White matter disorders and cerebral calcification - narrow panel

Gene: ABI2

Green List (high evidence)

Comment on list classification: This gene will be recommended for a promotion to Green once the pre-print article is published.

Created: 27 Feb 2026, 5:33 p.m. | Last Modified: 27 Feb 2026, 5:33 p.m.

Panel Version: 7.12

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

Created: 27 Feb 2026, 5:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental disorder, MONDO:0700092

Publications

• 40475134