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| Adult onset hereditary spastic paraplegia v1.95 | GBE1 | Ivone Leong Tag Q3_21_rating was removed from gene: GBE1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.95 | GBE1 | Sarah Leigh commented on gene: GBE1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.94 | GBE1 |
Ivone Leong Source Expert Review Green was added to GBE1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Adult onset hereditary spastic paraplegia v1.65 | GBE1 | Arina Puzriakova changed review comment from: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM. There is enough evidence to support a gene-disease association. GBE1 should be rated Green at the next review.; to: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM. There is enough evidence to support a gene-disease association. Transgenic homozygous mice also display late-onset spastic paraplegia. GBE1 should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.65 | GBE1 | Arina Puzriakova Publications for gene: GBE1 were set to 23034915 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.64 | GBE1 | Arina Puzriakova Tag Q3_21_rating tag was added to gene: GBE1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.64 | GBE1 | Arina Puzriakova Classified gene: GBE1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.64 | GBE1 | Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM. There is enough evidence to support a gene-disease association. GBE1 should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.64 | GBE1 | Arina Puzriakova Gene: gbe1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.63 | GBE1 | Arina Puzriakova Phenotypes for gene: GBE1 were changed from Polyglucosan body disease, adult form MIM#263570 to Polyglucosan body disease, adult form, OMIM:263570 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.7 | GBE1 |
Zornitza Stark gene: GBE1 was added gene: GBE1 was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GBE1 were set to 23034915 Phenotypes for gene: GBE1 were set to Polyglucosan body disease, adult form MIM#263570 Review for gene: GBE1 was set to GREEN gene: GBE1 was marked as current diagnostic Added comment: Spastic paraplegia is a reported as a prominent feature of the condition in 45/50 cases diagnosed with adult polyglucosan body disease. Sources: Expert list |
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