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| Lysosomal Storage Disorder v0.143 | LAMP2 | Zornitza Stark edited their review of gene: LAMP2: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v0.143 | LAMP2 |
Zornitza Stark changed review comment from: XLD. Vacuolar cardiomyopathy and myopathy. Gene encodes lysosome-associated membrane protein-2.; to: XLD. Gene encodes lysosome-associated membrane protein-2. Danon disease is an X-linked dominant disorder predominantly affecting cardiac muscle. Skeletal muscle involvement and mental retardation are variable features. The accumulation of glycogen in muscle and lysosomes originally led to the classification of Danon disease as a variant of glycogen storage disease II (Pompe disease) with 'normal acid maltase' or alpha-glucosidase, however, it may be more accurately classified as a lysosomal disorder. |
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| Lysosomal Storage Disorder v0.143 | LAMP2 | Zornitza Stark Mode of inheritance for gene: LAMP2 was changed from Other to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v0.142 | LAMP2 | Zornitza Stark Marked gene: LAMP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v0.142 | LAMP2 | Zornitza Stark Gene: lamp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v0.142 | LAMP2 | Zornitza Stark Phenotypes for gene: LAMP2 were changed from to Danon disease, MIM# 300257; MONDO:0010281 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v0.141 | LAMP2 | Zornitza Stark Mode of inheritance for gene: LAMP2 was changed from Unknown to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v0.140 | LAMP2 | Zornitza Stark changed review comment from: XLD. Vacuolar cardiomyopathy and myopathy.; to: XLD. Vacuolar cardiomyopathy and myopathy. Gene encodes lysosome-associated membrane protein-2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v0.140 | LAMP2 | Zornitza Stark reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Danon disease, MIM# 300257, MONDO:0010281; Mode of inheritance: Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v0.0 | LAMP2 |
Zornitza Stark gene: LAMP2 was added gene: LAMP2 was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LAMP2 was set to Unknown |
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