Retinal disorders
Gene: AP5B1EnsemblGeneIds (GRCh38): ENSG00000254470
EnsemblGeneIds (GRCh37): ENSG00000254470
OMIM: 614367, Gene2Phenotype
AP5B1 is in 1 panel
3 reviews
Ida Ertmanska (Genomics England Curator)
Comment on list classification: There are now 4 unrelated cases with biallelic AP5B1 variants and retinal disease. Hence, this gene can be promoted to Green at the next update, with MOI set to BIALLELIC, autosomal or pseudoautosomal.Created: 15 Apr 2026, 9:26 a.m. | Last Modified: 15 Apr 2026, 9:26 a.m.
Panel Version: 8.121
2 unrelated cases reported in PMID: 40081374 - see review by Sarah Leigh.
New cases:
PMID: 41830174 Hussain et al., 2026
2 unrelated European families reported with biallelic AP5B1 variants and AP5B1-related retinopathy.
Family 4: female proband, homozygous for AP5B1: c. 2354T>C, p.Leu785Pro. Diagnosed with retinal dystrophy at age 33yrs.
Family 5: female proband, age 44yrs (disease onset at 39yrs), with compound het AP5B1 variants: c. 2354T>C, p.Leu785Pro & c.188delA, p.Gln63Argfs*95.
This gene is not yet associated with a phenotype in OMIM (accessed 15th Apr 2026).Created: 15 Apr 2026, 9:25 a.m. | Last Modified: 21 Apr 2026, 2:43 p.m.
Panel Version: 8.124
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
macular dystrophy, retinal, MONDO:0031166
Publications
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, 11:27 a.m. | Last Modified: 26 Mar 2025, 11:27 a.m.
Panel Version: 7.16
Siying Lin (Moorfields Eye Hospital)
2 individuals from 2 families with biallelic loss of function variants and macular dystrophy
Sources: LiteratureCreated: 17 Mar 2025, 8:52 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
-
- macular dystrophy, retinal, MONDO:0031166
- Tags
- OMIM
- 614367
- Clinvar variants
- Variants in AP5B1
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Set publications
Ida Ertmanska (Genomics England Curator)Publications for gene: AP5B1 were set to 40081374
Set Phenotypes
Ida Ertmanska (Genomics England Curator)Phenotypes for gene: AP5B1 were changed from Lysosomal macular dystrophy to macular dystrophy, retinal, MONDO:0031166
Entity classified by Genomics England curator
Ida Ertmanska (Genomics England Curator)Gene: ap5b1 has been classified as Amber List (Moderate Evidence).
Added Tag
Ida Ertmanska (Genomics England Curator)Tag Q2_26_promote_green tag was added to gene: AP5B1.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: AP5B1 were changed from Macular dystrophy to Lysosomal macular dystrophy
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: AP5B1 were set to PMID 40081374
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: ap5b1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Siying Lin (Moorfields Eye Hospital)gene: AP5B1 was added gene: AP5B1 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: AP5B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP5B1 were set to PMID 40081374 Phenotypes for gene: AP5B1 were set to Macular dystrophy Mode of pathogenicity for gene: AP5B1 was set to Other Review for gene: AP5B1 was set to GREEN