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{
"count": 261,
"next": null,
"previous": "https://panelapp-aus.org/api/v1/panels/?format=api&page=2",
"results": [
{
"id": 156,
"hash_id": null,
"name": "Photosensitivity Syndromes",
"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 photosensitivity, in particular DNA repair disorders and porphyrias.",
"status": "public",
"version": "1.11",
"version_created": "2025-12-08T10:32:19.181318+11:00",
"relevant_disorders": [
"Cutaneous photosensitivity",
"HP:0000992"
],
"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"
},
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
}
],
"child_panel_ids": []
},
{
"id": 160,
"hash_id": null,
"name": "Pierre Robin Sequence",
"disease_group": "Dysmorphic and congenital abnormality syndromes",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS.",
"status": "public",
"version": "0.61",
"version_created": "2026-01-26T17:52:14.382309+11:00",
"relevant_disorders": [
"Pierre Robin sequence",
"HP:0000201"
],
"stats": {
"number_of_genes": 54,
"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": 3236,
"hash_id": null,
"name": "Pituitary hormone deficiency",
"disease_group": "Endocrine disorders",
"disease_sub_group": "Pituitary disorders",
"description": "This panel contains genes associated with pituitary hormone deficiency. \r\nIncludes isolated hormone deficiency, combined hormone deficiencies, and panhypopituitarism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Pituitary hormone deficiency' panel V4.1, with all discrepancies reviewed and resolved (November 2025).",
"status": "public",
"version": "0.208",
"version_created": "2026-04-02T15:15:10.893013+11:00",
"relevant_disorders": [
"Hypopituitarism",
"HP:0040075"
],
"stats": {
"number_of_genes": 118,
"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": "Genetic Health Queensland",
"slug": "genetic-health-queensland",
"description": "Panel used by GHQ."
}
],
"child_panel_ids": []
},
{
"id": 4364,
"hash_id": null,
"name": "Pituitary Tumour",
"disease_group": "Cancer Predisposition",
"disease_sub_group": "",
"description": "This panel contains genes associated with pituitary 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 pituitary 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": "1.1",
"version_created": "2024-11-01T16:34:15.754213+11:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 8,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "Cancer Germline",
"slug": "cancer-germline",
"description": "Germline cancer panel"
},
{
"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": 3960,
"hash_id": null,
"name": "Pneumothorax",
"disease_group": "Respiratory disorders",
"disease_sub_group": "Structural lung disorders",
"description": "This panel contains genes that are reported causes of familial/sporadic spontaneous pneumothorax, or conditions where spontaneous pneumothorax is a differential diagnosis.\r\n\r\nThis panel is based on the Genomics England Pneumothorax - familial v2.38 gene panel.",
"status": "public",
"version": "1.1",
"version_created": "2025-04-24T14:31:41.408160+10:00",
"relevant_disorders": [
"Pneumothorax",
"HP:0002107"
],
"stats": {
"number_of_genes": 18,
"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": 3274,
"hash_id": null,
"name": "Polycystic liver disease",
"disease_group": "Gastroenterological disorders",
"disease_sub_group": "",
"description": "This panel was developed by GHQ and is a consensus panel used by VCGS.",
"status": "public",
"version": "1.8",
"version_created": "2023-01-04T20:28:54.017980+11:00",
"relevant_disorders": [
"Polycystic liver disease",
"HP:0006557"
],
"stats": {
"number_of_genes": 13,
"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."
},
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
}
],
"child_panel_ids": []
},
{
"id": 159,
"hash_id": null,
"name": "Polydactyly",
"disease_group": "Dysmorphic and congenital abnormality syndromes",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS. It contains genes that cause syndromic and non-syndromic polydactyly.",
"status": "public",
"version": "0.301",
"version_created": "2026-03-12T11:30:58.449890+11:00",
"relevant_disorders": [
"Polydactyly",
"HP:0010442"
],
"stats": {
"number_of_genes": 141,
"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": 18,
"hash_id": null,
"name": "Polymicrogyria and Schizencephaly",
"disease_group": "Neurology and neurodevelopmental disorders",
"disease_sub_group": "",
"description": "This panel was developed and used by the Australian Genomics Brain Malformations Flagship. It is maintained by VCGS.\r\n\r\nPlease consider the broader 'Malformations of cortical development' superpanel, particularly in the presence of complex or atypical imaging findings.",
"status": "public",
"version": "0.204",
"version_created": "2025-12-18T09:49:46.643708+11:00",
"relevant_disorders": [
"Polymicrogyria",
"HP:0002126;Schizencephaly",
"HP:0010636"
],
"stats": {
"number_of_genes": 88,
"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": "Australian Genomics",
"slug": "australian-genomics",
"description": "Panel used by Australian Genomics project."
