1. Panels
  2. Haematuria_Alport
  3. COL4A3
STRs in panel
Prev Next
Regions in panel
Prev Next

Haematuria_Alport

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 20 Jan 2021, 10:08 a.m. | Last Modified: 20 Jan 2021, 10:08 a.m.
Panel Version: 0.37

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

Created: 20 Jan 2021, 10:08 a.m.
Last Modified: 20 Jan 2021, 10:08 a.m.
Panel version: 0.37

Details

Mode of Inheritance
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
OMIM
120070
Clinvar variants
Variants in COL4A3
Penetrance
None
Panels with this gene

History Filter Activity

20 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: col4a3 has been classified as Green List (High Evidence).

20 Jan 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COL4A3 were changed from to Alport syndrome 2, autosomal recessive, MIM# 203780; Alport syndrome 3, autosomal dominant, MIM# 104200

20 Jan 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: COL4A3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

5 Feb 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag Medicare tag was added to gene: COL4A3.

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 Alport syndrome extended_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: COL4A3 was set to Unknown