Activity
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9 actions
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| Glycogen storage disease v1.7 | PYGM | Sarah Leigh Tag for-review was removed from gene: PYGM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Glycogen storage disease v1.7 | PYGM | Sarah Leigh edited their review of gene: PYGM: Added comment: After NHSÂ Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Glycogen storage disease v1.4 | PYGM |
Sarah Leigh Tag watchlist tag was added to gene: PYGM. Tag for-review tag was added to gene: PYGM. |
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| Glycogen storage disease v1.4 | PYGM | Sarah Leigh commented on gene: PYGM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Glycogen storage disease v1.4 | PYGM | Sarah Leigh Publications for gene: PYGM were set to 20301518 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Glycogen storage disease v1.3 | PYGM | Zornitza Stark reviewed gene: PYGM: Rating: GREEN; Mode of pathogenicity: None; Publications: 32386344; Phenotypes: McArdle disease, MIM# 232600, Glycogen storage disease, autosomal dominant; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Glycogen storage disease v0.3 | PYGM | Emma Ashton reviewed gene: PYGM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Glycogen storage disease v0.3 | PYGM | Carol Hardy reviewed gene: PYGM: Rating: GREEN; Mode of pathogenicity: ; Publications: 20301518; Phenotypes: Glycogen storage disease V 232600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Glycogen storage disease v0.2 | PYGM |
Ivone Leong gene: PYGM was added gene: PYGM was added to Glycogen storage disease. Sources: Expert Review Green,London North GLH,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PYGM were set to 20301518 Phenotypes for gene: PYGM were set to Glycogen storage disease V 232600 |
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