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{
"count": 261,
"next": "https://panelapp-aus.org/api/v1/panels/?format=api&page=2",
"previous": null,
"results": [
{
"id": 3149,
"hash_id": null,
"name": "Achromatopsia",
"disease_group": "Ophthalmological disorders",
"disease_sub_group": "",
"description": "This panel contains genes that cause achromatopsia, a condition characterised by a partial or total absence of colour vision, along with additional visual problems. This panel also contains genes that cause bradyopsia.",
"status": "public",
"version": "1.6",
"version_created": "2026-03-16T10:52:20.739036+11:00",
"relevant_disorders": [
"Achromatopsia",
"HP:0011516"
],
"stats": {
"number_of_genes": 8,
"number_of_strs": 1,
"number_of_regions": 0
},
"types": [
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
},
{
"name": "Rare Disease",
"slug": "rare-disease",
"description": "Rare disease panels"
},
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
}
],
"child_panel_ids": []
},
{
"id": 221,
"hash_id": null,
"name": "Additional findings_Adult",
"disease_group": "Screening",
"disease_sub_group": "",
"description": "This panel was originally developed for the Melbourne Genomics Additional findings flagship.\r\n\r\nThe framework used considered clinical actionability and public screening principles, for full publication see Martyn M et al 2019, PMID: 30776170. The genes included are associated with conditions that are adult-onset, clinically-actionable, have a known management pathway which is publicly funded in Victoria, and have a population frequency of gene variants greater than 1/100,000.\r\n\r\nThis has been updated with the 2023 ACMG V3.2 Secondary Findings list, PMID: 37347242.\r\n\r\nV1.0 was used for the Australian Genomics Acute Care additional findings study.\r\n\r\nThe panel has been updated with ClinGen Adult Actionability assertions.",
"status": "public",
"version": "2.0",
"version_created": "2026-03-16T10:56:03.168206+11:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 136,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "Melbourne Genomics",
"slug": "melbourne-genomics",
"description": "Panel used by a Melbourne Genomics project."
},
{
"name": "Australian Genomics",
"slug": "australian-genomics",
"description": "Panel used by Australian Genomics project."
},
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
}
],
"child_panel_ids": []
},
{
"id": 3302,
"hash_id": null,
"name": "Additional findings_Paediatric",
"disease_group": "Screening",
"disease_sub_group": "",
"description": "This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).",
"status": "public",
"version": "0.280",
"version_created": "2026-01-16T11:59:53.863455+11:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 1425,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "Australian Genomics",
"slug": "australian-genomics",
"description": "Panel used by Australian Genomics project."
}
],
"child_panel_ids": []
},
{
"id": 4523,
"hash_id": null,
"name": "Adrenal insufficiency",
"disease_group": "Endocrine disorders",
"disease_sub_group": "Adrenal disorders",
"description": "This panel contains genes associated with adrenal insufficiency.\r\n\r\nIt includes genes from the Genomics England PanelApp 'congenital adrenal hypoplasia' panel V4.5.",
"status": "public",
"version": "0.76",
"version_created": "2026-03-19T16:21:18.336273+11:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 58,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "Genetic Health Queensland",
"slug": "genetic-health-queensland",
"description": "Panel used by GHQ."
},
{
"name": "Rare Disease",
"slug": "rare-disease",
"description": "Rare disease panels"
},
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
}
],
"child_panel_ids": []
},
{
"id": 4059,
"hash_id": null,
"name": "Adult Cardiac SuperPanel",
"disease_group": "Cardiovascular disorders",
"disease_sub_group": "",
"description": "This is a superpanel composed of the genes associated with adult-onset arrhythmias and cardiomyopathies.",
"status": "public",
"version": "4.3",
"version_created": "2026-04-02T19:34:23.940574+11:00",
"relevant_disorders": [
"Cardiomyopathy",
"HP:0001638; Abnormality of the myocardium",
"HP:0001637; Arrhythmia",
"HP:0011675"
],
"stats": {
"number_of_genes": 241,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
},
{
"name": "Rare Disease",
"slug": "rare-disease",
"description": "Rare disease panels"
},
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
}
],
"child_panel_ids": [
95,
111,
174,
210,
4422,
92,
48,
131,
60,
183
]
},
{
"id": 36,
"hash_id": null,
"name": "Alagille syndrome",
"disease_group": "Dysmorphic and congenital abnormality syndromes",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS.",
"status": "public",
"version": "1.0",
"version_created": "2020-09-24T21:24:48.443596+10:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 2,
"number_of_strs": 0,
"number_of_regions": 0
},
"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": []
},
{
"id": 40,
"hash_id": null,
"name": "Alternating Hemiplegia and Hemiplegic Migraine",
"disease_group": "Neurology and neurodevelopmental disorders",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS. It is a consensus panel used by RMH.\r\n\r\nPlease also refer to the Episodic Ataxia and Paroxysmal Dyskinesia panels.",
"status": "public",
"version": "1.0",
"version_created": "2026-03-24T16:22:18.980474+11:00",
"relevant_disorders": [
"Hemiplegia",
"HP:0002301;Migraine",
"HP:0002076"
],
"stats": {
"number_of_genes": 18,
"number_of_strs": 0,
"number_of_regions": 0
},
"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"
},
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
}
],
"child_panel_ids": []
},
{
"id": 3564,
"hash_id": null,
"name": "Amelogenesis imperfecta",
"disease_group": "Skeletal disorders",
"disease_sub_group": "",
"description": "This panel contains genes associated with amelogenesis imperfecta, which is characterised by dental hypomineralisation and/or hypoplasia, resulting in discolouration, sensitivity and fragility. Both the primary and secondary dentition are commonly affected. Amelogenesis imperfecta can either be isolated or part of other rare disorders.\r\n\r\nConsider the Ectodermal Dysplasia panel if relevant clinical features are present (skin/hair/nail abnormalities) and dental findings are not typical.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.",
"status": "public",
"version": "1.14",
"version_created": "2026-01-09T15:02:14.439855+11:00",
"relevant_disorders": [
"Amelogenesis imperfecta",
"HP:0000705"
],
"stats": {
"number_of_genes": 41,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "Rare Disease",
"slug": "rare-disease",
"description": "Rare disease panels"
},
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
}
],
"child_panel_ids": []
},
{
"id": 3929,
"hash_id": null,
"name": "Aminoacidopathy",
"disease_group": "Metabolic disorders",
"disease_sub_group": "",
"description": "This panel contains genes associated with inborn errors in the metabolism of amino acids. It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.",
"status": "public",
"version": "1.143",
"version_created": "2026-04-01T10:30:06.755640+11:00",
"relevant_disorders": [
"Abnormality of amino acid metabolism",
"HP:0004337"
],
"stats": {
"number_of_genes": 134,
"number_of_strs": 1,
"number_of_regions": 1
},
"types": [
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
},
{
"name": "Rare Disease",
"slug": "rare-disease",
"description": "Rare disease panels"
},
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
}
],
"child_panel_ids": []
},
{
"id": 191,
"hash_id": null,
"name": "Amyloidosis",
"disease_group": "",
"disease_sub_group": "",
"description": "This panel contains genes that cause amyloidosis, characterised by a buildup of abnormal amyloid deposits in the heart, brain, kidneys, spleen and other parts of the body.\r\n\r\nThe panel was originally named \"Renal Amyloidosis\" and was developed by the KidGen Collaborative. It is also a consensus panel used by VCGS and RMH.",
"status": "public",
"version": "1.1",
"version_created": "2025-07-04T20:21:06.835536+10:00",
"relevant_disorders": [
"Renal amyloidosis",
"HP:0001917; Amyloidosis",
"HP:0011034"
],
"stats": {
"number_of_genes": 11,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
},
{
"name": "KidGen",
"slug": "kidgen",
"description": "Panel used by the KidGen Collaborative."
