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Cytopenias and congenital anaemias

Gene: PHF6

Red List (low evidence)

PHF6 (PHD finger protein 6)
EnsemblGeneIds (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 301900
Created: 9 Mar 2017, 1:04 p.m.

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

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
somatic
OMIM
300414
Clinvar variants
Variants in PHF6
Penetrance
Complete
Publications
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

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

9 Mar 2017, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for PHF6 were set to T-cell acute lymphoblastic leukemia

9 Mar 2017, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for PHF6 were set to 20228800

9 Mar 2017, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for PHF6 were set to Acute myeloid leukaemia (AML)

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

PHF6 was created by LouiseD

17 Feb 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

PHF6 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)