Activity
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5 actions
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| Likely inborn error of metabolism v2.223 | GMPPA | Sarah Leigh Tag for-review was removed from gene: GMPPA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v2.223 | GMPPA | Sarah Leigh commented on gene: GMPPA: The rating of this gene has been updated following NHS Genomic Medicine Service approval | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v2.222 | GMPPA |
Sarah Leigh Source Expert Review Green was added to GMPPA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v2.166 | GMPPA | Arina Puzriakova Entity copied from Congenital disorders of glycosylation v2.74 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v2.166 | GMPPA |
Arina Puzriakova gene: GMPPA was added gene: GMPPA was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list for-review tags were added to gene: GMPPA. Mode of inheritance for gene: GMPPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GMPPA were set to 24035193; 28574218 Phenotypes for gene: GMPPA were set to Alacrima, achalasia, and mental retardation syndrome (MIM# 615510) |
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