Syndromic Retinopathy
Gene: AGPAT3EnsemblGeneIds (GRCh38): ENSG00000160216
EnsemblGeneIds (GRCh37): ENSG00000160216
OMIM: 614794, Gene2Phenotype
AGPAT3 is in 3 panels
1 review
Ee Ming Wong (Victorian Clinical Genetics Services)
- Single consanguineous family with four individuals with severe intellectual disability and retinitis pigmentosa
- All affected individuals were homozygous for a nonsense variant in AGPAT3, healthy unaffected individuals who were tested were heterozygous for the variant
- Overexpression of mutant transcript revealed absence of AGPAT3 protein compared to WT transcript via Western blot analysis
- KO AGPAT3 mouse demonstrated impaired neuronal migration
Sources: LiteratureCreated: 2 Nov 2023, 1:35 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder (MONDO#0700092), AGPAT3-related
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Neurodevelopmental disorder (MONDO#0700092), AGPAT3-related
- OMIM
- 614794
- Clinvar variants
- Variants in AGPAT3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: agpat3 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: agpat3 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ee Ming Wong (Victorian Clinical Genetics Services)gene: AGPAT3 was added gene: AGPAT3 was added to Syndromic Retinopathy. Sources: Literature 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 Neurodevelopmental disorder (MONDO#0700092), AGPAT3-related Review for gene: AGPAT3 was set to GREEN gene: AGPAT3 was marked as current diagnostic