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{
"count": 261,
"next": "https://panelapp-aus.org/api/v1/panels/?format=api&page=3",
"previous": "https://panelapp-aus.org/api/v1/panels/?format=api",
"results": [
{
"id": 4456,
"hash_id": null,
"name": "Genomic newborn screening: ICoNS",
"disease_group": "Screening",
"disease_sub_group": "",
"description": "UNDER CONSTRUCTION. DO NOT USE.",
"status": "public",
"version": "0.35",
"version_created": "2026-03-13T07:28:16.180055+11:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 20,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [],
"child_panel_ids": []
},
{
"id": 105,
"hash_id": null,
"name": "Glaucoma congenital",
"disease_group": "Ophthalmological disorders",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England 'Glaucoma (developmental)' panel with all discrepancies resolved and reciprocal feedback provided to Genomics England, 7/8/2020.",
"status": "public",
"version": "1.10",
"version_created": "2026-02-19T12:20:03.001407+11:00",
"relevant_disorders": [
"Glaucoma",
"HP:0000501"
],
"stats": {
"number_of_genes": 27,
"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": 106,
"hash_id": null,
"name": "Glycogen Storage Diseases",
"disease_group": "Metabolic disorders",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe glycogen storage diseases (GSDs) are a group of inherited metabolic disorders caused by deficiency of enzymes involved in the production or breakdown of glycogen. \r\n\r\nThe GSDs can be divided into 4 categories:\r\n1). GSDs predominantly affecting the liver and having a direct influence on blood glucose level (types I, VI, and VIII)\r\n2). GSDs predominantly affecting muscle and having a direct influence on muscle function (types V and VII)\r\n3). a GSD affecting liver and muscle and having a direct influence on blood glucose level and muscle function (type III)\r\n4). GSDs affecting liver, muscle, and other tissues and having no direct effect on blood glucose or muscle function (types II and IV).",
"status": "public",
"version": "1.4",
"version_created": "2025-11-21T17:00:56.134684+11:00",
"relevant_disorders": [
"Abnormal hepatic glycogen storage",
"HP:0500030; Abnormal muscle glycogen content",
"HP:0012269; Visceromegaly",
"HP:0003271;Hypoglycemia",
"HP:0001943"
],
"stats": {
"number_of_genes": 29,
"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": 3631,
"hash_id": null,
"name": "Growth failure",
"disease_group": "",
"disease_sub_group": "",
"description": "This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.",
"status": "public",
"version": "1.102",
"version_created": "2026-04-01T10:17:12.005431+11:00",
"relevant_disorders": [
"Failure to thrive",
"HP:0001508; Growth delay",
"HP:0001510"
],
"stats": {
"number_of_genes": 204,
"number_of_strs": 0,
"number_of_regions": 4
},
"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": "Genetic Health Queensland",
"slug": "genetic-health-queensland",
"description": "Panel used by GHQ."
},
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
}
],
"child_panel_ids": []
},
{
"id": 39,
"hash_id": null,
"name": "Haematuria_Alport",
"disease_group": "Renal and urinary tract disorders",
"disease_sub_group": "",
"description": "This panels is intended for use in individuals presenting predominantly with haematuria and/or other features strongly suggestive of Alport syndrome. MBS funding is available for testing of the COL4A3, COL4A4 and COL4A5 genes.\r\n\r\nWhere the clinical presentation is less specific but still strongly suggestive of monogenic glomerular disease, please consider using the broader Renal Glomerular Disease panel.\r\n\r\nThis is a consensus panel used by the KidGen Collaborative, VCGS and RMH. 09/01/2020: This panel has been compared with the Genomics England PanelApp Haematuria panel; no discrepancies were identified.",
"status": "public",
"version": "1.2",
"version_created": "2025-06-05T02:00:04.228914+10:00",
"relevant_disorders": [
"Hematuria",
"HP:0000790; Proteinuria",
"HP:0000093"
],
"stats": {
"number_of_genes": 16,
"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": "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": 3077,
"hash_id": null,
"name": "Haem degradation and bilirubin metabolism defects",
"disease_group": "Metabolic disorders",
"disease_sub_group": "",
"description": "This panel contains genes that cause disorders of tetrapyrroles, including porphyria and disorders of bilirubin metabolism and biliary transport. \r\n\r\nThis panel is part of the Metabolic Disorders Superpanl. It was developed and maintained by RMH, and is a consensus panel used by VCGS.",
"status": "public",
"version": "0.20",
"version_created": "2026-02-22T15:38:52.606788+11:00",
"relevant_disorders": [
"Porphyria",
"MONDO:0037939;Abnormal circulating porphyrin concentration",
"HP:0010472;Hyperbilirubinemia",
"HP:0002904"
],
"stats": {
"number_of_genes": 25,
"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": 3269,
"hash_id": null,
"name": "Hair disorders",
"disease_group": "Dermatological disorders",
"disease_sub_group": "",
"description": "This panel contains genes that cause syndromic and non-syndromic disorders that have hair abnormalities as a prominent feature of the condition. \r\n\r\nThe conditions include: hypotrichosis, hair shaft disorders with/without hair fragility, ectodermal dysplasias, trichorhinophalangeal syndrome, and atrichia with papular lesions.\r\nFor hypertrichosis the Hypertrichosis syndromes gene panel is more suitable.\r\n\r\nThe panel was developed and is maintained by RMH and is a consensus panel used by VCGS.",
"status": "public",
"version": "0.84",
"version_created": "2026-03-30T12:08:41.487037+11:00",
"relevant_disorders": [
"Abnormal hair morphology",
"HP:0001595"
],
"stats": {
"number_of_genes": 60,
"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": 3729,
"hash_id": null,
"name": "Hand and foot malformations",
"disease_group": "Dysmorphic and congenital abnormality syndromes",
"disease_sub_group": "",
"description": "This panel contains non-syndromic and syndromic causes of hand and foot malformations, including: brachydactyly, syndactyly, clinodactyly, ectrodactyly, and oligodactyly. Genes that cause polydactyly and synpolydactyly are excluded and can be found on the Polydactyly panel.",
"status": "public",
"version": "0.85",
"version_created": "2026-03-26T15:53:21.747538+11:00",
"relevant_disorders": [
"Abnormal hand morphology",
"HP:0005922; Abnormal foot morphology",
"HP:0001760"
],
"stats": {
"number_of_genes": 101,
"number_of_strs": 1,
"number_of_regions": 4
},
"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": 226,
"hash_id": null,
"name": "Hereditary angioedema",
"disease_group": "Immunological disorders",
"disease_sub_group": "",
"description": "This 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). It is currently maintained by VCGS.",
"status": "public",
"version": "1.11",
"version_created": "2025-09-09T18:38:39.926214+10:00",
"relevant_disorders": [
"Angioedema",
"HP:0100665"
],
"stats": {
"number_of_genes": 7,
"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"
}
],
"child_panel_ids": []
},
{
"id": 260,
"hash_id": null,
"name": "Hereditary Haemorrhagic Telangiectasia",
"disease_group": "Vascular disorders",
"disease_sub_group": "",
"description": "This panel was developed for use in cases with a clinical diagnosis of hereditary haemorrhagic telangiectasia. It is maintained by Royal Melbourne Hospital. It is a consensus panel used by VCGS.",
"status": "public",
"version": "1.5",
"version_created": "2023-01-03T16:24:41.267305+11:00",
"relevant_disorders": [
"Telangiectasia",
"HP:0001009"
],
"stats": {
"number_of_genes": 6,
"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": 3070,
"hash_id": null,
"name": "Hereditary Neuropathy",
"disease_group": "Neurology and neurodevelopmental disorders",
"disease_sub_group": "",
"description": "This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),",
"status": "public",
"version": "1.190",
"version_created": "2026-03-31T19:04:58.660686+11:00",
"relevant_disorders": [
"Peripheral neuropathy",
"HP:0009830"
],
"stats": {
"number_of_genes": 277,
"number_of_strs": 6,
"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": 4457,
"hash_id": null,
"name": "Hereditary Pigmentary Disorders",
"disease_group": "Dermatological disorders",
"disease_sub_group": "",
"description": "This panel contains genes associated with hereditary pigmentary skin disorders, including the following:\r\nCarney complex\r\nDermatopathia pigmentosa reticularis (including Naegeli-Franceschetti-Jadassohn syndrome)\r\nDowling-Degos disease\r\nDyschromatosis universalis hereditaria\r\nDyschromatosis symmetrica hereditaria\r\nDyskeratosis congenita\r\nFamilial progressive hyper- and hyperpigmentation\r\nIncontinentia pigmenti\r\nPiebaldism\r\nPrimary localised cutaneous amyloidosis\r\nReticulate acropigmentation of Kitamura\r\nWaardenburg syndrome\r\nXeroderma pigmentosum",
