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Cystic kidney disease

Gene: COL4A3

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: There is some evidence that shows some patients with COL4A3-related Alport syndrome have multicystic kidney disease (MKD).

PMID: 38178635 - Bada-Bosch et al 2024 - at least 8 unrelated individuals with heterozygous LP/P variants in the COL4A3 and MKD.

However, a substantial proportion of AD Alport Syndrome patients maintain normal kidney function throughout life and the factors underlying the development of kidney disease remain incompletely understood.

Rating Amber given that inclusion of other Alport genes COL4A4/5 on this panel was rejected on GMS expert review but monitoring of this association should be continued (added watchlist tag).
Created: 4 Nov 2024, 10:57 a.m. | Last Modified: 4 Nov 2024, 10:57 a.m.
Panel Version: 7.4
Created: 4 Nov 2024, 10:57 a.m.
Last Modified: 4 Nov 2024, 10:57 a.m.
Panel version: 7.4

John Sayer (Newcastle University)

Red List (low evidence)

evidence pointing for COL4A3/4/5 causing mild cystic phenotypes
Sources: Research
Created: 30 Jun 2024, 10:49 a.m. | Last Modified: 30 Jun 2024, 10:49 a.m.
Panel Version: 5.8

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
cystic kidney disease; proteinuria; haematuria

Publications

Created: 30 Jun 2024, 10:49 a.m.
Last Modified: 30 Jun 2024, 10:49 a.m.
Panel version: 5.8

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • cystic kidney disease
  • proteinuria
  • haematuria
Tags
watchlist
OMIM
120070
Clinvar variants
Variants in COL4A3
Penetrance
Incomplete
Publications
Panels with this gene

History Filter Activity

4 Nov 2024, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist tag was added to gene: COL4A3.

4 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: col4a3 has been classified as Amber List (Moderate Evidence).

30 Jun 2024, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

John Sayer (Newcastle University)

gene: COL4A3 was added gene: COL4A3 was added to Cystic kidney disease. Sources: Research Mode of inheritance for gene: COL4A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COL4A3 were set to 38178635; 35602506 Phenotypes for gene: COL4A3 were set to cystic kidney disease; proteinuria; haematuria Penetrance for gene: COL4A3 were set to Incomplete Review for gene: COL4A3 was set to RED