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| Likely inborn error of metabolism - targeted testing not possible v2.146 | DPM1 | Arina Puzriakova Phenotypes for gene: DPM1 were changed from Congenital disorder of glycosylation, type Ie 608799; GDP-Man:Dol-P mannosyltransferase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) to Congenital disorder of glycosylation, type Ie, OMIM:608799; GDP-Man:Dol-P mannosyltransferase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.47 | DPM1 |
Ivone Leong Source NHS GMS was added to DPM1. Source London North GLH was added to DPM1. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | DPM1 |
Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type Ie 608799; GDP-Man:Dol-P mannosyltransferase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) for gene: DPM1 Publications for gene DPM1 were changed from 23856421 to 27604308 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | DPM1 |
Ellen McDonagh gene: DPM1 was added gene: DPM1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DPM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPM1 were set to 23856421 Phenotypes for gene: DPM1 were set to Congenital disorder of glycosylation, type Ie 608799; GDP-Man:Dol-P mannosyltransferase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) |
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