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Mackenzie's Mission_Reproductive Carrier Screening

Gene: COL4A5

Green List (high evidence)

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)

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