OCRL

OCRL, inositol polyphosphate-5-phosphatase
OMIM: 300535, Gene2Phenotype

18 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 18 panels
Red OCRL in Haematuria_Alport Level 2: Renal and urinary tract disorders Version 1.1 Component of the following Super Panels: Kidneyome_SuperPanel Renal Glomerular Disease_SuperPanel	review	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services
Green OCRL in Anophthalmia_Microphthalmia_Coloboma Level 2: Ophthalmological disorders Version 1.39	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lowe syndrome, MIM# 309000
Green OCRL in Autism Level 2: Neurology and neurodevelopmental disorders Version 0.198	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green OCRL in Cataract Level 2: Ophthalmological disorders Version 0.366	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green OCRL in Glaucoma congenital Level 2: Ophthalmological disorders Version 1.9	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Lowe syndrome, MIM# 309000
Green OCRL in Mendeliome Version 1.1902	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dent disease 2, MIM# 300555 Lowe syndrome , MIM#309000
Green OCRL in Proteinuria Level 2: Renal and urinary tract disorders Version 0.225 Component of the following Super Panels: Kidneyome_SuperPanel Renal Glomerular Disease_SuperPanel	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Dent disease 2, MIM#300555 Lowe syndrome, MIM#309000
Green OCRL in Calcium and Phosphate disorders Level 2: Renal and urinary tract disorders; Endocrine disorders Version 1.24	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Lowe syndrome, MIM# 309000 Dent disease 2, MIM #300555
Red OCRL in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Phenotypes Lowe syndrome MIM#309000
Green OCRL in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes oculocerebrorenal syndrome MONDO:0010645
Red OCRL in Leukodystrophy - paediatric Level 2: Neurology and neurodevelopmental disorders Version 0.308 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Royal Melbourne Hospital Expert Review Red Phenotypes Lowe syndrome, 309000
Green OCRL in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Lowe syndrome, 309000 (3)
Green OCRL in Additional findings_Paediatric Level 2: Screening Version 0.278	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Lowe oculocerebrorenal syndrome
Green OCRL in Fetal anomalies Version 1.255	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Lowe syndrome, OMIM:309000 Dent disease 2, OMIM:300555
Green OCRL in Prepair 1000+ Level 2: Screening Version 1.9	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Lowe syndrome, 309000 (3)
Red OCRL in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BabySeq Category A gene Phenotypes Lowe syndrome , MIM#309000 Dent disease 2, MIM# 300555
Green OCRL in Renal Tubulopathies and related disorders Level 2: Renal and urinary tract disorders Version 1.14 Component of the following Super Panels: Kidneyome_SuperPanel	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert list Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Dent disease 2, MIM #300555 Lowe syndrome, MIM# 309000
Green OCRL in Prepair 500+ Level 2: Screening Version 1.1	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Lowe syndrome, 309000 (3)