Cytopenias and congenital anaemias
Gene: PHF6EnsemblGeneIds (GRCh38): ENSG00000156531
EnsemblGeneIds (GRCh37): ENSG00000156531
OMIM: 300414, Gene2Phenotype
PHF6 is in 7 panels
2 reviews
Sarah Leigh (Genomics England Curator)
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 301900Created: 9 Mar 2017, 1:04 p.m.
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
Unknown
Phenotypes
Acute myeloid leukaemia (AML)
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- BRIDGE consortium (NIHRBR-RD)
- Phenotypes
-
- T-cell acute lymphoblastic leukemia
- Tags
- OMIM
- 300414
- Clinvar variants
- Variants in PHF6
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
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.
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for PHF6 were set to T-cell acute lymphoblastic leukemia
Set publications
Sarah Leigh (Genomics England Curator)Publications for PHF6 were set to 20228800
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for PHF6 were set to Acute myeloid leukaemia (AML)
Created
Louise Daugherty (Genomics England Curator)PHF6 was created by LouiseD
Added New Source
Louise Daugherty (Genomics England Curator)PHF6 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)