COL4A5

collagen type IV alpha 5 chain
OMIM: 303630, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Red COL4A5 in ClinGen_Familial thoracic aortic aneurysm and aortic dissection Version 0.11	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources ClinGen Expert Review Red Phenotypes Familial thoracic aortic aneurysm and aortic dissection
Red COL4A5 in Rare genetic inflammatory skin disorders Version 3.19 Latest signed off version: v3.0 (22 Mar 2023)	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 Red
Red COL4A5 in Cystic kidney disease Level 3: Structural renal and urinary tract disease Level 2: Renal and urinary tract disorders Version 4.24 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Cystic renal disease Renal superpanel - broad Renal superpanel - narrow	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 Red Other Phenotypes cystic kidney disease MONDO:0002473
Green COL4A5 in Unexplained kidney failure in young people Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 1.119 Component of the following Super Panels: Renal superpanel - broad	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 Eligibility statement prior genetic testing UKGTN Radboud University Medical Center, Nijmegen Phenotypes Alport syndrome 301050
Green COL4A5 in Unexplained young onset end-stage renal disease Version 3.41 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Renal superpanel - broad	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 Phenotypes Alport syndrome 301050
Green COL4A5 in Monogenic hearing loss Level 3: Non-syndromic hearing loss Level 2: Hearing and ear disorders Version 4.38 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	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 Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes #301050:Alport syndrome diffuse leiomyomatosis with Alport syndrome = contiguous gene syndrome with COL4A6 hearing loss
Green COL4A5 in Haematuria Level 3: Syndromes with prominent renal abnormalities Level 2: Renal and urinary tract disorders Version 2.13 Latest signed off version: v2.4 (15 Oct 2020) Component of the following Super Panels: Renal superpanel - broad Renal superpanel - narrow	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing UKGTN Radboud University Medical Center, Nijmegen Phenotypes Alport syndrome 1, X-linked OMIM:301050
Green COL4A5 in Proteinuric renal disease Level 3: Syndromes with prominent renal abnormalities Level 2: Renal and urinary tract disorders Version 4.12 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Renal superpanel - broad Renal superpanel - narrow	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing Phenotypes Alports Familial benign haematuria Alport syndrome proteinuria haematuria FSGS
Green COL4A5 in Groopman et al 2019 - Genes with diagnostic variants Version 0.8	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 review green Literature Phenotypes MIM 301050 Congenital or cystic renal disease Nephropathy of unknown origin Alport syndrome, X-linked Glomerulopathy
Green COL4A5 in Severe Paediatric Disorders Version 1.184	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Alport syndrome 1, X-linked, 301050