COL4A3

collagen type IV alpha 3 chain
OMIM: 120070, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green COL4A3 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	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Alport syndrome 2, autosomal recessive, MIM# 203780 Alport syndrome 3, autosomal dominant, MIM# 104200 Tags Medicare
Green COL4A3 in Mendeliome Version 1.2302	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Alport syndrome 2, autosomal recessive, MIM# 203780 Alport syndrome 3, autosomal dominant, MIM# 104200
Green COL4A3 in Proteinuria Level 2: Renal and urinary tract disorders Version 0.229 Component of the following Super Panels: Kidneyome_SuperPanel Renal Glomerular Disease_SuperPanel	1 review	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green
Green COL4A3 in Renal Macrocystic Disease Level 2: Renal and urinary tract disorders Version 0.77 Component of the following Super Panels: Kidneyome_SuperPanel Renal Cystic Disease_SuperPanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Alport syndrome MONDO:0018965
Green COL4A3 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Alport syndrome, autosomal recessive, 203780 (3)
Green COL4A3 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Alport syndrome
Green COL4A3 in Prepair 1000+ Level 2: Screening Version 1.1566	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Alport syndrome 3b, autosomal recessive MIM#620536 MONDO:0957811
Green COL4A3 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Alport syndrome 2, autosomal recessive, MIM# 203780 Tags treatable renal
Green COL4A3 in Prepair 500+ Level 2: Screening Version 1.5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Alport syndrome, autosomal recessive, 203780 (3)