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Cytopenias and congenital anaemias

Gene: PTEN

Red List (low evidence)

PTEN (phosphatase and tensin homolog)
EnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 55 panels

2 reviews

Helen Brittain (Genomics England Curator)

Red List (low evidence)

Germline mutations are associated with Cowden syndrome / Banayan-Riley-Ruvalcaba which do not have a clear haematological presentation. Not appropriate for inclusion. This gene is implicated in a number of malignancies in somatic mutations which is out of scope for the rare disease aspect of the project.
Created: 9 Mar 2017, 4:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Bannayan-Riley-Ruvalcaba syndrome 153480; Cowden syndrome 1 158350; Lhermitte-Duclos syndrome 158350; Macrocephaly/autism syndrome 605309; PTEN hamartoma tumor syndrome

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
Unknown

Phenotypes
Myelodysplastic syndrome (MDS), Adult; Myelodysplastic syndrome (MDS), Paediatric; Acute myeloid leukaemia (AML)

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Myelodysplastic syndrome (MDS), Adult
  • Myelodysplastic syndrome (MDS), Paediatric
  • Acute myeloid leukaemia (AML)
OMIM
601728
Clinvar variants
Variants in PTEN
Penetrance
Complete
Panels with this gene

History Filter Activity

11 Mar 2017, Gel status: 1

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

9 Mar 2017, Gel status: 1

Set Mode of Inheritance, Added New Source

Sarah Leigh (Genomics England Curator)

PTEN was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Red Model of inheritance for gene PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

PTEN was created by LouiseD

17 Feb 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

PTEN was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)