Clinicians and laboratories can use this tool to build a custom gene panel, using existing panels from PanelApp Australia. This is most useful when a patient’s features involve several systems or when you’re considering several diagnoses.

1. Click Filter, then Condition.

2. Choose how you want to find genes:

Start typing [system]: 1 = gene is marked as relevant to this organ system; 0 = gene is not marked as relevant

Start typing [panel]: 3 = Green; 2 = Amber; 1 = Red; 0 = gene is absent from this panel.

3. Select the value(s) you want to include. Use = (equal to) or > (greater than) to filter by specific values or ranges.

4. Add more filters as needed.

   • "And" creates a more focused panel by including only genes that meet all selected criteria (overlap of panels).

   • "Or" creates a more inclusive panel by including genes that meet any of the selected criteria (union of panels)

5. Copy-paste the filtered results.

List of [system]

• [system] Cancer Predisposition

• [system] Cancer Predisposition

• [system] Cardiovascular disorders

• [system] Dermatological disorders

• [system] Dysmorphic and congenital abnormality syndromes

• [system] Endocrine disorders

• [system] Gastroenterological disorders

• [system] Haematological disorders

• [system] Hearing and ear disorders

• [system] Immunological disorders

• [system] Metabolic disorders

• [system] Neurology and neurodevelopmental disorders

• [system] Ophthalmological disorders

• [system] Renal and urinary tract disorders

• [system] Respiratory disorders

• [system] Skeletal disorders

• [system] Vascular disorders

List of [panel]

• [panel] Achromatopsia

• [panel] Adrenal insufficiency

• [panel] Alagille syndrome

• [panel] Alternating Hemiplegia and Hemiplegic Migraine

• [panel] Amelogenesis imperfecta

• [panel] Aminoacidopathy

• [panel] Amyloidosis

• [panel] Angelman Rett like syndromes

• [panel] Anophthalmia_Microphthalmia_Coloboma

• [panel] Aortopathy_Connective Tissue Disorders

• [panel] Arrhythmogenic Cardiomyopathy

• [panel] Arthrogryposis

• [panel] Ataxia

• [panel] Atrial Fibrillation

• [panel] Atypical Haemolytic Uraemic Syndrome_MPGN

• [panel] Autism

• [panel] Autoimmune Lymphoproliferative Syndrome

• [panel] Autoinflammatory Disorders

• [panel] Autonomic neuropathy_2

• [panel] Bardet Biedl syndrome

• [panel] Basal Cell Cancer

• [panel] Bleeding, Thrombosis and Platelet Disorders

• [panel] Blepharophimosis

• [panel] Bone Marrow Failure

• [panel] Brain Calcification

• [panel] Brain Channelopathies

• [panel] Breast Cancer

• [panel] Brugada syndrome

• [panel] Callosome

• [panel] Cancer Predisposition_Paediatric

• [panel] Cardiac conduction disease

• [panel] Cardiomyopathy_Paediatric

• [panel] Cataract

• [panel] Catecholaminergic Polymorphic Ventricular Tachycardia

• [panel] Central Hypoventilation

• [panel] Cerebellar and Pontocerebellar Hypoplasia

• [panel] Cerebral amyloid angiopathy

• [panel] Cerebral Palsy

• [panel] Cerebral vascular malformations

• [panel] Choanal atresia

• [panel] Cholestasis

• [panel] Chromosome Breakage Disorders

• [panel] Chronic granulomatous disease

• [panel] Ciliary Dyskinesia

• [panel] Ciliopathies

• [panel] Clefting disorders

• [panel] Cobblestone Malformations

• [panel] Colorectal Cancer and Polyposis

• [panel] Combined Immunodeficiency

• [panel] Common deletion and duplication syndromes

• [panel] Complement Deficiencies

• [panel] Cone-rod Dystrophy

• [panel] Congenital adrenal hyperplasia

• [panel] Congenital anomalies of the kidney and urinary tract (CAKUT)

