Cystic kidney disease
Gene: COL4A5Removed '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
COL4A5 may cause mild cystic kidney disease
Sources: OtherCreated: 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
Tag for-review was removed from gene: COL4A5.
Tag for-review tag was added to gene: COL4A5.
Phenotypes for gene: COL4A5 were changed from cystic kidney disease to cystic kidney disease MONDO:0002473
Gene: col4a5 has been classified as Red List (Low Evidence).
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