"status": "public",
"version": "1.5",
"version_created": "2026-01-02T16:51:24.217185+11:00",
"relevant_disorders": [
"Abnormality of skin pigmentation",
"HP:0001000"
],
"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"
}
],
"child_panel_ids": []
},
{
"id": 317,
"hash_id": null,
"name": "Hereditary Spastic Paraplegia",
"disease_group": "Neurology and neurodevelopmental disorders",
"disease_sub_group": "",
"description": "This panel contains genes that cause both isolated and complicated hereditary spastic paraplegia. The panel was created by merging the HSP panels created by RMH and VCGS, and is a consensus panel used by both.",
"status": "public",
"version": "1.149",
"version_created": "2026-03-19T11:56:36.708923+11:00",
"relevant_disorders": [
"Spasticity",
"HP:0001257"
],
"stats": {
"number_of_genes": 176,
"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": 108,
"hash_id": null,
"name": "Heterotaxy",
"disease_group": "Dysmorphic and congenital abnormality syndromes",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Laterality disorders and isomerism' panel V1.19, with all discrepancies resolved and reciprocal feedback provided to Genomics England.",
"status": "public",
"version": "1.45",
"version_created": "2026-03-17T16:09:39.911604+11:00",
"relevant_disorders": [
"Heterotaxy",
"HP:0030853; Dextrocardia",
"HP:0001651; Asplenia",
"HP:0001746; Abnormal spatial orientation of cardiac segments",
"HP:0011534; Polysplenia",
"HP:0001748;Midline liver",
"HP:0034188"
],
"stats": {
"number_of_genes": 67,
"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": 110,
"hash_id": null,
"name": "Hirschsprung disease",
"disease_group": "Gastroenterological disorders",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS.",
"status": "public",
"version": "0.28",
"version_created": "2026-01-04T18:41:54.183701+11:00",
"relevant_disorders": [
"Aganglionic megacolon",
"HP:0002251"
],
"stats": {
"number_of_genes": 14,
"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": 112,
"hash_id": null,
"name": "Holoprosencephaly and septo-optic dysplasia",
"disease_group": "Neurology and neurodevelopmental disorders",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS.",
"status": "public",
"version": "1.24",
"version_created": "2026-03-03T11:24:20.637349+11:00",
"relevant_disorders": [
"Holoprosencephaly",
"HP:0001360; Septo-optic dysplasia",
"HP:0100842"
],
"stats": {
"number_of_genes": 31,
"number_of_strs": 1,
"number_of_regions": 0
},
"types": [
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
}
],
"child_panel_ids": []
},
{
"id": 242,
"hash_id": null,
"name": "Homologous_recombination_deficiency_WTS_UMCCR",
"disease_group": "Cancer",
"disease_sub_group": "",
"description": "Author: Jacek Marzec, jacek.marzec@unimelb.edu.au\r\n\r\nPurpose: panel of genes involved in homologous recombination DNA damage repair (HR-DDR) deficiency in various cancer types. This set of genes is used in UMCCR WTS report \"HRD genes\" section\r\n\r\nSource: -\r\n\r\nGithub: https://github.com/umccr/RNAsum",
"status": "public",
"version": "0.45",
"version_created": "2025-11-03T15:31:09.278966+11:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 36,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [],
"child_panel_ids": []
},
{
"id": 115,
"hash_id": null,
"name": "Hydrocephalus_Ventriculomegaly",
"disease_group": "Neurology and neurodevelopmental disorders",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England 'Hydrocephalus' panel, with all discrepancies resolved and reciprocal feedback provided to Genomics England, 8/8/2020.",
"status": "public",
"version": "0.134",
"version_created": "2026-01-28T12:49:29.963583+11:00",
"relevant_disorders": [
"Hydrocephalus",
"HP:0000238; Ventriculomegaly",
"HP:0002119"
],
"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": 116,
"hash_id": null,
"name": "Hydrops fetalis",
"disease_group": "Dysmorphic and congenital abnormality syndromes",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared with the Genomics England 100K Genomes Fetal Hydrops panel. All discrepancies have been resolved by George McGillivray and Zornitza Stark (30/12/2019), with reciprocal reviews provided to Genomics England PanelApp.",
"status": "public",
"version": "0.328",
"version_created": "2025-07-08T23:27:02.854141+10:00",
"relevant_disorders": [
"Hydrops fetalis",
"HP:0001789"
],
"stats": {
"number_of_genes": 169,
"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": 3470,
"hash_id": null,
"name": "Hyperammonaemia",
"disease_group": "Metabolic disorders",
"disease_sub_group": "",
"description": "This panel contains genes associated with urea cycle disorders and other metabolic conditions that cause hyperammonaemia.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.",
"status": "public",
"version": "0.10",
"version_created": "2023-03-02T14:41:08.610876+11:00",
"relevant_disorders": [
"Hyperammonaemia",
"HP:0001987"
],
"stats": {
"number_of_genes": 43,
"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": 117,
"hash_id": null,
"name": "Hypercalcaemia",
"disease_group": "Endocrine disorders",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS and RMH. For all disorders associated with abnormalities in calcium metabolism the Calcium and Phosphate disorders panel is recommended.\r\n\r\nWilliams syndrome is a relatively common cause of hypercalcaemia in infants and should be excluded first using chromosomal microarray (CMA).",
"status": "public",
"version": "1.2",
"version_created": "2023-01-03T17:40:50.155481+11:00",
"relevant_disorders": [
"Hypercalcemia",
"HP:0003072"
],
"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": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
}
],
"child_panel_ids": []
},
{
"id": 118,
"hash_id": null,
"name": "Hyperinsulinism",
"disease_group": "Endocrine disorders",
"disease_sub_group": "",
"description": "This panel was developed by and is maintained by VCGS and RMH.\r\n\r\nThis panel contains genes associated with hyperinsulinism (non-syndromic and syndromic). \r\n\r\nIt has been compared against the Genomics England PanelApp 'Congenital hyperinsulinism' panel V3.5, with all discrepancies reviewed and resolved (August 2025).\r\n\r\nFor severe, persistent hypoglycaemia, consider also applying the Metabolic Disorders Superpanel, or more specifically, the Glycogen Storage Diseases and Fatty Acid Oxidation Defects panels.\r\n\r\nIf features of the following diagnoses, request alternate genetic test listed:\r\na) Beckwith-Wiedeman syndrome - request BWS methylation studies\r\nb) Congenital central hypoventilation syndrome - request PHOX2B poly-A expansion repeat testing",
"status": "public",
"version": "1.51",
"version_created": "2026-03-09T16:58:00.909830+11:00",
"relevant_disorders": [
"Hyperinsulinaemia",
"HP:0000842;Hypoglycemia",
"HP:0001943"
],
"stats": {
"number_of_genes": 35,
"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"
},
{
"name": "Genetic Health Queensland",
"slug": "genetic-health-queensland",
"description": "Panel used by GHQ."
}
],
"child_panel_ids": []
},
{
"id": 4526,
"hash_id": null,
"name": "Hyperparathyroidism",
"disease_group": "Endocrine disorders",
"disease_sub_group": "Calcium disorders",
"description": "This panel contains genes associated with primary hyperparathyroidism \r\n(and includes some cancer predisposition disorders). \r\n\r\nIt includes genes from the Genomics England PanelApp 'familial hyperparathyroidism or hypocalciuric hypercalcaemia' panel V3.6.",
"status": "public",
"version": "0.12",
"version_created": "2026-01-30T09:51:01.481999+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": 190,
"hash_id": null,
"name": "Hypertension and Aldosterone disorders",
"disease_group": "Renal and urinary tract disorders; Endocrine disorders",
"disease_sub_group": "",
"description": "This panel contains genes associated with hypertension and aldosterone disorders. \r\n\r\nThis panel was created and is maintained by the KidGen Collaborative. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Extreme early-onset hypertension' panel V1.23, with all discrepancies reviewed and resolved (January 2026).",
"status": "public",
"version": "1.18",
"version_created": "2026-01-08T17:00:09.030229+11:00",
"relevant_disorders": [
"Hypertension",
"HP:0000822; Abnormal circulating aldosterone",
"HP:0040085"
],
"stats": {
"number_of_genes": 24,
"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": "Rare Disease",
"slug": "rare-disease",
"description": "Rare disease panels"
},
{
"name": "Genetic Health Queensland",
"slug": "genetic-health-queensland",
"description": "Panel used by GHQ."
