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| Likely inborn error of metabolism - targeted testing not possible v1.118 | DPM3 | Sarah Leigh Classified gene: DPM3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.118 | DPM3 |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 2 variants reported as homozygotes in two unrelated cases, together with segregation and supportive functional studies. |
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| Likely inborn error of metabolism - targeted testing not possible v1.118 | DPM3 | Sarah Leigh Gene: dpm3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.117 | DPM3 | Sarah Leigh Publications for gene: DPM3 were set to 19576565; 28803818 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.117 | DPM3 | Sarah Leigh Publications for gene: DPM3 were set to 19576565 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.116 | DPM3 | Sarah Leigh Phenotypes for gene: DPM3 were changed from Congenital disorder of glycosylation, type Io 612937; Congenital disorder of glycosylation, type Io 612937; DMP3-CDG (other congenital disorders of glycosylation) to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 612937 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.47 | DPM3 |
Ivone Leong Source NHS GMS was added to DPM3. Source London North GLH was added to DPM3. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | DPM3 |
Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type Io 612937 for gene: DPM3 Publications for gene DPM3 were changed from 27604308 to 19576565 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | DPM3 |
Ellen McDonagh gene: DPM3 was added gene: DPM3 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: DPM3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPM3 were set to 27604308 Phenotypes for gene: DPM3 were set to Congenital disorder of glycosylation, type Io 612937; DMP3-CDG (other congenital disorders of glycosylation) |
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