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  3. COL4A5
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Cystic kidney disease

Gene: COL4A5

Red List (low evidence)
COL4A5 (collagen type IV alpha 5 chain)
EnsemblGeneIds (GRCh38): ENSG00000188153
EnsemblGeneIds (GRCh37): ENSG00000188153
OMIM: 303630, Gene2Phenotype
COL4A5 is in 6 panels

2 reviews

Eleanor Williams (Genomics England Curator)

Removed 'for-review' tag as only 1 case, so red rating.
Created: 21 Jan 2021, 3:54 p.m. | Last Modified: 21 Jan 2021, 3:54 p.m.
Panel Version: 2.23
Comment on list classification: Promoting from grey to red, as there is one reported case. But noting the green review from expert reviewer John Sayer, marking this gene as 'for-review' by the GMS.
Created: 13 Jan 2021, 4:39 p.m. | Last Modified: 13 Jan 2021, 4:39 p.m.
Panel Version: 2.22
PMID: 31922066 - Gulati et al 2019 - through WES they identified 1 female patient with Thin glomerular basement membrane (TBM) disease and bilateral kidney cysts that was heterozygous for a COL4A5 likely pathogenic missense variant (c.C899T: p. P300L)
Created: 13 Jan 2021, 4:38 p.m. | Last Modified: 13 Jan 2021, 4:38 p.m.
Panel Version: 2.21

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
cystic kidney disease MONDO:0002473

Publications

Created: 13 Jan 2021, 4:38 p.m.
Last Modified: 13 Jan 2021, 4:38 p.m.
Panel version: 2.23

John Sayer (Newcastle University)

Green List (high evidence)

Additional publication supporting this gene with cystic kidney phenotypes
PMID: 38680391
Created: 30 Jun 2024, 10:45 a.m. | Last Modified: 30 Jun 2024, 10:45 a.m.
Panel Version: 5.8
COL4A5 may cause mild cystic kidney disease
Sources: Other
Created: 5 Jun 2020, 3:03 p.m. | Last Modified: 5 Jun 2020, 3:03 p.m.
Panel Version: 2.17

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
cystic kidney disease

Publications

Created: 5 Jun 2020, 3:03 p.m.
Last Modified: 5 Jun 2020, 3:03 p.m.
Panel version: 5.8

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
Phenotypes
  • cystic kidney disease MONDO:0002473
OMIM
303630
Clinvar variants
Variants in COL4A5
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

4 Nov 2024, Gel status: 1

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: COL4A5 were set to 31922066

21 Jan 2021, Gel status: 1

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag for-review was removed from gene: COL4A5.

13 Jan 2021, Gel status: 1

Added Tag

Eleanor Williams (Genomics England Curator)

Tag for-review tag was added to gene: COL4A5.

13 Jan 2021, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: COL4A5 were changed from cystic kidney disease to cystic kidney disease MONDO:0002473

13 Jan 2021, Gel status: 1

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: col4a5 has been classified as Red List (Low Evidence).

5 Jun 2020, Gel status: 0

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

John Sayer (Newcastle University)

gene: COL4A5 was added gene: COL4A5 was added to Cystic kidney disease. Sources: Other Mode of inheritance for gene: COL4A5 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: COL4A5 were set to 31922066 Phenotypes for gene: COL4A5 were set to cystic kidney disease Penetrance for gene: COL4A5 were set to unknown Review for gene: COL4A5 was set to GREEN