Gene Search List

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            "gene_data": {
                "alias": [
                    "NR3B3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3474",
                "gene_name": "estrogen related receptor gamma",
                "omim_gene": [
                    "602969"
                ],
                "alias_name": null,
                "gene_symbol": "ESRRG",
                "hgnc_symbol": "ESRRG",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:216676588-217311097",
                            "ensembl_id": "ENSG00000196482"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:216503246-217137755",
                            "ensembl_id": "ENSG00000196482"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-02-17"
            },
            "entity_type": "gene",
            "entity_name": "ESRRG",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "41265451"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Movement disorder, MONDO:0005395, ESRRG-related"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 137,
                "hash_id": null,
                "name": "Mendeliome",
                "disease_group": "",
                "disease_sub_group": "",
                "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.",
                "status": "public",
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                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 6014,
                    "number_of_strs": 43,
                    "number_of_regions": 7
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Royal Melbourne Hospital",
                        "slug": "royal-melbourne-hospital",
                        "description": "Royal Melbourne Hospital"
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
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                "child_panel_ids": []
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            "transcript": []
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        {
            "gene_data": {
                "alias": [
                    "LSR68"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:19853",
                "gene_name": "ELM2 and Myb/SANT domain containing 1",
                "omim_gene": null,
                "alias_name": null,
                "gene_symbol": "ELMSAN1",
                "hgnc_symbol": "ELMSAN1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:74181825-74256988",
                            "ensembl_id": "ENSG00000156030"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "14:73715122-73790285",
                            "ensembl_id": "ENSG00000156030"
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                    }
                },
                "hgnc_date_symbol_changed": "2012-09-25"
            },
            "entity_type": "gene",
            "entity_name": "ELMSAN1",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [],
            "evidence": [
                "Expert Review Amber",
                "Literature"
            ],
            "phenotypes": [
                "Neurodevelopmental disorder, MONDO:0700092, ELMSAN1-related"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [
                "new gene name"
            ],
            "panel": {
                "id": 137,
                "hash_id": null,
                "name": "Mendeliome",
                "disease_group": "",
                "disease_sub_group": "",
                "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.",
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                    "number_of_regions": 7
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                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Royal Melbourne Hospital",
                        "slug": "royal-melbourne-hospital",
                        "description": "Royal Melbourne Hospital"
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
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            "transcript": []
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        {
            "gene_data": {
                "alias": [
                    "FLJ90037"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:15830",
                "gene_name": "odd-skipped related transciption factor 2",
                "omim_gene": [
                    "611297"
                ],
                "alias_name": null,
                "gene_symbol": "OSR2",
                "hgnc_symbol": "OSR2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:99956631-99964332",
                            "ensembl_id": "ENSG00000164920"
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                            "ensembl_id": "ENSG00000164920"
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                },
                "hgnc_date_symbol_changed": "2004-11-22"
            },
            "entity_type": "gene",
            "entity_name": "OSR2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "41424369",
                "21262216"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Skeletal dysplasia, MONDO:0018230, OSR2-related"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 137,
                "hash_id": null,
                "name": "Mendeliome",
                "disease_group": "",
                "disease_sub_group": "",
                "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.",
                "status": "public",
                "version": "1.4744",
                "version_created": "2026-04-15T16:21:38.926946+10:00",
                "relevant_disorders": [],
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                    "number_of_regions": 7
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Royal Melbourne Hospital",
                        "slug": "royal-melbourne-hospital",
                        "description": "Royal Melbourne Hospital"
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "MRPS29",
                    "DAP-3",
                    "MRP-S29",
                    "bMRP-10",
                    "MGC126058",
                    "MGC126059",
                    "DKFZp686G12159"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2673",
                "gene_name": "death associated protein 3",
                "omim_gene": [
                    "602074"
                ],
                "alias_name": [
                    "mitochondrial 28S ribosomal protein S29"
                ],
                "gene_symbol": "DAP3",
                "hgnc_symbol": "DAP3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:155657751-155708801",
                            "ensembl_id": "ENSG00000132676"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:155687960-155739010",
                            "ensembl_id": "ENSG00000132676"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-05-14"
            },
            "entity_type": "gene",
            "entity_name": "DAP3",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "39701103"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Perrault syndrome 7, MIM# 621101"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 137,
                "hash_id": null,
                "name": "Mendeliome",
                "disease_group": "",
                "disease_sub_group": "",
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                "status": "public",
                "version": "1.4744",
                "version_created": "2026-04-15T16:21:38.926946+10:00",
                "relevant_disorders": [],
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                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Royal Melbourne Hospital",
                        "slug": "royal-melbourne-hospital",
