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Fetal anomalies

Gene: ABI2

Green List (high evidence)
ABI2 (abl interactor 2)
EnsemblGeneIds (GRCh38): ENSG00000138443
EnsemblGeneIds (GRCh37): ENSG00000138443
OMIM: 606442, Gene2Phenotype
ABI2 is in 4 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Created: 10 Mar 2026, 12:27 p.m. | Last Modified: 10 Mar 2026, 12:27 p.m.
Panel Version: 6.149
This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.150

Stephanie Allen (Birmingham Women's NHS Foundation Trust)

Green List (high evidence)

Red on ID panel, not on any other panels. New paper PMID 40475134 - eight unrelated individuals with severe neurodevelopmental delays linked to heterozygous mostly de novo ABI2 missense variants (including a recurrent variant). macrocephaly, thinning/ hypoplasia of the corpus callosum, and remarkable white matter signal abnormalities. Mostly postnatally ascertained, but early postnatal presentation. One fetus short and hypoplastic corpus callosum 2nd trimester, macrocephaly present at birth in 2/4 individuals. Craniofacial dysmorphisms beyond macrocephaly were observed, including prominent forehead (3/6), flat or broad nasal bridge (2/6), and the following features each present in 1 of 6 individuals: short nose, anteverted nares, thin and tented upper lip, thick lips, low anterior hairline, bitemporal hollowing, and long face. Other anomalies included long fingers, broad great toes, and mild pes cavus. Also of note, corpus callosum anomalies have been shown in Abi2-deficient mice.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability, epilepsy, hypoplasia of the corpus callosum, and white matter abnormalities

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Intellectual disability, epilepsy, hypoplasia of the corpus callosum, and white matter abnormalities
Tags
gene-checked
OMIM
606442
Clinvar variants
Variants in ABI2
Penetrance
None
Panels with this gene

History Filter Activity

19 Mar 2026, Gel status: 3

Added Tag

Ida Ertmanska (Genomics England Curator)

Tag gene-checked tag was added to gene: ABI2.

10 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Intellectual disability, epilepsy, hypoplasia of the corpus callosum, and white matter abnormalities for gene: ABI2

9 Mar 2026, Gel status: 3

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: ABI2 was added gene: ABI2 was added to Fetal anomalies. Sources: Expert Review Green Mode of inheritance for gene: ABI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted