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DDG2P

Gene: AGPAT3

Red List (low evidence)
AGPAT3 (1-acylglycerol-3-phosphate O-acyltransferase 3)
EnsemblGeneIds (GRCh38): ENSG00000160216
EnsemblGeneIds (GRCh37): ENSG00000160216
OMIM: 614794, Gene2Phenotype
AGPAT3 is in 2 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category for the disease AGPAT3-related intellectual disability and retinitis pigmentosa is limited. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 37821758).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.
Panel Version: 4.10

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
AGPAT3-related intellectual disability and retinitis pigmentosa

Publications

Created: 26 Sep 2024, 8:30 p.m.
Last Modified: 26 Sep 2024, 8:30 p.m.
Panel version: 4.10

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • AGPAT3-related intellectual disability and retinitis pigmentosa
OMIM
614794
Clinvar variants
Variants in AGPAT3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: AGPAT3 was added gene: AGPAT3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: AGPAT3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGPAT3 were set to 37821758 Phenotypes for gene: AGPAT3 were set to AGPAT3-related intellectual disability and retinitis pigmentosa