Intellectual disability
Gene: SF3B1

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

1 review

Karen Stals (Royal Devon and Exeter Hospital)

Green List (high evidence)

PMID: 41577671 report 26 individuals with a neurodevelopmental disorder and a SF3B1 heterozygous variant - loss of function (n = 9) and missense variants (n = 17) (mostly de novo), authors propose a more severe phenotype associated with missense variants
Sources: Literature
Created: 11 Jun 2026, 11:19 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder; language impairment; developmental delay; seizures; dysmorphism; congenital anomalies

Publications

PMID: 41577671

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

Created: 11 Jun 2026, 11:19 a.m.

Panel version: 10.18

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Phenotypes

Neurodevelopmental disorder
language impairment
developmental delay
seizures
dysmorphism
congenital anomalies

OMIM

605590

Clinvar variants

Variants in SF3B1

Penetrance

None

Publications

PMID: 41577671

Panels with this gene

History Filter Activity

11 Jun 2026, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Karen Stals (Royal Devon and Exeter Hospital)

gene: SF3B1 was added gene: SF3B1 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: SF3B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SF3B1 were set to PMID: 41577671 Phenotypes for gene: SF3B1 were set to Neurodevelopmental disorder; language impairment; developmental delay; seizures; dysmorphism; congenital anomalies Review for gene: SF3B1 was set to GREEN gene: SF3B1 was marked as current diagnostic

Intellectual disability Gene: SF3B1