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| Likely inborn error of metabolism - targeted testing not possible v2.223 | PIGS | Sarah Leigh Tag for-review was removed from gene: PIGS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.223 | PIGS | Sarah Leigh commented on gene: PIGS: The rating of this gene has been updated following NHS Genomic Medicine Service approval | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.222 | PIGS |
Sarah Leigh Source Expert Review Green was added to PIGS. 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 v2.167 | PIGS | Arina Puzriakova Entity copied from Congenital disorders of glycosylation v2.74 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.167 | PIGS |
Arina Puzriakova gene: PIGS was added gene: PIGS was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list for-review tags were added to gene: PIGS. Mode of inheritance for gene: PIGS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGS were set to 30269814 Phenotypes for gene: PIGS were set to Glycosylphosphatidylinositol biosynthesis defect 18 618143 |
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