Panels

Panel	Evaluated genes	Reviewers	Actions
Filter panels 274 panels
Achromatopsia Level 2: Ophthalmological disorders Relevant disorders: Achromatopsia, HP:0011516 Version 1.5 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services,	8 of 8 100%	2 reviewers	Download
Additional findings_Adult Level 2: Screening Version 0.166 Panel Types: Melbourne Genomics, Australian Genomics, Royal Melbourne Hospital,	71 of 78 91%	3 reviewers	Download
Additional findings_Paediatric Level 2: Screening Version 0.278 Panel Types: Australian Genomics,	131 of 1425 9%	5 reviewers	Download
Adult Cardiac SuperPanel Level 2: Cardiovascular disorders Relevant disorders: Cardiomyopathy, HP:0001638; Abnormality of the myocardium, HP:0001637; Arrhythmia, HP:0011675 Version 1.36 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services,	184 of 184 100%	22 reviewers	Download
Alagille syndrome Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0 Panel Types: Victorian Clinical Genetics Services, Rare Disease,	2 of 2 100%	1 reviewer	Download
Alternating Hemiplegia and Hemiplegic Migraine Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Hemiplegia, HP:0002301;Migraine, HP:0002076 Version 0.57 Panel Types: Victorian Clinical Genetics Services, Rare Disease, Royal Melbourne Hospital,	18 of 18 100%	5 reviewers	Download
Amelogenesis imperfecta Level 2: Skeletal disorders Relevant disorders: Amelogenesis imperfecta, HP:0000705 Version 1.10 Panel Types: Rare Disease, Victorian Clinical Genetics Services,	41 of 41 100%	7 reviewers	Download
Aminoacidopathy Level 2: Metabolic disorders Relevant disorders: Abnormality of amino acid metabolism, HP:0004337 Version 1.128 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services,	134 of 134 100%	10 reviewers	Download
Angelman Rett like syndromes Level 2: Dysmorphic and congenital abnormality syndromes Version 1.10 Panel Types: Victorian Clinical Genetics Services, Rare Disease,	37 of 37 100%	2 reviewers	Download
Anophthalmia_Microphthalmia_Coloboma Level 2: Ophthalmological disorders Relevant disorders: Anophthalmia, HP:0000528;Microphthalmia, HP:0000568;Coloboma, HP:0000589 Version 1.39 Panel Types: Victorian Clinical Genetics Services, Rare Disease,	94 of 94 100%	14 reviewers	Download
Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Relevant disorders: Aortic aneurysm, HP:0004942;Joint dislocation, HP:0001373;Cutis laxa, HP:0000973; Ectopia lentis, HP:0001083;Arachnodactyly, HP:0001166 Version 1.85 Panel Types: Victorian Clinical Genetics Services, Rare Disease, Royal Melbourne Hospital,	92 of 92 100%	20 reviewers	Download
Arrhythmia_SuperPanel Level 2: Cardiovascular disorders Relevant disorders: Arrhythmia, HP:0011675 Version 3.25 Panel Types: Superpanel, Victorian Clinical Genetics Services, Rare Disease, Royal Melbourne Hospital,	73 of 73 100%	13 reviewers	Download
Arrhythmogenic Cardiomyopathy Level 2: Cardiovascular disorders Relevant disorders: Arrhythmia, HP:0011675;Cardiomyopathy, HP:0001638 Version 0.68 Panel Types: Victorian Clinical Genetics Services, Rare Disease,	17 of 17 100%	6 reviewers	Download
Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Flexion contracture, HP:0001371 Version 0.411 Panel Types: Victorian Clinical Genetics Services, Rare Disease, Royal Melbourne Hospital,	141 of 210 67%	21 reviewers	Download
Ataxia - adult onset Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Ataxia, HP:0001251 Version 1.16 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services,	126 of 126 100% STRs: 20	22 reviewers	Download
Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Ataxia, HP:0001251 Version 1.26 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services,	251 of 251 100%	27 reviewers	Download
Ataxia_Superpanel Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Ataxia, HP:0001251 Version 3.40 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services, Superpanel,	384 of 384 100% STRs: 20	32 reviewers	Download
Atrial Fibrillation Level 2: Cardiovascular disorders Relevant disorders: Atrial fibrillation, HP:0005110 Version 1.2 Panel Types: Victorian Clinical Genetics Services, Rare Disease,	6 of 6 100%	5 reviewers	Download
Atypical Haemolytic Uraemic Syndrome_MPGN Level 2: Renal and urinary tract disorders Relevant disorders: Haemolytic anaemia, HP:0001878 Version 0.53 Panel Types: Royal Melbourne Hospital, Victorian Clinical Genetics Services, KidGen, Rare Disease,	16 of 16 100%	6 reviewers	Download
Auditory Neuropathy Level 2: Neurology and neurodevelopmental disorders Version 1.1 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services,	21 of 21 100%	4 reviewers	Download
Autism Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Autism, HP:0000717 Version 0.198 Panel Types: Victorian Clinical Genetics Services, Rare Disease, Royal Melbourne Hospital,	67 of 148 45%	13 reviewers	Download
Autonomic neuropathy Level 2: Autonomic Neuropathy Version 0.50 Panel Types: Rare Disease, Victorian Clinical Genetics Services,	19 of 19 100%	2 reviewers	Download
BabyScreen+ newborn screening Level 2: Screening Version 1.114	1279 of 1722 74%	8 reviewers	Download
Bardet Biedl syndrome Level 2: Dysmorphic and congenital abnormality syndromes Version 1.10 Panel Types: Victorian Clinical Genetics Services, Rare Disease, Royal Melbourne Hospital,	26 of 26 100%	4 reviewers	Download
Bleeding and Platelet Disorders Level 2: Haematological disorders Relevant disorders: Abnormal bleeding, HP:0001892;Abnormal thrombosis, HP:0001977 Version 1.43 Panel Types: Victorian Clinical Genetics Services, Rare Disease,	132 of 132 100%	23 reviewers	Download
Blepharophimosis Level 2: Ophthalmological disorders Relevant disorders: Blepharophimosis, HP:0000581 Version 1.1 Panel Types: Victorian Clinical Genetics Services, Rare Disease,	23 of 23 100%	3 reviewers	Download
Bone Marrow Failure Level 2: Haematological disorders Relevant disorders: Abnormality of multiple cell lineages of the bone marrow, HP:0012145 Version 1.93 Panel Types: Victorian Clinical Genetics Services, Rare Disease, Royal Melbourne Hospital,	143 of 143 100%	17 reviewers	Download
Brain Calcification Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Cerebral calcification, HP:0002514 Version 1.96 Panel Types: Victorian Clinical Genetics Services, Rare Disease, Royal Melbourne Hospital,	82 of 82 100%	10 reviewers	Download
Brain Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.3 Panel Types: Victorian Clinical Genetics Services, Rare Disease, Royal Melbourne Hospital,	22 of 22 100%	3 reviewers	Download
Brugada syndrome Level 2: Cardiovascular disorders Version 0.34 Panel Types: Victorian Clinical Genetics Services, Rare Disease,	11 of 11 100%	4 reviewers	Download
Calcium and Phosphate disorders Level 2: Renal and urinary tract disorders; Endocrine disorders Relevant disorders: Abnormal blood calcium levels, HP:0004363; Abnormal blood phosphate levels, HP:0100529 Version 1.24 Panel Types: Victorian Clinical Genetics Services, KidGen, Genetic Health Queensland, Royal Melbourne Hospital,	51 of 51 100%	10 reviewers	Download
Callosome Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Abnormal corpus callosum morphology, HP:0001273 Version 0.522 Panel Types: Victorian Clinical Genetics Services, Rare Disease,	156 of 441 35% STRs: 2	19 reviewers	Download
Cancer Predisposition_Paediatric Level 2: Cancer Version 0.131 Panel Types: Victorian Clinical Genetics Services, Rare Disease,	47 of 106 44%	4 reviewers	Download
Cardiomyopathy_Adult_SuperPanel Level 2: Cardiovascular disorders Relevant disorders: Cardiomyopathy, HP:0001638; Abnormality of the myocardium, HP:0001637 Version 1.84 Panel Types: Superpanel, Victorian Clinical Genetics Services, Rare Disease, Royal Melbourne Hospital,	128 of 128 100%	21 reviewers	Download
Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Relevant disorders: Cardiomyopathy, HP:0001638;Abnormality of the myocardium, HP:0001637 Version 0.192 Panel Types: Rare Disease, Victorian Clinical Genetics Services,	75 of 240 31%	19 reviewers	Download
Cataract Level 2: Ophthalmological disorders Relevant disorders: Cataract, HP:0000518 Version 0.366 Panel Types: Victorian Clinical Genetics Services, Rare Disease, Royal Melbourne Hospital,	147 of 199 74%	20 reviewers	Download
