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| Likely inborn error of metabolism - targeted testing not possible v5.3 | GRN | Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: GRN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v5.3 | GRN | Sarah Leigh edited their review of gene: GRN: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v5.2 | GRN |
Achchuthan Shanmugasundram Source Expert Review Green was added to GRN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism - targeted testing not possible v4.111 | GRN |
Sarah Leigh Tag Q4_22_promote_green was removed from gene: GRN. Tag Q4_23_promote_green tag was added to gene: GRN. |
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| Likely inborn error of metabolism - targeted testing not possible v4.111 | GRN | Sarah Leigh reviewed gene: GRN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v4.111 | GRN | Sarah Leigh Entity copied from Neuronal ceroid lipofuscinosis v2.6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v4.111 | GRN |
Sarah Leigh gene: GRN was added gene: GRN was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Expert Review Amber,NHS GMS,London North GLH Q4_22_promote_green tags were added to gene: GRN. Mode of inheritance for gene: GRN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRN were set to 22608501; 27021778; 28000352; 28404863; 30922528; 31855245 Phenotypes for gene: GRN were set to Ceroid lipofuscinosis, neuronal, 11 OMIM:614706; neuronal ceroid lipofuscinosis 11 MONDO:0013866 |
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