},
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
}
],
"child_panel_ids": []
},
{
"id": 41,
"hash_id": null,
"name": "Angelman Rett like syndromes",
"disease_group": "Dysmorphic and congenital abnormality syndromes",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS.",
"status": "public",
"version": "1.14",
"version_created": "2025-11-28T14:40:40.364746+11:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 38,
"number_of_strs": 0,
"number_of_regions": 0
},
"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": []
},
{
"id": 42,
"hash_id": null,
"name": "Anophthalmia_Microphthalmia_Coloboma",
"disease_group": "Ophthalmological disorders",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS, and contains genes associated with isolated and syndromic anophthalmia, microphthalmia and coloboma.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Anophthalmia or Microphthalmia' v1.31 and 'Ocular coloboma' v1.38 panels, with discrepancies reviewed and reciprocal feedback provided to Genomics England.",
"status": "public",
"version": "1.57",
"version_created": "2026-03-03T11:23:37.804849+11:00",
"relevant_disorders": [
"Anophthalmia",
"HP:0000528;Microphthalmia",
"HP:0000568;Coloboma",
"HP:0000589"
],
"stats": {
"number_of_genes": 101,
"number_of_strs": 0,
"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": []
},
{
"id": 44,
"hash_id": null,
"name": "Aortopathy_Connective Tissue Disorders",
"disease_group": "Cardiovascular disorders",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS and is a consensus panel used by RMH.\r\n\r\nIt contains genes that cause isolated thoracic aortic aneurysm; connective tissue disorders, including Ehlers Danlos syndromes and cutis laxa; and other syndromic/multi-system disorders where connective tissue involvement is prominent.\r\n\r\nThis panel incorporates assessments from the ClinGen Familial Thoracic Aortic Aneurysm and Dissection Gene Curation Expert Panel (PMID: 30071989) and the \r\nThe 2017 international classification of the Ehlers-Danlos syndromes (PMID: 28306229).\r\n\r\nThe panel has been compared against the Genomics England PanelApp 'Thoracic Aortic Aneurysm and Dissection' and 'Ehlers Danlos syndrome' panels, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England.\r\n\r\nFurther comparison and consolidation undertaken against the Genomics England/GMS 'Thoracic aortic aneurysm and dissection' panel V4.0 in July 2025.",
"status": "public",
"version": "1.105",
"version_created": "2026-02-05T18:09:24.690760+11:00",
"relevant_disorders": [
"Aortic aneurysm",
"HP:0004942;Joint dislocation",
"HP:0001373;Cutis laxa",
"HP:0000973; Ectopia lentis",
"HP:0001083;Arachnodactyly",
"HP:0001166"
],
"stats": {
"number_of_genes": 100,
"number_of_strs": 0,
"number_of_regions": 0
},
"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"
},
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
}
],
"child_panel_ids": []
},
{
"id": 254,
"hash_id": null,
"name": "Arrhythmia_SuperPanel",
"disease_group": "Cardiovascular disorders",
"disease_sub_group": "",
"description": "This is an arrhythmia superpanel composed of the Brugada, Long QT, CPVT, Short QT, AF, VF and Cardiac conduction diseaes panels.",
"status": "public",
"version": "5.0",
"version_created": "2026-03-24T17:13:15.292971+11:00",
"relevant_disorders": [
"Arrhythmia",
"HP:0011675"
],
"stats": {
"number_of_genes": 108,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "Superpanel",
"slug": "superpanel",
"description": "Superpanel"
},
{
"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"
},
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
}
],
"child_panel_ids": [
174,
210,
4422,
92,
48,
131,
60,
183
]
},
{
"id": 48,
"hash_id": null,
"name": "Arrhythmogenic Cardiomyopathy",
"disease_group": "Cardiovascular disorders",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe panel has been compared against the Genomics England PanelApp 'Arrhythmogenic Cardiomyopathy' panel and against the current gene-disease curations by the ClinGen ARVC group, 03/08/2020.",
"status": "public",
"version": "1.0",
"version_created": "2026-03-24T16:23:29.666707+11:00",
"relevant_disorders": [
"Arrhythmia",
"HP:0011675;Cardiomyopathy",
"HP:0001638"
],
"stats": {
"number_of_genes": 19,
"number_of_strs": 0,
"number_of_regions": 0
},
"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": []
},
{
"id": 47,
"hash_id": null,
"name": "Arthrogryposis",
"disease_group": "Neurology and neurodevelopmental disorders",
"disease_sub_group": "",
"description": "This panel contains genes that have been associated with multiple congenital contractures (arthrogryposis). Primary genetic aetiologies include neuropathic processes; myopathic processes; end-plate abnormalities; and syndromic/metabolic disorders that affect the movement of the developing embryo/fetus.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Arthrogryposis' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 1/8/2020.\r\n\r\nUpdated following literature review 25/11/2025.",
"status": "public",
"version": "1.19",
"version_created": "2026-04-02T19:32:17.814766+11:00",
"relevant_disorders": [
"Flexion contracture",
"HP:0001371"
],
"stats": {
"number_of_genes": 241,
"number_of_strs": 0,
"number_of_regions": 0
},
"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"
},
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
}
],
"child_panel_ids": []
},
{
"id": 271,
"hash_id": null,
"name": "Ataxia",
"disease_group": "Neurology and neurodevelopmental disorders",
"disease_sub_group": "",
"description": "This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.",
"status": "public",
"version": "1.202",
"version_created": "2026-04-02T15:02:17.166617+11:00",
"relevant_disorders": [
"Ataxia",
"HP:0001251"
],
"stats": {
"number_of_genes": 328,
"number_of_strs": 21,
"number_of_regions": 2
},
"types": [
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
},
{
"name": "Rare Disease",
"slug": "rare-disease",
"description": "Rare disease panels"
},
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
}
],
"child_panel_ids": []
},
{
"id": 210,
"hash_id": null,
"name": "Atrial Fibrillation",
"disease_group": "Cardiovascular disorders",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS.",
"status": "public",
"version": "1.7",
"version_created": "2026-02-21T14:22:02.485023+11:00",
"relevant_disorders": [
"Atrial fibrillation",
"HP:0005110"
],
"stats": {
"number_of_genes": 8,
"number_of_strs": 0,
"number_of_regions": 0
},
"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": []
},
{
"id": 211,
"hash_id": null,
"name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"disease_group": "Renal and urinary tract disorders",
"disease_sub_group": "",
"description": "Renal complement disorders panel including atypical Haemolytic Uraemic Syndrome (aHUS) and Membranoproliferative Glomerulonephritis (MPGN).\r\n\r\nThis panel was developed and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS and RMH.\r\n\r\nThe contents of this panel have been compared against the Genomics England PanelApp aHUS and MPGN panels, and discrepancies have been reviewed and resolved by Chirag Patel and Zornitza Stark, with reciprocal reviews provided to Genomics England. 09/01/2020",
"status": "public",
"version": "1.0",
"version_created": "2026-03-24T16:31:25.995226+11:00",
"relevant_disorders": [
"Haemolytic anaemia",
"HP:0001878"
],
"stats": {
"number_of_genes": 16,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
},
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
},
{
"name": "KidGen",
"slug": "kidgen",
"description": "Panel used by the KidGen Collaborative."
},
{
"name": "Rare Disease",
"slug": "rare-disease",
"description": "Rare disease panels"
}
],
"child_panel_ids": []
},
{
"id": 51,
"hash_id": null,
"name": "Autism",
"disease_group": "Neurology and neurodevelopmental disorders",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS.",
"status": "public",
"version": "0.248",
"version_created": "2026-03-19T12:51:18.584438+11:00",
"relevant_disorders": [
"Autism",
"HP:0000717"
],
"stats": {
"number_of_genes": 157,
"number_of_strs": 0,
"number_of_regions": 6
},
"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"
},
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
}
],
"child_panel_ids": []
},
{
"id": 4389,
"hash_id": null,
"name": "Autoimmune Lymphoproliferative Syndrome",
"disease_group": "Immunological disorders",
"disease_sub_group": "",
"description": "This panel has been compiled based on the following study:\r\n\r\nGenetic Testing in Patients with Autoimmune Lymphoproliferative Syndrome: Experience of 802 Patients at Cincinnati Children’s Hospital Medical Center (PMID: 39060684)",
"status": "public",
"version": "1.12",
"version_created": "2026-02-26T20:52:40.847942+11:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 20,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "Rare Disease",
"slug": "rare-disease",
"description": "Rare disease panels"
},
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
}
],
"child_panel_ids": []
},
{
"id": 238,
"hash_id": null,
"name": "Autoinflammatory Disorders",
"disease_group": "Immunological disorders",
"disease_sub_group": "",
"description": "This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Fiona Moghaddas and Dr Seth Masters (Walter and Eliza Hall Institute).",
"status": "public",
"version": "2.46",
"version_created": "2026-03-16T12:22:08.572710+11:00",
"relevant_disorders": [
"Fever HP:0001945;Systemic autoinflammation HP:0033428"
],
"stats": {
"number_of_genes": 108,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
},
{
"name": "Melbourne Genomics",
"slug": "melbourne-genomics",
"description": "Panel used by a Melbourne Genomics project."
},
{
"name": "Rare Disease",
"slug": "rare-disease",
"description": "Rare disease panels"
},
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
}
],
"child_panel_ids": []
},
{
"id": 3439,
"hash_id": null,
"name": "Autonomic neuropathy",
"disease_group": "Autonomic Neuropathy",
"disease_sub_group": "",
"description": "This panel contains genes associated with autonomic neuropathy/dysautonomia, including genes associated with hereditary sensory and autonomic neuropathies (HSAN).",
"status": "public",
"version": "1.2",
"version_created": "2026-03-24T17:08:06.931372+11:00",
"relevant_disorders": [
"Abnormality of the autonomic nervous system HP:0002270"
],
"stats": {
"number_of_genes": 19,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "Rare Disease",
"slug": "rare-disease",
"description": "Rare disease panels"
},
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
}
],
"child_panel_ids": []
},
{
"id": 53,
"hash_id": null,
"name": "Bardet Biedl syndrome",
"disease_group": "Dysmorphic and congenital abnormality syndromes",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS and is a consensus panel used by RMH.\r\n\r\nBardet Biedl syndrome is a multisystem ciliopathy characterised by a combination of obesity, pigmentary retinopathy, post-axial polydactyly, polycystic kidneys, hypogenitalism, and learning disabilities.\r\n\r\nMany ciliopathies present with overlapping features, please refer to the Ciliopathy panel if broader spectrum of conditions are being considered.",
"status": "public",
"version": "1.14",
"version_created": "2025-05-21T20:50:29.131780+10:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 27,
"number_of_strs": 0,
"number_of_regions": 0
},
"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"
},
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
}
],
"child_panel_ids": []
},
{
"id": 4360,
"hash_id": null,
"name": "Basal Cell Cancer",
"disease_group": "Cancer Predisposition",
"disease_sub_group": "",
"description": "This panel contains genes associated with basal cell cancer. \r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with basal cell cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).",
"status": "public",
"version": "1.1",
"version_created": "2024-11-01T16:26:31.314601+11:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 3,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "Cancer Germline",
"slug": "cancer-germline",
"description": "Germline cancer panel"
},
{
"name": "Genetic Health Queensland",
"slug": "genetic-health-queensland",
"description": "Panel used by GHQ."