Catecholaminergic Polymorphic Ventricular Tachycardia Level 2: Cardiovascular disorders Relevant disorders: Polymorphic ventricular tachycardia HP:0031677 Version 0.35 Panel Types: Victorian Clinical Genetics Services, Rare Disease,	8 of 8 100%	5 reviewers	Download
Central Hypoventilation Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Central hypoventilation HP:0007110 Version 1.5 Panel Types: Victorian Clinical Genetics Services, Rare Disease,	11 of 11 100%	3 reviewers	Download
Cerebellar and Pontocerebellar Hypoplasia Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Aplasia/hypoplasia of the cerebellum HP:0007360;Pontocerebellar atrophy HP:0006879 Version 1.65 Panel Types: Victorian Clinical Genetics Services, Rare Disease, Royal Melbourne Hospital,	111 of 111 100%	22 reviewers	Download
Cerebral amyloid angiopathy Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Cerebral amyloid angiopathy, HP:0011970 Version 1.1 Panel Types: Royal Melbourne Hospital,	7 of 7 100%	1 reviewer	Download
Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Cerebral palsy HP:0100021 Version 1.356 Panel Types: Victorian Clinical Genetics Services, Rare Disease, Royal Melbourne Hospital,	335 of 335 100%	11 reviewers	Download
Cerebral vascular malformations Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Abnormal cerebral vascular morphology HP:0100659 Version 0.39 Panel Types: Rare Disease, Victorian Clinical Genetics Services, Royal Melbourne Hospital,	14 of 103 14%	8 reviewers	Download
CGC_86 Version 0.2	0 of 107 0%	0 reviewers	Download
Choanal atresia Level 2: Dysmorphic and congenital abnormality syndromes Relevant disorders: Choanal atresia HP:0000453 Version 1.5 Panel Types: Rare Disease, Victorian Clinical Genetics Services,	16 of 16 100%	1 reviewer	Download
Cholestasis Level 2: Gastroenterological disorders Relevant disorders: Cholestasis HP:0001396 Version 0.240 Panel Types: Victorian Clinical Genetics Services, Rare Disease, Royal Melbourne Hospital,	78 of 95 82%	9 reviewers	Download
Chondrodysplasia Punctata Level 2: Skeletal disorders Relevant disorders: Chondrodysplasia punctata, MONDO:0019701 Version 1.1 Panel Types: Victorian Clinical Genetics Services, Rare Disease,	7 of 7 100%	1 reviewer	Download
Chromosome Breakage Disorders Level 2: Dysmorphic and congenital abnormality syndromes Relevant disorders: Chromosome breakage HP:0040012 Version 1.19 Panel Types: Victorian Clinical Genetics Services, Rare Disease,	60 of 60 100%	3 reviewers	Download
Chronic granulomatous disease Level 2: Immunological disorders Relevant disorders: Chronic granulomatous disease, MONDO:0018305; Recurrent bacterial infections, HP:0002718 Version 1.3 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services,	8 of 8 100%	2 reviewers	Download
Ciliary Dyskinesia Level 2: Respiratory disorders Relevant disorders: Ciliary dyskinesia HP:0012265;Recurrent respiratory infections HP:0002205 Version 1.39 Panel Types: Victorian Clinical Genetics Services, Rare Disease, Royal Melbourne Hospital,	74 of 74 100%	12 reviewers	Download
Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Relevant disorders: Ciliopathy, MONDO:0005308 Version 1.54 Panel Types: Victorian Clinical Genetics Services, Rare Disease, Royal Melbourne Hospital,	151 of 151 100%	15 reviewers	Download
Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Relevant disorders: Oral cleft HP:0000202 Version 0.252 Panel Types: Rare Disease, Genetic Health Queensland, Victorian Clinical Genetics Services,	107 of 303 35%	16 reviewers	Download
Cobblestone Malformations Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Abnormal cortical gyration HP:0002536 Version 1.1 Panel Types: Victorian Clinical Genetics Services, Australian Genomics, Rare Disease,	13 of 13 100%	4 reviewers	Download
Combined Immunodeficiency Level 2: Immunological disorders Relevant disorders: Combined immunodeficiency, MONDO:0015131; Combined immunodeficiency, HP:0005387 Version 1.66 Panel Types: Victorian Clinical Genetics Services, Melbourne Genomics, Rare Disease, Royal Melbourne Hospital,	151 of 151 100%	8 reviewers	Download
Common deletion and duplication syndromes Version 0.137 Panel Types: Rare Disease, Victorian Clinical Genetics Services,	61 of 61 100% Regions: 61	2 reviewers	Download
Common Variable Immunodeficiency Level 2: Immunological disorders Relevant disorders: Common variable immunodeficiency, MONDO:0015517; Recurrent bacterial infections, HP:0002718; Abnormal immunoglobulin level, HP:0010701 Version 1.12 Panel Types: Victorian Clinical Genetics Services, Melbourne Genomics, Royal Melbourne Hospital,	38 of 38 100%	4 reviewers	Download
Complement Deficiencies Level 2: Immunological disorders Relevant disorders: Abnormality of complement system, HP:0005339 Version 0.73 Panel Types: Victorian Clinical Genetics Services, Melbourne Genomics, Rare Disease,	25 of 34 74%	3 reviewers	Download
Cone-rod Dystrophy Level 2: Ophthalmological disorders Relevant disorders: Retinal dystrophy, HP:0000556 Version 0.54 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services,	23 of 39 59%	8 reviewers	Download
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel Level 2: Renal and urinary tract disorders Relevant disorders: Abnormality of the urinary system HP:0000079 Version 1.85 Panel Types: Superpanel, Victorian Clinical Genetics Services, KidGen, Rare Disease, Royal Melbourne Hospital,	120 of 121 99%	26 reviewers	Download
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic Level 2: Renal and urinary tract disorders Relevant disorders: Abnormality of the urinary system HP:0000079 Version 0.117 Panel Types: Victorian Clinical Genetics Services, Royal Melbourne Hospital,	44 of 45 98%	12 reviewers	Download
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Level 2: Renal and urinary tract disorders Relevant disorders: Abnormality of the urinary system HP:0000079 Version 0.138 Panel Types: Victorian Clinical Genetics Services,	72 of 72 100%	23 reviewers	Download
Congenital diaphragmatic hernia Level 2: Dysmorphic and congenital abnormality syndromes Relevant disorders: Congenital diaphragmatic hernia HP:0000776 Version 1.14 Panel Types: Victorian Clinical Genetics Services, Rare Disease, Royal Melbourne Hospital,	48 of 48 100%	6 reviewers	Download
Congenital Diarrhoea Level 2: Gastroenterological disorders Relevant disorders: Diarrhea HP:0002014 Version 1.13 Panel Types: Victorian Clinical Genetics Services, Rare Disease,	40 of 40 100%	2 reviewers	Download
Congenital Disorders of Glycosylation Level 2: Metabolic disorders Relevant disorders: Abnormal transferrin saturation, HP:0040135 Version 1.44 Panel Types: Victorian Clinical Genetics Services, Rare Disease,	138 of 138 100%	15 reviewers	Download
Congenital Heart Defect Level 2: Cardiovascular disorders Relevant disorders: Abnormal heart morphology HP:0001627 Version 0.418 Panel Types: Victorian Clinical Genetics Services, Rare Disease, Royal Melbourne Hospital,	159 of 200 80%	57 reviewers	Download
Congenital hypothyroidism Level 3: Thyroid disorders Level 2: Endocrine disorders Relevant disorders: Hypothyroidism HP:0000821 Version 0.43 Panel Types: Genetic Health Queensland, Rare Disease, Victorian Clinical Genetics Services,	21 of 40 52%	2 reviewers	Download
Congenital Myasthenia Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Fatiguable weakness HP:0003473;Hypotonia HP:0001252 Version 1.10 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services,	33 of 33 100%	4 reviewers	Download
Congenital nystagmus Level 2: Ophthalmological disorders Relevant disorders: Nystagmus HP:0000639 Version 1.21 Panel Types: Rare Disease, Victorian Clinical Genetics Services, Royal Melbourne Hospital,	84 of 84 100%	18 reviewers	Download
Congenital ophthalmoplegia Level 2: Ophthalmological disorders Relevant disorders: Abnormality of eye movement, HP:0000496 Version 1.8 Panel Types: Rare Disease, Victorian Clinical Genetics Services,	52 of 52 100%	5 reviewers	Download
Congenital Stationary Night Blindness Level 2: Ophthalmological disorders Relevant disorders: Congenital stationary night blindness, HP:0007642; Retinal dystrophy, HP:0000556 Version 0.23 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services,	12 of 20 60%	5 reviewers	Download
