Cytopenias and congenital anaemiasGene: PHF6
Comment when marking as ready: PMID 20228800 identified somatic inactivating mutations and deletions of the PHF6 gene in 16% (14 of 89) of pediatric and 38% (16 of 42) of adult primary T-ALL samples, most of which were derived from male patients. Germline variants associated with phenotype Borjeson-Forssman-Lehmann syndrome 301900 in OMIM and as a confirmed G2P. At least 11 variants reported, however, this phenotype is not relevant to the Cytopaenias and congenital anaemias panel)
Created: 9 Mar 2017, 3:02 p.m.
Comment on phenotypes: Germline variants associated with Borjeson-Forssman-Lehmann syndrome 301900
Created: 9 Mar 2017, 1:04 p.m.
Mode of inheritance
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.
This gene has been classified as Red List (Low Evidence).
Phenotypes for PHF6 were set to T-cell acute lymphoblastic leukemia
Publications for PHF6 were set to 20228800
Phenotypes for PHF6 were set to Acute myeloid leukaemia (AML)
PHF6 was created by LouiseD
PHF6 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)