},
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
},
{
"name": "Adult Genetics Unit, Royal Adelaide Hospital",
"slug": "adult-genetics-unit-royal-adelaide-hospital",
"description": "Adult Genetics Unit, Royal Adelaide Hospital"
}
],
"child_panel_ids": []
},
{
"id": 54,
"hash_id": null,
"name": "Bleeding and Platelet Disorders",
"disease_group": "Haematological disorders",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with coagulation, platelet and blood vessel disorders that predispose to bleeding and to thrombosis.",
"status": "public",
"version": "1.76",
"version_created": "2026-03-24T18:30:58.578812+11:00",
"relevant_disorders": [
"Abnormal bleeding",
"HP:0001892;Abnormal thrombosis",
"HP:0001977"
],
"stats": {
"number_of_genes": 140,
"number_of_strs": 0,
"number_of_regions": 0
},
"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": []
},
{
"id": 55,
"hash_id": null,
"name": "Blepharophimosis",
"disease_group": "Ophthalmological disorders",
"disease_sub_group": "",
"description": "This panel contains genes associated with syndromic and non-syndromic blepharophimosis.",
"status": "public",
"version": "1.3",
"version_created": "2025-04-27T09:04:52.368864+10:00",
"relevant_disorders": [
"Blepharophimosis",
"HP:0000581"
],
"stats": {
"number_of_genes": 23,
"number_of_strs": 1,
"number_of_regions": 0
},
"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": []
},
{
"id": 56,
"hash_id": null,
"name": "Bone Marrow Failure",
"disease_group": "Haematological disorders",
"disease_sub_group": "",
"description": "Bone marrow failure (BMF) refers to the decreased production of one or more major haematopoietic lineages which leads to diminished or absent haematopoietic precursors in the bone marrow and attendant cytopaenias.\r\n\r\nThis panel was developed and is maintained by VCGS. It contains all the genes on the Peter MacCallum Bone Marrow Failure panel, as of 2/3/2020, and includes all the genes associated with telomere disorders (Dysterkeratosis Congenita).\r\n\r\nIt has been updated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.",
"status": "public",
"version": "1.141",
"version_created": "2026-03-17T18:48:23.244194+11:00",
"relevant_disorders": [
"Abnormality of multiple cell lineages of the bone marrow",
"HP:0012145"
],
"stats": {
"number_of_genes": 151,
"number_of_strs": 0,
"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"
},
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
}
],
"child_panel_ids": []
},
{
"id": 58,
"hash_id": null,
"name": "Brain Calcification",
"disease_group": "Neurology and neurodevelopmental disorders",
"disease_sub_group": "",
"description": "Primary brain calcification disorders are characterised by abnormal deposits of calcium in blood vessels within the brain, particularly the basal ganglia. They typically present with movement disorders and psychiatric or behavioural problems. This panel also contains other multi-system conditions where brain calcification can occur as part of the phenotype.\r\n\r\nThis panel was developed and is maintained by VCGS.\r\n\r\nThe panel has been compared against the Genomics England PanelApp Intracerebral Calcifications panel V1.27 with all discrepancies resolved and reciprocal feedback provided to Genomics England.\r\n\r\nUpdated December 2025 following literature review.",
"status": "public",
"version": "2.6",
"version_created": "2026-01-08T18:01:53.861975+11:00",
"relevant_disorders": [
"Cerebral calcification",
"HP:0002514"
],
"stats": {
"number_of_genes": 96,
"number_of_strs": 0,
"number_of_regions": 0
},
"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"
},
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
}
],
"child_panel_ids": []
},
{
"id": 74,
"hash_id": null,
"name": "Brain Channelopathies",
"disease_group": "Neurology and neurodevelopmental disorders",
"disease_sub_group": "",
"description": "This panel was developed by and is maintained by VCGS.\r\n\r\nBrain channelopathies typically cause episodes of neurological dysfunction including a combination of ataxia, dystonia, abnormal extra movements, leg stiffness, weakness, headache and nausea. The episodes can last a few minutes or hours. Some patients have a primary headache in the form of hemiplegic migraine.\r\n\r\nThe Alternating Hemiplegia_Hemiplegic Migraine, Paroxysmal Dyskinesia, Ataxia and Dystonia panels may be considered where the clinical presentation is less clearly indicative of a brain channelopathy.\r\n\r\nThis panel has been compared against the Genomics England 'Brain Channelopathy' panel with all discordances resolved and reciprocal feedback provided to Genomics England PanelApp, 20/8/20.",
"status": "public",
"version": "1.5",
"version_created": "2025-10-16T17:46:30.269069+11:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 22,
"number_of_strs": 0,
"number_of_regions": 0
},
"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"
},
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
}
],
"child_panel_ids": []
},
{
"id": 4375,
"hash_id": null,
"name": "Breast Cancer",
"disease_group": "Cancer Predisposition",
"disease_sub_group": "",
"description": "This panel contains genes associated with breast cancer. \r\n\r\nFurther information on the testing criteria for breast cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3413-breast-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with breast cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).",
"status": "public",
"version": "1.19",
"version_created": "2026-01-12T09:35:45.451588+11:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 29,
"number_of_strs": 0,
"number_of_regions": 1
},
"types": [
{
"name": "Cancer Germline",
"slug": "cancer-germline",
"description": "Germline cancer panel"
},
{
"name": "Genetic Health Queensland",
"slug": "genetic-health-queensland",
"description": "Panel used by GHQ."
},
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
},
{
"name": "Adult Genetics Unit, Royal Adelaide Hospital",
"slug": "adult-genetics-unit-royal-adelaide-hospital",
"description": "Adult Genetics Unit, Royal Adelaide Hospital"
}
],
"child_panel_ids": []
},
{
"id": 60,
"hash_id": null,
"name": "Brugada syndrome",
"disease_group": "Cardiovascular disorders",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS.",
"status": "public",
"version": "0.46",
"version_created": "2026-02-06T09:29:49.325637+11:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 23,
"number_of_strs": 0,
"number_of_regions": 0
},
"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": []
},
{
"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": []
},
{
"id": 152,
"hash_id": null,
"name": "Cancer Predisposition_Paediatric",
"disease_group": "Cancer",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS.",
"status": "public",
"version": "0.133",
"version_created": "2026-01-12T09:35:45.797477+11:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 106,
"number_of_strs": 0,
"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": []
},
{
"id": 4422,
"hash_id": null,
"name": "Cardiac conduction disease",
"disease_group": "Cardiovascular disorders",
"disease_sub_group": "",
"description": "This panel contains genes associated with cardiac conduction disease, including heart block and abnormal atrioventricular conduction. It contains all the genes associated with Sick sinus syndrome.\r\n\r\nThis panel is based on the PanelApp UK \"Progressive cardiac conduction disease\" panel, with thanks to Genomics England. It is a constituent of the Arrhythmia Superpanel and Adult Cardiac Superpanel.",
"status": "public",
"version": "1.6",
"version_created": "2026-02-19T13:33:52.737749+11:00",
"relevant_disorders": [
"Cardiac conduction abnormality",
"HP:0031546"
],
"stats": {
"number_of_genes": 20,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
},
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
}
],
"child_panel_ids": []
},
{
"id": 253,
"hash_id": null,
"name": "Cardiomyopathy_Adult_SuperPanel",
"disease_group": "Cardiovascular disorders",
"disease_sub_group": "",
"description": "This panel combines the DCM, HCM and ARVC panels. For paediatric patients, please use the Cardiomyopathy_Paediatric in addition to this panel.",
"status": "promoted",
"version": "3.3",
"version_created": "2026-04-02T19:34:24.118219+11:00",
"relevant_disorders": [
"Cardiomyopathy",
"HP:0001638; Abnormality of the myocardium",
"HP:0001637"
],
"stats": {
"number_of_genes": 152,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "Superpanel",
"slug": "superpanel",
"description": "Superpanel"
},
{
"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"
},
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
}
],
"child_panel_ids": [
95,
111,
48
]
},
{
"id": 3270,
"hash_id": null,
"name": "Cardiomyopathy_Paediatric",
"disease_group": "Cardiovascular disorders",
"disease_sub_group": "",
"description": "With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.",
"status": "public",
"version": "0.229",
"version_created": "2026-03-31T18:53:53.165018+11:00",
"relevant_disorders": [
"Cardiomyopathy",
"HP:0001638;Abnormality of the myocardium",
"HP:0001637"
],
"stats": {
"number_of_genes": 252,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "Rare Disease",
"slug": "rare-disease",
"description": "Rare disease panels"
},
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
}
],
"child_panel_ids": []
},
{
"id": 66,
"hash_id": null,
"name": "Cataract",
"disease_group": "Ophthalmological disorders",
"disease_sub_group": "",
"description": "This panel contains genes that cause conditions with cataract as a feature, and was created by merging the panels developed by VCGS and RMH.\r\n\r\nCataracts due to monogenic conditions are often present at birth or appear in childhood or young adulthood. The lens alone may be involved, or lens opacities may be associated with other ocular anomalies, such as microphthalmia, aniridia, or other anterior chamber developmental anomalies. Cataracts may also be part of multisystem genetic disorders such as syndromes or metabolic conditions.\r\n\r\nThis panel has been compared against the Genomics England/NHS GMS panel Bilateral congenital or childhood onset cataracts (Version 7.5) on 29/12/2025 with all discrepancies reviewed.\r\n\r\nUpdated following literature review in February 2026.",
"status": "public",
"version": "1.3",
"version_created": "2026-03-31T18:43:23.306556+11:00",
"relevant_disorders": [
"Cataract",
"HP:0000518"
],
"stats": {
"number_of_genes": 258,
"number_of_strs": 2,
"number_of_regions": 0
},
"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"
},
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
}
],
"child_panel_ids": []
},
{
"id": 92,
"hash_id": null,
"name": "Catecholaminergic Polymorphic Ventricular Tachycardia",
"disease_group": "Cardiovascular disorders",
"disease_sub_group": "",
"description": "This panel was developed by and is maintained by VCGS.",
"status": "public",
"version": "1.0",
"version_created": "2026-03-24T17:13:14.934982+11:00",
"relevant_disorders": [
"Polymorphic ventricular tachycardia HP:0031677"
],
"stats": {
"number_of_genes": 10,
"number_of_strs": 0,
"number_of_regions": 0
},
"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": []
},
{
"id": 71,
"hash_id": null,
"name": "Central Hypoventilation",
"disease_group": "Neurology and neurodevelopmental disorders",
"disease_sub_group": "",
