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Achromatopsia
Additional findings_Adult
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Adult Cardiac SuperPanel
Alagille syndrome
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Ataxia_Superpanel
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Cardiomyopathy_Adult_SuperPanel
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Congenital diaphragmatic hernia
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Cutis Laxa
Deafness_Isolated
Deafness_IsolatedAndComplex
Defects of intrinsic and innate immunity
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Diamond Blackfan anaemia
Differences of Sex Development
Diffuse Gastric Cancer
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Dystonia_Superpanel
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Early-onset Parkinson disease
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Hereditary Neuropathy_CMT_IsolatedAndComplex
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Hereditary Spastic Paraplegia - adult onset
Hereditary Spastic Paraplegia - paediatric
Hereditary Spastic Paraplegia Superpanel
Heterotaxy
Hirschsprung disease
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IBMDx study
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Immunological disorders_SuperPanel
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Incidentalome_PREGEN_DRAFT
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Interstitial Lung Disease
Joubert syndrome and other neurological ciliopathies
Kabuki syndrome
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Kidneyome_SuperPanel
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Leukodystrophy_Superpanel
Limb and Digital Malformations SuperPanel
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Lissencephaly and Band Heterotopia
Liver Failure_Paediatric
Liverome Superpanel
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Mackenzie's Mission_Reproductive Carrier Screening
Macrocephaly_Megalencephaly
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Malformations of cortical development_Superpanel
Malignant Hyperthermia Susceptibility
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Medulloblastoma
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Metabolic Disorders Superpanel
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Multiple epiphyseal dysplasia and pseudoachondroplasia
Multiple joint dislocations and laxity
Multiple pterygium syndrome_Fetal akinesia sequence
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Myopathy Superpanel
Neuroblastoma
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Neuromuscular Superpanel
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Palmoplantar Keratoderma and Erythrokeratoderma
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Pharmacogenomics_Paediatric
Photosensitivity Syndromes
Pierre Robin Sequence
Pituitary hormone deficiency
Pituitary Tumour
Pneumothorax
Polycystic liver disease
Polydactyly
Polymicrogyria and Schizencephaly
Predominantly Antibody Deficiency
Prepair 1000+
Prepair 500+
Primary Ovarian Insufficiency_Premature Ovarian Failure
Progressive Myoclonic Epilepsy
Progressive Neurological Conditions
Prostate Cancer
Proteinuria
Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy
Pulmonary Arterial Hypertension
Pulmonary Fibrosis_Interstitial Lung Disease
Radial Ray Abnormalities
Rasopathy
Red cell disorders
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Renal Ciliopathies and Nephronophthisis
Renal Cystic Disease_SuperPanel
Renal Glomerular Disease_SuperPanel
Renal Macrocystic Disease
Renal Tubulointerstitial Disease
Renal Tubulopathies and related disorders
Repeat Disorders
Retinal Disorders Superpanel
Retinitis pigmentosa_Autosomal Dominant
Retinitis pigmentosa_Autosomal Recessive/X-linked
Retinitis Pigmentosa Superpanel
Rhabdomyolysis and Metabolic Myopathy
Sarcoma non-soft tissue
Sarcoma soft tissue
Schwannoma
Severe Combined Immunodeficiency (absent T absent B cells)
Severe Combined Immunodeficiency (absent T present B cells)
Severe early-onset obesity
Short Long Bones with Advanced Carpal Bone Age
Short QT syndrome
Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy
Sick sinus syndrome
Skeletal dysplasia
Skeletal Dysplasia_Fetal
Skeletal Muscle Channelopathies
Speech apraxia
Spondylocostal Dysostosis
Spontaneous coronary artery dissection
Stickler Syndrome
Stroke
Susceptibility to Fungal Infections
Susceptibility to Viral Infections
Syndromic Retinopathy
Thyroid Cancer
Transplant Co-Morbidity Superpanel
Tremors_Superpanel
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly
Tubulinopathies
Usher Syndrome
Vascular Malformations_Germline
Vascular Malformations_Somatic
Vascular Malformations SuperPanel
Vasculitis
Ventricular Fibrillation
Vitamin metabolism disorders
Vitreoretinopathy
Wilms Tumour
Version
Panel Version
0.205
Gene or Genomic Entity Name
OCRL
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17 Nov 2019
Autism v0.0
OCRL
Zornitza Stark gene: OCRL was added
gene: OCRL was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: OCRL was set to Unknown