}
],
"child_panel_ids": []
},
{
"id": 222,
"hash_id": null,
"name": "Predominantly Antibody Deficiency",
"disease_group": "Immunological disorders",
"disease_sub_group": "",
"description": "This panel contains genes that cause predominantly antibody deficiency, including:\r\n- Agammaglobulinemia\r\n- Severe Reduction in All Serum Immunoglobulin Isotypes with Profoundly Decreased or Absent B Cells, Agammaglobulinemia \r\n- CVID Phenotype\r\n- Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype\r\n- Severe Reduction in Serum IgG and IgA with Normal/Elevated IgM and Normal Numbers of B cells, Hyper IgM\r\n- Isotype, Light Chain, or Functional Deficiencies with Generally Normal Numbers of B Cells\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).",
"status": "public",
"version": "1.4",
"version_created": "2025-09-11T18:11:50.640122+10:00",
"relevant_disorders": [
"Decreased immunoglobulin level",
"HP:0041078"
],
"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"
},
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
}
],
"child_panel_ids": []
},
{
"id": 3861,
"hash_id": null,
"name": "Prepair 1000+",
"disease_group": "Screening",
"disease_sub_group": "",
"description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.",
"status": "public",
"version": "2.16",
"version_created": "2026-04-02T17:30:09.498472+11:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 1389,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
}
],
"child_panel_ids": []
},
{
"id": 4225,
"hash_id": null,
"name": "Prepair 500+",
"disease_group": "Screening",
"disease_sub_group": "",
"description": "This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.",
"status": "public",
"version": "2.0",
"version_created": "2025-05-30T02:52:12.758302+10:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 629,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
}
],
"child_panel_ids": []
},
{
"id": 4488,
"hash_id": null,
"name": "Primary nodular adrenocortical disease",
"disease_group": "Endocrine disorders; Cancer Predisposition",
"disease_sub_group": "Adrenal disorders",
"description": "This panel contains genes associated with primary pigmented nodular adrenocortical disease and ACTH-independent macronodular adrenal hyperplasia.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.",
"status": "public",
"version": "0.15",
"version_created": "2026-02-02T07:59:54.010712+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."
}
],
"child_panel_ids": []
},
{
"id": 3166,
"hash_id": null,
"name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"disease_group": "Endocrine disorders",
"disease_sub_group": "Gonadal and sex development disorders",
"description": "This panel contains genes that cause non-syndromic and syndromic amenorrhoea, and ovarian insufficiency/failure. It was developed by RMH and Genetic Health QLD. It is a consensus panel used by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Primary ovarian insufficiency' panel V1.69, with all discrepancies reviewed and resolved (October 2025). \r\n\r\nWith early onset premature ovarian insufficiency, the following should be considered:\r\n• X chromosome abnormality such as Turner syndrome\r\n• Presence of FMR1 premutation\r\n• Iatrogenic cause (bilateral oophorectomy, chemotherapy, radiotherapy or any other iatrogenic cause)\r\n• Presence of thyroid or adrenal auto-antibodies\r\n\r\nTesting for fragile X premutation and chromosome abnormalities are strongly recommended prior to genomic testing.\r\n\r\nThis panel should be used for individuals with raised FSH. If FSH is low, the Hypogonadotropic hypogonadism panel should be used.\r\n\r\nPlease also consider the Differences of Sex Development panel where appropriate depending on clinical features.",
"status": "public",
"version": "0.408",
"version_created": "2026-03-27T17:02:19.488211+11:00",
"relevant_disorders": [
"Premature ovarian insufficiency",
"HP:0008209"
],
"stats": {
"number_of_genes": 163,
"number_of_strs": 2,
"number_of_regions": 0
},
"types": [
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
},
{
"name": "Rare Disease",
"slug": "rare-disease",
"description": "Rare disease panels"
},
{
"name": "Genetic Health Queensland",
"slug": "genetic-health-queensland",
"description": "Panel used by GHQ."
},
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
}
],
"child_panel_ids": []
},
{
"id": 331,
"hash_id": null,
"name": "Progressive Myoclonic Epilepsy",
"disease_group": "Neurology and neurodevelopmental disorders",
"disease_sub_group": "",
"description": "This panel contains genes that cause progressive myoclonic epilepsies (PME) and neuronal ceroid lipofuscinoses (NCLs). It is maintained by Royal Melbourne Hospital.",
"status": "public",
"version": "0.28",
"version_created": "2025-11-21T09:34:57.163082+11:00",
"relevant_disorders": [
"Myoclonic seizure",
"HP:0032794"
],
"stats": {
"number_of_genes": 33,
"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": 3377,
"hash_id": null,
"name": "Progressive Neurological Conditions",
"disease_group": "Neurology and neurodevelopmental disorders",
"disease_sub_group": "",
"description": "Superpanel of progressive neurological conditions developed for use by the RMH Neurogenetics clinic.",
"status": "public",
"version": "21.539",
"version_created": "2026-04-02T15:02:32.745864+11:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 4145,
"number_of_strs": 87,
"number_of_regions": 19
},
"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,
58,
202,
271,
3070,
317,
68,
3071,
3468,
24,
25,
3084,
181,
203,
103,
3144,
145,
74,
106,
3438,
298,
290,
155,
3469,
3126
]
},
{
"id": 4372,
"hash_id": null,
"name": "Prostate Cancer",
"disease_group": "Cancer Predisposition",
"disease_sub_group": "",
"description": "This panel contains genes associated with prostate cancer. \r\n\r\nFurther information on the testing criteria for prostate cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3648-prostate-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 prostate 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": "2024-11-01T16:34:57.086516+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": 144,
"hash_id": null,
"name": "Proteinuria",
"disease_group": "Renal and urinary tract disorders",
"disease_sub_group": "",
"description": "To be used in individuals with suspected nephrotic syndrome and related conditions, part of the Renal Glomerular Disease Superpanel.\r\n\r\n09/01/2020: This panel has been compared with the Genomics England PanelApp Proteinuric Renal Disease panel and all discrepancies have been reviewed and resolved by Chirag Patel and Zornitza Stark, with reciprocal reviews provided to Genomics England.",
"status": "public",
"version": "0.239",
"version_created": "2026-03-12T18:51:41.043263+11:00",
"relevant_disorders": [
"Proteinuria HP:0000093"
],
"stats": {
"number_of_genes": 88,
"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": 161,
"hash_id": null,
"name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"disease_group": "Endocrine disorders",
"disease_sub_group": "",
"description": "This panel contains genes associated with pseudohypoparathyroidism, Albright Hereditary Osteodystrophy, and phenocopy disorders.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis' panel V1.5, with all discrepancies reviewed and resolved (August 2025).",
"status": "public",
"version": "0.33",
"version_created": "2025-08-26T20:19:58.071270+10:00",
"relevant_disorders": [
"Pseudohypoparathyroidism",
"HP:0000093"
],
"stats": {
"number_of_genes": 10,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
},
{
"name": "Rare Disease",
"slug": "rare-disease",
"description": "Rare disease panels"
},
{
"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": 3095,
"hash_id": null,
"name": "Pulmonary Arterial Hypertension",
"disease_group": "Cardiovascular disorders",
"disease_sub_group": "",
"description": "This panel is maintained by the Royal Melbourne Hospital. It is a consensus panel used by VCGS.\r\n\r\nThe content of this panel has been compared against the Genomics England 'Pulmonary Arterial Hypertension' panel, with all discrepancies resolved and reciprocal feedback provided to Genomics England, 27/07/2020.\r\n\r\nThe content of this panel has been aligned with curations by the ClinGen PAH GCEP, PMID 37422716, 07/08/2023.",
"status": "public",
"version": "1.56",
"version_created": "2026-03-28T14:21:49.158422+11:00",
"relevant_disorders": [
"Pulmonary arterial hypertension",
"HP:0002092"
],
"stats": {
"number_of_genes": 37,
"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."
