| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Neuronal ceroid lipofuscinosis type 2 v1.1 | Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neuronal ceroid lipofuscinosis type 2 v1.0 | Sarah Leigh promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neuronal ceroid lipofuscinosis type 2 v0.3 | Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neuronal ceroid lipofuscinosis type 2 v0.2 | Achchuthan Shanmugasundram Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neuronal ceroid lipofuscinosis type 2 v0.1 | TPP1 | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neuronal ceroid lipofuscinosis type 2 v0.1 | TPP1 | Achchuthan Shanmugasundram changed review comment from: TPP1 has been added to the panel for R271 Neuronal ceroid lipofuscinosis type 2 with a green rating as agreed with the NHS Genomic Medicine Service.; to: TPP1 has been added to the panel for R271 Neuronal ceroid lipofuscinosis type 2 with a green rating as agreed with the NHS Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neuronal ceroid lipofuscinosis type 2 v0.1 | TPP1 | Achchuthan Shanmugasundram commented on gene: TPP1: TPP1 has been added to the panel for R271 Neuronal ceroid lipofuscinosis type 2 with a green rating as agreed with the NHS Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neuronal ceroid lipofuscinosis type 2 v0.1 | TPP1 | Achchuthan Shanmugasundram reviewed gene: TPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neuronal ceroid lipofuscinosis type 2 v0.1 | TPP1 |
Achchuthan Shanmugasundram gene: TPP1 was added gene: TPP1 was added to Neuronal ceroid lipofuscinosis type 2. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal |
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| Neuronal ceroid lipofuscinosis type 2 v0.0 |
Achchuthan Shanmugasundram Added Panel Neuronal ceroid lipofuscinosis type 2 Set list of related panels to R271 Set panel types to: GMS Rare Disease |
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