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| Lysosomal Storage Disorder v0.127 | HEXB |
Zornitza Stark changed review comment from: Well established gene-disease association. Sandhoff disease is a progressive neurodegenerative disorder characterized by an accumulation of GM2 gangliosides, particularly in neurons, and is clinically indistinguishable from Tay-Sachs disease. Weakness begins in the first 6 months of life. Startle reaction, early blindness, progressive neurological deterioration, doll-like face, cherry red spots, and macrocephaly are the typical clinical features.; to: Well established gene-disease association. Sandhoff disease is a progressive neurodegenerative disorder characterized by an accumulation of GM2 gangliosides, particularly in neurons, and is clinically indistinguishable from Tay-Sachs disease. Weakness begins in the first 6 months of life. Startle reaction, early blindness, progressive neurological deterioration, doll-like face, cherry red spots, and macrocephaly are the typical clinical features. Later onset, milder disease presenting with neurological signs such as ataxia has also been described. |
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| Lysosomal Storage Disorder v0.127 | HEXB |
Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Sandhoff disease is a progressive neurodegenerative disorder characterized by an accumulation of GM2 gangliosides, particularly in neurons, and is clinically indistinguishable from Tay-Sachs disease. Weakness begins in the first 6 months of life. Startle reaction, early blindness, progressive neurological deterioration, doll-like face, cherry red spots, and macrocephaly are the typical clinical features. |
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| Lysosomal Storage Disorder v0.127 | HEXB | Zornitza Stark Marked gene: HEXB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v0.127 | HEXB | Zornitza Stark Gene: hexb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v0.127 | HEXB | Zornitza Stark Phenotypes for gene: HEXB were changed from to Sandhoff disease, infantile, juvenile, and adult forms, MIM# 268800; MONDO:0010006 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v0.126 | HEXB | Zornitza Stark Mode of inheritance for gene: HEXB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v0.125 | HEXB | Zornitza Stark reviewed gene: HEXB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sandhoff disease, infantile, juvenile, and adult forms, MIM# 268800, MONDO:0010006; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v0.0 | HEXB |
Zornitza Stark gene: HEXB was added gene: HEXB was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HEXB was set to Unknown |
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