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Likely inborn error of metabolism - targeted testing not possible v2.230 | ISCA-37440-Loss | Eleanor Williams commented on Region: ISCA-37440-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.230 | ISCA-37440-Loss | Arina Puzriakova Required Overlap Percentage for ISCA-37440-Loss was changed from 80 to 60. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.24 | ISCA-37440-Loss | Ellen McDonagh Marked Region: ISCA-37440-Loss as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.24 | ISCA-37440-Loss | Ellen McDonagh Added comment: Comment when marking as ready: Coordinates and information checked against the original source panels. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.24 | ISCA-37440-Loss | Ellen McDonagh Region: isca-37440-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.24 | ISCA-37440-Loss | Ellen McDonagh commented on Region: ISCA-37440-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.24 | ISCA-37440-Loss | Louise Daugherty Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.24 | ISCA-37440-Loss | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.24 | ISCA-37440-Loss | Louise Daugherty commented on Region: ISCA-37440-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | ISCA-37440-Loss |
Ellen McDonagh Region: ISCA-37440-Loss was added Region: ISCA-37440-Loss was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for Region: ISCA-37440-Loss was set to BIALLELIC, autosomal or pseudoautosomal Publications for Region: ISCA-37440-Loss were set to 18234729; 11524703; 16385448 Phenotypes for Region: ISCA-37440-Loss were set to hyperphagia; lactic acidemia; mild/moderate mental retardation; Hypotonia-cystinuria syndrome (HCS); 606407; failure to thrive; nephrolithiasis; rapid weight gain in late childhood; minor facial dysmorphism; growth hormone deficiency; facial dysmorphism; respiratory chain complex IV deficiency; cystinuria; neonatal seizures; 2p21 deletion syndrome; hypotonia; severe somatic and developmental delay |