| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Adult onset neurodegenerative disorder v3.49 | CTSA | Arina Puzriakova Tag Q1_23_promote_green was removed from gene: CTSA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v3.49 | CTSA | Arina Puzriakova reviewed gene: CTSA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v3.48 | CTSA |
Arina Puzriakova Source NHS GMS was added to CTSA. Source Expert Review Green was added to CTSA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Adult onset neurodegenerative disorder v3.36 | CTSA | Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: CTSA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v3.36 | CTSA |
Achchuthan Shanmugasundram changed review comment from: Comment on classification: This gene should be promoted to GREEN at the next GMS panel update as this gene has been implicated in >10 unrelated patients of multiple ancestry including Europeans and Chinese. The evidence from literature also confirms the adult-onset nature of this disorder. This gene has not yet been associated with this disorder caused by autosomal dominant inheritance in OMIM. However, it has already been associated with galactosialidosis (autosomal recessive disorder) ion both OMIM and G2P.; to: Comment on classification: This gene should be promoted to GREEN at the next GMS panel update as this gene has been implicated in >10 unrelated patients of multiple ancestry including Europeans and Chinese. The evidence from literature also confirms the adult-onset nature of this disorder. This gene has not yet been associated with this disorder caused by autosomal dominant inheritance in OMIM. However, it has already been associated with galactosialidosis (autosomal recessive disorder) in both OMIM and G2P. |
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| Adult onset neurodegenerative disorder v3.36 | CTSA |
Achchuthan Shanmugasundram changed review comment from: Comment on classification: This gene should be promoted to GREEN at the next GMS panel update as this gene has been implicated in >10 unrelated patients of multiple ancestry including Europeans and Chinese. The evidence from literature also confirms the adult-onset nature of this disorder. This gene has not yet been associated with this disorder caused by autosomal dominant inheritance in OMIM. However, it has already been associated with galactosialidosis (autosomal recessive disorder) ion both OMIM and G2P; to: Comment on classification: This gene should be promoted to GREEN at the next GMS panel update as this gene has been implicated in >10 unrelated patients of multiple ancestry including Europeans and Chinese. The evidence from literature also confirms the adult-onset nature of this disorder. This gene has not yet been associated with this disorder caused by autosomal dominant inheritance in OMIM. However, it has already been associated with galactosialidosis (autosomal recessive disorder) ion both OMIM and G2P. |
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| Adult onset neurodegenerative disorder v3.36 | CTSA |
Achchuthan Shanmugasundram changed review comment from: Comment on classification: This gene should be promoted to GREEN for adult-onset neurodegenerative disorders as this gene has been implicated in >10 unrelated patients of multiple ancestry including Europeans and Chinese. The evidence from literature also confirms the adult-onset nature of this disorder. This gene has not yet been associated with this disorder caused by autosomal dominant inheritance in OMIM. However, it has already been associated with galactosialidosis (autosomal recessive disorder) ion both OMIM and G2P; to: Comment on classification: This gene should be promoted to GREEN at the next GMS panel update as this gene has been implicated in >10 unrelated patients of multiple ancestry including Europeans and Chinese. The evidence from literature also confirms the adult-onset nature of this disorder. This gene has not yet been associated with this disorder caused by autosomal dominant inheritance in OMIM. However, it has already been associated with galactosialidosis (autosomal recessive disorder) ion both OMIM and G2P |
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| Adult onset neurodegenerative disorder v3.10 | CTSA |
Achchuthan Shanmugasundram changed review comment from: Comment on classification: This gene should be promoted to GREEN for adult-onset neurodegenerative disorders as this gene has been implicated in >10 unrelated patients of multiple ancestry including Europeans and Chinese. This gene has not yet been associated with this disorder caused by autosomal dominant inheritance in OMIM. However, it has already been associated with galactosialidosis (autosomal recessive disorder) ion both OMIM and G2P; to: Comment on classification: This gene should be promoted to GREEN for adult-onset neurodegenerative disorders as this gene has been implicated in >10 unrelated patients of multiple ancestry including Europeans and Chinese. The evidence from literature also confirms the adult-onset nature of this disorder. This gene has not yet been associated with this disorder caused by autosomal dominant inheritance in OMIM. However, it has already been associated with galactosialidosis (autosomal recessive disorder) ion both OMIM and G2P |
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| Adult onset neurodegenerative disorder v3.10 | CTSA | Achchuthan Shanmugasundram Phenotypes for gene: CTSA were changed from Cathepsin a-related arteriopathy-strokes-leukoencephalopathy, MONDO:0035551 to Cathepsin A-related arteriopathy-strokes-leukoencephalopathy, MONDO:0035551 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v3.9 | CTSA | Achchuthan Shanmugasundram Phenotypes for gene: CTSA were changed from to Cathepsin a-related arteriopathy-strokes-leukoencephalopathy, MONDO:0035551 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v3.8 | CTSA | Achchuthan Shanmugasundram Publications for gene: CTSA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v3.7 | CTSA | Achchuthan Shanmugasundram Mode of inheritance for gene: CTSA was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v3.6 | CTSA | Achchuthan Shanmugasundram Classified gene: CTSA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v3.6 | CTSA | Achchuthan Shanmugasundram Gene: ctsa has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v3.5 | CTSA |
Achchuthan Shanmugasundram changed review comment from: Comment on classification: This gene should be rated GREEN for adult-onset neurodegenerative disorders as this gene has been implicated in >10 unrelated patients of multiple ancestry including Europeans and Chinese. This gene has not yet been associated with this disorder caused by autosomal dominant inheritance in OMIM. However, it has already been associated with galactosialidosis (autosomal recessive disorder) ion both OMIM and G2P; to: Comment on classification: This gene should be promoted to GREEN for adult-onset neurodegenerative disorders as this gene has been implicated in >10 unrelated patients of multiple ancestry including Europeans and Chinese. This gene has not yet been associated with this disorder caused by autosomal dominant inheritance in OMIM. However, it has already been associated with galactosialidosis (autosomal recessive disorder) ion both OMIM and G2P |
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| Adult onset neurodegenerative disorder v3.5 | CTSA | Achchuthan Shanmugasundram reviewed gene: CTSA: Rating: GREEN; Mode of pathogenicity: None; Publications: 27664989, 28702507, 35904593; Phenotypes: cathepsin a-related arteriopathy-strokes-leukoencephalopathy, MONDO:0035551; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v3.4 | CTSA | Eleanor Williams reviewed gene: CTSA: Rating: ; Mode of pathogenicity: ; Publications: 35904593, 28702507, 27664989; Phenotypes: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v3.3 | CTSA |
Eleanor Williams gene: CTSA was added gene: CTSA was added to Neurodegenerative disorders - adult onset. Sources: Expert list Mode of inheritance for gene: CTSA was set to |
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