CUBN

cubilin
OMIM: 602997, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Red CUBN 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 CUBN in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Imerslund-Grasbeck syndrome 1 MIM#261100 AR [Proteinuria, chronic benign] MIM#618884 Tags treatable
Green CUBN 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	Unknown	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Expert Review Green Tags treatable
Red CUBN in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Megaloblastic anemia-1, Finnish type, MIM#261100 Proteinuria
Green CUBN in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Megaloblastic anemia-1, Finnish type
Green CUBN in Red cell disorders Level 2: Haematological disorders Version 1.24	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Yorkshire and North East GLH NHS GMS Wessex and West Midlands GLH North West GLH London South GLH Phenotypes Imerslund-Grasbeck syndrome 1, MIM# 261100 Tags treatable
Green CUBN in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Megaloblastic anaemia-1, Finnish type, MIM#261100 Tags treatable haematological
Green CUBN in Vitamin metabolism disorders Level 2: Metabolic disorders Version 1.6 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Proteinuria, chronic benign MIM#618884 Imerslund-Grasbeck syndrome 1 MIM#261100 Intrinsic factor receptor deficiency due to CUBN mutations (Disorders of cobalamin absorption, transport and metabolism) Tags treatable