Corneal Dystrophy Level 2: Ophthalmological disorders Relevant disorders: Abnormal corneal morphology, HP:0000481 Version 1.10 Panel Types: Victorian Clinical Genetics Services, Rare Disease,	30 of 30 100% STRs: 1	4 reviewers	Download
Craniosynostosis Level 2: Dysmorphic and congenital abnormality syndromes Relevant disorders: Craniosynostosis HP:0001363 Version 1.68 Panel Types: Victorian Clinical Genetics Services, Rare Disease, Royal Melbourne Hospital,	101 of 101 100%	13 reviewers	Download
Cutis Laxa Level 2: Dermatological disorders Relevant disorders: Cutis laxa HP:0000973 Version 1.0 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services,	15 of 15 100%	7 reviewers	Download
Deafness_Isolated Level 2: Hearing and ear disorders Relevant disorders: Hearing impairment, HP:0000365 Version 1.63 Panel Types: Rare Disease, Victorian Clinical Genetics Services, Royal Melbourne Hospital,	150 of 150 100%	18 reviewers	Download
Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Relevant disorders: Hearing impairment, HP:0000365 Version 1.194 Panel Types: Victorian Clinical Genetics Services, Melbourne Genomics, Rare Disease, Royal Melbourne Hospital,	261 of 261 100%	21 reviewers	Download
Defects of innate immunity Level 2: Immunological disorders Relevant disorders: Unusual infections, HP:0032101 Version 0.134 Panel Types: Victorian Clinical Genetics Services, Melbourne Genomics, Rare Disease,	53 of 53 100%	5 reviewers	Download
Desmosomal disorders Level 2: Dermatological disorders Relevant disorders: Abnormal blistering of the skin, HP:0008066; Alopecia, HP:0001596 Version 0.33 Panel Types: Victorian Clinical Genetics Services, Rare Disease,	11 of 13 85%	4 reviewers	Download
Diabetes Insipidus Level 2: Endocrine disorders Relevant disorders: Polydipsia, HP:0001959; Polyuria, HP:0000103 Version 1.3 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services,	3 of 3 100%	2 reviewers	Download
Diamond Blackfan anaemia Level 2: Haematological disorders Relevant disorders: Anemia, HP:0001903; Abnormality of thumb morphology, HP:0001172 Version 1.7 Panel Types: Victorian Clinical Genetics Services, Rare Disease,	26 of 26 100%	4 reviewers	Download
Differences of Sex Development Level 2: Dysmorphic and congenital abnormality syndromes Relevant disorders: Abnormality of the genital system, HP:0000078 Version 0.293 Panel Types: Victorian Clinical Genetics Services, Rare Disease, Royal Melbourne Hospital,	106 of 120 88%	16 reviewers	Download
Dilated Cardiomyopathy Level 2: Cardiovascular disorders Relevant disorders: Dilated cardiomyopathy, HP:0001644 Version 1.33 Panel Types: Victorian Clinical Genetics Services, Rare Disease,	56 of 56 100%	15 reviewers	Download
Disorders of immune dysregulation Level 2: Immunological disorders Relevant disorders: Immune dysregulation, HP:0002958 Version 0.186 Panel Types: Victorian Clinical Genetics Services, Melbourne Genomics, Rare Disease, Royal Melbourne Hospital,	66 of 88 75%	12 reviewers	Download
Dyslipidaemia Level 2: Endocrine disorders Relevant disorders: Abnormal circulating lipid concentration, HP:0003119 Version 0.41 Panel Types: Royal Melbourne Hospital, Rare Disease,	18 of 28 64%	3 reviewers	Download
Dystonia - complex Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Dystonia, HP:0001332 Version 0.235 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services,	112 of 151 74% STRs: 1	16 reviewers	Download
Dystonia - isolated/combined Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Dystonia, HP:0001332 Version 1.37 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services,	41 of 41 100% STRs: 1	11 reviewers	Download
Dystonia_Superpanel Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Dystonia, HP:0001332 Version 1.136 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services, Superpanel,	195 of 244 80% STRs: 2	25 reviewers	Download
Early-onset Dementia Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Cognitive impairment, HP:0100543 Version 1.24 Panel Types: Victorian Clinical Genetics Services, Melbourne Genomics, Royal Melbourne Hospital, Rare Disease,	95 of 95 100% STRs: 6	8 reviewers	Download
Early-onset Parkinson disease Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Abnormality of extrapyramidal motor function, HP:0002071 Version 2.3 Panel Types: Victorian Clinical Genetics Services, Melbourne Genomics, Royal Melbourne Hospital,	130 of 130 100% STRs: 6	14 reviewers	Download
Ectodermal Dysplasia Level 2: Dermatological disorders Relevant disorders: Ectodermal dysplasia, HP:0000968 Version 0.86 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services,	47 of 55 85%	14 reviewers	Download
Ehlers Danlos syndromes Level 2: Cardiovascular disorders Relevant disorders: Joint dislocation, HP:0001373; Poor wound healing, HP:0001058; Uterine rupture, HP:0001058; Abnormality of connective tissue, HP:0003549 Version 1.3 Panel Types: Royal Melbourne Hospital, Rare Disease,	20 of 20 100%	4 reviewers	Download
Epidermolysis bullosa Level 2: Dermatological disorders Relevant disorders: Abnormal blistering of the skin, HP:0008066 Version 1.15 Panel Types: Victorian Clinical Genetics Services, Royal Melbourne Hospital, Rare Disease,	45 of 45 100%	9 reviewers	Download
Episodic Ataxia Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Ataxia, HP:0001251 Version 1.1 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services,	7 of 7 100%	4 reviewers	Download
Eye Anterior Segment Abnormalities Level 2: Ophthalmological disorders Relevant disorders: Abnormal anterior eye segment morphology, HP:0004328 Version 1.12 Panel Types: Victorian Clinical Genetics Services, Rare Disease,	24 of 24 100%	6 reviewers	Download
Facial papules Level 2: Dermatological disorders Relevant disorders: Papule HP:0200034 Version 1.0 Panel Types: Royal Melbourne Hospital, Rare Disease,	22 of 22 100%	1 reviewer	Download
Familial Generalised Epilepsy Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Seizure, HP:0001250 Version 0.14 Panel Types: Royal Melbourne Hospital,	14 of 21 67%	4 reviewers	Download
Familial hypercholesterolaemia Level 2: Cardiovascular disorders Relevant disorders: Abnormal circulating cholesterol concentration, HP:0003107 Version 0.27 Panel Types: Victorian Clinical Genetics Services, Rare Disease, Royal Melbourne Hospital,	10 of 12 83%	6 reviewers	Download
Familial hypoparathyroidism Level 3: Disorders of calcium homeostasis Level 2: Endocrine disorders Relevant disorders: Hypoparathyroidism, HP:0000829 Version 1.3 Panel Types: Royal Melbourne Hospital, Rare Disease,	7 of 7 100%	4 reviewers	Download
Fatty Acid Oxidation Defects Level 2: Metabolic disorders Relevant disorders: Abnormal circulating fatty acid concentration, HP:0004359; Rhabdomyolysis, HP:0003201; Hypoglycaemia, HP:0001943 Version 1.14 Panel Types: Victorian Clinical Genetics Services, Royal Melbourne Hospital, Rare Disease,	33 of 33 100%	3 reviewers	Download
Fetal anomalies Version 1.255 Panel Types: Rare Disease, Victorian Clinical Genetics Services,	2146 of 2146 100%	49 reviewers	Download
Focal Epilepsy Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Focal seizure, HP:0007359 Version 0.14 Panel Types: Royal Melbourne Hospital,	10 of 17 59%	7 reviewers	Download
Foveal Hypoplasia Level 2: Ophthalmological disorders Relevant disorders: Abnormal foveal morphology, HP:0000493 Version 0.8 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services,	2 of 2 100%	2 reviewers	Download
Frontonasal dysplasia Level 2: Dysmorphic and congenital abnormality syndromes Relevant disorders: Midline defect of the nose, HP:0004122; Midline facial cleft, HP:0100629; Cranium bifidum occultum, HP:0004423 Version 1.1 Panel Types: Victorian Clinical Genetics Services, Rare Disease,	7 of 7 100%	1 reviewer	Download
Gastrointestinal neuromuscular disease Level 2: Gastroenterological disorders Relevant disorders: Gastrointestinal dysmotility, HP:0002579 Version 1.24 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services,	41 of 41 100%	9 reviewers	Download
Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Seizure, HP:0001250 Version 1.33 Panel Types: Victorian Clinical Genetics Services, Rare Disease, Royal Melbourne Hospital,	1049 of 1049 100% STRs: 2	54 reviewers	Download
Glaucoma congenital Level 2: Ophthalmological disorders Relevant disorders: Glaucoma, HP:0000501 Version 1.9 Panel Types: Victorian Clinical Genetics Services, Rare Disease,	27 of 27 100%	3 reviewers	Download