}
],
"child_panel_ids": []
},
{
"id": 162,
"hash_id": null,
"name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"disease_group": "Respiratory disorders",
"disease_sub_group": "",
"description": "This panel includes genes causing lung fibrosis across the age spectrum. The paediatric manifestations include the childhood interstitial lung diseases (chILD), which are characterised by remodelling of lung parenchyma leading to abnormal gas exchange and have been classified broadly into those that occur during infancy (<2 years of age) and those that are not specific to infancy (>2 years of age). These childhood presentations are generally distinct from the presentations of ILD in older adults, which primarily manifests as Idiopathic Pulmonary Fibrosis (IPF).\r\n\r\nThis panel was originally developed by VCGS. It incorporates the panel used by chILDRANZ, the Australian Genomics Childhood Interstitial Lung Disease Flagship study, PMID: 36085161, with thanks to Dr Suzanna Lindsey-Temple.\r\n\r\nDepending on the specific clinical findings, please also consider the Pulmonary Arterial Hypertension, Immunological Disorders_Superpanel, and the Ciliary Dyskinesia panels.\r\n\r\nUpdated following literature review 19/12/2025.",
"status": "public",
"version": "1.10",
"version_created": "2026-03-17T11:39:32.713501+11:00",
"relevant_disorders": [
"Pulmonary fibrosis",
"HP:0002206; Abnormal pulmonary interstitial morphology",
"HP:0006530"
],
"stats": {
"number_of_genes": 97,
"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"
},
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
}
],
"child_panel_ids": []
},
{
"id": 163,
"hash_id": null,
"name": "Radial Ray Abnormalities",
"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 'Radial Dysplasia' panel and all differences have been resolved, with reciprocal feedback provided to Genomics England.",
"status": "public",
"version": "1.21",
"version_created": "2026-01-15T11:51:47.687282+11:00",
"relevant_disorders": [
"Abnormality of radial ray",
"HP:0410049"
],
"stats": {
"number_of_genes": 62,
"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": "Rare Disease",
"slug": "rare-disease",
"description": "Rare disease panels"
}
],
"child_panel_ids": []
},
{
"id": 164,
"hash_id": null,
"name": "Rasopathy",
"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 ClinGen Rasopathy Working Group gene-disease validity assessments (PMID: 30311384) and against the Genomics England PanelApp Rasopathies panel, with all discrepancies resolved and reciprocal feedback provided to Genomics England.",
"status": "public",
"version": "0.113",
"version_created": "2026-01-26T17:08:48.260163+11:00",
"relevant_disorders": [
"Rasopathy",
"MONDO:0021060"
],
"stats": {
"number_of_genes": 32,
"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": 3366,
"hash_id": null,
"name": "Red cell disorders",
"disease_group": "Haematological disorders",
"disease_sub_group": "",
"description": "This panel contains genes associated with red cell disorders, including anaemias and erythrocytosis.\r\n\r\nPlease refer to the Bone Marrow Failure panel if there is suspicion of pancytopaenia, and to the Diamond Blackfan Anaemia panel if specific features of DBA are present.\r\n\r\nWith thanks to Genomics England PanelApp/NHS Genomic Medicine Service for the original design of this panel.",
"status": "public",
"version": "1.52",
"version_created": "2026-03-28T15:18:36.006857+11:00",
"relevant_disorders": [
"Abnormal erythrocyte morphology",
"HP:0001877"
],
"stats": {
"number_of_genes": 116,
"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": 206,
"hash_id": null,
"name": "Regression",
"disease_group": "Neurology and neurodevelopmental disorders",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS.",
"status": "public",
"version": "0.610",
"version_created": "2026-03-31T18:57:58.699788+11:00",
"relevant_disorders": [
"Developmental regression",
"HP:0002376"
],
"stats": {
"number_of_genes": 442,
"number_of_strs": 3,
"number_of_regions": 1
},
"types": [
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
},
{
"name": "Rare Disease",
"slug": "rare-disease",
"description": "Rare disease panels"
}
],
"child_panel_ids": []
},
{
"id": 193,
"hash_id": null,
"name": "Renal Ciliopathies and Nephronophthisis",
"disease_group": "Renal and urinary tract disorders",
"disease_sub_group": "",
"description": "This panel was created by the KidGen consortium and is a consensus panel used by VCGS and KidGen",
"status": "public",
"version": "1.53",
"version_created": "2026-03-19T17:14:29.802874+11:00",
"relevant_disorders": [
"Abnormality of renal medullary morphology",
"HP:0025361; Renal cyst",
"HP:0000107"
],
"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": "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": 263,
"hash_id": null,
"name": "Renal Cystic Disease_SuperPanel",
"disease_group": "Renal and urinary tract disorders",
"disease_sub_group": "",
