Cerebral vascular malformations

Gene: PTEN

Red List (low evidence)

PTEN (phosphatase and tensin homolog)
EnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 53 panels

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

Cerebral vascular malformations not a prominent feature of PTEN related disease
Created: 12 Dec 2016, 4:42 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Bannayan-Riley-Ruvalcaba syndrome 153480

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Bannayan-Riley-Ruvalcaba Syndrome
OMIM
601728
Clinvar variants
Variants in PTEN
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 PTEN.

29 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PTEN.

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)

PTEN was added to Cerebrovascular disorderspanel. Sources: UKGTN

9 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PTEN was created by ellenmcdonagh