Glycogen Storage Diseases Level 2: Metabolic disorders Relevant disorders: Abnormal hepatic glycogen storage, HP:0500030; Abnormal muscle glycogen content, HP:0012269; Visceromegaly, HP:0003271;Hypoglycemia, HP:0001943 Version 1.2 Panel Types: Victorian Clinical Genetics Services, Royal Melbourne Hospital, Rare Disease,	29 of 29 100%	5 reviewers	Download
Growth failure Relevant disorders: Failure to thrive, HP:0001508; Growth delay, HP:0001510 Version 1.76 Panel Types: Rare Disease, Victorian Clinical Genetics Services, Genetic Health Queensland, Royal Melbourne Hospital,	195 of 195 100%	14 reviewers	Download
Haematuria_Alport Level 2: Renal and urinary tract disorders Relevant disorders: Hematuria, HP:0000790; Proteinuria, HP:0000093 Version 1.1 Panel Types: Victorian Clinical Genetics Services, KidGen, Rare Disease, Royal Melbourne Hospital,	15 of 15 100%	3 reviewers	Download
Haem degradation and bilirubin metabolism defects Level 2: Metabolic disorders Relevant disorders: Porphyria, MONDO:0037939;Abnormal circulating porphyrin concentration, HP:0010472;Hyperbilirubinemia, HP:0002904 Version 0.17 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services,	9 of 24 38%	5 reviewers	Download
Hair disorders Level 2: Dermatological disorders Relevant disorders: Abnormal hair morphology, HP:0001595 Version 0.71 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services,	54 of 55 98%	14 reviewers	Download
Hand and foot malformations Level 2: Dysmorphic and congenital abnormality syndromes Relevant disorders: Abnormal hand morphology, HP:0005922; Abnormal foot morphology, HP:0001760 Version 0.74 Panel Types: Royal Melbourne Hospital, Rare Disease,	64 of 99 65%	14 reviewers	Download
Hereditary angioedema Level 2: Immunological disorders Relevant disorders: Angioedema, HP:0100665 Version 1.5 Panel Types: Victorian Clinical Genetics Services, Melbourne Genomics, Rare Disease,	7 of 7 100%	2 reviewers	Download
Hereditary Haemorrhagic Telangiectasia Level 2: Vascular disorders Relevant disorders: Telangiectasia, HP:0001009 Version 1.5 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services,	6 of 6 100%	4 reviewers	Download
Hereditary Neuropathy_CMT - isolated Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Peripheral neuropathy, HP:0009830 Version 1.48 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services,	116 of 116 100%	25 reviewers	Download
Hereditary Neuropathy_CMT_IsolatedAndComplex Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Peripheral neuropathy, HP:0009830 Version 2.31 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services, Superpanel,	260 of 260 100% STRs: 4	28 reviewers	Download
Hereditary Neuropathy - complex Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Peripheral neuropathy, HP:0009830 Version 1.14 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services,	144 of 144 100% STRs: 4	11 reviewers	Download
Hereditary Spastic Paraplegia - adult onset Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Spasticity, HP:0001257 Version 1.11 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services,	60 of 60 100%	7 reviewers	Download
Hereditary Spastic Paraplegia - paediatric Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Spasticity, HP:0001257 Version 1.76 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services,	143 of 143 100%	16 reviewers	Download
Hereditary Spastic Paraplegia Superpanel Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Spasticity, HP:0001257 Version 2.86 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services, Superpanel,	203 of 203 100%	16 reviewers	Download
Heterotaxy Level 2: Dysmorphic and congenital abnormality syndromes 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 Version 1.32 Panel Types: Victorian Clinical Genetics Services, Rare Disease, Royal Melbourne Hospital,	62 of 62 100%	9 reviewers	Download
Hirschsprung disease Level 2: Gastroenterological disorders Relevant disorders: Aganglionic megacolon, HP:0002251 Version 0.25 Panel Types: Victorian Clinical Genetics Services, Rare Disease,	9 of 13 69%	6 reviewers	Download
Holoprosencephaly and septo-optic dysplasia Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Holoprosencephaly, HP:0001360; Septo-optic dysplasia, HP:0100842 Version 1.16 Panel Types: Victorian Clinical Genetics Services,	30 of 30 100%	18 reviewers	Download
Homologous_recombination_deficiency_WTS_UMCCR Level 2: Cancer Version 0.43	0 of 36 0%	0 reviewers	Download
Hydrocephalus_Ventriculomegaly Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Hydrocephalus, HP:0000238; Ventriculomegaly, HP:0002119 Version 0.123 Panel Types: Victorian Clinical Genetics Services, Rare Disease,	45 of 97 46%	7 reviewers	Download
Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Relevant disorders: Hydrops fetalis, HP:0001789 Version 0.313 Panel Types: Victorian Clinical Genetics Services, Rare Disease,	139 of 165 84%	18 reviewers	Download
Hyperammonaemia Level 2: Metabolic disorders Relevant disorders: Hyperammonaemia, HP:0001987 Version 0.10 Panel Types: Rare Disease, Victorian Clinical Genetics Services, Royal Melbourne Hospital,	43 of 43 100%	10 reviewers	Download
Hypercalcaemia Level 2: Endocrine disorders Relevant disorders: Hypercalcemia, HP:0003072 Version 1.2 Panel Types: Victorian Clinical Genetics Services, Royal Melbourne Hospital,	12 of 12 100%	3 reviewers	Download
Hyper-IgE syndrome Level 2: Immunological disorders Relevant disorders: Increased circulating IgE level, HP:0003212 Version 1.5 Panel Types: Victorian Clinical Genetics Services, Rare Disease,	14 of 14 100%	4 reviewers	Download
Hyperinsulinism Level 2: Endocrine disorders Relevant disorders: Hyperinsulinaemia, HP:0000842;Hypoglycemia, HP:0001943 Version 1.16 Panel Types: Victorian Clinical Genetics Services, Royal Melbourne Hospital, Rare Disease, Genetic Health Queensland,	25 of 25 100%	9 reviewers	Download
Hypertension and Aldosterone disorders Level 2: Renal and urinary tract disorders; Endocrine disorders Relevant disorders: Hypertension, HP:0000822; Abnormal circulating aldosterone, HP:0040085 Version 1.14 Panel Types: Victorian Clinical Genetics Services, KidGen, Rare Disease, Genetic Health Queensland,	21 of 21 100%	6 reviewers	Download
Hyperthyroidism Level 2: Endocrine disorders Relevant disorders: Hyperthyroidism HP:0000836 Version 0.23 Panel Types: Rare Disease, Victorian Clinical Genetics Services, Royal Melbourne Hospital,	8 of 8 100%	3 reviewers	Download
Hypertrichosis syndromes Level 2: Dysmorphic and congenital abnormality syndromes Relevant disorders: Hypertrichosis, HP:0000998 Version 0.46 Panel Types: Victorian Clinical Genetics Services, Rare Disease,	15 of 29 52%	4 reviewers	Download
Hypertrophic cardiomyopathy_HCM Level 2: Cardiovascular disorders Relevant disorders: Hypertrophic cardiomyopathy, HP:0001639 Version 0.178 Panel Types: Victorian Clinical Genetics Services, Rare Disease,	55 of 55 100%	14 reviewers	Download
IBMDx study Version 0.25 Panel Types: Victorian Clinical Genetics Services, Research,	100 of 100 100%	6 reviewers	Download
Ichthyosis Level 2: Dermatological disorders Relevant disorders: Ichthyosis, HP:0008064 Version 1.11 Panel Types: Victorian Clinical Genetics Services, Royal Melbourne Hospital, Rare Disease,	57 of 57 100%	11 reviewers	Download
Immune_markers_WTS_UMCCR Level 2: Cancer Version 0.75	0 of 71 0%	0 reviewers	Download
Immunological disorders_SuperPanel Level 2: Immunological disorders Relevant disorders: Abnormality of the immune system, HP:0002715 Version 9.284 Panel Types: Superpanel, Victorian Clinical Genetics Services, Royal Melbourne Hospital,	681 of 759 90%	28 reviewers	Download
Imprinting disorders Version 1.3 Panel Types: Rare Disease, Victorian Clinical Genetics Services,	25 of 25 100%	2 reviewers	Download
Incidentalome Version 0.301 Panel Types: Victorian Clinical Genetics Services,	138 of 146 95% STRs: 2	23 reviewers	Download
Incidentalome_PREGEN_DRAFT Version 0.43 Panel Types: New South Wales Health Pathology,	86 of 173 50%	1 reviewer	Download
Inflammatory bowel disease Level 2: Gastroenterological disorders Relevant disorders: Gastrointestinal inflammation, HP:0004386 Version 0.121 Panel Types: Victorian Clinical Genetics Services, Rare Disease,	46 of 84 55%	11 reviewers	Download
Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Intellectual disability, HP:0001249; Neurodevelopmental delay, HP:0012758 Version 0.6063 Panel Types: Genetic Health Queensland, Victorian Clinical Genetics Services, Rare Disease, Royal Melbourne Hospital,	2061 of 2281 90% STRs: 3	103 reviewers	Download
Interstitial Lung Disease Level 2: Respiratory disorders Version 1.0 Panel Types: Australian Genomics, Research,	75 of 75 100%	5 reviewers	Download
Joubert syndrome and other neurological ciliopathies Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Molar tooth sign on MRI, HP:0002419; Joubert syndrome, MONDO:0018772 Version 1.27 Panel Types: Victorian Clinical Genetics Services, Rare Disease, Royal Melbourne Hospital,	68 of 68 100%	8 reviewers	Download
Kabuki syndrome Level 2: Dysmorphic and congenital abnormality syndromes Relevant disorders: Kabuki syndrome, MONDO:0016512 Version 0.15 Panel Types: Victorian Clinical Genetics Services, Rare Disease,	3 of 8 38%	1 reviewer	Download
Kidneyome_SuperPanel Level 2: Renal and urinary tract disorders Relevant disorders: Abnormality of the kidney, HP:0000077 Version 8.61 Panel Types: Superpanel, Victorian Clinical Genetics Services, KidGen, Royal Melbourne Hospital, Genetic Health Queensland,	493 of 497 99%	37 reviewers	Download
Leukodystrophy - adult onset Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Leukodystrophy, HP:0002415; Abnormal cerebral white matter morphology, HP:0002500; Abnormal CNS myelination, HP:0011400 Version 0.140 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services,	103 of 103 100% STRs: 2	11 reviewers	Download
Leukodystrophy - paediatric Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Leukodystrophy, HP:0002415; Abnormal cerebral white matter morphology, HP:0002500; Abnormal CNS myelination, HP:0011400 Version 0.308 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services,	156 of 210 74%	20 reviewers	Download
Leukodystrophy_Superpanel Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Leukodystrophy, HP:0002415; Abnormal cerebral white matter morphology, HP:0002500; Abnormal CNS myelination, HP:0011400 Version 0.453 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services, Australian Genomics, Superpanel,	259 of 313 83% STRs: 2	25 reviewers	Download
Limb and Digital Malformations SuperPanel Level 2: Dysmorphic and congenital abnormality syndromes Relevant disorders: Limb abnormality, HP:0040064 Version 0.75 Panel Types: Royal Melbourne Hospital, Rare Disease, Superpanel, Victorian Clinical Genetics Services,	261 of 297 88%	23 reviewers	Download
Limb-Girdle Muscular Dystrophy and Distal Myopathy Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Limb-girdle muscular dystrophy, MONDO:0016971; Proximal muscle weakness, HP:0003701; Distal myopathy MONDO:0018949 Version 1.27 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services,	102 of 102 100% STRs: 5	18 reviewers	Download
Lipodystrophy_Lipoatrophy Level 2: Dysmorphic and congenital abnormality syndromes Relevant disorders: Lipodystrophy, HP:0009125 Version 1.17 Panel Types: Victorian Clinical Genetics Services, Rare Disease,	33 of 33 100%	5 reviewers	Download
Lissencephaly and Band Heterotopia Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Lissencephaly HP:0001339;Subcortical band heterotopia HP:0032409 Version 1.19 Panel Types: Victorian Clinical Genetics Services, Australian Genomics, Rare Disease, Royal Melbourne Hospital,	44 of 44 100%	11 reviewers	Download
Liver Failure_Paediatric Level 2: Gastroenterological disorders Relevant disorders: Liver failure, HP:0001399 Version 1.24 Panel Types: Rare Disease, Victorian Clinical Genetics Services,	66 of 66 100%	5 reviewers	Download
Liverome Superpanel Level 2: Gastroenterological disorders Relevant disorders: Abnormality of the liver, HP:0001392 Version 1.9 Panel Types: Royal Melbourne Hospital, Melbourne Genomics, Victorian Clinical Genetics Services,	166 of 198 84%	15 reviewers	Download
Long QT Syndrome Level 2: Cardiovascular disorders Relevant disorders: Prolonged QT interval, HP:0001657 Version 0.61 Panel Types: Victorian Clinical Genetics Services, Rare Disease,	17 of 17 100%	5 reviewers	Download
Lymphoedema_nonsyndromic Level 2: Cardiovascular disorders Relevant disorders: Lymphedema, HP:0001004 Version 0.39 Panel Types: Victorian Clinical Genetics Services, Rare Disease,	11 of 22 50%	5 reviewers	Download
Lymphoedema_syndromic Level 3: Lymphatic Disorders Level 2: Cardiovascular disorders Relevant disorders: Lymphedema, HP:0001004 Version 0.12 Panel Types: Rare Disease, Victorian Clinical Genetics Services,	6 of 48 12%	1 reviewer	Download
Lysosomal Storage Disorder Level 2: Metabolic conditions Relevant disorders: Lysosomal storage disorder, MONDO:0002561; Visceromegaly, HP:0003271 Version 1.11 Panel Types: Victorian Clinical Genetics Services, Rare Disease,	60 of 73 82%	6 reviewers	Download
Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109 Panel Types: Rare Disease, Victorian Clinical Genetics Services, New South Wales Health Pathology, PathWest,	111 of 1333 8%	8 reviewers	Download
Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Relevant disorders: Macrocephaly, HP:0000256; Megalencephaly, HP:0001355 Version 0.140 Panel Types: Victorian Clinical Genetics Services,	52 of 147 35%	17 reviewers	Download
Macular Dystrophy/Stargardt Disease Level 2: Ophthalmological disorders Relevant disorders: Macular dystrophy, HP:0007754 Version 0.45 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services,	17 of 35 49%	5 reviewers	Download
Malformations of cortical development_Superpanel Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Abnormal cerebral cortex morphology, HP:0002538 Version 4.57 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services, Superpanel,	161 of 172 94%	23 reviewers	Download
Malignant Hyperthermia Susceptibility Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Malignant hyperthermia, HP:0002047; Rhabdomyolysis, HP:0003201 Version 1.8 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services,	7 of 7 100%	3 reviewers	Download
Mandibulofacial Acrofacial dysostosis Level 2: Dysmorphic and congenital abnormality syndromes Relevant disorders: Craniofacial dysostosis, HP:0004439 Version 1.9 Panel Types: Victorian Clinical Genetics Services, Rare Disease,	33 of 33 100%	4 reviewers	Download
Maturity-onset Diabetes of the Young Level 2: Endocrine disorders Relevant disorders: Diabetes mellitus, HP:0000819 Version 1.21 Panel Types: Royal Melbourne Hospital, Rare Disease,	19 of 19 100%	9 reviewers	Download
Medulloblastoma Level 2: Cancer susceptibility Relevant disorders: Medulloblastoma, HP:0002885 Version 0.10 Panel Types: Cancer Germline, SA Pathology, Adult Genetics Unit, Royal Adelaide Hospital,	2 of 6 33%	1 reviewer	Download
Melanoma Level 2: Cancer susceptibility Relevant disorders: Melanoma, HP:0002861 Version 0.4 Panel Types: Cancer Germline, SA Pathology, Adult Genetics Unit, Royal Adelaide Hospital,	0 of 3 0%	0 reviewers	Download
Mendelian susceptibility to Immune Disorders Level 2: Immunological disorders Relevant disorders: Unusual infection, HP:0032101 Version 0.49 Panel Types: Victorian Clinical Genetics Services, Melbourne Genomics, Rare Disease,	19 of 19 100%	3 reviewers	Download
Mendeliome Version 1.1902 Panel Types: Victorian Clinical Genetics Services, Rare Disease, Royal Melbourne Hospital,	5382 of 5382 100% STRs: 22	69 reviewers	Download
Metabolic Disorders Superpanel Level 2: Metabolic disorders Relevant disorders: Abnormality of metabolism/homeostasis, HP:0001939 Version 8.379 Panel Types: Royal Melbourne Hospital, Rare Disease, Superpanel, Victorian Clinical Genetics Services,	1155 of 1358 85% STRs: 1	44 reviewers	Download
Metal Metabolism Disorders Level 2: Metabolic disorders Relevant disorders: Abnormality of iron homeostasis, HP:0011031;Abnormal blood transition element cation concentration, HP:0011030 Version 0.45 Panel Types: Rare Disease, Victorian Clinical Genetics Services, Royal Melbourne Hospital,	11 of 49 22%	5 reviewers	Download
Metaphyseal dysplasias Level 3: Skeletal dysplasias Level 2: Skeletal disorders Relevant disorders: Metaphyseal dysplasia, HP:0100255 Version 0.5 Panel Types: Rare Disease, Victorian Clinical Genetics Services,	2 of 12 17%	2 reviewers	Download
