| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Adult onset hereditary spastic paraplegia v1.95 | GALC | Ivone Leong Tag Q3_21_rating was removed from gene: GALC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.95 | GALC | Sarah Leigh commented on gene: GALC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.94 | GALC |
Ivone Leong Source Expert Review Green was added to GALC. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Adult onset hereditary spastic paraplegia v1.62 | GALC | Arina Puzriakova Tag Q3_21_rating tag was added to gene: GALC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.62 | GALC | Arina Puzriakova Classified gene: GALC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.62 | GALC | Arina Puzriakova Gene: galc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.61 | GALC | Arina Puzriakova Classified gene: GALC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.61 | GALC | 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 and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.61 | GALC | Arina Puzriakova Gene: galc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.60 | GALC | Arina Puzriakova reviewed gene: GALC: Rating: GREEN; Mode of pathogenicity: None; Publications: 9272171, 11971051, 21070211, 22959700, 26915362, 32064984; Phenotypes: Krabbe disease, OMIM:245200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.60 | GALC | Arina Puzriakova Phenotypes for gene: GALC were changed from Krabbe disease MIM#245200 to Krabbe disease, OMIM:245200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.7 | GALC |
Zornitza Stark gene: GALC was added gene: GALC was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALC were set to 9272171; 11971051; 22959700; 26396125; 26915362; 28547031; 31185936; 32064984 Phenotypes for gene: GALC were set to Krabbe disease MIM#245200 Review for gene: GALC was set to GREEN gene: GALC was marked as current diagnostic Added comment: Adult onset spastic paraplegia is reported as a feature of the condition in greater than 3 cases. Sources: Expert list |
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