"description": "This panel combines the lists for macro cystic and micro cystic renal disease (nephronophthisis)",
"status": "public",
"version": "2.0",
"version_created": "2026-03-24T16:17:30.274317+11:00",
"relevant_disorders": [
"Renal cyst",
"HP:0000107"
],
"stats": {
"number_of_genes": 132,
"number_of_strs": 0,
"number_of_regions": 2
},
"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"
}
],
"child_panel_ids": [
193,
194
]
},
{
"id": 262,
"hash_id": null,
"name": "Renal Glomerular Disease_SuperPanel",
"disease_group": "Renal and urinary tract disorders",
"disease_sub_group": "",
"description": "To be used for undifferentiated renal glomerular disease presenting with haematuria +/- proteinuria",
"status": "public",
"version": "1.95",
"version_created": "2026-03-12T18:52:02.109887+11:00",
"relevant_disorders": [
"Abnormal glomerular filtration rate",
"HP:0012212; Hematuria",
"HP:0000790;Proteinuria",
"HP:0000093"
],
"stats": {
"number_of_genes": 104,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "Superpanel",
"slug": "superpanel",
"description": "Superpanel"
},
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
},
{
"name": "KidGen",
"slug": "kidgen",
"description": "Panel used by the KidGen Collaborative."
},
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
}
],
"child_panel_ids": [
39,
144
]
},
{
"id": 194,
"hash_id": null,
"name": "Renal Macrocystic Disease",
"disease_group": "Renal and urinary tract disorders",
"disease_sub_group": "",
"description": "This panel is developed was developed and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS, GHQ, and RMH.\r\n\r\nThis panel contains genes that cause macrocystic kidney disease. Many of the disorders also have a polycystic liver disease, either as the predominant phenotype or in association with primary kidney cysts.",
"status": "public",
"version": "1.0",
"version_created": "2026-03-24T16:17:17.075108+11:00",
"relevant_disorders": [
"Renal cyst",
"HP:0000107"
],
"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": "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"
},
{
"name": "Genetic Health Queensland",
"slug": "genetic-health-queensland",
"description": "Panel used by GHQ."
}
],
"child_panel_ids": []
},
{
"id": 199,
"hash_id": null,
"name": "Renal Tubulointerstitial Disease",
"disease_group": "Renal and urinary tract disorders",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by the KidGen Collaborative. It is a consensus panel used by VCGS and RMH.",
"status": "public",
"version": "1.7",
"version_created": "2025-10-30T15:54:47.234241+11:00",
"relevant_disorders": [
"Abnormal tubulointerstitial morphology",
"HP:0001969"
],
"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": "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": 3993,
"hash_id": null,
"name": "Renal Tubulopathies and related disorders",
"disease_group": "Renal and urinary tract disorders",
"disease_sub_group": "",
"description": "This panel was developed/updated in Dec'22 and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS, GHQ, and RMH.\r\n\r\nThis panel contains genes that cause:\r\n-renal tubular disorders\r\n-electrolyte abnormalities (e.g. Na, K, H, Mg, Ca, PO4, Cl, HCO3)\r\n-aldosterone abnormalities\r\n-nephrolithiasis\r\n-metabolic renal diseases \r\n\r\nIt supersedes the following panels: Bartter syndrome, Dent disease, Diabetes Insipidus, Hyperoxaluria, Metabolic renal disease, Nephrolithiasis and Nephrocalcinosis, Renal abnormalities of calcium and phosphate metabolism, Renal Abnormalities of Magnesium Metabolism, Renal Hypertension and Disorders of Aldosterone Metabolism, and Renal Tubulopathies_KidGen.",
"status": "public",
"version": "1.26",
"version_created": "2026-03-30T10:01:51.458813+11:00",
"relevant_disorders": [
"Renal tubular dysfunction",
"HP:0000124; Nephrolithiasis",
"HP:0000787; Abnormal circulating aldosterone",
"HP:0040085"
],
"stats": {
"number_of_genes": 134,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"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"
},
{
"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."
}
],
"child_panel_ids": []
},
{
"id": 3597,
"hash_id": null,
"name": "Repeat Disorders",
"disease_group": "",
"disease_sub_group": "",
"description": "This panel contains reported short tandem repeat (STR) expansion disorders. The naming convention of the STRs is based on the name of the condition or fragile site that the expansion is associated with. \r\nThe panel was developed by RMH and WEHI, and is maintained by RMH.\r\n\r\nThis panel is used as a research panel by the Australian Genomics Acute Care study.",
"status": "public",
"version": "0.272",
"version_created": "2026-01-02T15:16:39.779953+11:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 0,
"number_of_strs": 76,
"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": "Australian Genomics",
"slug": "australian-genomics",
"description": "Panel used by Australian Genomics project."