• [panel] Congenital diaphragmatic hernia

• [panel] Congenital Diarrhoea

• [panel] Congenital Disorders of Glycosylation

• [panel] Congenital Heart Defect

• [panel] Congenital hypothyroidism

• [panel] Congenital Myasthenia

• [panel] Congenital nystagmus

• [panel] Congenital ophthalmoplegia

• [panel] Congenital Stationary Night Blindness

• [panel] Corneal Dystrophy

• [panel] Craniosynostosis

• [panel] Cutis Laxa

• [panel] Deafness_IsolatedAndComplex

• [panel] Defects of intrinsic and innate immunity

• [panel] Desmosomal disorders

• [panel] Diabetes Insipidus

• [panel] Diamond Blackfan anaemia

• [panel] Differences of Sex Development

• [panel] Diffuse Gastric Cancer

• [panel] Dilated Cardiomyopathy

• [panel] Disorders of immune dysregulation

• [panel] Dyslipidaemia

• [panel] Dystonia and Chorea

• [panel] Early-onset Dementia

• [panel] Early-onset Parkinson disease

• [panel] Ectodermal Dysplasia

• [panel] Endometrial Cancer

• [panel] Epidermolysis bullosa

• [panel] Eye Anterior Segment Abnormalities

• [panel] Facial papules

• [panel] Familial hypercholesterolaemia

• [panel] Familial hypocalciuric hypercalcaemia

• [panel] Familial hypoparathyroidism

• [panel] Fatty Acid Oxidation Defects

• [panel] Fetal anomalies

• [panel] Foveal Hypoplasia

• [panel] Frontonasal dysplasia

• [panel] Gastrointestinal neuromuscular disease

• [panel] Gastrointestinal Stromal Tumour

• [panel] Genetic Epilepsy

• [panel] Genomic newborn screening: BabyScreen+

• [panel] Genomic newborn screening: ICoNS

• [panel] Genomic screening in children: BabyScreen+

• [panel] Glaucoma congenital

• [panel] Glycogen Storage Diseases

• [panel] Growth failure

• [panel] Haem degradation and bilirubin metabolism defects

• [panel] Haematological malignancies

• [panel] Haematuria_Alport

• [panel] Hair disorders

• [panel] Hand and foot malformations

• [panel] Hereditary angioedema

• [panel] Hereditary Haemorrhagic Telangiectasia

• [panel] Hereditary Neuropathy

• [panel] Hereditary Pigmentary Disorders

• [panel] Hereditary Spastic Paraplegia

• [panel] Heterotaxy

• [panel] Hirschsprung disease

• [panel] Holoprosencephaly and septo-optic dysplasia

• [panel] Homologous_recombination_deficiency_WTS_UMCCR

• [panel] Hydrocephalus_Ventriculomegaly

• [panel] Hydrops fetalis

• [panel] Hyperammonaemia

• [panel] Hypercalcaemia

• [panel] Hyperinsulinism

• [panel] Hyperparathyroidism

• [panel] Hypertension and Aldosterone disorders

• [panel] Hyperthyroidism

• [panel] Hypertrichosis syndromes

• [panel] Hypertrophic cardiomyopathy

• [panel] Hypogonadotropic hypogonadism

• [panel] Hypophosphataemia or rickets

• [panel] IBMDx study

• [panel] Ichthyosis and Porokeratosis

• [panel] Immune_markers_WTS_UMCCR

• [panel] Imprinting disorders

• [panel] Incidentalome

• [panel] Infertility and Recurrent Pregnancy Loss

• [panel] Inflammatory bowel disease

• [panel] Intellectual disability syndromic and non-syndromic

• [panel] Joubert syndrome and other neurological ciliopathies

• [panel] Kidney Cancer

• [panel] Leukodystrophy

• [panel] Limb-Girdle Muscular Dystrophy and Distal Myopathy

• [panel] Lipodystrophy_Lipoatrophy

• [panel] Lissencephaly and Band Heterotopia

• [panel] Liver Failure_Paediatric

• [panel] Long QT Syndrome

• [panel] Lymphoedema

• [panel] Lysosomal Storage Disorder

• [panel] Macrocephaly_Megalencephaly

• [panel] Macular Dystrophy/Stargardt Disease

• [panel] Malignant Hyperthermia Susceptibility