Microcephalic Primordial Dwarfism and Slender bone dysplasias Level 3: Skeletal dysplasias Level 2: Skeletal disorders Relevant disorders: Slender long bone, HP:0003100; Microcephalic primordial dwarfism, MONDO:0017950 Version 0.29 Panel Types: Rare Disease, Victorian Clinical Genetics Services,	10 of 21 48%	5 reviewers	Download
Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Relevant disorders: Microcephaly, HP:0000252 Version 1.269 Panel Types: Victorian Clinical Genetics Services, Rare Disease, Royal Melbourne Hospital,	334 of 334 100%	35 reviewers	Download
Mirror movements Level 2: Neurology and neurodevelopmental disorders Version 1.0 Panel Types: Royal Melbourne Hospital, Rare Disease,	4 of 4 100%	1 reviewer	Download
Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 1.46 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services,	145 of 145 100% STRs: 1	12 reviewers	Download
Mitochondrial disease Level 2: Metabolic disorders Relevant disorders: Increased serum lactate, HP:0002151; Abnormality of mitochondrial metabolism, HP:0003287 Version 0.927 Panel Types: Victorian Clinical Genetics Services, Australian Genomics, Royal Melbourne Hospital,	397 of 407 98%	35 reviewers	Download
Monogenic Diabetes Level 2: Endocrine disorders Relevant disorders: Diabetes mellitus, HP:0000819 Version 0.134 Panel Types: Rare Disease, Victorian Clinical Genetics Services, Royal Melbourne Hospital,	77 of 77 100%	9 reviewers	Download
Mosaic skin disorders Level 2: Dermatological disorders Relevant disorders: Abnormality of skin pigmentation, HP:0001000 Version 1.12 Panel Types: Rare Disease, Victorian Clinical Genetics Services, Tasmanian Clinical Genetics Service, Royal Melbourne Hospital,	42 of 42 100%	4 reviewers	Download
Motor Neurone Disease Level 2: Neurology and neurodevelopmental disorders Version 1.24 Panel Types: Victorian Clinical Genetics Services, Royal Melbourne Hospital, Rare Disease,	78 of 78 100% STRs: 4	19 reviewers	Download
Multiple epiphyseal dysplasia and pseudoachondroplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Relevant disorders: Multiple epiphyseal dysplasia, HP:0002654 Version 0.11 Panel Types: Rare Disease, Victorian Clinical Genetics Services, Royal Melbourne Hospital,	3 of 8 38%	5 reviewers	Download
Multiple joint dislocations and laxity Level 3: Skeletal dysplasias Level 2: Skeletal disorders Relevant disorders: Joint dislocation, HP:0001373; Joint laxity, HP:0001388 Version 0.9 Panel Types: Rare Disease, Victorian Clinical Genetics Services,	15 of 16 94%	5 reviewers	Download
Multiple pterygium syndrome_Fetal akinesia sequence Level 2: Dysmorphic and congenital abnormality syndromes Relevant disorders: Pterygium, HP:0001059; Akinesia, HP:0002304; Fetal akinesia sequence, HP:0001989 Version 1.5 Panel Types: Victorian Clinical Genetics Services, Rare Disease,	27 of 27 100%	2 reviewers	Download
Muscular dystrophy and myopathy_Paediatric Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Muscular dystrophy, HP:0003560; Elevated circulating creatine kinase concentration, HP:0003236; Myopathy, HP:0003198 Version 1.33 Panel Types: Victorian Clinical Genetics Services, Rare Disease, Royal Melbourne Hospital,	117 of 117 100%	18 reviewers	Download
Myopathy Superpanel Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Myopathy, HP:0003198; Muscle weakness, HP:0001324 Version 4.72 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services, Superpanel,	338 of 338 100% STRs: 5	33 reviewers	Download
NCGC Version 0.2	0 of 148 0%	0 reviewers	Download
Neurodegeneration with brain iron accumulation Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Iron accumulation in brain, HP:0012675 Version 0.35 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services,	14 of 23 61%	5 reviewers	Download
Neurodegenerative disease - adult onset Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Neurodegeneration, HP:0002180 Version 6.29 Panel Types: Royal Melbourne Hospital, Rare Disease, Superpanel, Victorian Clinical Genetics Services,	489 of 489 100% STRs: 36	35 reviewers	Download
Neuromuscular Superpanel Level 2: Neurology and neurodevelopmental disorders Version 3.180 Panel Types: Royal Melbourne Hospital, Superpanel, Victorian Clinical Genetics Services,	1666 of 1784 93% STRs: 35	60 reviewers	Download
Neurotransmitter Defects Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Abnormal CSF metabolite concentration, HP:0025454 Version 1.7 Panel Types: Victorian Clinical Genetics Services, Rare Disease,	29 of 41 71%	1 reviewer	Download
Nucleotide metabolism disorders Level 2: Metabolic disorders Version 0.1 Panel Types: Royal Melbourne Hospital, Rare Disease,	0 of 43 0%	0 reviewers	Download
Ocular and Oculocutaneous Albinism Level 2: Ophthalmological disorders Relevant disorders: Albinism HP:0001022; Ocular albinism, HP:0001107 Version 1.11 Panel Types: Victorian Clinical Genetics Services, Rare Disease,	24 of 24 100%	9 reviewers	Download
Oligodontia Level 2: Dysmorphic and congenital abnormality syndromes Relevant disorders: Abnormal number of teeth HP:0006483 Version 0.29 Panel Types: Victorian Clinical Genetics Services, Rare Disease, Royal Melbourne Hospital,	11 of 13 85%	8 reviewers	Download
Optic Atrophy Level 2: Ophthalmological disorders Relevant disorders: Optic atrophy, HP:0000648 Version 1.32 Panel Types: Victorian Clinical Genetics Services, Rare Disease, Royal Melbourne Hospital,	57 of 57 100%	16 reviewers	Download
Osteogenesis Imperfecta and Osteoporosis Level 2: Skeletal disorders Relevant disorders: Increased susceptibility to fractures, HP:0002659 Version 0.114 Panel Types: Victorian Clinical Genetics Services, Royal Melbourne Hospital, Rare Disease,	39 of 44 89%	11 reviewers	Download
Osteopetrosis Level 2: Skeletal disorders Relevant disorders: Increased bone mineral density, HP:0011001 Version 0.34 Panel Types: Victorian Clinical Genetics Services, Royal Melbourne Hospital,	15 of 25 60%	4 reviewers	Download
Overgrowth Level 2: Dysmorphic and congenital abnormality syndromes Relevant disorders: Overgrowth, HP:0001548; Tall stature, HP:0000098; Increased body weight, HP:0004324 Version 1.12 Panel Types: Victorian Clinical Genetics Services, Rare Disease, Royal Melbourne Hospital,	31 of 31 100%	3 reviewers	Download
Pain syndromes Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Pain, HP:0012531 Version 0.34 Panel Types: Rare Disease, Victorian Clinical Genetics Services, Royal Melbourne Hospital,	17 of 30 57%	5 reviewers	Download
Palmoplantar Keratoderma and Erythrokeratoderma Level 2: Dermatological disorders Relevant disorders: Palmoplantar keratoderma, HP:0000982; Erythrokeratoderma, MONDO:0019270 Version 0.132 Panel Types: Victorian Clinical Genetics Services, Royal Melbourne Hospital, Rare Disease, Genetic Health Queensland,	61 of 69 88%	11 reviewers	Download
Pancreatitis Level 2: Gastroenterological disorders Relevant disorders: Pancreatitis, HP:0001733 Version 1.5 Panel Types: Victorian Clinical Genetics Services, Rare Disease, Royal Melbourne Hospital,	9 of 9 100%	2 reviewers	Download
Paroxysmal Dyskinesia Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Paroxysmal dyskinesia, HP:0007166 Version 0.131 Panel Types: Victorian Clinical Genetics Services, Rare Disease,	42 of 52 81%	8 reviewers	Download
Periventricular Grey Matter Heterotopia Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Grey matter heterotopia, HP:0002282 Version 1.2 Panel Types: Victorian Clinical Genetics Services, Royal Melbourne Hospital, Rare Disease,	12 of 12 100%	5 reviewers	Download
Peroxisomal Disorders Level 2: Metabolic disorders Relevant disorders: Peroxisomal disease, MONDO:0019053 Version 0.53 Panel Types: Victorian Clinical Genetics Services, Rare Disease,	14 of 32 44%	6 reviewers	Download
Phagocyte Defects Level 2: Immunological disorders Relevant disorders: Unusual infection, HP:0032101 Version 1.29 Panel Types: Victorian Clinical Genetics Services, Melbourne Genomics, Rare Disease,	53 of 53 100%	6 reviewers	Download
Pharmacogenomics_Paediatric Level 2: Screening Version 0.50 Panel Types: Australian Genomics,	17 of 17 100%	2 reviewers	Download