}
],
"child_panel_ids": []
},
{
"id": 3372,
"hash_id": null,
"name": "Hyperthyroidism",
"disease_group": "Endocrine disorders",
"disease_sub_group": "Thyroid disorders",
"description": "This panel contains genes associated with hyperthyroidism. \r\n\r\nIt has been compared against the Genomics England PanelApp 'hyperthyroidism' panel V3.4, with all discrepancies reviewed and resolved (August 2025).",
"status": "public",
"version": "0.25",
"version_created": "2026-02-05T10:59:28.634960+11:00",
"relevant_disorders": [
"Hyperthyroidism HP:0000836"
],
"stats": {
"number_of_genes": 8,
"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"
},
{
"name": "Genetic Health Queensland",
"slug": "genetic-health-queensland",
"description": "Panel used by GHQ."
}
],
"child_panel_ids": []
},
{
"id": 120,
"hash_id": null,
"name": "Hypertrichosis syndromes",
"disease_group": "Dysmorphic and congenital abnormality syndromes",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS.",
"status": "public",
"version": "0.48",
"version_created": "2026-01-14T13:37:51.409228+11:00",
"relevant_disorders": [
"Hypertrichosis",
"HP:0000998"
],
"stats": {
"number_of_genes": 29,
"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": 111,
"hash_id": null,
"name": "Hypertrophic cardiomyopathy",
"disease_group": "Cardiovascular disorders",
"disease_sub_group": "",
"description": "This panel contains genes associated with hypertrophic cardiomyopathy or isolated left ventricular hypertrophy (including sarcomere, sarcomere-associated and syndromic conditions), typically with onset in adolescence or adulthood. For early-onset hypertrophic 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 was developed by VCGS and is maintained by VCGS and RMH. It has been compared against the Genomics England 'Hypertrophic Cardiomyopathy - teen and adult' panel and incorporates gene-disease validity assessments by the ClinGen HCM working group (PMID: 30681346), 5/8/2020 and Hereditary Cardiovascular Disorders Gene Curation Expert Panel (PMID: 39132495).",
"status": "public",
"version": "1.25",
"version_created": "2026-03-11T18:45:28.302854+11:00",
"relevant_disorders": [
"Hypertrophic cardiomyopathy",
"HP:0001639"
],
"stats": {
"number_of_genes": 64,
"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": 4521,
"hash_id": null,
"name": "Hypogonadotropic hypogonadism",
"disease_group": "Endocrine disorders",
"disease_sub_group": "Pituitary disorders",
"description": "This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.",
"status": "public",
"version": "0.111",
"version_created": "2026-04-04T15:37:44.052003+11:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 83,
"number_of_strs": 0,
"number_of_regions": 1
},
"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": 122,
"hash_id": null,
"name": "Hypophosphataemia or rickets",
"disease_group": "Endocrine disorders; Skeletal disorders",
"disease_sub_group": "",
"description": "This panel contains genes associated with hypophosphataemia or rickets. \r\n\r\nIt has been compared against the Genomics England PanelApp 'hypophosphataemia or rickets' panel V4.1, with all discrepancies reviewed and resolved (October 2025).",
"status": "public",
"version": "0.53",
"version_created": "2026-02-05T11:00:41.159014+11:00",
"relevant_disorders": [],
"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": "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."
}
],
"child_panel_ids": []
},
{
"id": 3829,
"hash_id": null,
"name": "IBMDx study",
"disease_group": "",
"disease_sub_group": "",
"description": "The inherited bone marrow diseases (IBMD) are a diverse group of diseases featuring single or multi-lineage cytopaenias and numerous potential associated manifestations including multi-organ syndromic features, a predisposition to haematological malignancy and/or a bleeding phenotype.\r\n\r\nThis panel is appropriate to be used for the following phenotypes of IBMD :\r\n-\tFanconi anaemia (excluding BRCA1, BRCA2, BRIP1 due to their more common association with familial breast cancer risk than FA) \r\n-\tDiamond-Blackfan anaemia\r\n-\tDyskeratosis congenita / telomere biology disorders\r\n-\tShwachman-Diamond syndrome\r\n-\tSevere congenital neutropenia\r\n-\tThrombocytopenia-absent radius syndrome\r\n-\tCongenital amegakaryocytic thrombocytopenia\r\n-\tAdenosine deaminase deficiency\r\n-\tGATA2 deficiency syndrome\r\n-\tSAMD9 / SAMD9L related disorders \r\n-\tCongenital dyserythropoietic anaemia\r\n-\tCongenital sideroblastic anaemia\r\n-\tBernard-Soulier syndrome\r\n\r\nThis panel is being used in the IBMDx study (NCT05196789) – “Diagnosis, discovery and novel phenotype characterisation using multimodal genomics in patients with inherited bone marrow failure and related disorders”\r\n\r\nSome heritable diseases associated with cytopaenias and/or bleeding (for example thalassaemia/haemoglobinopathies and haemophilia) are not assessed with this panel.",
"status": "public",
"version": "0.42",
"version_created": "2026-03-19T18:45:41.236506+11:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 101,
"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": "Research",
"slug": "research",
"description": "Research panels"
}
],
"child_panel_ids": []
},
{
"id": 124,
"hash_id": null,
"name": "Ichthyosis and Porokeratosis",
"disease_group": "Dermatological disorders",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS and RMH. It contains genes that cause non-syndromic and syndromic ichthyosis and porokeratosis.",
"status": "public",
"version": "1.25",
"version_created": "2026-03-19T12:26:58.874178+11:00",
"relevant_disorders": [
"Ichthyosis",
"HP:0008064;Porokeratosis",
"HP:0200044"
],
"stats": {
"number_of_genes": 65,
"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": "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": 243,
"hash_id": null,
"name": "Immune_markers_WTS_UMCCR",
"disease_group": "Cancer",
"disease_sub_group": "",
"description": "Author: Jacek Marzec, jacek.marzec@unimelb.edu.au\r\n\r\nPurpose: panel of immune markers used to assess pre-existing anti-cancer immunity and likelihood of response to immunotherapy. This set of genes is used in UMCCR WTS report \"Immune markers\" section\r\n\r\nSource: https://www.omniseq.com\r\n\r\nGithub: https://github.com/umccr/RNAsum",
"status": "public",
"version": "0.77",
"version_created": "2025-11-03T15:30:48.145923+11:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 71,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [],
"child_panel_ids": []
},
{
"id": 239,
"hash_id": null,
"name": "Immunological disorders_SuperPanel",
"disease_group": "Immunological disorders",
"disease_sub_group": "",
"description": "This is a superpanel of all the International Union of Immunological Societies inborn errors of immunology.",
"status": "promoted",
"version": "15.223",
"version_created": "2026-03-27T14:13:47.593568+11:00",
"relevant_disorders": [
"Abnormality of the immune system",
"HP:0002715"
],
"stats": {
"number_of_genes": 976,
"number_of_strs": 0,
"number_of_regions": 3
},
"types": [
{
"name": "Superpanel",
"slug": "superpanel",
"description": "Superpanel"
},
{
"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": [
238,
223,
56,
233,
229,
231,
235,
4389,
226,
237,
222,
224,
123
]
},
{
"id": 3663,
"hash_id": null,
"name": "Imprinting disorders",
"disease_group": "",
"disease_sub_group": "",
"description": "This panel includes:\r\n-- genes that are subject to imprinting, and where SNVs/CNVs cause disease; and\r\n-- genes associated with the regulation or modification of the imprinting process.",
"status": "public",
"version": "1.9",
"version_created": "2025-11-11T22:13:10.948475+11:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 26,
"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": 126,
"hash_id": null,
"name": "Incidentalome",
"disease_group": "",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with adult-onset cardiac, cancer and neurodegenerative disorders.\r\n\r\nThese genes are excluded from the Mendeliome panel to enable the use of the Mendeliome for panel-agnostic analysis in complex paediatric cases, while minimising the chance of incidental findings related to adult-onset conditions.\r\n\r\nIf analysis of these genes is required, the relevant panel should be requested (e.g. Adult Additional Findings; Neurodegenerative Disease_Adult Onset; Breast Cancer etc).",
"status": "public",
"version": "0.433",
"version_created": "2026-03-25T17:03:27.624542+11:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 161,
"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"
}
],
"child_panel_ids": []
},
{
"id": 3437,
"hash_id": null,
"name": "Incidentalome_PREGEN_DRAFT",
"disease_group": "",
"disease_sub_group": "",
"description": "Imported to facilitate update work. Do not use while labeled as DRAFT",
"status": "public",
"version": "0.43",
"version_created": "2021-01-20T16:42:09.286633+11:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 173,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "New South Wales Health Pathology",
"slug": "new-south-wales-health-pathology",
"description": "New South Wales Health Pathology"
}
],
"child_panel_ids": []
},
{
"id": 4455,
"hash_id": null,
"name": "Infertility and Recurrent Pregnancy Loss",
"disease_group": "",
"disease_sub_group": "",
"description": "Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.",
"status": "public",
"version": "1.137",
"version_created": "2026-03-31T15:48:32.205924+11:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 264,
"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."
