene_name": "ATP binding cassette subfamily D member 1",
                "omim_gene": [
                    "300371"
                ],
                "alias_name": null,
                "gene_symbol": "ABCD1",
                "hgnc_symbol": "ABCD1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:152990323-153010216",
                            "ensembl_id": "ENSG00000101986"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:153724868-153744762",
                            "ensembl_id": "ENSG00000101986"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "ABCD1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "15811009",
                "8651290",
                "7825602",
                "21700483"
            ],
            "evidence": [
                "Expert Review Green",
                "Victorian Clinical Genetics Services"
            ],
            "phenotypes": [
                "adrenoleukodystrophy (MONDO:0018544)"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "tags": [],
            "panel": {
                "id": 206,
                "hash_id": null,
                "name": "Regression",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.611",
                "version_created": "2026-04-07T13:48:08.700916+10:00",
                "relevant_disorders": [
                    "Developmental regression",
                    "HP:0002376"
                ],
                "stats": {
                    "number_of_genes": 442,
                    "number_of_strs": 3,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "DKFZP434P106",
                    "dJ965G21.2",
                    "BEM46L2",
                    "ABHD12A"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:15868",
                "gene_name": "abhydrolase domain containing 12",
                "omim_gene": [
                    "613599"
                ],
                "alias_name": null,
                "gene_symbol": "ABHD12",
                "hgnc_symbol": "ABHD12",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "20:25275379-25371619",
                            "ensembl_id": "ENSG00000100997"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "20:25294743-25390983",
                            "ensembl_id": "ENSG00000100997"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-03-10"
            },
            "entity_type": "gene",
            "entity_name": "ABHD12",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Victorian Clinical Genetics Services",
                "Expert Review Green"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "Unknown",
            "tags": [],
            "panel": {
                "id": 206,
                "hash_id": null,
                "name": "Regression",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.611",
                "version_created": "2026-04-07T13:48:08.700916+10:00",
                "relevant_disorders": [
                    "Developmental regression",
                    "HP:0002376"
                ],
                "stats": {
                    "number_of_genes": 442,
                    "number_of_strs": 3,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "ACONM"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:118",
                "gene_name": "aconitase 2",
                "omim_gene": [
                    "100850"
                ],
                "alias_name": [
                    "aconitate hydratase, mitochondrial",
                    "mitochondrial aconitase"
                ],
                "gene_symbol": "ACO2",
                "hgnc_symbol": "ACO2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "22:41865129-41924993",
                            "ensembl_id": "ENSG00000100412"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "22:41469125-41528989",
                            "ensembl_id": "ENSG00000100412"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "ACO2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "22405087",
                "25351951",
                "30689204",
                "32519519",
                "25351951"
            ],
            "evidence": [
                "Expert Review Green",
                "Victorian Clinical Genetics Services"
            ],
            "phenotypes": [
                "Infantile cerebellar-retinal degeneration, MIM#614559"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 206,
                "hash_id": null,
                "name": "Regression",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.611",
                "version_created": "2026-04-07T13:48:08.700916+10:00",
                "relevant_disorders": [
                    "Developmental regression",
                    "HP:0002376"
                ],
                "stats": {
                    "number_of_genes": 442,
                    "number_of_strs": 3,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "ADAR1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:225",
                "gene_name": "adenosine deaminase, RNA specific",
                "omim_gene": [
                    "146920"
                ],
                "alias_name": null,
                "gene_symbol": "ADAR",
                "hgnc_symbol": "ADAR",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:154554538-154600475",
                            "ensembl_id": "ENSG00000160710"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:154582062-154627999",
                            "ensembl_id": "ENSG00000160710"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-12-12"
            },
            "entity_type": "gene",
            "entity_name": "ADAR",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Victorian Clinical Genetics Services",
                "Expert Review Green"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "Unknown",
            "tags": [],
            "panel": {
                "id": 206,
                "hash_id": null,
                "name": "Regression",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.611",
                "version_created": "2026-04-07T13:48:08.700916+10:00",
                "relevant_disorders": [
                    "Developmental regression",
                    "HP:0002376"
                ],
                "stats": {
                    "number_of_genes": 442,
                    "number_of_strs": 3,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "SPAX5"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:315",