                        "description": "Royal Melbourne Hospital"
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "TFB2",
                    "TFIIH",
                    "P52"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4658",
                "gene_name": "general transcription factor IIH subunit 4",
                "omim_gene": [
                    "601760"
                ],
                "alias_name": null,
                "gene_symbol": "GTF2H4",
                "hgnc_symbol": "GTF2H4",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:30875961-30881883",
                            "ensembl_id": "ENSG00000213780"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:30908184-30914106",
                            "ensembl_id": "ENSG00000213780"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-08-19"
            },
            "entity_type": "gene",
            "entity_name": "GTF2H4",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "40924495",
                "40924475"
            ],
            "evidence": [
                "Expert Review Red",
                "Literature",
                "Literature"
            ],
            "phenotypes": [
                "Xeroderma pigmentosum, complementation group J, MIM# 621435"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
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                "id": 137,
                "hash_id": null,
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                "status": "public",
                "version": "1.4744",
                "version_created": "2026-04-15T16:21:38.926946+10:00",
                "relevant_disorders": [],
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                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
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                    {
                        "name": "Royal Melbourne Hospital",
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                        "description": "Royal Melbourne Hospital"
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                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
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        {
            "gene_data": {
                "alias": [
                    "SELB",
                    "EFSEC",
                    "eEFSec"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:24614",
                "gene_name": "eukaryotic elongation factor, selenocysteine-tRNA specific",
                "omim_gene": [
                    "607695"
                ],
                "alias_name": [
                    "elongation factor for selenoprotein translation",
                    "selenocysteine (Sec)-specific eukaryotic elongation factor"
                ],
                "gene_symbol": "EEFSEC",
                "hgnc_symbol": "EEFSEC",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:127872297-128127485",
                            "ensembl_id": "ENSG00000132394"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "3:128153454-128408646",
                            "ensembl_id": "ENSG00000132394"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-04-08"
            },
            "entity_type": "gene",
            "entity_name": "EEFSEC",
            "confidence_level": "3",
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            "mode_of_pathogenicity": null,
            "publications": [
                "39753114"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Neurodevelopmental disorder with progressive spasticity and brain abnormalities, MIM#621102"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
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                "id": 137,
                "hash_id": null,
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                "status": "public",
                "version": "1.4744",
                "version_created": "2026-04-15T16:21:38.926946+10:00",
                "relevant_disorders": [],
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                    "number_of_regions": 7
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Royal Melbourne Hospital",
                        "slug": "royal-melbourne-hospital",
                        "description": "Royal Melbourne Hospital"
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                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
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            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "KIAA0938",
                    "POMFIL1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:15998",
                "gene_name": "neuron navigator 3",
                "omim_gene": [
                    "611629"
                ],
                "alias_name": [
                    "pore membrane and/or filament interacting like protein 1",
                    "steerin 3"
                ],
                "gene_symbol": "NAV3",
                "hgnc_symbol": "NAV3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:78224685-78606790",
                            "ensembl_id": "ENSG00000067798"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "12:77324641-78213008",
                            "ensembl_id": "ENSG00000067798"
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                },
                "hgnc_date_symbol_changed": "2001-06-29"
            },
            "entity_type": "gene",
            "entity_name": "NAV3",
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                "39708122",
                "38977784"
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                "Expert Review Green",
                "Literature"
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            "phenotypes": [
                "Neurodevelopmental disorder with poor or absent speech, dysmorphic facies, and behavioral abnormalities, MIM# 621182"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
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                "hash_id": null,
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                "status": "public",
                "version": "1.4744",
                "version_created": "2026-04-15T16:21:38.926946+10:00",
                "relevant_disorders": [],
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                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
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                    {
                        "name": "Royal Melbourne Hospital",
                        "slug": "royal-melbourne-hospital",
                        "description": "Royal Melbourne Hospital"
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                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
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                "alias": [
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                "omim_gene": null,
                "alias_name": null,
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                    {
                        "name": "Royal Melbourne Hospital",
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                        "name": "Royal Melbourne Hospital",
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:20157",
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                "hgnc_date_symbol_changed": "2002-12-18"
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                "status": "public",
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                    {
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        {
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                    "FLJ10357"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25516",
