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| Early onset or syndromic epilepsy v9.91 | GSPT2 | Ida Ertmanska Classified gene: GSPT2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.91 | GSPT2 | Ida Ertmanska Added comment: Comment on list classification: There are now at least 5 unrelated male individuals reported with hemizygous missense variants in GSPT2 and a neurodevelopmental disorder. Three individuals presented with childhood-onset epilepsy. The variants were inherited from unaffected mothers. Hence, this gene can be promoted to Green on this panel, with MOI set to "X-LINKED: hemizygous mutation in males, biallelic mutations in females". | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.91 | GSPT2 | Ida Ertmanska Gene: gspt2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.90 | GSPT2 |
Ida Ertmanska gene: GSPT2 was added gene: GSPT2 was added to Early onset or syndromic epilepsy. Sources: Literature Q4_26_promote_green tags were added to gene: GSPT2. Mode of inheritance for gene: GSPT2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: GSPT2 were set to 41420488 Phenotypes for gene: GSPT2 were set to neurodevelopmental disorder, MONDO:0700092 Review for gene: GSPT2 was set to GREEN Added comment: PMID: 41420488 Wei et al., 2026 Study reports 6 male individuals from 6 unrelated Chinese families (including 1 fetal case) carrying hemizygous missense variants in GSPT2 with intellectual disability, delayed speech and language development, autism spectrum disorder, epilepsy, or abnormal fetal neurodevelopment. Severe ID / learning disability & DD were present in 5/5 individuals. Variable brain malformations and seizures were reported in 3 probands. Seizure age of onset was 9 months to 7 years. Functional evidence: Structural molecular modeling revealed significant deleterious effects of the identified variants. GSPT2 is preferentially enriched in the brain and cerebellum compared with other tissues. Transcriptomics revealed that GABAergic and calcium-signaling-related genes were significantly downregulated in GSPT2-deficient cells. GSPT2 is not yet associated with a disease entity in OMIM (accessed 27th Oct 2026). Sources: Literature |
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