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| Likely inborn error of metabolism - targeted testing not possible v2.263 | DHTKD1 | Arina Puzriakova commented on gene: DHTKD1: The recent MOI update on this panel was done following an audit of genes with different MOIs on component panels of the same superpanel. These were reviewed by the curation team accounting for respective panel scope and final MOIs were validated by the Genomics England clinical team. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.225 | DHTKD1 | Arina Puzriakova commented on gene: DHTKD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.224 | DHTKD1 | Arina Puzriakova Mode of inheritance for gene DHTKD1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.79 | DHTKD1 | Eleanor Williams Source: Expert Review Red was removed from gene: DHTKD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.47 | DHTKD1 |
Ivone Leong Source NHS GMS was added to DHTKD1. Source London North GLH was added to DHTKD1. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | DHTKD1 | Ellen McDonagh Added phenotypes 2-aminoadipic and 2-oxoadipic aciduria, 204750 for gene: DHTKD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | DHTKD1 |
Ellen McDonagh gene: DHTKD1 was added gene: DHTKD1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DHTKD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: DHTKD1 were set to 27604308 Phenotypes for gene: DHTKD1 were set to 2-Oxoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism); 2-aminoadipic and 2-oxoadipic aciduria, 204750; 2-Aminoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism) |
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