                "gene_name": "AFG3 like matrix AAA peptidase subunit 2",
                "omim_gene": [
                    "604581"
                ],
                "alias_name": null,
                "gene_symbol": "AFG3L2",
                "hgnc_symbol": "AFG3L2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "18:12328943-12377313",
                            "ensembl_id": "ENSG00000141385"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "18:12328944-12377314",
                            "ensembl_id": "ENSG00000141385"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-07-13"
            },
            "entity_type": "gene",
            "entity_name": "AFG3L2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Victorian Clinical Genetics Services",
                "Expert Review Green"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "Unknown",
            "tags": [],
            "panel": {
                "id": 206,
                "hash_id": null,
                "name": "Regression",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.611",
                "version_created": "2026-04-07T13:48:08.700916+10:00",
                "relevant_disorders": [
                    "Developmental regression",
                    "HP:0002376"
                ],
                "stats": {
                    "number_of_genes": 442,
                    "number_of_strs": 3,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ20069",
                    "ORF1",
                    "JBTS3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21575",
                "gene_name": "Abelson helper integration site 1",
                "omim_gene": [
                    "608894"
                ],
                "alias_name": [
                    "Jouberin"
                ],
                "gene_symbol": "AHI1",
                "hgnc_symbol": "AHI1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:135604670-135818914",
                            "ensembl_id": "ENSG00000135541"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:135283532-135497776",
                            "ensembl_id": "ENSG00000135541"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-08-22"
            },
            "entity_type": "gene",
            "entity_name": "AHI1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Victorian Clinical Genetics Services",
                "Expert Review Green"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "Unknown",
            "tags": [],
            "panel": {
                "id": 206,
                "hash_id": null,
                "name": "Regression",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.611",
                "version_created": "2026-04-07T13:48:08.700916+10:00",
                "relevant_disorders": [
                    "Developmental regression",
                    "HP:0002376"
                ],
                "stats": {
                    "number_of_genes": 442,
                    "number_of_strs": 3,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "SSADH",
                    "SSDH"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:408",
                "gene_name": "aldehyde dehydrogenase 5 family member A1",
                "omim_gene": [
                    "610045"
                ],
                "alias_name": [
                    "succinate-semialdehyde dehydrogenase"
                ],
                "gene_symbol": "ALDH5A1",
                "hgnc_symbol": "ALDH5A1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:24495080-24537435",
                            "ensembl_id": "ENSG00000112294"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:24494852-24537207",
                            "ensembl_id": "ENSG00000112294"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-06-11"
            },
            "entity_type": "gene",
            "entity_name": "ALDH5A1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Victorian Clinical Genetics Services",
                "Expert Review Green"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "Unknown",
            "tags": [],
            "panel": {
                "id": 206,
                "hash_id": null,
                "name": "Regression",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.611",
                "version_created": "2026-04-07T13:48:08.700916+10:00",
                "relevant_disorders": [
                    "Developmental regression",
                    "HP:0002376"
                ],
                "stats": {
                    "number_of_genes": 442,
                    "number_of_strs": 3,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:23157",
                "gene_name": "ALG6, alpha-1,3-glucosyltransferase",
                "omim_gene": [
                    "604566"
                ],
                "alias_name": [
                    "dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"
                ],
                "gene_symbol": "ALG6",
                "hgnc_symbol": "ALG6",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:63833261-63904233",
                            "ensembl_id": "ENSG00000088035"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:63367590-63438562",
                            "ensembl_id": "ENSG00000088035"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-10-15"
            },
            "entity_type": "gene",
            "entity_name": "ALG6",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "10914684",
                "27498540"
            ],
            "evidence": [
                "Expert Review Red",
                "Victorian Clinical Genetics Services"
            ],
            "phenotypes": [
                "Congenital disorder of glycosylation, type Ic (MIM#603147)"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 206,
                "hash_id": null,
                "name": "Regression",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "",
                "description": "This panel was developed and is maintained by VCGS.",
                "status": "public",
                "version": "0.611",
                "version_created": "2026-04-07T13:48:08.700916+10:00",
                "relevant_disorders": [
                    "Developmental regression",
                    "HP:0002376"
                ],
                "stats": {
                    "number_of_genes": 442,
                    "number_of_strs": 3,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        }
    ]
}