}
],
"child_panel_ids": []
},
{
"id": 123,
"hash_id": null,
"name": "Inflammatory bowel disease",
"disease_group": "Gastroenterological disorders",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS.",
"status": "public",
"version": "0.126",
"version_created": "2025-10-16T15:50:33.114198+11:00",
"relevant_disorders": [
"Gastrointestinal inflammation",
"HP:0004386"
],
"stats": {
"number_of_genes": 85,
"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": 250,
"hash_id": null,
"name": "Intellectual disability syndromic and non-syndromic",
"disease_group": "Neurology and neurodevelopmental disorders",
"disease_sub_group": "",
"description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.",
"status": "public",
"version": "1.745",
"version_created": "2026-04-03T15:53:29.044094+11:00",
"relevant_disorders": [
"Intellectual disability",
"HP:0001249; Neurodevelopmental delay",
"HP:0012758"
],
"stats": {
"number_of_genes": 2523,
"number_of_strs": 10,
"number_of_regions": 57
},
"types": [
{
"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": "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": 129,
"hash_id": null,
"name": "Joubert syndrome and other neurological ciliopathies",
"disease_group": "Neurology and neurodevelopmental disorders",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS. It contains genes associated with Joubert syndrome, Meckel Gruber syndrome and other ciliopathies where structural CNS abnormalities are prominent.\r\n\r\nPlease consider also applying the Cerebellar and Pontocerebellar Hypoplasia panel in the presence of more non-specific cerebellar abnormalities and applying the Ciliopathy panel in the presence of additional clinical features suggestive of a multi-system ciliopathy.",
"status": "public",
"version": "1.33",
"version_created": "2025-12-16T12:55:34.757878+11:00",
"relevant_disorders": [
"Molar tooth sign on MRI",
"HP:0002419; Joubert syndrome",
"MONDO:0018772"
],
"stats": {
"number_of_genes": 69,
"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": 134,
"hash_id": null,
"name": "Kabuki syndrome",
"disease_group": "Dysmorphic and congenital abnormality syndromes",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS.",
"status": "public",
"version": "0.17",
"version_created": "2025-11-13T11:58:53.337652+11:00",
"relevant_disorders": [
"Kabuki syndrome",
"MONDO:0016512"
],
"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": 4367,
"hash_id": null,
"name": "Kidney Cancer",
"disease_group": "Cancer Predisposition",
"disease_sub_group": "",
"description": "This panel contains genes associated with kidney cancer. \r\n\r\nFurther information on the testing criteria for kidney cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3889-renal-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 kidney 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": "1.12",
"version_created": "2026-02-21T14:02:42.792697+11:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 14,
"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": 275,
"hash_id": null,
"name": "Kidneyome_SuperPanel",
"disease_group": "Renal and urinary tract disorders",
"disease_sub_group": "",
"description": "This panel was updated in Dec'22 and is maintained by the KidGen Collaborative. It contains genes currently associated with Mendelian renal disease.",
"status": "public",
"version": "11.1",
"version_created": "2026-03-30T10:01:55.333172+11:00",
"relevant_disorders": [
"Abnormality of the kidney",
"HP:0000077"
],
"stats": {
"number_of_genes": 553,
"number_of_strs": 1,
"number_of_regions": 4
},
"types": [
{
"name": "Superpanel",
"slug": "superpanel",
"description": "Superpanel"
},
{
"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"
},
{
"name": "Genetic Health Queensland",
"slug": "genetic-health-queensland",
"description": "Panel used by GHQ."
}
],
"child_panel_ids": [
193,
3993,
190,
199,
39,
191,
194,
211,
144,
63
]
},
{
"id": 298,
"hash_id": null,
"name": "Leukodystrophy",
"disease_group": "Neurology and neurodevelopmental disorders",
"disease_sub_group": "",
"description": "This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.",
"status": "public",
"version": "0.393",
"version_created": "2026-03-26T22:06:36.010882+11:00",
"relevant_disorders": [
"Leukodystrophy",
"HP:0002415; Abnormal cerebral white matter morphology",
"HP:0002500; Abnormal CNS myelination",
"HP:0011400"
],
"stats": {
"number_of_genes": 262,
"number_of_strs": 3,
"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": 3730,
"hash_id": null,
"name": "Limb and Digital Malformations SuperPanel",
"disease_group": "Dysmorphic and congenital abnormality syndromes",
"disease_sub_group": "",
"description": "This is a superpanel containing genes associated with non-syndromic and syndromic limb and digital malformations.",
"status": "public",
"version": "0.124",
"version_created": "2026-03-26T15:53:22.078171+11:00",
"relevant_disorders": [
"Limb abnormality",
"HP:0040064"
],
"stats": {
"number_of_genes": 304,
"number_of_strs": 4,
"number_of_regions": 5
},
"types": [
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
},
{
"name": "Rare Disease",
"slug": "rare-disease",
"description": "Rare disease panels"
},
{
"name": "Superpanel",
"slug": "superpanel",
"description": "Superpanel"
},
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
}
],
"child_panel_ids": [
163,
159,
3729
]
},
{
"id": 3071,
"hash_id": null,
"name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"disease_group": "Neurology and neurodevelopmental disorders",
"disease_sub_group": "",
"description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.",
"status": "public",
"version": "1.65",
"version_created": "2026-01-21T10:59:30.179226+11:00",
"relevant_disorders": [
"Limb-girdle muscular dystrophy",
"MONDO:0016971; Proximal muscle weakness",
"HP:0003701; Distal myopathy MONDO:0018949"
],
"stats": {
"number_of_genes": 102,
"number_of_strs": 10,
"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": 130,
"hash_id": null,
"name": "Lipodystrophy_Lipoatrophy",
"disease_group": "Dysmorphic and congenital abnormality syndromes",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS.\r\n\r\nLipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.\r\n\r\nLipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.",
"status": "public",
"version": "1.42",
"version_created": "2026-02-17T18:29:33.924527+11:00",
"relevant_disorders": [
"Lipodystrophy",
"HP:0009125"
],
"stats": {
"number_of_genes": 39,
"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": 15,
"hash_id": null,
"name": "Lissencephaly and Band Heterotopia",
"disease_group": "Neurology and neurodevelopmental disorders",
"disease_sub_group": "",
"description": "This panel was developed by the Australian Genomics Brain Malformations flagship, and is maintained by VCGS. It is a consensus panel used by RMH.\r\n\r\nIt contains genes associated with deficient neuronal migration and abnormal formation of cerebral convolutions or gyri, either occurring in isolation or as part of a more complex disorder. The spectrum of lissencephaly ranges from absent (agyria) or decreased (pachygyria) convolutions of the cortex to less severe malformation known as subcortical band heterotopia.\r\n\r\nPlease also consider the Cobblestone Malformations panel and the broader Malformations of cortical development superpanel if features are not entirely typical.",
"status": "public",
"version": "1.30",
"version_created": "2026-01-19T11:50:01.984105+11:00",
"relevant_disorders": [
"Lissencephaly HP:0001339;Subcortical band heterotopia HP:0032409"
],
"stats": {
"number_of_genes": 46,
"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": "Australian Genomics",
"slug": "australian-genomics",
"description": "Panel used by Australian 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": 3400,
"hash_id": null,
"name": "Liver Failure_Paediatric",
"disease_group": "Gastroenterological disorders",
"disease_sub_group": "",
"description": "This panel includes primary liver disorders as well as metabolic and other multi-system disorders that have been reported to cause liver failure in children.\r\n\r\nPlease also consider using the Cholestasis panel if clinically indicated.",
"status": "public",
"version": "1.33",
"version_created": "2026-01-08T17:48:33.703909+11:00",
"relevant_disorders": [
"Liver failure",
"HP:0001399"
],
"stats": {
"number_of_genes": 68,
"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": 4191,
"hash_id": null,
"name": "Liverome Superpanel",
"disease_group": "Gastroenterological disorders",
"disease_sub_group": "",
"description": "This panel contains genes associated with liver disease. It was created for use in the Melbourne Genomics Transplant Clinical Change Project.",
"status": "public",
"version": "2.22",
"version_created": "2026-03-26T17:26:27.592089+11:00",
"relevant_disorders": [
"Abnormality of the liver",
"HP:0001392"
],
"stats": {
"number_of_genes": 205,
"number_of_strs": 0,
"number_of_regions": 1
},
"types": [
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
},
{
"name": "Melbourne Genomics",
"slug": "melbourne-genomics",
"description": "Panel used by a Melbourne Genomics project."
