Red cell disorders
Gene: SF3B1EnsemblGeneIds (GRCh38): ENSG00000115524
EnsemblGeneIds (GRCh37): ENSG00000115524
OMIM: 605590, Gene2Phenotype
SF3B1 is in 3 panels
1 review
Danielle Ariti (University of Melbourne)
Somatic mutations associated with Myelodysplastic syndrome (MDS) particularly in the presence of ring sideroblasts.
PMID: 21995386- reported somatic mutations associated with MDS. 72/354 (20%) patients with MDS had mutations in the SF3B1 gene; 68% of these patients had refractory anaemia with ringed sideroblasts.Created: 16 Sep 2021, 3:35 a.m. | Last Modified: 16 Sep 2021, 3:35 a.m.
Panel Version: 0.153
Mode of inheritance
Other
Phenotypes
Myelodysplastic syndrome, somatic MIM# 614286
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Red
- London South GLH
- NHS GMS
- Phenotypes
-
- Myelodysplastic syndrome, somatic MIM# 614286
- Tags
- OMIM
- 605590
- Clinvar variants
- Variants in SF3B1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sf3b1 has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SF3B1 were changed from 605590 Refractory anaemia with ring sideroblasts to Myelodysplastic syndrome, somatic MIM# 614286
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: SF3B1 was changed from Unknown to Other
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag somatic tag was added to gene: SF3B1.
Set Phenotypes, Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Added phenotypes 605590 Refractory anaemia with ring sideroblasts for gene: SF3B1 Publications for gene SF3B1 were updated from 21995386; 28188970 to 28188970; 21995386
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SF3B1 was added gene: SF3B1 was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Red,London South GLH Mode of inheritance for gene: SF3B1 was set to Unknown Publications for gene: SF3B1 were set to 21995386; 28188970 Phenotypes for gene: SF3B1 were set to 605590 Refractory anaemia with ring sideroblasts