• [panel] Mandibulofacial Acrofacial dysostosis

• [panel] Medulloblastoma

• [panel] Melanoma

• [panel] Mendeliome

• [panel] Meningioma

• [panel] Metal Metabolism Disorders

• [panel] Microcephaly

• [panel] Mirror movements

• [panel] Miscellaneous Metabolic Disorders

• [panel] Mitochondrial disease

• [panel] Monogenic Diabetes

• [panel] Mosaic skin disorders

• [panel] Motor Neurone Disease

• [panel] Multiple pterygium syndrome_Fetal akinesia sequence

• [panel] Muscular dystrophy and myopathy_Paediatric

• [panel] Neuroblastoma

• [panel] Neurodegeneration with brain iron accumulation

• [panel] Neurodegenerative disease - adult onset

• [panel] Neurotransmitter Defects

• [panel] Nucleotide metabolism disorders

• [panel] Ocular and Oculocutaneous Albinism

• [panel] Oligodontia

• [panel] Optic Atrophy

• [panel] Osteogenesis Imperfecta and Osteoporosis

• [panel] Osteopetrosis

• [panel] Ovarian Cancer

• [panel] Overgrowth

• [panel] Pain syndromes

• [panel] Palmoplantar Keratoderma and Erythrokeratoderma

• [panel] Pancreatic Cancer

• [panel] Pancreatitis

• [panel] Paraganglioma_phaeochromocytoma

• [panel] Parathyroid Tumour

• [panel] Paroxysmal Dyskinesia

• [panel] Periventricular Grey Matter Heterotopia

• [panel] Peroxisomal Disorders

• [panel] Phagocyte Defects

• [panel] Pharmacogenomics

• [panel] Photosensitivity Syndromes

• [panel] Pierre Robin Sequence

• [panel] Pituitary hormone deficiency

• [panel] Pituitary Tumour

• [panel] Pneumothorax

• [panel] Polycystic liver disease

• [panel] Polydactyly

• [panel] Polymicrogyria and Schizencephaly

• [panel] Predominantly Antibody Deficiency

• [panel] Prepair 1000+

• [panel] Prepair 500+

• [panel] Primary nodular adrenocortical disease

• [panel] Primary Ovarian Insufficiency_Premature Ovarian Failure

• [panel] Progressive Myoclonic Epilepsy

• [panel] Progressive Neurological Conditions

• [panel] Prostate Cancer

• [panel] Proteinuria

• [panel] Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy

• [panel] Pulmonary Arterial Hypertension

• [panel] Pulmonary Fibrosis_Interstitial Lung Disease

• [panel] Radial Ray Abnormalities

• [panel] Rasopathy

• [panel] Red cell disorders

• [panel] Regression

• [panel] Renal Ciliopathies and Nephronophthisis

• [panel] Renal Macrocystic Disease

• [panel] Renal Tubulointerstitial Disease

• [panel] Renal Tubulopathies and related disorders

• [panel] Repeat Disorders

• [panel] Retinitis pigmentosa

• [panel] Rhabdomyolysis and Metabolic Myopathy

• [panel] Sarcoma non-soft tissue

• [panel] Sarcoma soft tissue

• [panel] Schwannoma

• [panel] Severe Combined Immunodeficiency

• [panel] Severe early-onset obesity

• [panel] Short QT syndrome

• [panel] Skeletal Ciliopathies

• [panel] Skeletal dysplasia

• [panel] Skeletal Dysplasia_Fetal

• [panel] Skeletal Muscle Channelopathies

• [panel] Speech apraxia

• [panel] Spontaneous coronary artery dissection

• [panel] Stickler Syndrome

• [panel] Stroke

• [panel] Susceptibility to Viral Infections

• [panel] Syndromic Retinopathy

• [panel] Thyroid Cancer

• [panel] Transplant Co-Morbidity

• [panel] Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly

• [panel] Tubulinopathies

• [panel] Usher Syndrome

• [panel] Vascular Malformations_Germline

• [panel] Vascular Malformations_Somatic

• [panel] Vitamin metabolism disorders

• [panel] Vitreoretinopathy

• [panel] Wilms Tumour

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