},
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
}
],
"child_panel_ids": [
3400,
78,
3274,
3077
]
},
{
"id": 131,
"hash_id": null,
"name": "Long QT Syndrome",
"disease_group": "Cardiovascular disorders",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS. It has been compared against the ClinGen Long QT working group and the Genomics England PanelApp Long QT panel gene-disease associations, with all differences reconciled, with thanks to Ivan Macciocca.",
"status": "public",
"version": "0.63",
"version_created": "2026-02-06T09:22:25.758996+11:00",
"relevant_disorders": [
"Prolonged QT interval",
"HP:0001657"
],
"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"
}
],
"child_panel_ids": []
},
{
"id": 3098,
"hash_id": null,
"name": "Lymphoedema",
"disease_group": "Cardiovascular disorders",
"disease_sub_group": "Lymphatic Disorders",
"description": "The panel contains genes associated with nonsyndromic and syndromic lymphoedema.",
"status": "public",
"version": "0.32",
"version_created": "2026-02-06T22:04:55.315713+11:00",
"relevant_disorders": [
"Lymphedema",
"HP:0001004"
],
"stats": {
"number_of_genes": 59,
"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": 181,
"hash_id": null,
"name": "Lysosomal Storage Disorder",
"disease_group": "Metabolic conditions",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe lysosomal storage diseases are a group of progressive metabolic disorders that are caused by enzyme deficiencies within the lysosome. The abnormal storage process leads to a broad spectrum of somatic and/or neurological clinical manifestations depending on the specific substrate and site of accumulation. Examples include the mucopolysaccharidoses, mucolipidoses, oligosaccharidoses, Pompe disease, Gaucher disease, Fabry disease, the Niemann-Pick disorders, and neuronal ceroid lipofuscinoses.\r\n\r\nIf the clinical presentation is not specific for a lysosomal storage disorder, please consider the broader Metabolic Disorders Superpanel.",
"status": "public",
"version": "1.31",
"version_created": "2026-03-31T16:05:25.488597+11:00",
"relevant_disorders": [
"Lysosomal storage disorder",
"MONDO:0002561; Visceromegaly",
"HP:0003271"
],
"stats": {
"number_of_genes": 80,
"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": 3139,
"hash_id": null,
"name": "Mackenzie's Mission_Reproductive Carrier Screening",
"disease_group": "Screening",
"disease_sub_group": "",
"description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.",
"status": "public",
"version": "0.111",
"version_created": "2025-11-21T16:50:54.555702+11:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 1335,
"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": "New South Wales Health Pathology",
"slug": "new-south-wales-health-pathology",
"description": "New South Wales Health Pathology"
},
{
"name": "PathWest",
"slug": "pathwest",
"description": "PathWest"
}
],
"child_panel_ids": []
},
{
"id": 135,
"hash_id": null,
"name": "Macrocephaly_Megalencephaly",
"disease_group": "Dysmorphic and congenital abnormality syndromes",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS.",
"status": "public",
"version": "0.161",
"version_created": "2026-01-12T09:38:37.890372+11:00",
"relevant_disorders": [
"Macrocephaly",
"HP:0000256; Megalencephaly",
"HP:0001355"
],
"stats": {
"number_of_genes": 151,
"number_of_strs": 0,
"number_of_regions": 3
},
"types": [
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
}
],
"child_panel_ids": []
},
{
"id": 303,
"hash_id": null,
"name": "Macular Dystrophy/Stargardt Disease",
"disease_group": "Ophthalmological disorders",
"disease_sub_group": "",
"description": "This panel contains genes that cause macular dystrophy and Stargardt disease. It is maintained by the Royal Melbourne Hospital for use in the ocular genetics clinic. It 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": "0.60",
"version_created": "2026-03-31T16:05:02.510211+11:00",
"relevant_disorders": [
"Macular dystrophy",
"HP:0007754"
],
"stats": {
"number_of_genes": 39,
"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": 3136,
"hash_id": null,
"name": "Malformations of cortical development_Superpanel",
"disease_group": "Neurology and neurodevelopmental disorders",
"disease_sub_group": "",
"description": "Superpanel for malformations of cortical development, excluding the primary microcephaly genes which are on the Microcephaly panel.",
"status": "public",
"version": "4.88",
"version_created": "2026-01-19T11:50:02.241226+11:00",
"relevant_disorders": [
"Abnormal cerebral cortex morphology",
"HP:0002538"
],
"stats": {
"number_of_genes": 180,
"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"
},
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
},
{
"name": "Superpanel",
"slug": "superpanel",
"description": "Superpanel"
}
],
"child_panel_ids": [
15,
19,
21,
6,
18,
20
]
},
{
"id": 3378,
"hash_id": null,
"name": "Malignant Hyperthermia Susceptibility",
"disease_group": "Neurology and neurodevelopmental disorders",
"disease_sub_group": "",
"description": "This panel contains genes that are established causes of malignant hyperthermia susceptibility (MHS). It can be used when the clinical and laboratory findings suggest a diagnosis of MHS, such as a positive muscle biopsy contracture test or positive family history. This panel is used by the Royal Melbourne Hospital.\r\n\r\nThe Skeletal Muscle Channelopathies, Rhabdomyolysis, or Myopathy panels may considered where the clinical presentation is less clearly indicative of malignant hyperthermia.",
"status": "public",
"version": "1.8",
"version_created": "2024-05-10T10:03:11.680206+10:00",
"relevant_disorders": [
"Malignant hyperthermia",
"HP:0002047; Rhabdomyolysis",
"HP:0003201"
],
"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"
},
{
"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": 136,
"hash_id": null,
"name": "Mandibulofacial Acrofacial dysostosis",
"disease_group": "Dysmorphic and congenital abnormality syndromes",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS.\r\n\r\nThis panel contains genes associated with the facial dysostoses, which can be subdivided into mandibulofacial dysostoses, which present with craniofacial defects only, and acrofacial dysostoses, which encompass both craniofacial and limb anomalies. Facial dysostoses arise as a consequence of abnormal development of the first and second pharyngeal arches and their derivatives, including the upper and lower jaw and their hyoid support structures.",
"status": "public",
"version": "1.22",
"version_created": "2026-03-25T17:21:58.910310+11:00",
"relevant_disorders": [
"Craniofacial dysostosis",
"HP:0004439"
],
"stats": {
"number_of_genes": 35,
"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": 3280,
"hash_id": null,
"name": "Medulloblastoma",
"disease_group": "Cancer Predisposition",
"disease_sub_group": "",
"description": "This panel contains genes associated with medulloblastoma. \r\n\r\nFurther information on the testing criteria for medulloblastoma can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/paediatric/genetic-testing-using-cancer-gene-panels/3654-medulloblastoma-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 medulloblastoma 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\n\r\nThis panel was developed by the Adult Genetics Unit, Royal Adelaide Hospital and SA Pathology. This panel has been updated under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).",
"status": "public",
"version": "1.1",
"version_created": "2024-11-01T16:31:30.977610+11:00",
"relevant_disorders": [
"Medulloblastoma",
"HP:0002885"
],
"stats": {
"number_of_genes": 12,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "Cancer Germline",
"slug": "cancer-germline",
"description": "Germline cancer panel"
},
{
"name": "SA Pathology",
"slug": "sa-pathology",
"description": "SA Pathology"
},
{
"name": "Adult Genetics Unit, Royal Adelaide Hospital",
"slug": "adult-genetics-unit-royal-adelaide-hospital",
