Activity
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| Early onset or syndromic epilepsy v8.125 | ABI2 | Ida Ertmanska Classified gene: ABI2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.125 | ABI2 | Ida Ertmanska Gene: abi2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.124 | ABI2 | Ida Ertmanska edited their review of gene: ABI2: Added comment: Comment on list classification: This gene will be recommended for a promotion to Green once the pre-print article is published.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.124 | ABI2 |
Ida Ertmanska gene: ABI2 was added gene: ABI2 was added to Early onset or syndromic epilepsy. Sources: Expert list,Literature Mode of inheritance for gene: ABI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ABI2 were set to 40475134 Phenotypes for gene: ABI2 were set to neurodevelopmental disorder, MONDO:0700092 Review for gene: ABI2 was set to AMBER Added comment: PMID: 40475134 Argilli et al., 2025 - PRE-PRINT Report of 8 unrelated individuals with severe neurodevelopmental delays linked to heterozygous ABI2 missense variants, including a recurrent c.1472A>G, p.Tyr491Cys (6/8 individuals, confirmed de novo in 4). ABI2 c.1388T>C, p.Val463Ala was observed de novo in individual 7, and ABI2 c.1348C>T, p.Pro450Ser was detected in individual 8 (origin unknown). Seq method: Trio/singleton exome. Shared syndromic presentation with intellectual disability (7/7), epilepsy (6/7, 4 patients with onset under 2yo), hypoplasia of the corpus callosum (7/8), white matter abnormalities, hypotonia (5/6), developmental delay (7/7, moderate to severe, 2 with regression of skills) + other less common features. ABI2 is not yet associated with a phenotype in OMIM (checked 27th Feb 2026). Sources: Expert list, Literature |
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