COL4A5

collagen type IV alpha 5 chain
OMIM: 303630, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green COL4A5 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	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 Victorian Clinical Genetics Services Phenotypes Alport syndrome 1, X-linked, MIM# 301050 Tags Medicare
Green COL4A5 in Mendeliome Version 1.3512	1 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 Victorian Clinical Genetics Services Phenotypes Alport syndrome 1, X-linked, MIM# 301050
Green COL4A5 in Proteinuria Level 2: Renal and urinary tract disorders Version 0.231 Component of the following Super Panels: Kidneyome_SuperPanel Renal Glomerular Disease_SuperPanel	1 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 Victorian Clinical Genetics Services Phenotypes Alport syndrome 1, X-linked, MIM# 301050
Amber COL4A5 in Renal Macrocystic Disease Level 2: Renal and urinary tract disorders Version 0.91 Component of the following Super Panels: Kidneyome_SuperPanel Renal Cystic Disease_SuperPanel	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Literature Phenotypes Alport syndrome MONDO:0018965
Green COL4A5 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.238	1 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 Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Alport syndrome 1, X-linked, MIM# 301050
Green COL4A5 in Additional findings_Adult Level 2: Screening Version 1.130	1 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 Phenotypes Alport syndrome 1, X-linked, MIM# 301050
Green COL4A5 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	1 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 Mackenzie's Mission Phenotypes Alport syndrome 1, X-linked
Green COL4A5 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Alport syndrome
Green COL4A5 in Prepair 1000+ Level 2: Screening Version 2.14	1 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 Mackenzie's Mission Phenotypes Alport syndrome 1, X-linked, MIM#301050
Green COL4A5 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	1 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 BabySeq Category A gene Phenotypes Alport syndrome 1, X-linked, MIM# 301050 Tags treatable renal
Green COL4A5 in Prepair 500+ Level 2: Screening Version 2.0	1 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 Mackenzie's Mission Phenotypes Alport syndrome 1, X-linked, MIM#301050