Cytopenias and congenital anaemias
Gene: SRSF2
SRSF2 (serine and arginine rich splicing factor 2)
EnsemblGeneIds (GRCh38): ENSG00000161547
EnsemblGeneIds (GRCh37): ENSG00000161547
OMIM: 600813, Gene2Phenotype
SRSF2 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000161547
EnsemblGeneIds (GRCh37): ENSG00000161547
OMIM: 600813, Gene2Phenotype
SRSF2 is in 1 panel
2 reviews
Helen Brittain (Genomics England Curator)
Publications to date have been in myelodysplastic cell lines and delineate the pathway to MDS. Insufficient evidence of germline mutation associated with a relevant phenotype.Created: 9 Mar 2017, 4:32 p.m.
Mode of inheritance
Unknown
Phenotypes
Myelodysplastic syndrome (MDS), Paediatric
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- BRIDGE consortium (NIHRBR-RD)
- Phenotypes
-
- Myelodysplastic syndrome (MDS), Paediatric
- OMIM
- 600813
- Clinvar variants
- Variants in SRSF2
- 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
Added New Source
Sarah Leigh (Genomics England Curator)SRSF2 was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Red
9 Mar 2017, Gel status: 0
Set publications
Rebecca Foulger (Genomics England curator)Publications for SRSF2 were set to 22238327; 22343734; 22389253
17 Feb 2017, Gel status: 0
Added New Source
Louise Daugherty (Genomics England Curator)SRSF2 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)
17 Feb 2017, Gel status: 0
Created
Louise Daugherty (Genomics England Curator)SRSF2 was created by LouiseD