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                "hgnc_date_symbol_changed": "2010-09-01"
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            "entity_type": "gene",
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                "types": [
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                        "name": "Victorian Clinical Genetics Services",
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                    {
                        "name": "Royal Melbourne Hospital",
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                "child_panel_ids": []
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        {
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                    "KIAA0342"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29011",
                "gene_name": "tetratricopeptide repeat and ankyrin repeat containing 1",
                "omim_gene": null,
                "alias_name": [
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                    "KIAA0342"
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                "gene_symbol": "TRANK1",
                "hgnc_symbol": "TRANK1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                    }
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                "hgnc_date_symbol_changed": "2009-09-25"
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            "entity_type": "gene",
            "entity_name": "TRANK1",
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                "relevant_disorders": [],
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                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
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                    {
                        "name": "Royal Melbourne Hospital",
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        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:24867",
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                "gene_symbol": "GLTP",
                "hgnc_symbol": "GLTP",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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            "entity_type": "gene",
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                ],
                "child_panel_ids": []
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            "transcript": []
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        {
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                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2016",
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                "omim_gene": [
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                "gene_symbol": "CLCA2",
                "hgnc_symbol": "CLCA2",
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                "ensembl_genes": {
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        {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4821",
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                "hgnc_symbol": "HAT1",
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                "ensembl_genes": {
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            "entity_type": "gene",
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                "types": [
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                    {
                        "name": "Royal Melbourne Hospital",
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                "hgnc_symbol": "GNA13",
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                },
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            "entity_type": "gene",
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                "hgnc_date_symbol_changed": "2003-02-14"
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            "entity_type": "gene",
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        {
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        {
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        {
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                "hgnc_id": "HGNC:25793",
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            "phenotypes": [
                "Hypogonadotropic hypogonadism, MONDO:0018555"
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                    {
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                "hgnc_symbol": "MEG3",
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        {
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                "hgnc_date_symbol_changed": "2007-06-20"
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                "status": "public",
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        {
            "gene_data": {
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                "disease_sub_group": "",
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                "status": "public",
                "version": "1.4744",
                "version_created": "2026-04-15T16:21:38.926946+10:00",
                "relevant_disorders": [],
                "stats": {
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                    "number_of_strs": 43,
                    "number_of_regions": 7
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Royal Melbourne Hospital",
                        "slug": "royal-melbourne-hospital",
                        "description": "Royal Melbourne Hospital"
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
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                    "UBCEP80",
                    "Uba80",
                    "S27A"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10417",
                "gene_name": "ribosomal protein S27a",
                "omim_gene": [
                    "191343"
                ],
                "alias_name": [
                    "ubiquitin carboxyl extension protein 80"
                ],
                "gene_symbol": "RPS27A",
                "hgnc_symbol": "RPS27A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "2:55459039-55462989",
                            "ensembl_id": "ENSG00000143947"
                        }
                    },
                    "GRch38": {
                        "90": {
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                            "ensembl_id": "ENSG00000143947"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-07-29"
            },
            "entity_type": "gene",
            "entity_name": "RPS27A",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "28297620",
                "24680683",
                "26942564"
            ],
            "evidence": [
                "Curated sources",
                "Expert Review Red",
                "Expert Review Red",
                "Curated sources"
            ],
            "phenotypes": [
                "Osteosarcoma, soft tissue sarcomas",
                "Diamond Blackfan Anemia",
                "MDS, AML",
                "Class: BM failure syndrome (typ AR)"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
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                "hash_id": null,
                "name": "Mendeliome",
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                "status": "public",
                "version": "1.4744",
                "version_created": "2026-04-15T16:21:38.926946+10:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 6014,
                    "number_of_strs": 43,
                    "number_of_regions": 7
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Royal Melbourne Hospital",
