| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Lysosomal Storage Disorder v1.17 | AP5B1 | Bryony Thompson Marked gene: AP5B1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v1.17 | AP5B1 | Bryony Thompson Gene: ap5b1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v1.17 | AP5B1 | Bryony Thompson Classified gene: AP5B1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v1.17 | AP5B1 | Bryony Thompson Gene: ap5b1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v1.16 | AP5B1 |
Bryony Thompson gene: AP5B1 was added gene: AP5B1 was added to Lysosomal Storage Disorder. Sources: Literature Mode of inheritance for gene: AP5B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP5B1 were set to 40081374 Phenotypes for gene: AP5B1 were set to Hereditary macular dystrophy MONDO:0020242, AP-5 complex-related Review for gene: AP5B1 was set to AMBER Added comment: Currently only 2 unrelated cases with macular dystrophy (1 hom & 1 chet). The study also presents sufficient evidence for an association of another AP-5 complex gene (AP5Z1) with macular dystrophy. AP-5 complex proteins (AP5Z1, AP5M1, and AP5B1) display punctate localization in human RPE explants. The AP-5 complex containing AP5Z1, AP5M1, and AP5B1, is integral to lysosome function. AP-5 deficiency results in the accumulation of aberrant endolysosomes, which is a lysosome storage disorder. Sources: Literature |
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| Lysosomal Storage Disorder v1.14 | AP5M1 |
Bryony Thompson gene: AP5M1 was added gene: AP5M1 was added to Lysosomal Storage Disorder. Sources: Literature Mode of inheritance for gene: AP5M1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP5M1 were set to 40081374 Phenotypes for gene: AP5M1 were set to Hereditary macular dystrophy MONDO:0020242, AP-5 complex-related Review for gene: AP5M1 was set to GREEN Added comment: 3 unrelated cases with macular dystrophy and homozygous variants (2x nonsense & a missense). The study also presents sufficient evidence for an association of another AP-5 complex gene (AP5Z1) with macular dystrophy. AP-5 complex proteins (AP5Z1, AP5M1, and AP5B1) display punctate localization in human RPE explants. The AP-5 complex containing AP5Z1, AP5M1, and AP5B1, is integral to lysosome function. AP-5 deficiency results in the accumulation of aberrant endolysosomes, which is a lysosome storage disorder. Sources: Literature |
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