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Cytopenias and congenital anaemias
Gene: SF3B1

SF3B1 (splicing factor 3b subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000115524
EnsemblGeneIds (GRCh37): ENSG00000115524
OMIM: 605590, Gene2Phenotype
SF3B1 is in 2 panels

2 reviews

Helen Brittain (Genomics England Curator)

Red List (low evidence)

Somatic. Mutations associated with MDS
Created: 9 Mar 2017, 4:32 p.m.

Mode of inheritance
Other - please specify in evaluation comments

Phenotypes
Myelodysplastic syndrome, somatic, 614286

Created: 9 Mar 2017, 4:32 p.m.

Panel version: 0.522

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
Unknown

Phenotypes
Myelodysplastic syndrome (MDS), Adult

Publications

22343734

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

Other - please specify in evaluation comments

Sources

Expert Review Red
Radboud University Medical Center, Nijmegen

Phenotypes

Myelodysplastic syndrome, somatic, 614286

Tags

somatic

OMIM

605590

Clinvar variants

Variants in SF3B1

Penetrance

Complete

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 Mode of Inheritance, Added New Source

Sarah Leigh (Genomics England Curator)

SF3B1 was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Red Model of inheritance for gene SF3B1 was set to Other - please specify in evaluation comments

17 Feb 2017, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

SF3B1 was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen

17 Feb 2017, Gel status: 0

Created