"description": "This panel was developed by and is maintained by VCGS.\r\n\r\nMore than 90% of individuals with congenital central hypoventilation syndrome have variants in the PHOX2B gene, most commonly an expansion of the polyalanine tract, which may not be tractable by all NGS assays.",
"status": "public",
"version": "1.7",
"version_created": "2026-01-04T18:41:11.422790+11:00",
"relevant_disorders": [
"Central hypoventilation HP:0007110"
],
"stats": {
"number_of_genes": 12,
"number_of_strs": 1,
"number_of_regions": 0
},
"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": []
},
{
"id": 72,
"hash_id": null,
"name": "Cerebellar and Pontocerebellar Hypoplasia",
"disease_group": "Neurology and neurodevelopmental disorders",
"disease_sub_group": "",
"description": "This panel was created by merging the panels used by VCGS and RMH and is a consensus panel maintained by both.",
"status": "public",
"version": "1.100",
"version_created": "2026-04-02T11:42:58.167964+11:00",
"relevant_disorders": [
"Aplasia/hypoplasia of the cerebellum HP:0007360;Pontocerebellar atrophy HP:0006879"
],
"stats": {
"number_of_genes": 122,
"number_of_strs": 0,
"number_of_regions": 0
},
"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"
},
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
}
],
"child_panel_ids": []
},
{
"id": 3961,
"hash_id": null,
"name": "Cerebral amyloid angiopathy",
"disease_group": "Neurology and neurodevelopmental disorders",
"disease_sub_group": "",
"description": "This panel contains the genes that are associated with cerebral amyloid angiopathy.\r\n\r\nFor differential diagnoses, the early-onset dementia panel is more suitable.",
"status": "public",
"version": "1.1",
"version_created": "2022-11-22T17:58:32.163408+11:00",
"relevant_disorders": [
"Cerebral amyloid angiopathy",
"HP:0011970"
],
"stats": {
"number_of_genes": 7,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
}
],
"child_panel_ids": []
},
{
"id": 73,
"hash_id": null,
"name": "Cerebral Palsy",
"disease_group": "Neurology and neurodevelopmental disorders",
"disease_sub_group": "",
"description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.",
"status": "public",
"version": "1.410",
"version_created": "2026-02-17T16:35:59.013988+11:00",
"relevant_disorders": [
"Cerebral palsy HP:0100021"
],
"stats": {
"number_of_genes": 364,
"number_of_strs": 0,
"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"
},
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
}
],
"child_panel_ids": []
},
{
"id": 3144,
"hash_id": null,
"name": "Cerebral vascular malformations",
"disease_group": "Neurology and neurodevelopmental disorders",
"disease_sub_group": "",
"description": "This panel contains genes associated with cerebral vascular malformations, including:\r\nVein of Galen malformation\r\nCerebral vascular malformations\r\nMoyamoya disease\r\n\r\nConsider applying the Stroke and Aortopathy_Connective Tissue Disorders panels due to overlap in clinical features.\r\nWith thanks to the Genomics England PanelApp team for the original design.",
"status": "public",
"version": "1.12",
"version_created": "2026-01-22T10:52:30.127872+11:00",
"relevant_disorders": [
"Abnormal cerebral vascular morphology HP:0100659"
],
"stats": {
"number_of_genes": 54,
"number_of_strs": 0,
"number_of_regions": 1
},
"types": [
{
"name": "Rare Disease",
"slug": "rare-disease",
"description": "Rare disease panels"
},
{
"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"
}
],
"child_panel_ids": []
},
{
"id": 3498,
"hash_id": null,
"name": "Choanal atresia",
"disease_group": "Dysmorphic and congenital abnormality syndromes",
"disease_sub_group": "",
"description": "This panel contains genes associated with choanal atresia, with or without additional malformations, with thanks to Genomics England PanelApp for the original design of this panel.",
"status": "public",
"version": "1.6",
"version_created": "2024-10-03T11:49:26.278825+10:00",
"relevant_disorders": [
"Choanal atresia HP:0000453"
],
"stats": {
"number_of_genes": 16,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "Rare Disease",
"slug": "rare-disease",
"description": "Rare disease panels"
},
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
}
],
"child_panel_ids": []
},
{
"id": 78,
"hash_id": null,
"name": "Cholestasis",
"disease_group": "Gastroenterological disorders",
"disease_sub_group": "",
"description": "This panel was developed by and is maintained by VCGS.\r\n\r\nIt includes primary liver disorders as well as metabolic and other multi-system disorders that have been reported to cause cholestasis.\r\n\r\nPlease also consider using the Liver Failure_Paediatric panel if clinically indicated.\r\n\r\nThe content of this panel has been compared against the Genomics England PanelApp 'Cholestasis' panel V1.21, with all discrepancies reviewed and resolved, and reciprocal feedback provided to Genomics England.",
"status": "public",
"version": "1.10",
"version_created": "2026-03-26T17:26:27.105917+11:00",
"relevant_disorders": [
"Cholestasis HP:0001396"
],
"stats": {
"number_of_genes": 99,
"number_of_strs": 0,
"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"
},
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
}
],
"child_panel_ids": []
},
{
"id": 79,
"hash_id": null,
"name": "Chromosome Breakage Disorders",
"disease_group": "Dysmorphic and congenital abnormality syndromes",
"disease_sub_group": "",
"description": "This panel was created and is maintained by VCGS.\r\n\r\nChromosomal instability syndromes are a group of inherited disorders associated with chromosomal instability and breakage either spontaneously or in response to DNA damaging agents. They include ataxia telangiectasia, Bloom syndrome, Fanconi anaemia, Nijmegen breakage syndrome, immunodeficiency/centromeric instability/facial anomalies syndrome, Cockayne syndrome, trichothiodystrophy, xeroderma pigmentosum, DNA ligase I deficiency, and DNA recombinase repair defects.\r\n\r\nTypical features include impairment of growth, immunodeficiency, predisposition to infectious disease, and the risk of developing certain types of malignancies.",
"status": "public",
"version": "1.24",
"version_created": "2025-10-16T15:58:38.818741+11:00",
"relevant_disorders": [
"Chromosome breakage HP:0040012"
],
"stats": {
"number_of_genes": 60,
"number_of_strs": 0,
"number_of_regions": 0
},
"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": []
},
{
"id": 3159,
"hash_id": null,
"name": "Chronic granulomatous disease",
"disease_group": "Immunological disorders",
"disease_sub_group": "",
"description": "This panel contains genes that cause chronic granulomatous disease.\r\n\r\nChronic granulomatous disease (CGD) is an inherited defect in phagocytic respiratory burst that results in severe and life-threatening infections in children.",
"status": "public",
"version": "1.3",
"version_created": "2023-01-03T12:30:39.102790+11:00",
"relevant_disorders": [
"Chronic granulomatous disease",
"MONDO:0018305; Recurrent bacterial infections",
"HP:0002718"
],
"stats": {
"number_of_genes": 8,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
},
{
"name": "Rare Disease",
"slug": "rare-disease",
"description": "Rare disease panels"
},
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
}
],
"child_panel_ids": []
},
{
"id": 82,
"hash_id": null,
"name": "Ciliary Dyskinesia",
"disease_group": "Respiratory disorders",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS. It contains conditions caused by defects in the motile cilia, primarily those presenting with respiratory phenotypes. It also contains a small number of other genes that cause conditions with significant phenotypic overlap.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Respiratory Ciliopathies including non-CF bronchiectasis' panel V1.3, with all discrepancies resolved and reciprocal feedback provided to Genomics England.",
"status": "public",
"version": "1.75",
"version_created": "2026-03-30T10:17:46.701193+11:00",
"relevant_disorders": [
"Ciliary dyskinesia HP:0012265;Recurrent respiratory infections HP:0002205"
],
"stats": {
"number_of_genes": 77,
"number_of_strs": 0,
"number_of_regions": 0
},
"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"
},
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
}
],
"child_panel_ids": []
},
{
"id": 84,
"hash_id": null,
"name": "Ciliopathies",
"disease_group": "Dysmorphic and congenital abnormality syndromes",
"disease_sub_group": "",
"description": "This panel was created by merging the Ciliopathy panels created by VCGS and RMH and is a consensus panel used by both.\r\n\r\nIt covers conditions caused by mutations in the genes encoding non-motile cilia components as well as a small number of conditions that can present as phenocopies.\r\n\r\nPlease note a number of smaller panels are available that cover specific ciliopathy phenotypes such as Bardet-Biedl syndrome, Jeune syndrome and Joubert syndrome.\r\n\r\nPlease refer to the Ciliary Dyskinesia panel for conditions caused by mutations in genes encoding components of the motile cilia, which present with predominantly respiratory phenotypes.",
"status": "public",
"version": "1.99",
"version_created": "2026-02-26T20:47:06.255758+11:00",
"relevant_disorders": [
"Ciliopathy",
"MONDO:0005308"
],
"stats": {
"number_of_genes": 158,
"number_of_strs": 0,
"number_of_regions": 2
},
"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"
},
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
}
],
"child_panel_ids": []
},
{
"id": 3368,
"hash_id": null,
"name": "Clefting disorders",
"disease_group": "Dysmorphic and congenital abnormality syndromes",
"disease_sub_group": "Dysmorphic disorders",
"description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.",
"status": "public",
"version": "0.312",
"version_created": "2026-02-24T14:38:08.760295+11:00",
"relevant_disorders": [
"Oral cleft HP:0000202"
],
"stats": {
"number_of_genes": 314,
"number_of_strs": 2,
"number_of_regions": 5
},
"types": [
{
"name": "Rare Disease",
"slug": "rare-disease",
"description": "Rare disease panels"
},
{
"name": "Genetic Health Queensland",
"slug": "genetic-health-queensland",
"description": "Panel used by GHQ."
},
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
}
],
"child_panel_ids": []
},
{
"id": 6,
"hash_id": null,
"name": "Cobblestone Malformations",
"disease_group": "Neurology and neurodevelopmental disorders",
"disease_sub_group": "",
"description": "This panel was developed and used by the Australian Genomics Brain Malformations flagship. It is maintained by VCGS.\r\n\r\nCobblestone lissencephaly is characterised by a nodular brain surface, ocular anomalies, and congenital muscular disorders. Cobblestone cortex results from overmigration of the neuroblasts and glial cells beyond the external glial limitations into the subarachnoid space.\r\n\r\nPlease also consider the Lissencephaly and Band Heterotopia panel and the broader Malformations of cortical development superpanel if features are not entirely typical.",
"status": "public",
"version": "1.1",
"version_created": "2022-10-07T18:15:15.150864+11:00",
"relevant_disorders": [
"Abnormal cortical gyration HP:0002536"
],
"stats": {
"number_of_genes": 13,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
},
{
"name": "Australian Genomics",
"slug": "australian-genomics",
"description": "Panel used by Australian Genomics project."