}
],
"child_panel_ids": []
},
{
"id": 3124,
"hash_id": null,
"name": "Retinal Disorders Superpanel",
"disease_group": "Ophthalmological disorders",
"disease_sub_group": "",
"description": "This is a superpanel of the retinal disorder panels, and includes genes associated with isolated retinal disorders and optic atrophy, as well as genes where retinal disease/optic atrophy occur as part of a complex or multi-system disorder.\r\n\r\nConsider using this panel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.",
"status": "public",
"version": "6.474",
"version_created": "2026-04-01T10:29:43.934386+11:00",
"relevant_disorders": [
"Abnormal retinal morphology",
"HP:0000479"
],
"stats": {
"number_of_genes": 602,
"number_of_strs": 1,
"number_of_regions": 1
},
"types": [
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
},
{
"name": "Rare Disease",
"slug": "rare-disease",
"description": "Rare disease panels"
},
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
},
{
"name": "Superpanel",
"slug": "superpanel",
"description": "Superpanel"
}
],
"child_panel_ids": [
149,
53,
3114,
3113,
3149,
3086,
3099,
277,
278,
3147,
303,
283,
3150
]
},
{
"id": 277,
"hash_id": null,
"name": "Retinitis pigmentosa",
"disease_group": "Ophthalmological disorders",
"disease_sub_group": "",
"description": "This panel contains genes that cause nonsyndromic retinitis pigmentosa and Leber congenital amaurosis. \r\nNote: Exome sequencing may not be a suitable technique for detecting pathogenic variants in RPGR due to regions of low coverage.\r\n\r\nPlease consider the Syndromic Retinopathy and the Retinal Disorders Superpanel when additional features are present.",
"status": "public",
"version": "0.245",
"version_created": "2026-03-28T13:33:23.781842+11:00",
"relevant_disorders": [
"Abnormal retinal morphology",
"HP:0000479"
],
"stats": {
"number_of_genes": 159,
"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": 3084,
"hash_id": null,
"name": "Rhabdomyolysis and Metabolic Myopathy",
"disease_group": "Neurology and neurodevelopmental disorders",
"disease_sub_group": "",
"description": "This panel contains genes that cause conditions where rhabdomyolysis, exercise intolerance, and metabolic myopathy are a presenting or prominent feature. It was developed and maintained by the Royal Melbourne Hospital. It is a consensus panel used by VCGS.\r\n\r\nDepending on the clinical features present, consider applying additional panels such as Mitochondrial Disorders or the Myopathy Superpanel.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Rhabdomyolysis and metabolic muscle disorders' panel V1.42 on 8/10/2020, with all discrepancies resolved and reciprocal feedback provided to Genomics England.",
"status": "public",
"version": "1.46",
"version_created": "2026-03-31T19:05:14.301918+11:00",
"relevant_disorders": [
"Rhabdomyolysis",
"HP:0003201;Exercise intolerance",
"HP:0003546;Metabolic myopathy",
"MONDO:0020123"
],
"stats": {
"number_of_genes": 124,
"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": 4359,
"hash_id": null,
"name": "Sarcoma non-soft tissue",
"disease_group": "Cancer Predisposition",
"disease_sub_group": "",
"description": "This panel contains genes associated with non-soft tissue sarcoma. \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 non-soft tissue sarcoma 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": "2024-11-01T16:35:25.287340+11:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 7,
"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": 4358,
"hash_id": null,
"name": "Sarcoma soft tissue",
"disease_group": "Cancer Predisposition",
"disease_sub_group": "",
"description": "This panel contains genes associated with soft tissue sarcoma.\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 soft tissue sarcoma 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": "2026-01-12T09:39:55.152718+11:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 17,
"number_of_strs": 0,
"number_of_regions": 1
},
"types": [
{
"name": "Cancer Germline",
"slug": "cancer-germline",
"description": "Germline cancer panel"
}
],
"child_panel_ids": []
},
{
"id": 4357,
"hash_id": null,
"name": "Schwannoma",
"disease_group": "Cancer Predisposition",
"disease_sub_group": "",
"description": "This panel contains genes associated with schwannoma. \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 schwannoma 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": "2024-11-01T16:35:56.331762+11:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 7,
"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": 235,
"hash_id": null,
"name": "Severe Combined Immunodeficiency",
"disease_group": "Immunological disorders",
"disease_sub_group": "",
"description": "This panel contains genes associated with severe combined immunodeficiency (SCID), including the following:\r\n- SCID with absent T present B cells\r\n- SCID with absent T absent B cells\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).",
"status": "public",
"version": "1.30",
"version_created": "2026-03-02T10:27:29.970169+11:00",
"relevant_disorders": [
"Severe combined immunodeficiency",
"HP:0004430"
],
"stats": {
"number_of_genes": 28,
"number_of_strs": 0,
"number_of_regions": 2
},
"types": [
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
},
{
"name": "Melbourne Genomics",
"slug": "melbourne-genomics",
"description": "Panel used by a Melbourne Genomics project."
