Cerebral vascular malformations

Gene: COL4A2

Red List (low evidence)

COL4A2 (collagen type IV alpha 2 chain)
EnsemblGeneIds (GRCh38): ENSG00000134871
EnsemblGeneIds (GRCh37): ENSG00000134871
OMIM: 120090, Gene2Phenotype
COL4A2 is in 12 panels

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

Comment when marking as ready: Associated with haemorrhagic stroke rather than cerebral vascular malformations
Created: 12 Dec 2016, 2:40 p.m.
Associated with haemorrhagic stroke rather than cerebral vascular malformations
Created: 12 Dec 2016, 2:40 p.m.

Details

Sources
  • Expert Review Red
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Hemorrhage, intracerebral, susceptibility to}, 614519
  • {Hemorrhage, intracerebral, susceptibility to}
OMIM
120090
Clinvar variants
Variants in COL4A2
Penetrance
Complete
Panels with this gene

History Filter Activity

29 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to COL4A2.

29 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to COL4A2.

19 Dec 2016, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on the 19th December 2016

12 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

9 Dec 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

COL4A2 was added to Cerebrovascular disorderspanel. Source: Other

9 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

COL4A2 was created by ellenmcdonagh

9 Dec 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

COL4A2 was added to Cerebrovascular disorderspanel. Sources: Radboud University Medical Center, Nijmegen