Activity
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12 actions
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| Cytopenia - NOT Fanconi anaemia v4.30 | FASLG | Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: FASLG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v4.30 | FASLG | Achchuthan Shanmugasundram commented on gene: FASLG: The rating of this gene has been updated to green and the mode of inheritance updated to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v4.29 | FASLG |
Achchuthan Shanmugasundram Source Expert Review Green was added to FASLG. Source NHS GMS was added to FASLG. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Cytopenia - NOT Fanconi anaemia v4.9 | FASLG | Achchuthan Shanmugasundram Classified gene: FASLG as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v4.9 | FASLG | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of both monoallelic and biallelic FASLG variants with ALPS, which has cytopenia as presenting phenotype. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v4.9 | FASLG | Achchuthan Shanmugasundram Gene: faslg has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v4.8 | FASLG | Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: FASLG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v4.8 | FASLG | Achchuthan Shanmugasundram Phenotypes for gene: FASLG were changed from ALPS to Autoimmune lymphoproliferative syndrome, type IB, OMIM:601859 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v4.7 | FASLG | Achchuthan Shanmugasundram Publications for gene: FASLG were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v4.6 | FASLG | Achchuthan Shanmugasundram Mode of inheritance for gene: FASLG was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v4.5 | FASLG | Achchuthan Shanmugasundram reviewed gene: FASLG: Rating: GREEN; Mode of pathogenicity: None; Publications: 8787672, 16627752, 17605793, 25451160, 26334989; Phenotypes: Autoimmune lymphoproliferative syndrome, type IB, OMIM:601859; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v3.34 | FASLG |
Dmitrijs Rots gene: FASLG was added gene: FASLG was added to Cytopenia - NOT Fanconi anaemia. Sources: Other Mode of inheritance for gene: FASLG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FASLG were set to ALPS Penetrance for gene: FASLG were set to Incomplete Review for gene: FASLG was set to GREEN Added comment: FASLG pathogenic variants (germline or somatic) causes ALPS, which has a complex phenotype including different cytopenias (mostly autoimmune). Sources: Other |
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