},
{
"name": "Rare Disease",
"slug": "rare-disease",
"description": "Rare disease panels"
},
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
}
],
"child_panel_ids": []
},
{
"id": 3764,
"hash_id": null,
"name": "Severe early-onset obesity",
"disease_group": "Endocrine disorders",
"disease_sub_group": "",
"description": "This panel contains genes associated with syndromic and non-syndromic causes of severe, early-onset obesity (weight >3 standard deviations above the mean, with onset before the age of 5 years).\r\n\r\nIf other growth parameters are affected, please consider the Overgrowth and the Macrocephaly_Megalencephaly panels.",
"status": "public",
"version": "1.30",
"version_created": "2026-03-18T15:16:42.995334+11:00",
"relevant_disorders": [
"Obesity",
"HP:0001513"
],
"stats": {
"number_of_genes": 59,
"number_of_strs": 0,
"number_of_regions": 3
},
"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": 174,
"hash_id": null,
"name": "Short QT syndrome",
"disease_group": "Cardiovascular disorders",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS.",
"status": "public",
"version": "1.7",
"version_created": "2023-07-25T17:54:13.214709+10:00",
"relevant_disorders": [
"Shortened QT interval",
"HP:0012232"
],
"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."
}
],
"child_panel_ids": []
},
{
"id": 179,
"hash_id": null,
"name": "Skeletal Ciliopathies",
"disease_group": "Skeletal disorders",
"disease_sub_group": "",
"description": "This panel was developed and is maintained by VCGS. \r\n\r\nThis panel contains genes associated with skeletal ciliopathies (including short rib polydactyly and jeune asphyxiating thoracic dystrophy).\r\n\r\nIt has been compared against the Genomics England PanelApp Skeletal Ciliopathy panel, with all differences resolved and reciprocal feedback provided to Genomics England, 24/05/2020.\r\n\r\nConsider applying the broader Skeletal Dysplasia panel if the clinical presentation is not entirely typical of a skeletal ciliopathy.",
"status": "public",
"version": "1.23",
"version_created": "2026-02-26T20:48:41.390236+11:00",
"relevant_disorders": [
"Short rib",
"HP:0000773; Polydactyly",
"HP:0010442; Bell-shaped thorax",
"HP:0001591"
],
"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": "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": 258,
"hash_id": null,
"name": "Skeletal dysplasia",
"disease_group": "Skeletal disorders",
"disease_sub_group": "Skeletal dysplasias",
"description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.",
"status": "public",
"version": "0.430",
"version_created": "2026-04-02T18:26:54.505675+11:00",
"relevant_disorders": [
"Skeletal dysplasia",
"HP:0002652"
],
"stats": {
"number_of_genes": 633,
"number_of_strs": 4,
"number_of_regions": 6
},
"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": 28,
"hash_id": null,
"name": "Skeletal Dysplasia_Fetal",
"disease_group": "Skeletal disorders",
"disease_sub_group": "",
"description": "This panel was developed and used by the Melbourne Genomics Perinatal Autopsy Flagship. It is maintained by VCGS.\r\n\r\nIt contains genes associated with conditions primarily affecting bone and cartilage that present prenatally.\r\n\r\nPlease consider the larger Fetal Anomalies and Skeletal Dysplasia panels, or other specific panels such as Growth Failure, Craniosynostosis, Radial ray abnormalities, Polydactyly or Limb and Digital Malformations depending on the clinical presentation.",
"status": "public",
"version": "0.246",
"version_created": "2026-03-02T10:22:48.751874+11:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 157,
"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."
}
],
"child_panel_ids": []
},
{
"id": 302,
"hash_id": null,
"name": "Skeletal Muscle Channelopathies",
"disease_group": "Neurology and neurodevelopmental disorders",
"disease_sub_group": "",
"description": "This panel contains genes that encode skeletal muscle channel proteins, and associated with malignant hyperthermia and periodic paralysis (hyperkalemic, hypokalemic/thyrotoxic, normokalemic potassium-sensitive)/congenital myotonia. It is maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nThis panel has been compared against the Genomics England PanelApp \"Skeletal Muscle Channelopathy\" panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 20/8/20.",
"status": "public",
"version": "1.3",
"version_created": "2026-01-04T18:02:13.252564+11:00",
"relevant_disorders": [
"Periodic paralysis",
"HP:0003768; Myotonia",
"HP:0002486"
],
"stats": {
"number_of_genes": 13,
"number_of_strs": 2,
"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": 4290,
"hash_id": null,
"name": "Speech apraxia",
"disease_group": "Neurology and neurodevelopmental disorders",
"disease_sub_group": "",
"description": "Childhood apraxia of speech (CAS; synonymous with speech apraxia/dyspraxia or verbal apraxia/dyspraxia) is a non-progressive neurodevelopmental disorder with a primary presentation of speech planning and programming disorder.\r\n\r\nCAS involves difficulty producing sequences of sounds with accuracy and correct prosody, resulting in poor speech intelligibility. Individuals with CAS typically have very delayed development of first spoken words. Other common co-occurring features may include fine and gross motor impairment, language impairment, learning difficulties, intellectual disability, autism and attention deficit hyperactivity disorder. Other associated features may include hypotonia, seizures, and facial dysmorphism/dysmorphology.\r\n \r\nPMID: 38366112 summarises three gene discovery cohort studies of individuals with CAS. Diagnostic yield ranged between 26-42%.\r\n\r\nThe aetiology of CAS is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia and Ataxia panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Angela Morgan, Michael Hildebrand, Thomas Scerri, David Amor and team for their contribution to the development of this panel.",
"status": "public",
"version": "1.28",
"version_created": "2026-03-06T16:38:48.591739+11:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 35,
"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": 4323,
"hash_id": null,
"name": "Spontaneous coronary artery dissection",
"disease_group": "Cardiovascular disorders",
"disease_sub_group": "",
"description": "Spontaneous coronary artery (SCA) dissection is a rare cause of myocardial infarction, particularly in younger individuals. While the aetiology is likely to be polygenic in the majority of individuals, SCA dissection may also be indicative of an underlying systemic arteriopathy. This panel contains genes that have been reported in association with this clinical presentation.\r\n\r\nConsider also using the Aortopathy_Connective Tissue Disorders panel in conjunction.\r\n\r\nThis panel was developed in collaboration with Cardiovascular Genomics at the Victorian Heart Hospital and the Clinical Genetics & Genomics Service at Alfred Health.",
