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Mendeliome

Gene: AGAP1

Amber List (moderate evidence)

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

1 review

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, 11:10 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cerebral palsy, MONDO:0006497, AGAP1-related

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cerebral palsy, MONDO:0006497, AGAP1-related
OMIM
608651
Clinvar variants
Variants in AGAP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Aug 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AGAP1 were changed from Cerebral palsy to Cerebral palsy, MONDO:0006497, AGAP1-related

6 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: agap1 has been classified as Amber List (Moderate Evidence).

6 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: agap1 has been classified as Amber List (Moderate Evidence).

6 Oct 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AGAP1 was added gene: AGAP1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: AGAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AGAP1 were set to 31700678; 25666757; 30472483 Phenotypes for gene: AGAP1 were set to Cerebral palsy Review for gene: AGAP1 was set to AMBER