                        "slug": "royal-melbourne-hospital",
                        "description": "Royal Melbourne Hospital"
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "DKFZp566B023",
                    "L36"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13631",
                "gene_name": "ribosomal protein L36",
                "omim_gene": null,
                "alias_name": null,
                "gene_symbol": "RPL36",
                "hgnc_symbol": "RPL36",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:5674958-5691887",
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                    },
                    "GRch38": {
                        "90": {
                            "location": "19:5674947-5691876",
                            "ensembl_id": "ENSG00000130255"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-09-27"
            },
            "entity_type": "gene",
            "entity_name": "RPL36",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
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                "28297620",
                "19061985",
                "39923319"
            ],
            "evidence": [
                "Curated sources",
                "Expert Review Amber",
                "Expert Review Amber",
                "Curated sources"
            ],
            "phenotypes": [
                "Osteosarcoma, soft tissue sarcomas",
                "Diamond Blackfan Anemia",
                "MDS, AML",
                "Class: BM failure syndrome (typ AR)",
                "Diamond-Blackfan anemia MONDO:0015253"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 137,
                "hash_id": null,
                "name": "Mendeliome",
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                "disease_sub_group": "",
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                "status": "public",
                "version": "1.4744",
                "version_created": "2026-04-15T16:21:38.926946+10:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 6014,
                    "number_of_strs": 43,
                    "number_of_regions": 7
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Royal Melbourne Hospital",
                        "slug": "royal-melbourne-hospital",
                        "description": "Royal Melbourne Hospital"
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CK1",
                    "CK1a",
                    "CK1alpha",
                    "CKIa",
                    "CKIalpha"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2451",
                "gene_name": "casein kinase 1 alpha 1",
                "omim_gene": [
                    "600505"
                ],
                "alias_name": [
                    "clock regulator kinase"
                ],
                "gene_symbol": "CSNK1A1",
                "hgnc_symbol": "CSNK1A1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:148871760-148931007",
                            "ensembl_id": "ENSG00000113712"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:149492197-149551552",
                            "ensembl_id": "ENSG00000113712"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-12-13"
            },
            "entity_type": "gene",
            "entity_name": "CSNK1A1",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "40156289"
            ],
            "evidence": [
                "Expert Review Amber",
                "Literature"
            ],
            "phenotypes": [
                "Infantile spasms, MONDO:0018097, CSNK1A1-related"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 137,
                "hash_id": null,
                "name": "Mendeliome",
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                "status": "public",
                "version": "1.4744",
                "version_created": "2026-04-15T16:21:38.926946+10:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 6014,
                    "number_of_strs": 43,
                    "number_of_regions": 7
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Royal Melbourne Hospital",
                        "slug": "royal-melbourne-hospital",
                        "description": "Royal Melbourne Hospital"
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
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                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14015",
                "gene_name": "CUGBP Elav-like family member 4",
                "omim_gene": [
                    "612679"
                ],
                "alias_name": null,
                "gene_symbol": "CELF4",
                "hgnc_symbol": "CELF4",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "18:34823010-35146000",
                            "ensembl_id": "ENSG00000101489"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "18:37243047-37566037",
                            "ensembl_id": "ENSG00000101489"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2010-02-19"
            },
            "entity_type": "gene",
            "entity_name": "CELF4",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "40108438"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Neurodevelopmental disorder, MONDO:0700092, CELF4-related"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
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                "hash_id": null,
                "name": "Mendeliome",
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                "status": "public",
                "version": "1.4744",
                "version_created": "2026-04-15T16:21:38.926946+10:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 6014,
                    "number_of_strs": 43,
                    "number_of_regions": 7
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Royal Melbourne Hospital",
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                        "description": "Royal Melbourne Hospital"
                    },
                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12691",
                "gene_name": "ezrin",
                "omim_gene": [
                    "123900"
                ],
                "alias_name": [
                    "cytovillin 2"
                ],
                "gene_symbol": "EZR",
                "hgnc_symbol": "EZR",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                    },
                    "GRch38": {
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                    }
                },
                "hgnc_date_symbol_changed": "2007-11-29"
            },
            "entity_type": "gene",
            "entity_name": "EZR",
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            "mode_of_pathogenicity": null,
            "publications": [
                "40137958"
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            "evidence": [
                "Expert Review Red",
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                "Congenital enteropathy, MONDO:0009173"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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                "hash_id": null,
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                "status": "public",
                "version": "1.4744",
                "version_created": "2026-04-15T16:21:38.926946+10:00",
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                    "number_of_genes": 6014,
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                    "number_of_regions": 7
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
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                        "description": "Panel used by VCGS."