"status": "public",
"version": "0.56",
"version_created": "2024-12-09T13:28:09.179277+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": "Rare Disease",
"slug": "rare-disease",
"description": "Rare disease panels"
}
],
"child_panel_ids": []
},
{
"id": 3114,
"hash_id": null,
"name": "Stickler Syndrome",
"disease_group": "Ophthalmological disorders",
"disease_sub_group": "",
"description": "This is a consensus panel between VCGS and RMH.\r\n\r\nThis panel contains genes associated with Stickler syndrome, a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Robin sequence); and mild spondyloepiphyseal dysplasia and/or precocious arthritis.\r\n\r\nThe features of Stickler syndrome can be highly variable. Consider applying the Vitreoretinopathy, Deafness, Skeletal Dysplasia and Pierre Robin sequence panels if features are not entirely typical.",
"status": "public",
"version": "1.12",
"version_created": "2025-10-24T18:06:37.494562+11:00",
"relevant_disorders": [
"Myopia",
"HP:0000545; Retinal detachment",
"HP:0000541; Cleft palate",
"HP:0000175"
],
"stats": {
"number_of_genes": 10,
"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": 3141,
"hash_id": null,
"name": "Stroke",
"disease_group": "Neurology and neurodevelopmental disorders",
"disease_sub_group": "",
"description": "This panel contains genes that cause conditions with stroke or stroke-like episodes. It was developed and is maintained by RMH and is a consensus panel used by VCGS.\r\n\r\nConsider applying the Bleeding and Platelet disorders, Aortopathy_Connective Tissue Disorders and Cerebral Vascular Malformations panels based on the clinical features.",
"status": "public",
"version": "1.48",
"version_created": "2026-03-31T17:20:59.161732+11:00",
"relevant_disorders": [
"Stroke",
"HP:0001297"
],
"stats": {
"number_of_genes": 75,
"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": 237,
"hash_id": null,
"name": "Susceptibility to Viral Infections",
"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.\r\n\r\nUpdated with the 2019 International Union of Immunological Societies Committee classification, Tangye et al. 2019 and the COVID Human Genetic Effort list, Casanova et al 2020.",
"status": "public",
"version": "1.10",
"version_created": "2026-03-26T15:17:02.053015+11:00",
"relevant_disorders": [
"Recurrent viral infections",
"HP:0004429; Severe viral infection",
"HP:0031691"
],
"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": "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": 3099,
"hash_id": null,
"name": "Syndromic Retinopathy",
"disease_group": "Ophthalmological disorders",
"disease_sub_group": "",
"description": "This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.",
"status": "public",
"version": "0.256",
"version_created": "2026-03-31T19:05:29.271183+11:00",
"relevant_disorders": [
"Retinopathy",
"HP:0000488"
],
"stats": {
"number_of_genes": 138,
"number_of_strs": 1,
"number_of_regions": 1
},
"types": [
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
},
{
"name": "Rare Disease",
"slug": "rare-disease",
"description": "Rare disease panels"
},
{
"name": "Victorian Clinical Genetics Services",
"slug": "victorian-clinical-genetics-services",
"description": "Panel used by VCGS."
}
],
"child_panel_ids": []
},
{
"id": 4362,
"hash_id": null,
"name": "Thyroid Cancer",
"disease_group": "Cancer Predisposition",
"disease_sub_group": "",
"description": "This panel contains genes associated with thyroid cancer. \r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with thyroid 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": "2024-11-01T16:36:20.733311+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": 4126,
"hash_id": null,
"name": "Transplant Co-Morbidity",
"disease_group": "Screening",
"disease_sub_group": "",
"description": "This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma",
"status": "public",
"version": "0.21",
"version_created": "2026-01-16T12:00:12.269232+11:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 278,
"number_of_strs": 0,
"number_of_regions": 0
},
"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."
}
],
"child_panel_ids": []
},
{
"id": 20,
"hash_id": null,
"name": "Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly",
"disease_group": "Neurology and neurodevelopmental disorders",
"disease_sub_group": "",
"description": "This panel was developed and used by the Australian Genomics Brain Malformations Flagship. It is maintained by VCGS.\r\n\r\nWhere imaging and clinical features are less specific, consider applying the Malformations of Cortical Development superpanel.",
"status": "public",
"version": "0.48",
"version_created": "2022-10-15T17:24:12.744641+11:00",
"relevant_disorders": [
"Focal cortical dysplasia HP:0032046;Hemimegalencephaly HP:0007206"
],
"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": "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": 21,
"hash_id": null,
"name": "Tubulinopathies",
"disease_group": "Neurology and neurodevelopmental disorders",
"disease_sub_group": "",
"description": "This panel was developed and used by the Australian Genomics Brain Malformations Flagship. It is maintained by VCGS.\r\n\r\nTubulinopathies refer to a wide spectrum of cortical malformations that result from defects in genes encoding the tubulin protein that regulates neuronal migration during brain development.\r\n\r\nBrain malformations include:\r\n-A range of lissencephalies (classic lissencephaly, lissencephaly with cerebellar hypoplasia, lissencephaly with agenesis of the corpus callosum, and centrally predominant pachygyria),\r\n-Polymicrogyria-like cortical dysplasia,\r\n-Simplified gyral pattern, and\r\n-Microlissencephaly often in combination with dysplastic basal ganglia, corpus callosum abnormalities, and hypoplasia or dysplasia of the brain stem and cerebellum.\r\n\r\nClinical features include motor and intellectual disabilities, epilepsy, and ocular findings of varying severity.\r\n\r\nWhere imaging and clinical features are less specific, consider applying the Malformations of Cortical Development superpanel.",
"status": "public",
"version": "1.2",
"version_created": "2024-09-11T12:06:06.122951+10:00",
"relevant_disorders": [
"Abnormal cortical gyration",
"HP:0002536"
],
"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": "Australian Genomics",
"slug": "australian-genomics",
"description": "Panel used by Australian Genomics project."