"description": "Adult Genetics Unit, Royal Adelaide Hospital"
},
{
"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": 3279,
"hash_id": null,
"name": "Melanoma",
"disease_group": "Cancer Predisposition",
"disease_sub_group": "",
"description": "This panel contains genes associated with melanoma. \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 melanoma 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 was previously developed by the Adult Genetics Unit, Royal Adelaide Hospital and SA Pathology. The panel has been updated under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).",
"status": "public",
"version": "1.1",
"version_created": "2024-11-01T16:32:48.260830+11:00",
"relevant_disorders": [
"Melanoma",
"HP:0002861"
],
"stats": {
"number_of_genes": 4,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "Cancer Germline",
"slug": "cancer-germline",
"description": "Germline cancer panel"
},
{
"name": "SA Pathology",
"slug": "sa-pathology",
"description": "SA Pathology"
},
{
"name": "Adult Genetics Unit, Royal Adelaide Hospital",
"slug": "adult-genetics-unit-royal-adelaide-hospital",
"description": "Adult Genetics Unit, Royal Adelaide Hospital"
},
{
"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": 137,
"hash_id": null,
"name": "Mendeliome",
"disease_group": "",
"disease_sub_group": "",
"description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.",
"status": "public",
"version": "1.4716",
"version_created": "2026-04-04T15:36:29.134157+11:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 6012,
"number_of_strs": 43,
"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": 4356,
"hash_id": null,
"name": "Meningioma",
"disease_group": "Cancer predisposition",
"disease_sub_group": "",
"description": "This panel contains genes associated with meningioma. \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 meningioma 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": "2024-11-01T16:29:51.451022+11:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 5,
"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": 3465,
"hash_id": null,
"name": "Metabolic Disorders Superpanel",
"disease_group": "Metabolic disorders",
"disease_sub_group": "",
"description": "This superpanel combines existing metabolic disease panels.",
"status": "public",
"version": "9.120",
"version_created": "2026-04-03T15:42:32.325162+11:00",
"relevant_disorders": [
"Abnormality of metabolism/homeostasis",
"HP:0001939"
],
"stats": {
"number_of_genes": 1439,
"number_of_strs": 4,
"number_of_regions": 4
},
"types": [
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
},
{
"name": "Rare Disease",
"slug": "rare-disease",
"description": "Rare disease panels"
},
{
"name": "Superpanel",
"slug": "superpanel",
"description": "Superpanel"
},
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
}
],
"child_panel_ids": [
3929,
68,
3468,
181,
203,
103,
145,
4257,
106,
3093,
155,
3469,
332,
3077,
3470,
4294
]
},
{
"id": 3469,
"hash_id": null,
"name": "Metal Metabolism Disorders",
"disease_group": "Metabolic disorders",
"disease_sub_group": "",
"description": "This panel contains genes that cause inborn errors of molybdenum, copper, iron, manganese, zinc, selenium, and magnesium metabolism. \r\nThis panel was based on the Genomics England/NHS Genomics Medicine Service 'Iron metabolism disorders' panel. It is part of the Metabolic Disorders Superpanel.",
"status": "public",
"version": "0.54",
"version_created": "2026-02-17T14:35:14.331246+11:00",
"relevant_disorders": [
"Abnormality of iron homeostasis",
"HP:0011031;Abnormal blood transition element cation concentration",
"HP:0011030"
],
"stats": {
"number_of_genes": 51,
"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": 138,
"hash_id": null,
"name": "Microcephaly",
"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 primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.",
"status": "public",
"version": "1.427",
"version_created": "2026-04-02T17:28:09.565635+11:00",
"relevant_disorders": [
"Microcephaly",
"HP:0000252"
],
"stats": {
"number_of_genes": 383,
"number_of_strs": 0,
"number_of_regions": 8
},
"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": 3696,
"hash_id": null,
"name": "Mirror movements",
"disease_group": "Neurology and neurodevelopmental disorders",
"disease_sub_group": "",
"description": "This panel contains genes that cause isolated congenital mirror movements. It does not contain genes associated with mirror movements as a component of a syndromic phenotype.",
"status": "public",
"version": "1.1",
"version_created": "2025-10-29T11:42:53.240643+11:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 5,
"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"
}
],
"child_panel_ids": []
},
{
"id": 3468,
"hash_id": null,
"name": "Miscellaneous Metabolic Disorders",
"disease_group": "Metabolic disorders",
"disease_sub_group": "",
"description": "This panel contains genes that cause miscellaneous metabolic disorders, that are not present on any of the more specific metabolic disorders panels (see the Metabolic Disorders Superpanel for the full list of panels). It contains, but is not limited to, the following groups of conditions:\r\n-Disorders of purine and pyrimidine metabolism\r\n-Organic acidurias, and other disorders of amino acid and peptide metabolism\r\n-Disorders of bile acid metabolism and transport, and other disorders of the metabolism of sterols\r\n-Disorders of nucleotide metabolism\r\n-Disorders of glucose transport, and other disorders of carbohydrate metabolism (excluding glycogen storage disorders)\r\n-Disorders of zinc and manganese metabolism\r\n-Disorders of vitamins and cofactors\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.",
"status": "public",
"version": "1.60",
"version_created": "2026-01-15T15:39:27.439934+11:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 149,
"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": 203,
"hash_id": null,
"name": "Mitochondrial disease",
"disease_group": "Metabolic disorders",
"disease_sub_group": "",
"description": "This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.",
"status": "public",
"version": "1.16",
"version_created": "2026-03-13T18:22:35.610861+11:00",
"relevant_disorders": [
"Increased serum lactate",
"HP:0002151; Abnormality of mitochondrial metabolism",
"HP:0003287"
],
"stats": {
"number_of_genes": 437,
"number_of_strs": 1,
"number_of_regions": 1
},
"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": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
}
],
"child_panel_ids": []
},
{
"id": 3093,
"hash_id": null,
"name": "Monogenic Diabetes",
"disease_group": "Endocrine disorders",
"disease_sub_group": "",
"description": "This panel contains genes associated with monogenic diabetes, including: \r\n-familial diabetes\r\n-neonatal diabetes\r\n-maturity onset diabetes of the young\r\n-insulin resistance (including lipodystrophy)\r\n\r\nIt has been compared against the following Genomics England PanelApp panels with all discrepancies reviewed and resolved (February 2026) : monogenic diabetes (V3.8), familial diabetes (V1.68), neonatal diabetes (V5.14), multi-organ autoimmune diabetes (V1.12), diabetes with additional phenotypes suggestive of a monogenic aetiology (V1.68), and insulin resistance (including lipodystrophy)(V1.18). \r\n\r\nFor a high suspicion of a mitochondrial DNA disorder: \r\nrequest a specific assay for mitochondrially encoded genes (such as mitochondrial genome sequencing or whole genome sequencing).",
"status": "public",
"version": "0.222",
"version_created": "2026-04-01T16:48:42.206624+11:00",
"relevant_disorders": [
"Diabetes mellitus",
"HP:0000819"
],
"stats": {
"number_of_genes": 109,
"number_of_strs": 0,
"number_of_regions": 2
},
"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"
},
{
"name": "Genetic Health Queensland",
"slug": "genetic-health-queensland",
"description": "Panel used by GHQ."
