Activity
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| Early onset or syndromic epilepsy v9.17 | SF3B1 | Ida Ertmanska changed review comment from: Comment on list classification: Comment on list classification: There are now numerous individuals reported with monoallelic (mostly de novo) variants in SF3B1 presenting with syndromic ID/GDD, with 13 individuals reported to have seizures. Based on available evidence, this gene can be promoted to Green at the next update.; to: Comment on list classification: There are now numerous individuals reported with monoallelic (mostly de novo) variants in SF3B1 presenting with syndromic ID/GDD, with 13 individuals reported to have seizures. Based on available evidence, this gene can be promoted to Green at the next update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.15 | SF3B1 | Ida Ertmanska Classified gene: SF3B1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.15 | SF3B1 | Ida Ertmanska Added comment: Comment on list classification: Comment on list classification: There are now numerous individuals reported with monoallelic (mostly de novo) variants in SF3B1 presenting with syndromic ID/GDD, with 13 individuals reported to have seizures. Based on available evidence, this gene can be promoted to Green at the next update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.15 | SF3B1 | Ida Ertmanska Gene: sf3b1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.14 | SF3B1 |
Ida Ertmanska gene: SF3B1 was added gene: SF3B1 was added to Early onset or syndromic epilepsy. Sources: Literature Q2_26_promote_green tags were added to gene: SF3B1. Mode of inheritance for gene: SF3B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SF3B1 were set to 25363760; 28135719; 41577671 Phenotypes for gene: SF3B1 were set to Complex neurodevelopmental disorder, MONDO:0100038 Review for gene: SF3B1 was set to GREEN Added comment: As reviewed by Karen Stals, Uguen et al. (PMID: 41577671, 2026) reported 26 patients with heterozygous SF3B1 variants. Most of them were confirmed to be de novo, with 3 cases where variant was inherited from a parent (2 parents with learning difficulties, and 1 asymptomatic father). Seq method: Trio or Solo WES. 3 patients had VUS variants in other genes. "Almost all (23/26) affected individuals exhibited at least one neurodevelopmental abnormality, the most frequent being language delay (21/26). Motor delay was found in 18/24 individuals. Intellectual disability (ID) was present in 9/15 individuals, some cases being too young (8/26) to assess. The severity of ID was mainly mild to moderate, only two individuals presenting with severe ID. Seizures were reported in 13 individuals, with variable ages of onset and types." Other features: hypotonia (11 patients), spastic quadriplegia (2 patients without NDD), non-specific brain MRI anomalies (4 cases), cleft palate or high-arched palate (12 patients), heart defects (8/25), postnatal short stature (6), IUGR (5), microcephaly (7/22 assessed). De novo missense variants in the SF3B1 gene have also been identified in ASD probands (PMID: 25363768 Iossifov et al., 2014 - 2 probands with ASD, harbouring SF3B1 variants c.1078A>G, p.Ile360Val & c.890C>A, p.Pro297His) and two probands with unspecified developmental disorders, with de novo SF3B1 variants c.1108C>T, p.Pro370Ser & c.1781G>A, p.Arg594Gln (PMID: 28135719 Deciphering Developmental Disorders Study 2017). SF3B1 is not yet associated with an NDD in OMIM, and it has not been classified in ClinGen (accessed 17th Jun 2026). The gene is Green in PanelApp Australia on 'Intellectual disability syndromic and non-syndromic' panel. Sources: Literature |
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