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  3. U2AF1
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Cytopenias and congenital anaemias

Gene: U2AF1

Red List (low evidence)
U2AF1 (U2 small nuclear RNA auxiliary factor 1)
EnsemblGeneIds (GRCh38): ENSG00000160201
EnsemblGeneIds (GRCh37): ENSG00000160201
OMIM: 191317, Gene2Phenotype
U2AF1 is in 1 panel

2 reviews

Rebecca Foulger (Genomics England curator)

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.
Created: 9 Mar 2017, 3:16 p.m.

Panel version: 0.511

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
Unknown

Phenotypes
Acute myeloid leukaemia (AML); Myelodysplastic syndrome (MDS)

Variants in this GENE are reported as part of current diagnostic practice

Created: 16 Jan 2017, 3:47 p.m.

Panel version: Imported from "Anaemias and red cell disorders" panel version 0.9

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Acute myeloid leukaemia (AML)
  • Myelodysplastic syndrome (MDS)
Tags
somatic
OMIM
191317
Clinvar variants
Variants in U2AF1
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

Set publications

Rebecca Foulger (Genomics England curator)

Publications for U2AF1 were set to 22158538; 21909114; 23029227; 22389253

9 Mar 2017, Gel status: 1

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

9 Mar 2017, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for U2AF1 were set to 22158538; 21909114; 23029227

9 Mar 2017, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for U2AF1 were set to 22158538

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

U2AF1 was created by LouiseD

17 Feb 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

U2AF1 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)