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Intellectual disability

Gene: ABI2

Amber List (moderate evidence)
ABI2 (abl interactor 2)
EnsemblGeneIds (GRCh38): ENSG00000138443
EnsemblGeneIds (GRCh37): ENSG00000138443
OMIM: 606442, Gene2Phenotype
ABI2 is in 3 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

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, 5:18 p.m. | Last Modified: 27 Feb 2026, 5:18 p.m.
Panel Version: 9.282
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).
Created: 27 Feb 2026, 5:17 p.m. | Last Modified: 27 Feb 2026, 5:17 p.m.
Panel Version: 9.281

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental disorder, MONDO:0700092

Publications

Created: 27 Feb 2026, 5:17 p.m.
Last Modified: 27 Feb 2026, 5:17 p.m.
Panel version: 9.281

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

Comment on publications: PMID:39774290 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.

PMID:39774290 is a secondary publication and the relevant case described in this publication was originally from the primary publication PMID:28397838.
Created: 25 Mar 2025, 7:36 p.m. | Last Modified: 25 Mar 2025, 7:36 p.m.
Panel Version: 8.214
PMID:28397838 reported the identification of variants in a cohort of 192 multiplex Pakistani and Iranian consanguineous families with non-syndromic ID by combining microarray genotyping, homozygosity-by-descent (HBD) mapping, copy number variation (CNV) analysis, and whole exome sequencing (WES). This study identified a patient with homozygous loss-of-function variant in ABI2 gene (p.(Arg132Ter)).

This gene has not yet been associated with phenotypes either in OMIM or in Gene2Phenotype.
Sources: Literature
Created: 25 Mar 2025, 7:35 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
intellectual disability, MONDO:0001071

Publications

Created: 25 Mar 2025, 7:35 p.m.

Panel version: 8.213

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • intellectual disability, MONDO:0001071
  • neurodevelopmental disorder, MONDO:0700092
OMIM
606442
Clinvar variants
Variants in ABI2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Feb 2026, Gel status: 2

Set publications

Ida Ertmanska (Genomics England Curator)

Publications for gene: ABI2 were set to 28397838; 39774290

27 Feb 2026, Gel status: 2

Set Phenotypes

Ida Ertmanska (Genomics England Curator)

Phenotypes for gene: ABI2 were changed from intellectual disability, MONDO:0001071 to intellectual disability, MONDO:0001071; neurodevelopmental disorder, MONDO:0700092

27 Feb 2026, Gel status: 2

Set mode of inheritance

Ida Ertmanska (Genomics England Curator)

Mode of inheritance for gene: ABI2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

27 Feb 2026, Gel status: 2

Entity classified by Genomics England curator

Ida Ertmanska (Genomics England Curator)

Gene: abi2 has been classified as Amber List (Moderate Evidence).

25 Mar 2025, Gel status: 1

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: ABI2 were set to 28397838; 39774290

25 Mar 2025, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: ABI2 was added gene: ABI2 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: ABI2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABI2 were set to 28397838; 39774290 Phenotypes for gene: ABI2 were set to intellectual disability, MONDO:0001071 Review for gene: ABI2 was set to RED