Mackenzie's Mission_Reproductive Carrier Screening
Gene: COL4A5

COL4A5 (collagen type IV alpha 5 chain)
EnsemblGeneIds (GRCh38): ENSG00000188153
EnsemblGeneIds (GRCh37): ENSG00000188153
OMIM: 303630, Gene2Phenotype
COL4A5 is in 10 panels

1 review

Sarah Righetti (University of New South Wales)

Heterozygous females with Alport often have minor features (e.g. haematuria) but can have severe renal disease - adult-onset
Created: 12 Nov 2020, 3:43 a.m. | Last Modified: 12 Nov 2020, 3:43 a.m.

Panel Version: 0.47

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

Created: 12 Nov 2020, 3:43 a.m.
Last Modified: 12 Nov 2020, 3:43 a.m.
Panel version: 0.47

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 Green
Mackenzie's Mission

Phenotypes

Alport syndrome 1, X-linked

OMIM

303630

Clinvar variants

Variants in COL4A5

Penetrance

None

Panels with this gene

History Filter Activity

7 May 2021, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: col4a5 has been classified as Green List (High Evidence).

7 May 2021, Gel status: 3

Set mode of inheritance

Seb Lunke (Victorian Clinical Genetics Services)

Mode of inheritance for gene: COL4A5 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

19 Apr 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COL4A5 was added gene: COL4A5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: COL4A5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: COL4A5 were set to Alport syndrome 1, X-linked

Mackenzie's Mission_Reproductive Carrier Screening Gene: COL4A5