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  2. Renal and urinary tract disorders
  3. COL4A6
STRs in panel
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Renal and urinary tract disorders

Gene: COL4A6

Red List (low evidence)
COL4A6 (collagen type IV alpha 6 chain)
EnsemblGeneIds (GRCh38): ENSG00000197565
EnsemblGeneIds (GRCh37): ENSG00000197565
OMIM: 303631, Gene2Phenotype
COL4A6 is in 4 panels

0 reviews

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4)
  • diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5 Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4)
  • (originally on Alport syndrome gene panel)
  • diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5
OMIM
303631
Clinvar variants
Variants in COL4A6
Penetrance
None
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Helen Stuart: May be phenocopy of PUV

20 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: COL4A6 was added gene: COL4A6 was added to Renal and urinary tract disorders. Sources: Expert Review Red Mode of inheritance for gene: COL4A6 was set to Unknown Phenotypes for gene: COL4A6 were set to Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4); diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5 Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4); (originally on Alport syndrome gene panel); diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5