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| Severe Paediatric Disorders v0.17 | DHDDS | Louise Daugherty Mode of inheritance for gene DHDDS was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.12 | DHDDS | Louise Daugherty reviewed gene: DHDDS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | DHDDS | Louise Daugherty Publications for gene DHDDS were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | DHDDS | Louise Daugherty Added phenotypes ?Congenital disorder of glycosylation, type 1bb, 613861; Developmental delay and seizures with or without movement abnormalities, 617836; Retinitis pigmentosa 59, 613861 for gene: DHDDS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | DHDDS | Louise Daugherty Added phenotypes ?Congenital disorder of glycosylation, type 1bb, 613861; Developmental delay and seizures with or without movement abnormalities, 617836; Retinitis pigmentosa 59, 613861 for gene: DHDDS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | DHDDS | Louise Daugherty Added phenotypes ?Congenital disorder of glycosylation, type 1bb, 613861; Developmental delay and seizures with or without movement abnormalities, 617836; Retinitis pigmentosa 59, 613861 for gene: DHDDS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | DHDDS | Louise Daugherty Added phenotypes Developmental delay and seizures with or without movement abnormalities, 617836; ?Congenital disorder of glycosylation, type 1bb, 613861; Retinitis pigmentosa 59, 613861 for gene: DHDDS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.7 | DHDDS | Louise Daugherty Source Next Generation Children Project was added to DHDDS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | DHDDS |
Louise Daugherty Source Expert Review Green was added to DHDDS. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Severe Paediatric Disorders v0.4 | DHDDS |
Louise Daugherty gene: DHDDS was added gene: DHDDS was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: DHDDS was set to |
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