},
{
"name": "Rare Disease",
"slug": "rare-disease",
"description": "Rare disease panels"
}
],
"child_panel_ids": []
},
{
"id": 4371,
"hash_id": null,
"name": "Colorectal Cancer and Polyposis",
"disease_group": "Cancer Predisposition",
"disease_sub_group": "",
"description": "This panel contains genes associated with colorectal cancer and polyposis. \r\n\r\nFurther information on the testing criteria for colorectal cancer and polyposis can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/4116-gastrointestinal-polyposis-and-colorectal-can\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with colorectal cancer and polyposis and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).",
"status": "public",
"version": "1.4",
"version_created": "2025-11-20T12:31:46.390137+11:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 22,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "Cancer Germline",
"slug": "cancer-germline",
"description": "Germline cancer panel"
},
{
"name": "Genetic Health Queensland",
"slug": "genetic-health-queensland",
"description": "Panel used by GHQ."
},
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
},
{
"name": "Adult Genetics Unit, Royal Adelaide Hospital",
"slug": "adult-genetics-unit-royal-adelaide-hospital",
"description": "Adult Genetics Unit, Royal Adelaide Hospital"
}
],
"child_panel_ids": []
},
{
"id": 223,
"hash_id": null,
"name": "Combined Immunodeficiency",
"disease_group": "Immunological disorders",
"disease_sub_group": "",
"description": "This panel contains genes that cause combined immunodeficiencies with associated or syndromic features, including genes classified by the International Union of Immunological Societies Inborn Errors of Immunity Committee (July 2024 update). These include genes that fall into the following subcategories:\r\n- Immunodeficiency with Congenital Thrombocytopenia\r\n- DNA Repair Defects\r\n- Thymic Defects with Additional Congenital Anomalies\r\n- Immuno-osseous Dysplasias\r\n- Hyper IgE Syndromes (HIES)\r\n- Defects of Vitamin B12 and Folate Metabolism\r\n- Anhidrotic Ectodermodysplasia with Immunodeficiency (EDA-ID)\r\n- Calcium Channel Defects\r\n- Other Combined immunodeficiencies with syndromic features\r\n- Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency (Immunodeficiencies affecting cellular and humoral immunity)\r\n\r\nThis panel was originally developed by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital) for the Melbourne Genomics Immunology Flagship.",
"status": "public",
"version": "1.145",
"version_created": "2026-03-02T21:55:19.238904+11:00",
"relevant_disorders": [
"Combined immunodeficiency",
"MONDO:0015131; Combined immunodeficiency",
"HP:0005387"
],
"stats": {
"number_of_genes": 170,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
},
{
"name": "Melbourne Genomics",
"slug": "melbourne-genomics",
"description": "Panel used by a Melbourne Genomics project."
},
{
"name": "Rare Disease",
"slug": "rare-disease",
"description": "Rare disease panels"
},
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
}
],
"child_panel_ids": []
},
{
"id": 3443,
"hash_id": null,
"name": "Common deletion and duplication syndromes",
"disease_group": "",
"disease_sub_group": "",
"description": "Under construction",
"status": "public",
"version": "0.156",
"version_created": "2026-02-06T14:14:01.107904+11:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 0,
"number_of_strs": 0,
"number_of_regions": 71
},
"types": [
{
"name": "Rare Disease",
"slug": "rare-disease",
"description": "Rare disease panels"
},
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
}
],
"child_panel_ids": []
},
{
"id": 224,
"hash_id": null,
"name": "Complement Deficiencies",
"disease_group": "Immunological disorders",
"disease_sub_group": "",
"description": "This panel contains all the genes that are associated with complement deficiencies.\r\n\r\nIt has been updated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).",
"status": "public",
"version": "1.2",
"version_created": "2025-10-30T13:50:05.331358+11:00",
"relevant_disorders": [
"Abnormality of complement system",
"HP:0005339"
],
"stats": {
"number_of_genes": 34,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
},
{
"name": "Melbourne Genomics",
"slug": "melbourne-genomics",
"description": "Panel used by a Melbourne Genomics project."
},
{
"name": "Rare Disease",
"slug": "rare-disease",
"description": "Rare disease panels"
},
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
}
],
"child_panel_ids": []
},
{
"id": 3147,
"hash_id": null,
"name": "Cone-rod Dystrophy",
"disease_group": "Ophthalmological disorders",
"disease_sub_group": "",
"description": "This panel contains genes that cause non-syndromic cone and cone-rod dystrophies, characterised by cone photoreceptor degeneration, which may be followed by subsequent rod photoreceptor loss. This panel was developed and is maintained by RMH, and is a consensus panel used by VCGS.\r\n\r\nConsider using the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.",
"status": "public",
"version": "0.67",
"version_created": "2026-04-01T10:29:43.490911+11:00",
"relevant_disorders": [
"Retinal dystrophy",
"HP:0000556"
],
"stats": {
"number_of_genes": 41,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
},
{
"name": "Rare Disease",
"slug": "rare-disease",
"description": "Rare disease panels"
},
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
}
],
"child_panel_ids": []
},
{
"id": 4522,
"hash_id": null,
"name": "Congenital adrenal hyperplasia",
"disease_group": "Endocrine disorders",
"disease_sub_group": "Adrenal disorders",
"description": "This panel contains genes associated with congenital adrenal hyperplasia.\r\n\r\nFor a high suspicion of 21-hydroxylase deficiency CAH: \r\nrequest a specific assay of CYP21A2 gene which includes analysis of deletions, duplications, and gene conversions.",
"status": "public",
"version": "0.8",
"version_created": "2026-01-29T13:38:25.687384+11:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 6,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "Genetic Health Queensland",
"slug": "genetic-health-queensland",
"description": "Panel used by GHQ."
},
{
"name": "Rare Disease",
"slug": "rare-disease",
"description": "Rare disease panels"
},
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
}
],
"child_panel_ids": []
},
{
"id": 63,
"hash_id": null,
"name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"disease_group": "Renal and urinary tract disorders",
"disease_sub_group": "",
"description": "This panel contains genes associated with nonsyndromic and syndromic congenital anomalies of the kidney and urinary tract (CAKUT).",
"status": "public",
"version": "0.204",
"version_created": "2026-03-19T13:24:30.325727+11:00",
"relevant_disorders": [
"Abnormality of the urinary system HP:0000079"
],
"stats": {
"number_of_genes": 124,
"number_of_strs": 1,
"number_of_regions": 2
},
"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": []
},
{
"id": 69,
"hash_id": null,
"name": "Congenital diaphragmatic hernia",
"disease_group": "Dysmorphic and congenital abnormality syndromes",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS and contains genes associated with syndromic and non-syndromic congenital diaphragmatic hernia.\r\n\r\nNote pathogenic variants in a broad range of genes have been ascertained in CDH cohorts (e.g. PMID 33461977), so a broader testing approach is recommended particularly in the perinatal period.",
"status": "public",
"version": "1.18",
"version_created": "2025-11-21T16:59:26.431729+11:00",
"relevant_disorders": [
"Congenital diaphragmatic hernia HP:0000776"
],
"stats": {
"number_of_genes": 49,
"number_of_strs": 0,
"number_of_regions": 0
},
"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"
},
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
}
],
"child_panel_ids": []
},
{
"id": 89,
"hash_id": null,
"name": "Congenital Diarrhoea",
"disease_group": "Gastroenterological disorders",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS.\r\n\r\nCongenital diarrhoeal disorders (CDDs) are a group of inherited enteropathies with a typical onset early in the life, and frequent requirement for parenteral nutrition. Severe chronic diarrhoea may be the main clinical manifestation or it may be a component of a more complex multi-organ or systemic disease.\r\n\r\nCDDs can be classified in four groups: (i) defects of digestion, absorption and transport of nutrients and electrolytes; (ii) defects of enterocyte differentiation and polarisation; (iii) defects of enteroendocrine cell differentiation; (iv) defects of modulation of intestinal immune response.",
"status": "public",
"version": "1.30",
"version_created": "2025-11-20T10:28:34.792243+11:00",
"relevant_disorders": [
"Diarrhea HP:0002014"
],
"stats": {
"number_of_genes": 46,
"number_of_strs": 0,
"number_of_regions": 0
},
"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": []
},
{
"id": 68,
"hash_id": null,
"name": "Congenital Disorders of Glycosylation",
"disease_group": "Metabolic disorders",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Congenital Disorders of Glycosylation' panel v2.4 with all discrepancies resolved and reciprocal feedback provided to Genomics England.",
"status": "public",
"version": "1.85",
"version_created": "2026-04-02T10:46:27.496905+11:00",
"relevant_disorders": [
"Abnormal transferrin saturation",
"HP:0040135"
],
"stats": {
"number_of_genes": 141,
"number_of_strs": 1,
"number_of_regions": 0
},
"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": []
},
{
"id": 76,
"hash_id": null,
"name": "Congenital Heart Defect",
"disease_group": "Cardiovascular disorders",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS, and contains genes associated with syndromic and non-syndromic congenital heart disease.",
"status": "public",
"version": "0.534",
"version_created": "2026-03-30T13:14:35.719896+11:00",
"relevant_disorders": [
"Abnormal heart morphology HP:0001627"
],
"stats": {
"number_of_genes": 253,
"number_of_strs": 1,
"number_of_regions": 10
},
"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"
},
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
}
],
"child_panel_ids": []
},
{
"id": 3471,
"hash_id": null,
"name": "Congenital hypothyroidism",
"disease_group": "Endocrine disorders",
"disease_sub_group": "Thyroid disorders",
"description": "This panel contains genes associated with congenital hypothyroidism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'congenital hypothyroidism' panel V3.1, with all discrepancies reviewed and resolved (November 2025).",
"status": "public",
"version": "0.120",
"version_created": "2026-04-02T11:51:29.895216+11:00",
"relevant_disorders": [
"Hypothyroidism HP:0000821"
],
"stats": {
"number_of_genes": 63,
"number_of_strs": 1,
"number_of_regions": 1
},
"types": [
{
"name": "Genetic Health Queensland",
"slug": "genetic-health-queensland",
"description": "Panel used by GHQ."
