Retinal disorders
Gene: AP5Z1EnsemblGeneIds (GRCh38): ENSG00000242802
EnsemblGeneIds (GRCh37): ENSG00000242802
OMIM: 613653, Gene2Phenotype
AP5Z1 is in 7 panels
2 reviews
Sarah Leigh (Genomics England Curator)
In PMID: 40081374, Kaminska et al report variants in three of the genes which encode different subunits of the vesicular fifth adaptor protein (AP-5) complex: AP5Z1, AP5M1, and AP5B1, in patients with a specific form of macular degeneration. Seventeen biallelic AP5Z1 variants were been reported in fourteen unrelated families, three homozygous AP5M1 variant were found in three unrelated cases and three biallelic AP5B1 variants were found in two unrelated cases. Due to the involvement of variants in the AP-5 complex, the authors suggest that the resultant condition should be called lysosomal macular dystrophy.Created: 26 Mar 2025, 11:15 a.m. | Last Modified: 26 Mar 2025, 11:22 a.m.
Panel Version: 7.13
Siying Lin (Moorfields Eye Hospital)
14 families affected with macular dystrophy with biallelic AP5Z1 variants (mostly loss of function variants)
Sources: LiteratureCreated: 17 Mar 2025, 8:51 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Macular dystrophy
Publications
- PMID: 40081374
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Lysosomal macular dystrophy
- Tags
- OMIM
- 613653
- Clinvar variants
- Variants in AP5Z1
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: AP5Z1 were changed from Hereditary lysosomal macular dystrophy to Lysosomal macular dystrophy
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: AP5Z1 were changed from Hereditary macular dystrophy to Hereditary lysosomal macular dystrophy
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: AP5Z1 were changed from Macular dystrophy to Hereditary macular dystrophy
Added Tag, Added Tag
Sarah Leigh (Genomics England Curator)Tag Q1_25_ NHS_review tag was added to gene: AP5Z1. Tag Q1_25_ promote_green tag was added to gene: AP5Z1.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: ap5z1 has been classified as Amber List (Moderate Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: AP5Z1 were set to PMID: 40081374
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Siying Lin (Moorfields Eye Hospital)gene: AP5Z1 was added gene: AP5Z1 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: AP5Z1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP5Z1 were set to PMID: 40081374 Phenotypes for gene: AP5Z1 were set to Macular dystrophy Mode of pathogenicity for gene: AP5Z1 was set to Other Review for gene: AP5Z1 was set to GREEN