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  3. COL4A3
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Proteinuria

Gene: COL4A3

Green List (high evidence)
COL4A3 (collagen type IV alpha 3 chain)
EnsemblGeneIds (GRCh38): ENSG00000169031
EnsemblGeneIds (GRCh37): ENSG00000169031
OMIM: 120070, Gene2Phenotype
COL4A3 is in 9 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association.
Created: 4 May 2022, 12:07 a.m. | Last Modified: 4 May 2022, 12:07 a.m.
Panel Version: 0.13665

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Alport syndrome 2, autosomal recessive, MIM# 203780; Alport syndrome 3, autosomal dominant, MIM# 104200

Variants in this GENE are reported as part of current diagnostic practice

Created: 4 May 2022, 12:07 a.m.
Last Modified: 4 May 2022, 12:07 a.m.
Panel version: Imported from Mendeliome panel version 0.13665

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert Review Green
OMIM
120070
Clinvar variants
Variants in COL4A3
Penetrance
None
Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COL4A3 was added gene: COL4A3 was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: COL4A3 was set to Unknown