},
{
"name": "Rare Disease",
"slug": "rare-disease",
"description": "Rare disease panels"
},
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
}
],
"child_panel_ids": []
},
{
"id": 3078,
"hash_id": null,
"name": "Congenital Myasthenia",
"disease_group": "Neurology and neurodevelopmental disorders",
"disease_sub_group": "",
"description": "This panel was created by merging the Congenital Myasthenia panels developed by the Royal Melbourne Hospital and by the Victorian Clinical Genetics Services.\r\n\r\nThis panel has been compared against the Genomics England 'Congenital myasthenic syndrome' panel V2.2, with all discrepancies resolved and reciprocal provided to Genomics England.",
"status": "public",
"version": "1.20",
"version_created": "2026-01-02T17:01:50.322172+11:00",
"relevant_disorders": [
"Fatiguable weakness HP:0003473;Hypotonia HP:0001252"
],
"stats": {
"number_of_genes": 37,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
},
{
"name": "Rare Disease",
"slug": "rare-disease",
"description": "Rare disease panels"
},
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
}
],
"child_panel_ids": []
},
{
"id": 3762,
"hash_id": null,
"name": "Congenital nystagmus",
"disease_group": "Ophthalmological disorders",
"disease_sub_group": "",
"description": "This panel contains genes associated with isolated or syndromic nystagmus presenting in infancy or early childhood.",
"status": "public",
"version": "1.24",
"version_created": "2026-01-26T13:26:36.043723+11:00",
"relevant_disorders": [
"Nystagmus HP:0000639"
],
"stats": {
"number_of_genes": 84,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "Rare Disease",
"slug": "rare-disease",
"description": "Rare disease panels"
},
{
"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"
}
],
"child_panel_ids": []
},
{
"id": 3379,
"hash_id": null,
"name": "Congenital ophthalmoplegia",
"disease_group": "Ophthalmological disorders",
"disease_sub_group": "",
"description": "This panel contains genes associated with congenital ophthalmoplegia including those associated with congenital fibrosis of the extra-ocular muscles (CFEOM), Duane anomaly, Moebius syndrome, and gaze palsies.\r\n\r\nIn addition, it includes genes associated with conditions where ophthalmoplegia can occur in infancy/early childhood as a common/prominent feature of a more complex syndromic, metabolic or neuromuscular condition.",
"status": "public",
"version": "1.14",
"version_created": "2025-12-14T20:52:23.588623+11:00",
"relevant_disorders": [
"Abnormality of eye movement",
"HP:0000496"
],
"stats": {
"number_of_genes": 55,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "Rare Disease",
"slug": "rare-disease",
"description": "Rare disease panels"
},
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
}
],
"child_panel_ids": []
},
{
"id": 283,
"hash_id": null,
"name": "Congenital Stationary Night Blindness",
"disease_group": "Ophthalmological disorders",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by RMH and is a consensus panel used by VCGS.\r\n\r\nConsider using the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.",
"status": "public",
"version": "0.24",
"version_created": "2026-01-09T18:46:33.929328+11:00",
"relevant_disorders": [
"Congenital stationary night blindness",
"HP:0007642; Retinal dystrophy",
"HP:0000556"
],
"stats": {
"number_of_genes": 21,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
},
{
"name": "Rare Disease",
"slug": "rare-disease",
"description": "Rare disease panels"
},
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
}
],
"child_panel_ids": []
},
{
"id": 91,
"hash_id": null,
"name": "Corneal Dystrophy",
"disease_group": "Ophthalmological disorders",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe corneal dystrophies are a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea, causing opacification. The corneal dystrophies can be divided into three groups based on the sole or predominant anatomical location of the abnormalities: (a). the anterior corneal dystrophies affect primarily the corneal epithelium and its basement membrane or Bowman layer and the superficial corneal stroma, (b).the stromal corneal dystrophies affect the corneal stroma, (c). the posterior corneal dystrophies affect the Descemet membrane and the corneal endothelium. \r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Corneal Dystrophy' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 27/07/2020.",
"status": "public",
"version": "1.21",
"version_created": "2026-02-22T15:53:37.257206+11:00",
"relevant_disorders": [
"Abnormal corneal morphology",
"HP:0000481"
],
"stats": {
"number_of_genes": 33,
"number_of_strs": 1,
"number_of_regions": 0
},
"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": []
},
{
"id": 93,
"hash_id": null,
"name": "Craniosynostosis",
"disease_group": "Dysmorphic and congenital abnormality syndromes",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS. It is a consensus panel used by RMH. It contains genes that cause isolated craniosynostosis, as well as those that cause complex syndromic or other multi-system disorders where craniosynostosis is a prominent feature.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Craniosynostosis panel and all differences have been resolved, with reciprocal feedback provided to Genomics England 3/7/2020.",
"status": "public",
"version": "1.84",
"version_created": "2026-04-02T18:50:11.631878+11:00",
"relevant_disorders": [
"Craniosynostosis HP:0001363"
],
"stats": {
"number_of_genes": 105,
"number_of_strs": 0,
"number_of_regions": 2
},
"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"
},
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
}
],
"child_panel_ids": []
},
{
"id": 3129,
"hash_id": null,
"name": "Cutis Laxa",
"disease_group": "Dermatological disorders",
"disease_sub_group": "",
"description": "This panel contains genes that cause conditions where cutis laxa is a prominent feature of the condition. This panel is maintained by RMH.",
"status": "public",
"version": "1.0",
"version_created": "2022-10-16T18:04:47.521878+11:00",
"relevant_disorders": [
"Cutis laxa HP:0000973"
],
"stats": {
"number_of_genes": 15,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
},
{
"name": "Rare Disease",
"slug": "rare-disease",
"description": "Rare disease panels"
},
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
}
],
"child_panel_ids": []
},
{
"id": 209,
"hash_id": null,
"name": "Deafness_IsolatedAndComplex",
"disease_group": "Hearing and ear disorders",
"disease_sub_group": "",
"description": "This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).",
"status": "public",
"version": "1.359",
"version_created": "2026-04-03T14:38:51.840380+11:00",
"relevant_disorders": [
"Hearing impairment",
"HP:0000365"
],
"stats": {
"number_of_genes": 348,
"number_of_strs": 1,
"number_of_regions": 2
},
"types": [
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
},
{
"name": "Melbourne Genomics",
"slug": "melbourne-genomics",
"description": "Panel used by a Melbourne Genomics project."
},
{
"name": "Rare Disease",
"slug": "rare-disease",
"description": "Rare disease panels"
},
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
}
],
"child_panel_ids": []
},
{
"id": 231,
"hash_id": null,
"name": "Defects of intrinsic and innate immunity",
"disease_group": "Immunological disorders",
"disease_sub_group": "",
"description": "This panel contains genes that cause defects in intrinsic and innate immunity, including the following:\r\n- Mendelian susceptibility to mycobacterial disease (MSMD)\r\n- Epidermodysplasia verruciformis (HPV)\r\n- Predisposition to severe viral infection\r\n- Herpes simplex encephalitis (HSE)\r\n- Predisposition to mucocutaneous candidiasis\r\n- Other inborn errors of immunity related to non-haematopoietic tissues\r\n- Other inborn errors of immunity related to leukocytes\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).",
"status": "public",
"version": "1.35",
"version_created": "2026-03-25T18:20:57.051027+11:00",
"relevant_disorders": [
"Unusual infections",
"HP:0032101"
],
"stats": {
"number_of_genes": 86,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
},
{
"name": "Melbourne Genomics",
"slug": "melbourne-genomics",
"description": "Panel used by a Melbourne Genomics project."
},
{
"name": "Rare Disease",
"slug": "rare-disease",
"description": "Rare disease panels"
},
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
}
],
"child_panel_ids": []
},
{
"id": 97,
"hash_id": null,
"name": "Desmosomal disorders",
"disease_group": "Dermatological disorders",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS.\r\n\r\nDesmosomal disorders typically affect skin, hair and heart, causing blistering/peeling, alopecia/hypotrichosis and cardiomyopathy.",
"status": "public",
"version": "1.4",
"version_created": "2026-03-24T17:36:11.745191+11:00",
"relevant_disorders": [
"Abnormal blistering of the skin",
"HP:0008066; Alopecia",
"HP:0001596"
],
"stats": {
"number_of_genes": 14,
"number_of_strs": 0,
"number_of_regions": 0
},
"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": []
},
{
"id": 3445,
"hash_id": null,
"name": "Diabetes Insipidus",
"disease_group": "Endocrine disorders; Renal and urinary tract disorders",
"disease_sub_group": "",
"description": "This gene panel contains genetic causes of diabetes insipidus, and was developed by the RMH Endocrine Genetics clinic.",
"status": "public",
"version": "1.4",
"version_created": "2026-02-05T10:57:25.989161+11:00",
"relevant_disorders": [
"Polydipsia",
"HP:0001959; Polyuria",
"HP:0000103"
],
"stats": {
"number_of_genes": 3,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
},
{
"name": "Rare Disease",
"slug": "rare-disease",
"description": "Rare disease panels"
},
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
}
],
"child_panel_ids": []
},
{
"id": 98,
"hash_id": null,
"name": "Diamond Blackfan anaemia",
"disease_group": "Haematological disorders",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS.\r\n\r\nDiamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. Main features are:\r\n-normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow\r\n-growth retardation\r\n-craniofacial, upper limb, heart, and urinary system congenital malformations.\r\n\r\nIncreased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F are typical; however, there is significant variability.\r\n\r\nDBA is caused by variants in the large and small ribosomal protein genes. Deletions are common, and may not be reported as part of some NGS assays.\r\n\r\nPlease also refer to the Bone Marrow Failure, Chromosome Breakage Disorders, and Bleeding and Platelet disorders panels if a broader differential diagnosis is being considered.",
"status": "public",
"version": "1.16",
"version_created": "2026-03-17T20:20:46.699102+11:00",
"relevant_disorders": [
"Anemia",
"HP:0001903; Abnormality of thumb morphology",
"HP:0001172"
],
"stats": {
"number_of_genes": 28,
"number_of_strs": 0,
"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": []
},
{
"id": 99,
"hash_id": null,
"name": "Differences of Sex Development",
"disease_group": "Dysmorphic and congenital abnormality syndromes",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS and contains genes associated with atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.",
"status": "public",
"version": "1.46",
"version_created": "2026-04-02T12:35:34.329595+11:00",
"relevant_disorders": [
"Abnormality of the genital system",
"HP:0000078"
],
"stats": {
"number_of_genes": 141,
"number_of_strs": 1,
"number_of_regions": 2
},
"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"
},
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
},
{
"name": "Genetic Health Queensland",
"slug": "genetic-health-queensland",
"description": "Panel used by GHQ."