}
],
"child_panel_ids": []
},
{
"id": 3472,
"hash_id": null,
"name": "Mosaic skin disorders",
"disease_group": "Dermatological disorders",
"disease_sub_group": "",
"description": "This panel contains genes that cause skin disorders as a result of somatic mutations and is suitable for use when affected tissue is being tested.\r\n\r\nPlease also refer to the Vascular Malformations_Somatic and Vascular Malformations_Germline panels for genes associated predominantly with vascular malformations of the skin.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.",
"status": "public",
"version": "1.15",
"version_created": "2025-11-28T10:17:48.863556+11:00",
"relevant_disorders": [
"Abnormality of skin pigmentation",
"HP:0001000"
],
"stats": {
"number_of_genes": 44,
"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": "Tasmanian Clinical Genetics Service",
"slug": "tasmanian-clinical-genetics-service",
"description": "Tasmanian Clinical Genetics Service"
},
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
}
],
"child_panel_ids": []
},
{
"id": 25,
"hash_id": null,
"name": "Motor Neurone Disease",
"disease_group": "Neurology and neurodevelopmental disorders",
"disease_sub_group": "",
"description": "This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.",
"status": "public",
"version": "1.48",
"version_created": "2026-03-31T16:37:58.241144+11:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 79,
"number_of_strs": 4,
"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": 3531,
"hash_id": null,
"name": "Movement Disorders Superpanel",
"disease_group": "Neurology and neurodevelopmental disorders",
"disease_sub_group": "",
"description": "Superpanel containing movement disorder gene panels.",
"status": "public",
"version": "3.199",
"version_created": "2026-04-02T15:02:24.996337+11:00",
"relevant_disorders": [
"Tremor HP:0001337"
],
"stats": {
"number_of_genes": 731,
"number_of_strs": 44,
"number_of_regions": 2
},
"types": [
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
},
{
"name": "Superpanel",
"slug": "superpanel",
"description": "Superpanel"
},
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
}
],
"child_panel_ids": [
26,
271,
74,
290,
259
]
},
{
"id": 139,
"hash_id": null,
"name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"disease_group": "Dysmorphic and congenital abnormality syndromes",
"disease_sub_group": "",
"description": "This panel contains genes associated with severe perinatal disorders presenting with joint contractures, webbing and reduced fetal movements in particular those associated with:\r\n-fetal akinesia deformation sequence (FADS);\r\n-multiple pterygium syndromes;\r\n-lethal congenital contractures syndromes.\r\n\r\nPlease also consider a broader range of neurological conditions covered by the Congenital Myasthenia, Myopathy - paediatric onset, Arthrogryposis and Neuropathy panels, as well as the Intellectual disability panel.",
"status": "public",
"version": "1.11",
"version_created": "2026-02-25T14:53:33.284450+11:00",
"relevant_disorders": [
"Pterygium",
"HP:0001059; Akinesia",
"HP:0002304; Fetal akinesia sequence",
"HP:0001989"
],
"stats": {
"number_of_genes": 28,
"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": 141,
"hash_id": null,
"name": "Muscular dystrophy and myopathy_Paediatric",
"disease_group": "Neurology and neurodevelopmental disorders",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS and RMH.\r\n\r\nIt contains genes typically associated with congenital muscular dystrophies and myopathies, which are characterised by weakness at birth, muscle biopsy showing dystrophic or myopathic changes, raised CK, and sometimes structural brain abnormalities. It also contains some genes that cause disorders with overlapping clinical features.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.",
"status": "public",
"version": "1.122",
"version_created": "2026-04-02T11:45:25.115390+11:00",
"relevant_disorders": [
"Muscular dystrophy",
"HP:0003560; Elevated circulating creatine kinase concentration",
"HP:0003236; Myopathy",
"HP:0003198"
],
"stats": {
"number_of_genes": 146,
"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": 3101,
"hash_id": null,
"name": "Myopathy Superpanel",
"disease_group": "Neurology and neurodevelopmental disorders",
"disease_sub_group": "",
"description": "Inherited myopathies superpanel.",
"status": "public",
"version": "4.254",
"version_created": "2026-04-02T11:45:37.936997+11:00",
"relevant_disorders": [
"Myopathy",
"HP:0003198; Muscle weakness",
"HP:0001324"
],
"stats": {
"number_of_genes": 392,
"number_of_strs": 12,
"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."
},
{
"name": "Superpanel",
"slug": "superpanel",
"description": "Superpanel"
}
],
"child_panel_ids": [
141,
3071,
3084,
3378,
302
]
},
{
"id": 4361,
"hash_id": null,
"name": "Neuroblastoma",
"disease_group": "Cancer Predisposition",
"disease_sub_group": "",
"description": "This panel contains genes associated with neuroblastoma. \r\n\r\nFurther information on the testing criteria for neuroblastoma can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/paediatric/genetic-testing-using-cancer-gene-panels/3734-neuroblastoma-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 neuroblastoma 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": "2024-11-01T16:30:20.596726+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": 3438,
"hash_id": null,
"name": "Neurodegeneration with brain iron accumulation",
"disease_group": "Neurology and neurodevelopmental disorders",
"disease_sub_group": "",
"description": "This panel contains genes that are associated with neurodegeneration with brain iron accumulation (NBIA) disorders. Depending on the clinical features present, consider applying additional panels such as the Dystonia Superpanel or Mitochondrial Disorders, which contain overlapping differential diagnoses.",
"status": "public",
"version": "1.3",
"version_created": "2025-11-25T11:21:32.539811+11:00",
"relevant_disorders": [
"Iron accumulation in brain",
"HP:0012675"
],
"stats": {
"number_of_genes": 24,
"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": 3374,
"hash_id": null,
"name": "Neurodegenerative disease - adult onset",
"disease_group": "Neurology and neurodevelopmental disorders",
"disease_sub_group": "",
"description": "This is a superpanel containing genes that cause adult onset neurodegenerative disease.",
"status": "public",
"version": "6.219",
"version_created": "2026-04-02T15:02:26.091296+11:00",
"relevant_disorders": [
"Neurodegeneration",
"HP:0002180"
],
"stats": {
"number_of_genes": 808,
"number_of_strs": 46,
"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": "Superpanel",
"slug": "superpanel",
"description": "Superpanel"
},
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
}
],
"child_panel_ids": [
26,
271,
317,
24,
25
]
},
{
"id": 4092,
"hash_id": null,
"name": "Neuromuscular Superpanel",
"disease_group": "Neurology and neurodevelopmental disorders",
"disease_sub_group": "",
"description": "This is a broad superpanel of genes associated with neuromuscular conditions.",
"status": "public",
"version": "4.427",
"version_created": "2026-04-02T19:32:38.349378+11:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 1564,
"number_of_strs": 44,
"number_of_regions": 4
},
"types": [
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
},
{
"name": "Superpanel",
"slug": "superpanel",
"description": "Superpanel"
},
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
}
],
"child_panel_ids": [
271,
3070,
317,
141,
3071,
25,
3084,
3087,
3078,
47,
302
]
},
{
"id": 145,
"hash_id": null,
"name": "Neurotransmitter Defects",
"disease_group": "Neurology and neurodevelopmental disorders",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe panel contains genes associated with neurotransmitter disorders, a heterogeneous group of disorders involving defects in the metabolism of monoamines (dopamine, norepinephrine, epinephrine and serotonin), GABA and glycine. The clinical presentations were highly variable, and may include seizures, neurodevelopmental delay, movement disorders, gait abnormalities, hypotonia, autonomic features. Measurement of neurotransmitter metabolites in cerebral spinal fluid (CSF) may be helpful in delineating the metabolic defects.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Neurotransmitter disorders' panel V1.6 with all discrepancies resolved and reciprocal feedback provided to Genomics England.",
"status": "public",
"version": "1.8",
"version_created": "2026-01-09T20:59:22.980216+11:00",
"relevant_disorders": [
"Abnormal CSF metabolite concentration",
"HP:0025454"
],
"stats": {
"number_of_genes": 41,
"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": 4294,
"hash_id": null,
"name": "Nucleotide metabolism disorders",
"disease_group": "Metabolic disorders",
"disease_sub_group": "",
"description": "This panel contains genes that cause inborn errors of purine, pyrimidine, and nucleic acid metabolism.\r\n\r\nIt is a component of the Metabolic Disorders Superpanel.",
"status": "public",
"version": "0.8",
"version_created": "2025-05-08T15:56:43.556103+10:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 44,
"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"
}
],
"child_panel_ids": []
},
{
"id": 37,
"hash_id": null,
"name": "Ocular and Oculocutaneous Albinism",
"disease_group": "Ophthalmological disorders",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS.",
"status": "public",
"version": "1.16",
"version_created": "2026-03-27T19:38:01.497264+11:00",
"relevant_disorders": [
"Albinism HP:0001022; Ocular albinism",
"HP:0001107"
],
"stats": {
"number_of_genes": 24,
"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": 148,
"hash_id": null,
"name": "Oligodontia",
"disease_group": "Dysmorphic and congenital abnormality syndromes",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS.",
"status": "public",
"version": "0.33",
"version_created": "2026-02-21T15:35:59.668194+11:00",
"relevant_disorders": [
"Abnormal number of teeth HP:0006483"
],
"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"
},
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
}
],
"child_panel_ids": []
},
{
"id": 149,
"hash_id": null,
"name": "Optic Atrophy",
"disease_group": "Ophthalmological disorders",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS and RMH and contains genes associated with isolated and complex optic atrophy.",
"status": "public",
"version": "1.72",
"version_created": "2026-03-31T18:57:17.873049+11:00",
"relevant_disorders": [
"Optic atrophy",
"HP:0000648"
],
"stats": {
"number_of_genes": 80,
"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": 147,
"hash_id": null,
"name": "Osteogenesis Imperfecta and Osteoporosis",
"disease_group": "Skeletal disorders; Endocrine disorders",
"disease_sub_group": "",
"description": "This panel contains genes associated with osteogenesis imperfecta and osteoporosis. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Osteogenesis imperfecta' panel V5.1, with all discrepancies reviewed and resolved (November 2025).",
"status": "public",
"version": "1.18",
"version_created": "2026-02-22T14:59:29.563350+11:00",
"relevant_disorders": [
"Increased susceptibility to fractures",
"HP:0002659"
],
"stats": {
"number_of_genes": 48,
"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": 150,
"hash_id": null,
"name": "Osteopetrosis",
"disease_group": "Skeletal disorders",
"disease_sub_group": "",
"description": "This panel contains genes associated with osteopetrosis, a group of hereditary metabolic bone diseases, all of which detrimentally affect bone growth and remodelling leading to generalized osteosclerosis.\r\n\r\nThe panel includes skeletal dysplasias and syndromic disorders associated with bone sclerosis that can overlap with the clinical presentation of classical osteopetrosis.\r\n\r\nThis panel was developed and is maintained by VCGS. It has been compared against the Genomics England PanelApp 'osteopetrosis' panel V1.35, with all discrepancies reviewed and resolved (August 2025).\r\n\r\nUpdated following literature review December 2025.",
"status": "public",
"version": "1.0",
"version_created": "2025-12-22T12:45:57.007049+11:00",
"relevant_disorders": [
"Increased bone mineral density",
"HP:0011001"
],
"stats": {
"number_of_genes": 37,
"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": "Genetic Health Queensland",
"slug": "genetic-health-queensland",
"description": "Panel used by GHQ."
