Rare anaemia

Gene: SF3B1

Red List (low evidence)

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

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red
Created: 22 Jul 2019, 3:36 p.m. | Last Modified: 22 Jul 2019, 3:36 p.m.
Panel Version: 0.60
Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SF3B1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: Unknown; Phenotypes: 605590 Refractory anaemia with ring sideroblasts; PMID(s): 28188970; 21995386
Created: 8 Feb 2019, 3:49 p.m.

Frances Smith (King's College Hospital)

Green List (high evidence)

Gene rating submitted by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group.
Created: 8 Feb 2019, 3:46 p.m.

Mode of inheritance
Unknown

Phenotypes
605590 Refractory anaemia with ring sideroblasts

Publications

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

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • NHS GMS
  • London South GLH
Phenotypes
  • 605590 Refractory anaemia with ring sideroblasts
OMIM
605590
Clinvar variants
Variants in SF3B1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jul 2019, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: sf3b1 has been classified as Red List (Low Evidence).

8 Feb 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to SF3B1. Mode of inheritance for gene SF3B1 was changed from to Unknown Added phenotypes 605590 Refractory anaemia with ring sideroblasts for gene: SF3B1 Rating Changed from Red List (low evidence) to Green List (high evidence)

8 Feb 2019, Gel status: 1

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes 605590 Refractory anaemia with ring sideroblasts for gene: SF3B1 Publications for gene SF3B1 were changed from to 21995386; 28188970

8 Feb 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SF3B1.

8 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: SF3B1 was added gene: SF3B1 was added to Rare anaemia. Sources: London South GLH Mode of inheritance for gene: SF3B1 was set to