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| 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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| Lysosomal Storage Disorder v1.13 | AP5Z1 | Bryony Thompson Marked gene: AP5Z1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v1.13 | AP5Z1 | Bryony Thompson Gene: ap5z1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v1.13 | AP5Z1 | Bryony Thompson reviewed gene: AP5Z1: Rating: GREEN; Mode of pathogenicity: None; Publications: 40081374, 29381698, 26085577; Phenotypes: Spastic paraplegia 48, autosomal recessive, MIM# 613647; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v1.11 | AP5Z1 |
Bryony Thompson gene: AP5Z1 was added gene: AP5Z1 was added to Lysosomal Storage Disorder. Sources: Expert Review Green Mode of inheritance for gene: AP5Z1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP5Z1 were set to 26085577; 29884839 Phenotypes for gene: AP5Z1 were set to Disorders of autophagy; hereditary spastic paraplegia MONDO:0019064 |
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