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 1.2 Component of the following Super Panels: Kidneyome_SuperPanel Renal Glomerular Disease_SuperPanel	1 review	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services
Green CUBN in Mendeliome Version 1.3512	2 reviews	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 0.231 Component of the following Super Panels: Kidneyome_SuperPanel Renal Glomerular Disease_SuperPanel	2 reviews	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 1.410	1 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	0 reviews	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 1.33	1 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 Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	2 reviews	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 1.7 Component of the following Super Panels: Metabolic Disorders Superpanel	1 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