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Groopman et al 2019 - Genes with diagnostic variants

Gene: COL4A4

Green List (high evidence)
COL4A4 (collagen type IV alpha 4 chain)
EnsemblGeneIds (GRCh38): ENSG00000081052
EnsemblGeneIds (GRCh37): ENSG00000081052
OMIM: 120131, Gene2Phenotype
COL4A4 is in 9 panels

1 review

Eleanor Williams (Genomics England Curator)

I don't know

From Groopman et al 2019 Table S7. Gene symbol: COL4A4; Inhertiance: AD and AR; Clinical diagnosis: Congenital or cystic renal disease; Glomerulopathy; Hypertensive nephropathy; Nephropathy of unknown origin; Genetic diagnosis: Alport syndrome, autosomal dominant/recessive; Thin basement membrane disease; OMIM phenotype MIM no.: 203780, 141200; Number of cases: 21 (3 homozygous, 2 compond heterozygous, 16 heterogyzous)
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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert review green
  • Literature
Phenotypes
  • MIM 203780
  • Hypertensive nephropathy
  • Congenital or cystic renal disease
  • Nephropathy of unknown origin
  • Glomerulopathy
  • Thin basement membrane disease
  • Alport syndrome, autosomal dominant/recessive
  • 141200
OMIM
120131
Clinvar variants
Variants in COL4A4
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 COL4A4. 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: COL4A4 was added gene: COL4A4 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green Mode of inheritance for gene: COL4A4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: COL4A4 were set to MIM 203780; Hypertensive nephropathy; Congenital or cystic renal disease; Nephropathy of unknown origin; Glomerulopathy; Thin basement membrane disease; Alport syndrome, autosomal dominant/recessive; 141200