Cytopenias and congenital anaemiasGene: U2AF1
Added 'somatic' tag since AML phenotype is the result of somatic variants in U2AF1 (e.g. PMID:22158538, PMID:22389253).
Created: 9 Mar 2017, 3:25 p.m.
Comment on list classification: Kept rating as Red: OMIM, further literature (e.g. PMID:21909114, and PMID:23029227) and COSMIC supports a somatic cause for the haematological phenotype.
Created: 9 Mar 2017, 3:15 p.m.
Somatic variants only, reported in COSMIC cancer gene census.
Created: 9 Mar 2017, 3:07 p.m.
Graubert et al. (2012, PMID:22158538) identified heterozygous somatic mutations affecting residue ser34 (S34F or S34Y) of the U2AF1 gene in bone marrow cells derived from 13 of 150 cases of myelodysplastic syndrome (MDS; 614286).
Created: 9 Mar 2017, 3:06 p.m.
Mode of inheritance
Acute myeloid leukaemia (AML); Myelodysplastic syndrome (MDS)
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.
Publications for U2AF1 were set to 22158538; 21909114; 23029227; 22389253
This gene has been classified as Red List (Low Evidence).
Publications for U2AF1 were set to 22158538; 21909114; 23029227
Publications for U2AF1 were set to 22158538
U2AF1 was created by LouiseD
U2AF1 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)