}
],
"child_panel_ids": []
},
{
"id": 4368,
"hash_id": null,
"name": "Diffuse Gastric Cancer",
"disease_group": "Cancer Predisposition",
"disease_sub_group": "",
"description": "This panel contains genes associated with diffuse gastric cancer. \r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with diffuse gastric cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).",
"status": "public",
"version": "1.1",
"version_created": "2024-11-01T16:28:14.662725+11:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 2,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "Cancer Germline",
"slug": "cancer-germline",
"description": "Germline cancer panel"
},
{
"name": "Genetic Health Queensland",
"slug": "genetic-health-queensland",
"description": "Panel used by GHQ."
},
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
},
{
"name": "Adult Genetics Unit, Royal Adelaide Hospital",
"slug": "adult-genetics-unit-royal-adelaide-hospital",
"description": "Adult Genetics Unit, Royal Adelaide Hospital"
}
],
"child_panel_ids": []
},
{
"id": 95,
"hash_id": null,
"name": "Dilated Cardiomyopathy",
"disease_group": "Cardiovascular disorders",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes typically associated with isolated dilated cardiomyopathy, with onset in adolescence or adulthood. For early onset dilated cardiomyopathy, or in the presence of additional features suggestive of an underlying metabolic or syndromic disorder please consider the Cardiomyopathy_Paediatric panel. Where the type of cardiomyopathy is unclear, consider using the Cardiomyopathy Superpanel.\r\n\r\nThis panel has been compared against the Genomics England 'Dilated Cardiomyopathy - teen and adult' panel with all discrepancies resolved and reciprocal feedback provided to Genomics England 5/8/2020.\r\n\r\nThe panel is aligned with the assessments of DCM genes by ClinGen, Jordan E et al, 2021, PMID 33947203.",
"status": "public",
"version": "1.66",
"version_created": "2026-04-02T19:34:23.537467+11:00",
"relevant_disorders": [
"Dilated cardiomyopathy",
"HP:0001644"
],
"stats": {
"number_of_genes": 69,
"number_of_strs": 0,
"number_of_regions": 0
},
"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": []
},
{
"id": 229,
"hash_id": null,
"name": "Disorders of immune dysregulation",
"disease_group": "Immunological disorders",
"disease_sub_group": "",
"description": "This panel contains genes that cause diseases of immune dysregulation, including:\r\n- Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)\r\n- FHL Syndromes with Hypopigmentation\r\n- Regulatory T Cell Defects\r\n- Autoimmunity with or without Lymphoproliferation\r\n- Immune Dysregulation with Colitis\r\n- Autoimmune Lymphoproliferative Syndrome (ALPS, Canale Smith syndrome)\r\n- Susceptibility to EBV and Lymphoproliferative Conditions\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).",
"status": "public",
"version": "1.40",
"version_created": "2026-03-27T14:13:44.676217+11:00",
"relevant_disorders": [
"Immune dysregulation",
"HP:0002958"
],
"stats": {
"number_of_genes": 117,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
},
{
"name": "Melbourne Genomics",
"slug": "melbourne-genomics",
"description": "Panel used by a Melbourne Genomics project."
},
{
"name": "Rare Disease",
"slug": "rare-disease",
"description": "Rare disease panels"
},
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
}
],
"child_panel_ids": []
},
{
"id": 332,
"hash_id": null,
"name": "Dyslipidaemia",
"disease_group": "Endocrine disorders; Cardiovascular disorders",
"disease_sub_group": "",
"description": "This panel contains genes that cause dyslipidaemia, abnormal amount of lipids (e.g. triglycerides, cholesterol and/or fat phospholipids). It contains all the genes that cause hyperlipidaemias. It was developed for use by the Royal Melbourne Hospital endocrine genetics clinic.",
"status": "public",
"version": "0.51",
"version_created": "2026-04-03T15:42:30.681985+11:00",
"relevant_disorders": [
"Abnormal circulating lipid concentration",
"HP:0003119"
],
"stats": {
"number_of_genes": 29,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
},
{
"name": "Rare Disease",
"slug": "rare-disease",
"description": "Rare disease panels"
},
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
}
],
"child_panel_ids": []
},
{
"id": 290,
"hash_id": null,
"name": "Dystonia and Chorea",
"disease_group": "Neurology and neurodevelopmental disorders",
"disease_sub_group": "",
"description": "This panel contains genes that cause various types of dystonia and chorea. Including the following:\r\n- Movement disorders where chorea is a prominent feature\r\n- Isolated dystonia is classified as dystonia as the only motor feature except for possible tremor\r\n- Combined dystonia is classified as dystonia with another movement disorder\r\n- Complex dystonia, where dystonia and overlapping hyperkinetic movement disorders (e.g. chorea, myoclonus) co-occur with other neurologic or systemic manifestations, including developmental disability. Dystonia is not necessarily the most prominent disease manifestation and may even be an inconsistent feature.",
"status": "public",
"version": "0.342",
"version_created": "2026-03-31T18:54:31.699745+11:00",
"relevant_disorders": [
"Dystonia",
"HP:0001332; Chorea",
"HP:0002072"
],
"stats": {
"number_of_genes": 198,
"number_of_strs": 9,
"number_of_regions": 0
},
"types": [
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
},
{
"name": "Rare Disease",
"slug": "rare-disease",
"description": "Rare disease panels"
},
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
}
],
"child_panel_ids": []
},
{
"id": 24,
"hash_id": null,
"name": "Early-onset Dementia",
"disease_group": "Neurology and neurodevelopmental disorders",
"disease_sub_group": "",
"description": "This panel contains genes that cause frontotemporal dementia (FTD), Alzheimer's disease, other forms of dementia, and adult-onset cognitive decline. It is currently maintained by VCGS and RMH. The base panel (17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.",
"status": "public",
"version": "1.58",
"version_created": "2026-03-31T16:43:37.497568+11:00",
"relevant_disorders": [
"Cognitive impairment",
"HP:0100543"
],
"stats": {
"number_of_genes": 96,
"number_of_strs": 6,
"number_of_regions": 0
},
"types": [
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
},
{
"name": "Melbourne Genomics",
"slug": "melbourne-genomics",
"description": "Panel used by a Melbourne Genomics project."
},
{
"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": []
},
{
"id": 26,
"hash_id": null,
"name": "Early-onset Parkinson disease",
"disease_group": "Neurology and neurodevelopmental disorders",
"disease_sub_group": "",
"description": "This panel contains genes that cause early-onset Parkinson disease and conditions where parkinsonism is a prominent feature. It is maintained by VCGS and RMH.\r\nThe original panel as of 17/11/2019 was developed and used by the Melbourne Genomics Complex Neurology Flagship.",
"status": "public",
"version": "2.51",
"version_created": "2026-03-30T11:47:22.375379+11:00",
"relevant_disorders": [
"Abnormality of extrapyramidal motor function",
"HP:0002071"
],
"stats": {
"number_of_genes": 129,
"number_of_strs": 14,
"number_of_regions": 0
},
"types": [
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
},
{
"name": "Melbourne Genomics",
"slug": "melbourne-genomics",
"description": "Panel used by a Melbourne Genomics project."
},
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
}
],
"child_panel_ids": []
},
{
"id": 3089,
"hash_id": null,
"name": "Ectodermal Dysplasia",
"disease_group": "Dermatological disorders",
"disease_sub_group": "",
"description": "This panel contains genes that cause heritable conditions in which there are abnormalities of two or more ectodermal structures such as the hair, teeth, nails, sweat glands, salivary glands, cranial-facial structure, digits and other parts of the body.\r\n\r\nThis is a consensus panel used by RMH and VCGS.\r\n\r\nPlease refer to the Hair Disorders panel for disorders primarily affecting hair.",
"status": "public",
"version": "0.110",
"version_created": "2026-03-31T16:43:36.155380+11:00",
"relevant_disorders": [
"Ectodermal dysplasia",
"HP:0000968"
],
"stats": {
"number_of_genes": 61,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
},
{
"name": "Rare Disease",
"slug": "rare-disease",
"description": "Rare disease panels"
},
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
}
],
"child_panel_ids": []
},
{
"id": 4373,
"hash_id": null,
"name": "Endometrial Cancer",
"disease_group": "Cancer Predisposition",
"disease_sub_group": "",
"description": "This panel contains genes associated with endometrial cancer. \r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with endometrial cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).",
"status": "public",
"version": "1.1",
"version_created": "2024-11-01T16:28:51.012692+11:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 10,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "Cancer Germline",
"slug": "cancer-germline",
"description": "Germline cancer panel"
},
{
"name": "Genetic Health Queensland",
"slug": "genetic-health-queensland",
"description": "Panel used by GHQ."
