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Intellectual disability

Gene: GAP43

Red List (low evidence)
GAP43 (growth associated protein 43)
EnsemblGeneIds (GRCh38): ENSG00000172020
EnsemblGeneIds (GRCh37): ENSG00000172020
OMIM: 162060, Gene2Phenotype
GAP43 is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

Comment on publications: PMID:39738362 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.
Created: 25 Mar 2025, 10:12 a.m. | Last Modified: 25 Mar 2025, 10:12 a.m.
Panel Version: 8.190
PMID:39738362 reported the identification of a heterozygous missense variant in the GAP43 gene (p.(Glu146Lys)) in a 15-year-old female patient with moderate intellectual disability, neurodevelopmental disorders, short stature, and skeletal abnormalities such as left-right difference in legs and digital deformities.

The variant GAP43 protein was found to be unstable in neuronal cells and the disruption of Gap43 in mouse embryonic cortical neurons impaired axonal elongation and dendrite formation.

There were six previous cases reported with GAP43 abnormalities (3 involving deletion of a region including GAP43, two siblings with duplication and one SNV). Only one of the siblings with region duplication had moderate ID, while the other sibling and another patient with region deletion had mild ID.

This gene has not yet been associated with phenotypes either in OMIM or in Gene2Phenotype.
Sources: Literature
Created: 25 Mar 2025, 10:08 a.m. | Last Modified: 25 Mar 2025, 10:10 a.m.
Panel Version: 8.189

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071

Publications

Created: 25 Mar 2025, 10:08 a.m.
Last Modified: 25 Mar 2025, 10:10 a.m.
Panel version: 8.188

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
  • intellectual disability, MONDO:0001071
OMIM
162060
Clinvar variants
Variants in GAP43
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Mar 2025, Gel status: 1

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: GAP43 were set to 39738362

25 Mar 2025, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: GAP43 was added gene: GAP43 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: GAP43 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GAP43 were set to 39738362 Phenotypes for gene: GAP43 were set to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 Review for gene: GAP43 was set to RED