Photosensitivity Syndromes Level 2: Dysmorphic and congenital abnormality syndromes Relevant disorders: Cutaneous photosensitivity, HP:0000992 Version 1.8 Panel Types: Victorian Clinical Genetics Services, Rare Disease, Royal Melbourne Hospital,	27 of 27 100%	6 reviewers	Download
Pierre Robin Sequence Level 2: Dysmorphic and congenital abnormality syndromes Relevant disorders: Pierre Robin sequence, HP:0000201 Version 0.47 Panel Types: Victorian Clinical Genetics Services,	16 of 53 30%	4 reviewers	Download
Pituitary hormone deficiency Level 2: Endocrine disorders Relevant disorders: Hypopituitarism, HP:0040075 Version 0.34 Panel Types: Rare Disease, Victorian Clinical Genetics Services,	15 of 56 27%	6 reviewers	Download
Pneumothorax Level 3: Structural lung disorders Level 2: Respiratory disorders Relevant disorders: Pneumothorax, HP:0002107 Version 0.11 Panel Types: Royal Melbourne Hospital, Rare Disease,	5 of 17 29%	1 reviewer	Download
Polycystic liver disease Level 2: Gastroenterological disorders Relevant disorders: Polycystic liver disease, HP:0006557 Version 1.8 Panel Types: Genetic Health Queensland, Rare Disease, Victorian Clinical Genetics Services, Royal Melbourne Hospital,	13 of 13 100%	3 reviewers	Download
Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Relevant disorders: Polydactyly, HP:0010442 Version 0.276 Panel Types: Victorian Clinical Genetics Services, Rare Disease,	137 of 138 99%	13 reviewers	Download
Polymicrogyria and Schizencephaly Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Polymicrogyria, HP:0002126;Schizencephaly, HP:0010636 Version 0.189 Panel Types: Victorian Clinical Genetics Services, Rare Disease, Australian Genomics,	72 of 83 87%	16 reviewers	Download
Predominantly Antibody Deficiency Level 2: Immunological disorders Relevant disorders: Decreased immunoglobulin level, HP:0041078 Version 0.135 Panel Types: Victorian Clinical Genetics Services, Melbourne Genomics, Rare Disease,	43 of 52 83%	4 reviewers	Download
Prepair 1000+ Level 2: Screening Version 1.9 Panel Types: Victorian Clinical Genetics Services,	172 of 1371 13%	13 reviewers	Download
Prepair 500+ Level 2: Screening Version 1.1 Panel Types: Victorian Clinical Genetics Services,	1 of 629 0%	1 reviewer	Download
Primary Ovarian Insufficiency_Premature Ovarian Failure Level 3: Gonadal and sex development disorders Level 2: Endocrine disorders Relevant disorders: Premature ovarian insufficiency, HP:0008209 Version 0.328 Panel Types: Royal Melbourne Hospital, Rare Disease, Genetic Health Queensland, Victorian Clinical Genetics Services,	136 of 151 90% STRs: 1	16 reviewers	Download
Progressive Myoclonic Epilepsy Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Myoclonic seizure, HP:0032794 Version 0.19 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services,	14 of 33 42%	4 reviewers	Download
Progressive Neurological Conditions Level 2: Neurology and neurodevelopmental disorders Version 17.94 Panel Types: Royal Melbourne Hospital, Rare Disease, Superpanel,	3810 of 4105 93% STRs: 52	73 reviewers	Download
Proteinuria Level 2: Renal and urinary tract disorders Relevant disorders: Proteinuria HP:0000093 Version 0.225 Panel Types: Victorian Clinical Genetics Services, KidGen, Rare Disease, Royal Melbourne Hospital,	86 of 86 100%	21 reviewers	Download
Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy Level 2: Endocrine disorders Relevant disorders: Pseudohypoparathyroidism, HP:0000093 Version 0.13 Panel Types: Victorian Clinical Genetics Services, Rare Disease, Royal Melbourne Hospital,	3 of 10 30%	1 reviewer	Download
Pulmonary Arterial Hypertension Level 2: Cardiovascular disorders Relevant disorders: Pulmonary arterial hypertension, HP:0002092 Version 1.39 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services,	33 of 33 100%	7 reviewers	Download
Pulmonary Fibrosis_Interstitial Lung Disease Level 2: Respiratory disorders Relevant disorders: Pulmonary fibrosis, HP:0002206; Abnormal pulmonary interstitial morphology, HP:0006530 Version 0.57 Panel Types: Victorian Clinical Genetics Services, Rare Disease, Royal Melbourne Hospital,	38 of 39 97%	10 reviewers	Download
Radial Ray Abnormalities Level 2: Dysmorphic and congenital abnormality syndromes Relevant disorders: Abnormality of radial ray, HP:0410049 Version 1.10 Panel Types: Victorian Clinical Genetics Services, Rare Disease,	60 of 60 100%	5 reviewers	Download
Rasopathy Level 2: Dysmorphic and congenital abnormality syndromes Relevant disorders: Rasopathy, MONDO:0021060 Version 0.105 Panel Types: Victorian Clinical Genetics Services, Rare Disease, Royal Melbourne Hospital,	28 of 28 100%	7 reviewers	Download
Red cell disorders Level 2: Haematological disorders Relevant disorders: Abnormal erythrocyte morphology, HP:0001877 Version 1.24 Panel Types: Rare Disease, Victorian Clinical Genetics Services,	110 of 110 100%	5 reviewers	Download
Regression Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Developmental regression, HP:0002376 Version 0.556 Panel Types: Victorian Clinical Genetics Services, Rare Disease,	190 of 428 44% STRs: 3	22 reviewers	Download
Renal Amyloidosis Level 2: Renal and urinary tract disorders Relevant disorders: Renal amyloidosis, HP:0001917 Version 0.22 Panel Types: Victorian Clinical Genetics Services, KidGen,	5 of 5 100%	2 reviewers	Download
Renal cancer Level 2: Cancer susceptibility Relevant disorders: Renal neoplasm, HP:0009726 Version 0.4 Panel Types: Cancer Germline, SA Pathology, Adult Genetics Unit, Royal Adelaide Hospital,	0 of 10 0%	0 reviewers	Download
Renal Ciliopathies and Nephronophthisis Level 2: Renal and urinary tract disorders Relevant disorders: Abnormality of renal medullary morphology, HP:0025361; Renal cyst, HP:0000107 Version 1.22 Panel Types: Victorian Clinical Genetics Services, KidGen, Rare Disease, Royal Melbourne Hospital,	97 of 97 100%	8 reviewers	Download
Renal Cystic Disease_SuperPanel Level 2: Renal and urinary tract disorders Relevant disorders: Renal cyst, HP:0000107 Version 1.54 Panel Types: Superpanel, Victorian Clinical Genetics Services, KidGen, Royal Melbourne Hospital,	117 of 120 98%	11 reviewers	Download
Renal Glomerular Disease_SuperPanel Level 2: Renal and urinary tract disorders Relevant disorders: Abnormal glomerular filtration rate, HP:0012212; Hematuria, HP:0000790;Proteinuria, HP:0000093 Version 1.79 Panel Types: Superpanel, Victorian Clinical Genetics Services, KidGen, Royal Melbourne Hospital,	101 of 101 100%	21 reviewers	Download
Renal Macrocystic Disease Level 2: Renal and urinary tract disorders Relevant disorders: Renal cyst, HP:0000107 Version 0.69 Panel Types: Victorian Clinical Genetics Services, KidGen, Rare Disease, Royal Melbourne Hospital, Genetic Health Queensland,	20 of 23 87%	7 reviewers	Download
Renal Tubulointerstitial Disease Level 2: Renal and urinary tract disorders Relevant disorders: Abnormal tubulointerstitial morphology, HP:0001969 Version 1.3 Panel Types: Victorian Clinical Genetics Services, KidGen, Rare Disease, Royal Melbourne Hospital,	7 of 7 100%	2 reviewers	Download
Renal Tubulopathies and related disorders Level 2: Renal and urinary tract disorders Relevant disorders: Renal tubular dysfunction, HP:0000124; Nephrolithiasis, HP:0000787; Abnormal circulating aldosterone, HP:0040085 Version 1.14 Panel Types: Genetic Health Queensland, Royal Melbourne Hospital, Victorian Clinical Genetics Services, KidGen,	131 of 131 100%	19 reviewers	Download
Repeat Disorders Version 0.167 Panel Types: Royal Melbourne Hospital, Rare Disease, Australian Genomics,	75 of 75 100% STRs: 75	1 reviewer	Download
Retinal Disorders Superpanel Level 2: Ophthalmological disorders Relevant disorders: Abnormal retinal morphology, HP:0000479 Version 6.220 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services, Superpanel,	412 of 507 81% STRs: 1	34 reviewers	Download
Retinitis pigmentosa_Autosomal Dominant Level 2: Ophthalmological disorders Relevant disorders: Abnormal retinal morphology, HP:0000479 Version 0.57 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services,	23 of 36 64%	5 reviewers	Download
Retinitis pigmentosa_Autosomal Recessive/X-linked Level 2: Ophthalmological disorders Relevant disorders: Abnormal retinal morphology, HP:0000479 Version 0.147 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services,	73 of 112 65%	14 reviewers	Download
Retinitis Pigmentosa Superpanel Level 2: Ophthalmological disorders Relevant disorders: Abnormal retinal morphology, HP:0000479 Version 0.206 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services, Superpanel,	96 of 148 65%	16 reviewers	Download
Rhabdomyolysis and Metabolic Myopathy Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Rhabdomyolysis, HP:0003201;Exercise intolerance, HP:0003546;Metabolic myopathy, MONDO:0020123 Version 1.6 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services,	99 of 99 100%	21 reviewers	Download
Sarcoma Level 2: Cancer susceptibility Relevant disorders: Sarcoma, HP:0100242 Version 0.3 Panel Types: Cancer Germline, SA Pathology, Adult Genetics Unit, Royal Adelaide Hospital,	0 of 4 0%	0 reviewers	Download
Schwannomatosis Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Schwannoma, HP:0100008 Version 0.16 Panel Types: Royal Melbourne Hospital, Rare Disease,	4 of 8 50%	3 reviewers	Download
Severe Combined Immunodeficiency (absent T absent B cells) Level 2: Immunological disorders Relevant disorders: Severe combined immunodeficiency, HP:0004430 Version 1.7 Panel Types: Victorian Clinical Genetics Services, Melbourne Genomics, Rare Disease,	13 of 13 100%	5 reviewers	Download
Severe Combined Immunodeficiency (absent T present B cells) Level 2: Immunological disorders Relevant disorders: Severe combined immunodeficiency, HP:0004430 Version 1.6 Panel Types: Victorian Clinical Genetics Services, Melbourne Genomics, Rare Disease,	13 of 13 100%	4 reviewers	Download
Severe early-onset obesity Level 2: Endocrine disorders Relevant disorders: Obesity, HP:0001513 Version 1.10 Panel Types: Rare Disease, Victorian Clinical Genetics Services,	52 of 52 100%	8 reviewers	Download
Short Long Bones with Advanced Carpal Bone Age Level 2: Skeletal disorders Version 0.1 Panel Types: Victorian Clinical Genetics Services,	0 of 9 0%	0 reviewers	Download
Short QT syndrome Level 2: Cardiovascular disorders Relevant disorders: Shortened QT interval, HP:0012232 Version 1.7 Panel Types: Victorian Clinical Genetics Services,	9 of 9 100%	3 reviewers	Download
Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy Level 2: Skeletal disorders Relevant disorders: Short rib, HP:0000773; Polydactyly, HP:0010442; Bell-shaped thorax, HP:0001591 Version 1.15 Panel Types: Victorian Clinical Genetics Services, Rare Disease,	37 of 37 100%	6 reviewers	Download
Sick sinus syndrome Level 2: Cardiovascular disorders Relevant disorders: Sick sinus syndrome, HP:0011704 Version 1.4 Panel Types: Victorian Clinical Genetics Services, Rare Disease,	4 of 4 100%	2 reviewers	Download
Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Relevant disorders: Skeletal dysplasia, HP:0002652 Version 0.285 Panel Types: Victorian Clinical Genetics Services, Royal Melbourne Hospital,	579 of 605 96% Regions: 6	36 reviewers	Download
Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.223 Panel Types: Victorian Clinical Genetics Services, Melbourne Genomics,	155 of 155 100%	18 reviewers	Download
Skeletal Muscle Channelopathies Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Periodic paralysis, HP:0003768; Myotonia, HP:0002486 Version 1.1 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services,	13 of 13 100%	4 reviewers	Download
Speech apraxia Level 2: Neurology and neurodevelopmental disorders Version 1.0 Panel Types: Rare Disease, Victorian Clinical Genetics Services,	33 of 33 100%	2 reviewers	Download
Spondylocostal Dysostosis Level 2: Skeletal disorders Relevant disorders: Spondylocostal dysostosis, MONDO:0000359 Version 0.10 Panel Types: Victorian Clinical Genetics Services, Rare Disease,	2 of 6 33%	2 reviewers	Download
Stickler Syndrome Level 2: Ophthalmological disoders Relevant disorders: Myopia, HP:0000545; Retinal detachment, HP:0000541; Cleft palate, HP:0000175 Version 1.8 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services,	10 of 10 100%	5 reviewers	Download
Stroke Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Stroke, HP:0001297 Version 1.16 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services,	57 of 57 100%	7 reviewers	Download
Susceptibility to Fungal Infections Level 2: Immunological disorders Relevant disorders: Recurrent fungal infections, HP:0002841 Version 1.7 Panel Types: Victorian Clinical Genetics Services, Melbourne Genomics, Rare Disease,	10 of 10 100%	2 reviewers	Download
Susceptibility to Viral Infections Level 2: Immunological disorders Relevant disorders: Recurrent viral infections, HP:0004429; Severe viral infection, HP:0031691 Version 0.117 Panel Types: Victorian Clinical Genetics Services, Melbourne Genomics, Rare Disease,	47 of 47 100%	5 reviewers	Download
Syndromic Retinopathy Level 2: Ophthalmological disorders Relevant disorders: Retinopathy, HP:0000488 Version 0.209 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services,	123 of 124 99% STRs: 1	19 reviewers	Download
Systemic Autoinflammatory Disease_Periodic Fever Level 2: Immunological disorders Relevant disorders: Fever HP:0001945 Version 1.47 Panel Types: Victorian Clinical Genetics Services, Melbourne Genomics, Rare Disease, Royal Melbourne Hospital,	83 of 83 100%	12 reviewers	Download
TCGA_PANCAN_2018 Version 0.2	0 of 152 0%	0 reviewers	Download
Transplant Co-Morbidity Superpanel Level 2: Screening Version 0.18 Panel Types: Royal Melbourne Hospital, Melbourne Genomics,	15 of 278 5%	2 reviewers	Download
Tremors_Superpanel Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Tremor HP:0001337 Version 3.9 Panel Types: Royal Melbourne Hospital, Superpanel,	325 of 374 87% STRs: 8	30 reviewers	Download
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Focal cortical dysplasia HP:0032046;Hemimegalencephaly HP:0007206 Version 0.48 Panel Types: Victorian Clinical Genetics Services, Australian Genomics, Rare Disease, Royal Melbourne Hospital,	12 of 12 100%	10 reviewers	Download
Tubulinopathies Level 2: Neurology and neurodevelopmental disorders Relevant disorders: Abnormal cortical gyration, HP:0002536 Version 1.1 Panel Types: Victorian Clinical Genetics Services, Australian Genomics, Rare Disease,	8 of 8 100%	2 reviewers	Download
Usher Syndrome Level 2: Ophthalmological disorders Relevant disorders: Usher syndrome, MONDO:0019501 Version 1.5 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services,	20 of 20 100%	5 reviewers	Download
Vascular Malformations_Germline Level 2: Cardiovascular disorders Relevant disorders: Abnormal vascular morphology HP:0025015 Version 1.11 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services,	41 of 41 100%	8 reviewers	Download
Vascular Malformations_Somatic Level 2: Cardiovascular disorders Relevant disorders: Abnormal vascular morphology HP:0025015 Version 1.13 Panel Types: Rare Disease, Victorian Clinical Genetics Services, Royal Melbourne Hospital,	25 of 25 100%	5 reviewers	Download
Vascular Malformations SuperPanel Level 2: Cardiovascular disorders Relevant disorders: Abnormal vascular morphology HP:0025015 Version 1.52 Panel Types: Royal Melbourne Hospital, Superpanel, Victorian Clinical Genetics Services,	125 of 178 70%	13 reviewers	Download
Vasculitis Level 2: Immunological disorders Relevant disorders: Vasculitis HP:0002633 Version 0.82 Panel Types: Victorian Clinical Genetics Services, Rare Disease,	23 of 117 20%	9 reviewers	Download
Ventricular Fibrillation Level 2: Cardiovascular disorders Relevant disorders: Ventricular arrhythmia HP:0004308 Version 0.5 Panel Types: Victorian Clinical Genetics Services,	1 of 1 100%	1 reviewer	Download
Vitamin metabolism disorders Level 2: Metabolic disorders Relevant disorders: Abnormality of vitamin metabolism, HP:0100508 Version 1.6 Panel Types: Royal Melbourne Hospital, Rare Disease,	18 of 62 29%	2 reviewers	Download
Vitreoretinopathy Level 2: Ophthalmological disoders Relevant disorders: Abnormal posterior eye segment morphology, HP:0004329 Version 1.4 Panel Types: Royal Melbourne Hospital, Rare Disease, Victorian Clinical Genetics Services,	18 of 18 100%	5 reviewers	Download
Wilms Tumour Predisposition Level 2: Cancer predisposition Relevant disorders: Wilms tumour, MONDO:0006058 Version 0.39 Panel Types: Victorian Clinical Genetics Services, Royal Melbourne Hospital,	14 of 21 67%	5 reviewers	Download

274 panels