},
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
},
{
"name": "Adult Genetics Unit, Royal Adelaide Hospital",
"slug": "adult-genetics-unit-royal-adelaide-hospital",
"description": "Adult Genetics Unit, Royal Adelaide Hospital"
}
],
"child_panel_ids": []
},
{
"id": 101,
"hash_id": null,
"name": "Epidermolysis bullosa",
"disease_group": "Dermatological disorders",
"disease_sub_group": "",
"description": "This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.",
"status": "public",
"version": "1.27",
"version_created": "2026-03-08T22:19:30.435795+11:00",
"relevant_disorders": [
"Abnormal blistering of the skin",
"HP:0008066"
],
"stats": {
"number_of_genes": 46,
"number_of_strs": 0,
"number_of_regions": 0
},
"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": []
},
{
"id": 43,
"hash_id": null,
"name": "Eye Anterior Segment Abnormalities",
"disease_group": "Ophthalmological disorders",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS.\r\n\r\nAnterior segment dysgeneses are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. Clinical features include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface.\r\n\r\nAnterior segment dysgenesis can occur in isolation or as part of a more complex eye malformation or syndromic disorder. Also consider applying the Anophthalmia_Microphthalmia_Coloboma and Cataracts panels as indicated.",
"status": "public",
"version": "1.20",
"version_created": "2026-02-21T14:46:08.710773+11:00",
"relevant_disorders": [
"Abnormal anterior eye segment morphology",
"HP:0004328"
],
"stats": {
"number_of_genes": 29,
"number_of_strs": 0,
"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": []
},
{
"id": 4093,
"hash_id": null,
"name": "Facial papules",
"disease_group": "Dermatological disorders",
"disease_sub_group": "",
"description": "This panel contains genes associated with diseases where facial papules and lesions can be a predominant feature of the phenotype, including coarse facies. It was developed by Prof Ingrid Winship from Royal Melbourne Hospital for use in the Genodermatosis clinic.",
"status": "public",
"version": "1.1",
"version_created": "2026-01-12T09:37:15.457047+11:00",
"relevant_disorders": [
"Papule HP:0200034"
],
"stats": {
"number_of_genes": 22,
"number_of_strs": 0,
"number_of_regions": 1
},
"types": [
{
"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": []
},
{
"id": 333,
"hash_id": null,
"name": "Familial hypercholesterolaemia",
"disease_group": "Cardiovascular disorders",
"disease_sub_group": "",
"description": "This panel contains genes associated with familial hypercholestrolaemia. Please note MBS funding for familial hypercholestrolaemia covers:\r\nCharacterisation of germline variants causing familial hypercholesterolaemia (which must include the LDLR, PCSK9 and APOB genes), requested by a specialist or consultant physician, for a patient:\r\n(a) for whom no familial mutation has been identified; and\r\n(b) who has any of the following:\r\n· (i) a Dutch Lipid Clinic Network score of at least 6;\r\n· (ii) an LDL-cholesterol level of at least 6.5 mmol/L in the absence of secondary causes;\r\n· (iii) an LDL-cholesterol level of between 5.0 and 6.5 mmol/L with signs of premature or accelerated atherogenesis\r\n\r\nPlease also refer to the Dyslipidaemia panel.",
"status": "public",
"version": "1.0",
"version_created": "2024-12-04T13:37:18.095728+11:00",
"relevant_disorders": [
"Abnormal circulating cholesterol concentration",
"HP:0003107"
],
"stats": {
"number_of_genes": 12,
"number_of_strs": 0,
"number_of_regions": 0
},
"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"
},
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
}
],
"child_panel_ids": []
},
{
"id": 4525,
"hash_id": null,
"name": "Familial hypocalciuric hypercalcaemia",
"disease_group": "Endocrine disorders",
"disease_sub_group": "Calcium disorders",
"description": "This panel contains genes associated with familial hypocalciuric hypercalcaemia. \r\n\r\nIt includes genes from the Genomics England PanelApp 'familial hyperparathyroidism or hypocalciuric hypercalcaemia' panel V3.6.",
"status": "public",
"version": "0.7",
"version_created": "2026-01-29T13:50:01.311095+11:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 3,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [],
"child_panel_ids": []
},
{
"id": 3894,
"hash_id": null,
"name": "Familial hypoparathyroidism",
"disease_group": "Endocrine disorders",
"disease_sub_group": "Calcium disorders",
"description": "This panel contains genes associated with familial hypoparathyroidism. \r\n\r\nIt has been compared against the Genomics England PanelApp 'familial hypoparathyroidism' panel V3.1, with all discrepancies reviewed and resolved (August 2025).",
"status": "public",
"version": "1.13",
"version_created": "2026-01-29T12:46:06.444681+11:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 8,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
},
{
"name": "Rare Disease",
"slug": "rare-disease",
"description": "Rare disease panels"
},
{
"name": "Genetic Health Queensland",
"slug": "genetic-health-queensland",
"description": "Panel used by GHQ."
},
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
}
],
"child_panel_ids": []
},
{
"id": 103,
"hash_id": null,
"name": "Fatty Acid Oxidation Defects",
"disease_group": "Metabolic disorders",
"disease_sub_group": "",
"description": "Fatty acid oxidation disorders (FAODs) are inborn errors of metabolism caused by disruption of either mitochondrial β-oxidation or the fatty acid transport using the carnitine transport pathway. The clinical presentation of a FAOD depends on the specific disorder, but commonly includes cardiomyopathy in the newborn period, liver dysfunction and hypoketotic hypoglycaemia during infancy and childhood, and episodic rhabdomyolysis during or after adolescence.\r\n\r\nThis panel was developed and is maintained by VCGS and is a consensus panel used by RMH.\r\n\r\nIt incorporates assessments by the ClinGen Fatty Acid Oxidation Disorders Working Group, McGlaughon et al 2019, PMID: 31399326.",
"status": "public",
"version": "1.15",
"version_created": "2025-11-20T16:48:15.748218+11:00",
"relevant_disorders": [
"Abnormal circulating fatty acid concentration",
"HP:0004359; Rhabdomyolysis",
"HP:0003201; Hypoglycaemia",
"HP:0001943"
],
"stats": {
"number_of_genes": 33,
"number_of_strs": 0,
"number_of_regions": 0
},
"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": []
},
{
"id": 3763,
"hash_id": null,
"name": "Fetal anomalies",
"disease_group": "",
"disease_sub_group": "",
"description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.",
"status": "public",
"version": "1.556",
"version_created": "2026-04-02T15:01:45.343217+11:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 2206,
"number_of_strs": 3,
"number_of_regions": 5
},
"types": [
{
"name": "Rare Disease",
"slug": "rare-disease",
"description": "Rare disease panels"
},
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
}
],
"child_panel_ids": []
},
{
"id": 3150,
"hash_id": null,
"name": "Foveal Hypoplasia",
"disease_group": "Ophthalmological disorders",
"disease_sub_group": "",
"description": "This panel contains genes that cause isolated foveal hypoplasia without other ocular disorders, such as aniridia, microphthalmia, albinism, or achromatopsia.\r\n\r\nConsider using the Anophthalmia_Microphthalmia_Coloboma, Ocular and Oculocutaneous Albinism, Achromatopsia panels and the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.",
"status": "public",
"version": "0.8",
"version_created": "2023-01-03T16:07:58.595847+11:00",
"relevant_disorders": [
"Abnormal foveal morphology",
"HP:0000493"
],
"stats": {
"number_of_genes": 2,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
},
{
"name": "Rare Disease",
"slug": "rare-disease",
"description": "Rare disease panels"
},
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
}
],
"child_panel_ids": []
},
{
"id": 104,
"hash_id": null,
"name": "Frontonasal dysplasia",
"disease_group": "Dysmorphic and congenital abnormality syndromes",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with frontonasal dysplasia, a craniofacial disorder defined as 2 or more of the following:\r\n(1) true ocular hypertelorism;\r\n(2) broadening of the nasal root;\r\n(3) median facial cleft affecting the nose and/or upper lip and palate;\r\n(4) unilateral or bilateral clefting of the alae nasi;\r\n(5) lack of formation of the nasal tip;\r\n(6) anterior cranium bifidum occultum; and \r\n(7) a V-shaped or widow's peak frontal hairline.",
"status": "public",
"version": "1.3",
"version_created": "2025-10-26T17:18:38.360530+11:00",
"relevant_disorders": [
"Midline defect of the nose",
"HP:0004122; Midline facial cleft",
"HP:0100629; Cranium bifidum occultum",
"HP:0004423"
],
"stats": {
"number_of_genes": 9,
"number_of_strs": 0,
"number_of_regions": 0
},
"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": []
},
{
"id": 3087,
"hash_id": null,
"name": "Gastrointestinal neuromuscular disease",
"disease_group": "Gastroenterological disorders",
"disease_sub_group": "",
"description": "This panel contains genes that cause disorders where intestinal pseudo-obstruction is a prominent feature of the condition.\r\n\r\nIt was previously known as 'Visceral Myopathy', and was developed and is maintained by RMH. It is a consensus panel used by VCGS.\r\n\r\nThis panel has been compared against the Genomics England PanelApp \"Gastrointestinal neuromuscular disorders\" panel V1.15, 31/07/2021, with all discordances resolved and reciprocal feedback provided to Genomics England.",
"status": "public",
"version": "1.26",
"version_created": "2026-03-26T19:32:59.997765+11:00",
"relevant_disorders": [
"Gastrointestinal dysmotility",
"HP:0002579"
],
"stats": {
"number_of_genes": 41,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
},
{
"name": "Rare Disease",
"slug": "rare-disease",
"description": "Rare disease panels"
},
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
}
],
"child_panel_ids": []
},
{
"id": 4369,
"hash_id": null,
"name": "Gastrointestinal Stromal Tumour",
"disease_group": "Cancer Predisposition",
"disease_sub_group": "",
"description": "This panel contains genes associated with gastrointestinal stromal tumour. \r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with gastrointestinal stromal tumour and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).",
"status": "public",
"version": "1.0",
"version_created": "2024-10-09T13:50:01.896692+11:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 8,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "Cancer Germline",
"slug": "cancer-germline",
"description": "Germline cancer panel"
}
],
"child_panel_ids": []
},
{
"id": 202,
"hash_id": null,
"name": "Genetic Epilepsy",
"disease_group": "Neurology and neurodevelopmental disorders",
"disease_sub_group": "",
"description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.",
"status": "public",
"version": "1.408",
"version_created": "2026-04-02T11:46:13.244668+11:00",
"relevant_disorders": [
"Seizure",
"HP:0001250; Epileptic encephalopathy",
"HP:0200134; EEG abnormality",
"HP:0002353"
],
"stats": {
"number_of_genes": 1154,
"number_of_strs": 9,
"number_of_regions": 13
},
"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"
},
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
}
],
"child_panel_ids": []
},
{
"id": 3931,
"hash_id": null,
"name": "Genomic newborn screening: BabyScreen+",
"disease_group": "Screening",
"disease_sub_group": "",
"description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
"status": "public",
"version": "1.148",
"version_created": "2026-03-31T15:17:11.094244+11:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 1723,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [],
"child_panel_ids": []
}
]
}