Retinal disorders
Gene: AP5M1
AP5M1 (adaptor related protein complex 5 mu 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000053770
EnsemblGeneIds (GRCh37): ENSG00000053770
OMIM: 614368, Gene2Phenotype
AP5M1 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000053770
EnsemblGeneIds (GRCh37): ENSG00000053770
OMIM: 614368, Gene2Phenotype
AP5M1 is in 1 panel
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, 11:26 a.m. | Last Modified: 26 Mar 2025, 11:26 a.m.
Panel Version: 7.16
Cassandra Smith (Genomics England)
Not yet findable in PubMed
Paper: https://www.cell.com/ajhg/fulltext/S0002-9297(25)00062-X
Identified three patients from three different families with biallelic LOF variants and macular dystrophy
Sources: LiteratureCreated: 13 Mar 2025, 10:50 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Lysosomal macular dystrophy
- Tags
- OMIM
- 614368
- Clinvar variants
- Variants in AP5M1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
26 Mar 2025, Gel status: 2
Added Tag, Added Tag
Sarah Leigh (Genomics England Curator)Tag Q1_25_ NHS_review tag was added to gene: AP5M1. Tag Q1_25_ promote_green tag was added to gene: AP5M1.
26 Mar 2025, Gel status: 2
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: AP5M1 were changed from to Lysosomal macular dystrophy
26 Mar 2025, Gel status: 2
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: AP5M1 were set to
26 Mar 2025, Gel status: 2
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: ap5m1 has been classified as Amber List (Moderate Evidence).
13 Mar 2025, Gel status: 0
Created, Added New Source, Set mode of inheritance
Cassandra Smith (Genomics England)gene: AP5M1 was added gene: AP5M1 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: AP5M1 was set to BIALLELIC, autosomal or pseudoautosomal Review for gene: AP5M1 was set to GREEN