},
{
"name": "Rare Disease",
"slug": "rare-disease",
"description": "Rare disease panels"
}
],
"child_panel_ids": []
},
{
"id": 3086,
"hash_id": null,
"name": "Usher Syndrome",
"disease_group": "Ophthalmological disorders",
"disease_sub_group": "",
"description": "This panel was developed by RMH, and is a consensus panel used by VCGS.\r\n\r\nConsider using the broader Deafness_IsolatedAndComplex and Retinal Disorders panels if findings are not specific, and a wider differential is considered, including the possibility of dual diagnosis.",
"status": "public",
"version": "1.5",
"version_created": "2023-01-15T18:08:18.097118+11:00",
"relevant_disorders": [
"Usher syndrome",
"MONDO:0019501"
],
"stats": {
"number_of_genes": 20,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
},
{
"name": "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": 300,
"hash_id": null,
"name": "Vascular Malformations_Germline",
"disease_group": "Cardiovascular disorders",
"disease_sub_group": "",
"description": "This panel contains genes that cause Mendelian vascular malformation disorders, particularly those presenting with skin lesions. Genes causing sporadic and congenital vascular malformations through somatic activating mutations are rated Red and labelled 'somatic'. This gene panel is maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nIf a sample of affected tissue is being tested, please use the Vascular Malformations_Somatic panel.",
"status": "public",
"version": "1.13",
"version_created": "2026-01-24T18:03:26.952041+11:00",
"relevant_disorders": [
"Abnormal vascular morphology HP:0025015"
],
"stats": {
"number_of_genes": 42,
"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": 3181,
"hash_id": null,
"name": "Vascular Malformations_Somatic",
"disease_group": "Cardiovascular disorders",
"disease_sub_group": "",
"description": "This panel contains genes that cause vascular malformations as a result of somatic mutations and is suitable for use when affected tissue is being tested.\r\n\r\nIf a germline disorder is suspected, please use the Vascular Malformations_Germline panel.",
"status": "public",
"version": "1.16",
"version_created": "2025-10-02T12:54:21.549968+10:00",
"relevant_disorders": [
"Abnormal vascular morphology HP:0025015"
],
"stats": {
"number_of_genes": 25,
"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": 3731,
"hash_id": null,
"name": "Vascular Malformations SuperPanel",
"disease_group": "Cardiovascular disorders",
"disease_sub_group": "",
"description": "This is a superpanel of vascular disorders (both inherited and somatic) used by Dermatology at Royal Melbourne Hospital.",
"status": "public",
"version": "1.97",
"version_created": "2026-02-06T22:04:55.700525+11:00",
"relevant_disorders": [
"Abnormal vascular morphology HP:0025015"
],
"stats": {
"number_of_genes": 248,
"number_of_strs": 0,
"number_of_regions": 1
},
"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": [
3181,
3472,
300,
3144,
133,
3098
]
},
{
"id": 4257,
"hash_id": null,
"name": "Vitamin metabolism disorders",
"disease_group": "Metabolic disorders",
"disease_sub_group": "",
"description": "The gene panel contains genes that cause inborn errors of vitamin metabolism.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.",
"status": "public",
"version": "1.7",
"version_created": "2024-09-18T09:35:00.495806+10:00",
"relevant_disorders": [
"Abnormality of vitamin metabolism",
"HP:0100508"
],
"stats": {
"number_of_genes": 62,
"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": 3113,
"hash_id": null,
"name": "Vitreoretinopathy",
"disease_group": "Ophthalmological disorders",
"disease_sub_group": "",
"description": "This is a consensus panel between VCGS and RMH.\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": "1.9",
"version_created": "2025-09-25T12:27:18.666129+10:00",
"relevant_disorders": [
"Abnormal posterior eye segment morphology",
"HP:0004329"
],
"stats": {
"number_of_genes": 20,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "Royal Melbourne Hospital",
"slug": "royal-melbourne-hospital",
"description": "Royal Melbourne Hospital"
},
{
"name": "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": 4366,
"hash_id": null,
"name": "Wilms Tumour",
"disease_group": "Cancer Predisposition",
"disease_sub_group": "",
"description": "This panel contains genes associated with Wilms tumour. \r\n\r\nFurther information on the testing criteria for Wilms tumour can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/paediatric/genetic-testing-using-cancer-gene-panels/3703-wilms-tumour-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 Wilms 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\nWhere Beckwith-Wiedemann Syndrome (BWS) is suspected it is more appropriate to start with methylation studies of 11p15 BWS region in blood and tissue.\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": "2025-09-05T08:17:06.102713+10:00",
"relevant_disorders": [],
"stats": {
"number_of_genes": 22,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "Cancer Germline",
"slug": "cancer-germline",
"description": "Germline cancer panel"
}
],
"child_panel_ids": []
}
]
}