Cerebral Palsy
Gene: AGAP1

AGAP1 (ArfGAP with GTPase domain, ankyrin repeat and PH domain 1)
EnsemblGeneIds (GRCh38): ENSG00000157985
EnsemblGeneIds (GRCh37): ENSG00000157985
OMIM: 608651, Gene2Phenotype
AGAP1 is in 2 panels

2 reviews

Clare van Eyk (University of Adelaide)

I don't know

An additional three patients with heterozygous microdeletions and phenotypic overlap with previously described patients, but none with a CP diagnosis (PMID:36778426, PMID: 37470098). Overall 4/10 patients with an AGAP1 variant have CP, however not all of these were classified as pathogenic and 2/3 of the new microdeletions are inherited suggesting incomplete penetrance. Authors show that mutant Drosophila have increased lethality from exposure to environmental insult.
Created: 3 Aug 2023, 2:05 a.m. | Last Modified: 3 Aug 2023, 2:07 a.m.

Panel Version: 1.178

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
cerebral palsy; intellectual disability; autism

Publications

PMID: 36778426

Created: 3 Aug 2023, 2:05 a.m.
Last Modified: 3 Aug 2023, 2:07 a.m.
Panel version: 1.178

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two individuals reported with de novo variants in this gene and a CP phenotype. Rare variants over-represented in a case-control study. Supportive zebrafish model. Another individual with a deletion (+1 other gene) reported with ID and autism.
Sources: Literature
Created: 6 Oct 2020, 11:04 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cerebral palsy

Publications

Created: 6 Oct 2020, 11:04 p.m.

Panel version: 0.41

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
Literature

Phenotypes

Cerebral palsy, MONDO:0006497, AGAP1-related

Tags

SV/CNV

OMIM

608651

Clinvar variants

Variants in AGAP1

Penetrance

None

Publications

Panels with this gene