Cerebral vascular malformations

Gene: SRPX2

Red List (low evidence)

SRPX2 (sushi repeat containing protein, X-linked 2)
EnsemblGeneIds (GRCh38): ENSG00000102359
EnsemblGeneIds (GRCh37): ENSG00000102359
OMIM: 300642, Gene2Phenotype
SRPX2 is in 4 panels

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

Comment when marking as ready: Not associated with cerebral vascular malformations
Created: 12 Dec 2016, 12:04 p.m.
Not associated with cerebral vascular malformations
Created: 12 Dec 2016, 12:04 p.m.

Details

Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Cerebral Malformation Disorders
OMIM
300642
Clinvar variants
Variants in SRPX2
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 SRPX2.

29 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SRPX2.

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)

SRPX2 was added to Cerebrovascular disorderspanel. Sources: UKGTN

9 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SRPX2 was created by ellenmcdonagh