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Groopman et al 2019 - Genes with diagnostic variants

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 6 panels

1 review

Eleanor Williams (Genomics England Curator)

I don't know

From Groopman et al 2019 Table S7. Gene symbol: COL4A5; Inheritance: X-linked (hemizygous in males, heterozygous in females); Clinical diagnosis: Congenital or cystic renal disease; Glomerulopathy; Nephropathy of unknown origin; Genetic diagnosis: Alport syndrome, X-linked; OMIM phenotype MIM no.: 301050:Number of cases: 44
Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.
Panel Version: 0.4
Created: 2 Jul 2019, 9:46 p.m.
Last Modified: 2 Jul 2019, 9:46 p.m.
Panel version: 0.4

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
  • Expert review green
  • Literature
Phenotypes
  • MIM 301050
  • Congenital or cystic renal disease
  • Nephropathy of unknown origin
  • Alport syndrome, X-linked
  • Glomerulopathy
OMIM
303630
Clinvar variants
Variants in COL4A5
Penetrance
None
Panels with this gene

History Filter Activity

2 Jul 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Green was added to COL4A5. Rating Changed from Red List (low evidence) to Green List (high evidence)

2 Jul 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: COL4A5 was added gene: COL4A5 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green 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) Phenotypes for gene: COL4A5 were set to MIM 301050; Congenital or cystic renal disease; Nephropathy of unknown origin; Alport syndrome, X-linked; Glomerulopathy