}
],
"child_panel_ids": []
},
{
"id": 4374,
"hash_id": null,
"name": "Ovarian Cancer",
"disease_group": "Cancer Predisposition",
"disease_sub_group": "",
"description": "This panel contains genes associated with ovarian cancer. \r\n\r\nFurther information on the testing criteria for ovarian cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3783-ovarian-cancer-epithelial-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 ovarian 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": "1.6",
"version_created": "2025-11-20T12:29:37.870224+11:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 17,
"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": 151,
"hash_id": null,
"name": "Overgrowth",
"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 generalised overgrowth of prenatal or postnatal onset. Generalised overgrowth is characterised by a relatively proportionate increase in stature (length or height) and/or head circumference at least two standard deviations above the mean compared to the age‐related peer group. This panel does not contain genes causing segmental overgrowth.\r\n\r\nChromosomal testing/methylation studies are recommended prior to sequencing for the diagnosis of Beckwith-Wiedemann syndrome.\r\n\r\nPlease also refer to the Macrocephaly panel if head growth is primarily or disproportionately affected.",
"status": "public",
"version": "1.21",
"version_created": "2026-04-01T17:27:51.801810+11:00",
"relevant_disorders": [
"Overgrowth",
"HP:0001548; Tall stature",
"HP:0000098; Increased body weight",
"HP:0004324"
],
"stats": {
"number_of_genes": 31,
"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": 3126,
"hash_id": null,
"name": "Pain syndromes",
"disease_group": "Neurology and neurodevelopmental disorders",
"disease_sub_group": "",
"description": "Mendelian disorders of pain perception, including insensitivity to pain or increased pain perception, with thanks to Genomics England PanelApp.",
"status": "public",
"version": "0.38",
"version_created": "2026-02-22T15:47:27.675595+11:00",
"relevant_disorders": [
"Pain",
"HP:0012531"
],
"stats": {
"number_of_genes": 31,
"number_of_strs": 1,
"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": 153,
"hash_id": null,
"name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"disease_group": "Dermatological disorders",
"disease_sub_group": "",
"description": "This panel was developed by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp Palmoplantar Keratoderma panel, and all discrepancies have been reviewed and resolved by VCGS and GHQ.",
"status": "public",
"version": "0.144",
"version_created": "2026-03-08T22:20:02.332483+11:00",
"relevant_disorders": [
"Palmoplantar keratoderma",
"HP:0000982; Erythrokeratoderma",
"MONDO:0019270"
],
"stats": {
"number_of_genes": 73,
"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"
},
{
"name": "Genetic Health Queensland",
"slug": "genetic-health-queensland",
"description": "Panel used by GHQ."
}
],
"child_panel_ids": []
},
{
"id": 4370,
"hash_id": null,
"name": "Pancreatic Cancer",
"disease_group": "Cancer Predisposition",
"disease_sub_group": "",
"description": "This panel contains genes associated with pancreatic cancer. \r\n\r\nFurther information on the testing criteria for pancreatic cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3906-pancreatic-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 pancreatic 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": "2024-11-01T16:32:06.575750+11:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 12,
"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": 154,
"hash_id": null,
"name": "Pancreatitis",
"disease_group": "Gastroenterological disorders",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS and contains genes associated with hereditary pancreatitis. The aetiology of recurrent acute and chronic pancreatitis is often multifactorial, and common variants in several genes have been implicated in susceptibility.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Pancreatitis' panel, with all differences resolved and reciprocal feedback provided to Genomics England.",
"status": "public",
"version": "1.6",
"version_created": "2024-08-08T07:17:52.187056+10:00",
"relevant_disorders": [
"Pancreatitis",
"HP:0001733"
],
"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"
},
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
}
],
"child_panel_ids": []
},
{
"id": 4365,
"hash_id": null,
"name": "Paraganglioma_phaeochromocytoma",
"disease_group": "Cancer Predisposition",
"disease_sub_group": "",
"description": "This panel contains genes associated with paraganglioma and phaeochromocytoma. \r\n\r\nFurther information on the testing criteria for paraganglioma and phaeochromocytoma can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3601-paraganglioma-phaeochromocytoma-panel-testi\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 paraganglioma and phaeochromocytoma 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": "1.2",
"version_created": "2026-01-12T09:39:17.151164+11:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 18,
"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": 4363,
"hash_id": null,
"name": "Parathyroid Tumour",
"disease_group": "Cancer Predisposition",
"disease_sub_group": "",
"description": "This panel contains genes associated with parathyroid 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 parathyroid 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": "1.2",
"version_created": "2024-11-01T16:33:54.194345+11:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 6,
"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": 259,
"hash_id": null,
"name": "Paroxysmal Dyskinesia",
"disease_group": "Neurology and neurodevelopmental disorders",
"disease_sub_group": "",
"description": "With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.",
"status": "public",
"version": "0.145",
"version_created": "2026-01-09T20:58:50.808183+11:00",
"relevant_disorders": [
"Paroxysmal dyskinesia",
"HP:0007166"
],
"stats": {
"number_of_genes": 54,
"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": 19,
"hash_id": null,
"name": "Periventricular Grey Matter Heterotopia",
"disease_group": "Neurology and neurodevelopmental disorders",
"disease_sub_group": "",
"description": "Periventricular nodular heterotopia is a disorder of neuronal migration in which neurons fail to migrate appropriately from the ventricular zone to the cortex during development, resulting in the formation of nodular brain tissue lining the ventricles.\r\n\r\nThis panel was developed and used by the Australian Genomics Brain Malformations Flagship. It is maintained by VCGS and a consensus panel used by RMH.",
"status": "public",
"version": "1.2",
"version_created": "2023-01-04T20:17:09.749124+11:00",
"relevant_disorders": [
"Grey matter heterotopia",
"HP:0002282"
],
"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": "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": 155,
"hash_id": null,
"name": "Peroxisomal Disorders",
"disease_group": "Metabolic disorders",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS.",
"status": "public",
"version": "0.61",
"version_created": "2025-12-31T14:23:29.190009+11:00",
"relevant_disorders": [
"Peroxisomal disease",
"MONDO:0019053"
],
"stats": {
"number_of_genes": 32,
"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": 233,
"hash_id": null,
"name": "Phagocyte Defects",
"disease_group": "Immunological disorders",
"disease_sub_group": "",
"description": "This panel contains genes associated with abnormalities in phagocyte number, function or both. Susceptibility to infection from phagocytic dysfunction ranges from mild, recurrent skin infections to overwhelming, fatal systemic infection. Affected individuals are more susceptible to bacterial and fungal infections but have a normal resistance to viral infections. Most are diagnosed in infancy due to the severity of the infection or the unusual presentation of the organism, but some are diagnosed in adulthood. Includes:\r\n- Congenital Neutropenias\r\n- Defects of Motility\r\n- Defects of Respiratory Burst\r\n- Other Non-Lymphoid Defects\r\n\r\nUpdated with the 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).\r\n\r\nThis panel was merged with and replaces the Melbourne Genomics Immunology Flagship Neutrophil Defects gene panel (22/03/2021).",
"status": "public",
"version": "1.45",
"version_created": "2025-12-15T10:26:57.519304+11:00",
"relevant_disorders": [
"Unusual infection",
"HP:0032101"
],
"stats": {
"number_of_genes": 58,
"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"
}
],
"child_panel_ids": []
},
{
"id": 3271,
"hash_id": null,
"name": "Pharmacogenomics_Paediatric",
"disease_group": "Screening",
"disease_sub_group": "",
"description": "This panel is under development, to be used by the Australian Genomics Acute Care Flagship.",
"status": "public",
"version": "0.50",
"version_created": "2020-08-27T20:53:11.205850+10:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 17,
"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": []
}
]
}