Cytopenias and congenital anaemias
Gene: PTEN
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
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
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
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
PTEN was created by LouiseD
PTEN was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)