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                        "name": "Royal Melbourne Hospital",
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                ],
                "child_panel_ids": []
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        },
        {
            "gene_data": {
                "alias": [
                    "TIP-1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:30684",
                "gene_name": "Tax1 binding protein 3",
                "omim_gene": [
                    "616484"
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                    "Tax interaction protein 1"
                ],
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                "hgnc_symbol": "TAX1BP3",
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                "ensembl_genes": {
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                    },
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                },
                "hgnc_date_symbol_changed": "2004-06-15"
            },
            "entity_type": "gene",
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            "publications": [
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                "Familial cardiomyopathy, MONDO:0005217, TAX1BP3-related"
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                },
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                    {
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                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:5386",
                "gene_name": "isocitrate dehydrogenase 3 (NAD(+)) gamma",
                "omim_gene": [
                    "300089"
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                "alias_name": null,
                "gene_symbol": "IDH3G",
                "hgnc_symbol": "IDH3G",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "X:153051221-153059978",
                            "ensembl_id": "ENSG00000067829"
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                    },
                    "GRch38": {
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                            "location": "X:153785766-153794523",
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                    }
                },
                "hgnc_date_symbol_changed": "1995-11-02"
            },
            "entity_type": "gene",
            "entity_name": "IDH3G",
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            "publications": [
                "40119724"
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                "Expert Review Green",
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            "phenotypes": [
                "Retinitis pigmentosa 99, MIM# 301148"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "tags": [],
            "panel": {
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                "hash_id": null,
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                    {
                        "name": "Royal Melbourne Hospital",
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                "hgnc_symbol": "TIMM29",
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            "entity_type": "gene",
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                        "slug": "rare-disease",
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                ],
                "child_panel_ids": []
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            "transcript": null
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        {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29284",
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                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "DIP2B",
                "hgnc_symbol": "DIP2B",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                "hgnc_date_symbol_changed": "2006-01-13"
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            "entity_type": "gene",
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        {
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                    "HZF-16"
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                    {
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                ],
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                        "name": "Victorian Clinical Genetics Services",
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                "biotype": "protein_coding",
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                "child_panel_ids": []
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                "hgnc_symbol": "CDKL1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:50796310-50883179",
                            "ensembl_id": "ENSG00000100490"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "14:50329404-50416461",
                            "ensembl_id": "ENSG00000100490"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-09-07"
            },
            "entity_type": "gene",
            "entity_name": "CDKL1",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "Other",
            "publications": [
                "PMID: 40088891"
            ],
            "evidence": [
                "Expert Review Red",
                "Literature"
            ],
            "phenotypes": [
                "Neurodevelopmental disorder, MONDO:0700092, CDKL1-related"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
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                "status": "public",
                "version": "1.4744",
                "version_created": "2026-04-15T16:21:38.926946+10:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 6014,
                    "number_of_strs": 43,
                    "number_of_regions": 7
                },
                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Royal Melbourne Hospital",
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                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
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            },
            "transcript": null
        },
        {
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                    "XPO3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12826",
                "gene_name": "exportin for tRNA",
                "omim_gene": [
                    "603180"
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                "alias_name": null,
                "gene_symbol": "XPOT",
                "hgnc_symbol": "XPOT",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "12:64798130-64844907",
                            "ensembl_id": "ENSG00000184575"
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                    },
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                    }
                },
                "hgnc_date_symbol_changed": "1999-09-28"
            },
            "entity_type": "gene",
            "entity_name": "XPOT",
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                "10.64898/2026.01.28.26344748"
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                "Expert Review Green",
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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            ],
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                "status": "public",
                "version": "1.4744",
                "version_created": "2026-04-15T16:21:38.926946+10:00",
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                },
                "types": [
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                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
                        "description": "Panel used by VCGS."
                    },
                    {
                        "name": "Royal Melbourne Hospital",
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                        "name": "Rare Disease",
                        "slug": "rare-disease",
                        "description": "Rare disease panels"
                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
            "gene_data": {
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                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8033",
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                "omim_gene": [
                    "191316"
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                "gene_symbol": "NTRK3",
                "hgnc_symbol": "NTRK3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                    },
                    "GRch38": {
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                    }
                },
                "hgnc_date_symbol_changed": "1991-07-18"
            },
            "entity_type": "gene",
            "entity_name": "NTRK3",
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            "mode_of_pathogenicity": null,
            "publications": [],
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                "Expert Review Red",
                "Expert Review Red",
                "ClinGen"
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                "Congenital heart disease, MONDO:0005453"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [
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            ],
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                "version_created": "2026-04-15T16:21:38.926946+10:00",
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                },
                "types": [
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                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
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                    {
                        "name": "Royal Melbourne Hospital",
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                    {
                        "name": "Rare Disease",
                        "slug": "rare-disease",
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                    }
                ],
                "child_panel_ids": []
            },
            "transcript": []
        },
        {
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                    "HRT-1",
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                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4880",
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                "hgnc_symbol": "HEY1",
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                },
                "hgnc_date_symbol_changed": "1999-12-07"
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            "entity_type": "gene",
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                "status": "public",
                "version": "1.4744",
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                "types": [
                    {
                        "name": "Victorian Clinical Genetics Services",
                        "slug": "victorian-clinical-genetics-services",
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                    {
                        "name": "Royal Melbourne Hospital",
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                        "name": "Rare Disease",
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                ],
                "child_panel_ids": []
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        {
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                "hgnc_id": "HGNC:25706",
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                "hgnc_symbol": "WDR59",
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        {
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                "omim_gene": [
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                "child_panel_ids": []
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        {
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                "omim_gene": [
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                "types": [
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                        "name": "Royal Melbourne Hospital",
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        {
            "gene_data": {
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                "hgnc_symbol": "RPA2",
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                "ensembl_genes": {
                    "GRch37": {
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                "39231615"
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                    {
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                    {
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                ],
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        {
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            "entity_type": "gene",
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        {
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