COL4A4

collagen type IV alpha 4 chain
OMIM: 120131, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green COL4A4 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	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Alport syndrome 2, autosomal recessive, 203780 Thin basement membrane nephropathy (TBMN), AD Focal segmental glomerulosclerosis (FSGS), AD Tags Medicare
Green COL4A4 in Mendeliome Version 1.3512	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Alport syndrome 2, autosomal recessive MIM#203780 Hematuria, familial benign MIM#141200
Green COL4A4 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	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green
Amber COL4A4 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	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Alport syndrome MONDO:0018965
Green COL4A4 in Additional findings_Adult Level 2: Screening Version 1.130	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Alport syndrome 2, autosomal recessive, MIM#203780
Green COL4A4 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Alport syndrome, autosomal recessive, 203780 (3)
Green COL4A4 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 Alport syndrome
Green COL4A4 in Prepair 1000+ Level 2: Screening Version 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Alport syndrome, autosomal recessive, 203780 (3)
Green COL4A4 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	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 COL4A4 in Prepair 500+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Alport syndrome 2, autosomal recessive MIM# 203780