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| Likely inborn error of metabolism - targeted testing not possible v2.190 | DHDDS | Arina Puzriakova Phenotypes for gene: DHDDS were changed from Retinitis pigmentosa 59, OMIM:613861; ?Congenital disorder of glycosylation, type 1bb, OMIM:613861; Posterior segment abnormalities to Retinitis pigmentosa 59, OMIM:613861; ?Congenital disorder of glycosylation, type 1bb, OMIM:613861 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.189 | DHDDS | Arina Puzriakova Phenotypes for gene: DHDDS were changed from Retinitis pigmentosa 59 613861; ?Congenital disorder of glycosylation, type 1bb 613861 to Retinitis pigmentosa 59, OMIM:613861; ?Congenital disorder of glycosylation, type 1bb, OMIM:613861; Posterior segment abnormalities | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.115 | DHDDS | Sarah Leigh Classified gene: DHDDS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.115 | DHDDS |
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 for Retinitis pigmentosa 59 613861. One variant was reported in at least 15 families with retinitis pigmentosa, but only one compound individual with glycosylation defects was identifed so far (PMID 27343064). |
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| Likely inborn error of metabolism - targeted testing not possible v1.115 | DHDDS | Sarah Leigh Gene: dhdds has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.114 | DHDDS | Sarah Leigh Added comment: Comment on phenotypes: Posterior segment abnormalities;Retinitis pigmentosa (other congenital disorders of glycosylation) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.114 | DHDDS | Sarah Leigh Phenotypes for gene: DHDDS were changed from ?Congenital disorder of glycosylation, type 1bb 613861; Developmental delay and seizures with or without movement abnormalities 617836; Retinitis pigmentosa 59 613861 to Retinitis pigmentosa 59 613861; ?Congenital disorder of glycosylation, type 1bb 613861 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.110 | DHDDS | Sarah Leigh Phenotypes for gene: DHDDS were changed from Retinitis pigmentosa 59 613861; Posterior segment abnormalities; Retinitis pigmentosa (other congenital disorders of glycosylation) to ?Congenital disorder of glycosylation, type 1bb 613861; Developmental delay and seizures with or without movement abnormalities 617836; Retinitis pigmentosa 59 613861 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.47 | DHDDS |
Ivone Leong Source NHS GMS was added to DHDDS. Source London North GLH was added to DHDDS. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | DHDDS |
Ellen McDonagh Added phenotypes Retinitis pigmentosa 59 613861 for gene: DHDDS Publications for gene DHDDS were changed from 27604308 to 21295282; 21295283; 27343064 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | DHDDS |
Ellen McDonagh gene: DHDDS was added gene: DHDDS was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: DHDDS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHDDS were set to 27604308 Phenotypes for gene: DHDDS were set to Posterior segment abnormalities; Retinitis pigmentosa (other congenital disorders of glycosylation) |
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