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Likely inborn error of metabolism - targeted testing not possible v2.321 | ST3GAL3 | Sarah Leigh Publications for gene: ST3GAL3 were set to 27604308; 21907012; 23252400; 31584066 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.320 | ST3GAL3 | Sarah Leigh Phenotypes for gene: ST3GAL3 were changed from Intellectual disability; Epileptic encephalopathy, early infantile, 15 615006; ST3GAL3-CDG (Disorders of protein N-glycosylation) to Developmental and epileptic encephalopathy 15, OMIM:615006; developmental and epileptic encephalopathy, 15, MONDO:0014003; Intellectual developmental disorder, autosomal recessive 12, OMIM:611090; intellectual disability, autosomal recessive 12, MONDO:0012612 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.364 | ST3GAL3 | Catherine Snow Publications for gene: ST3GAL3 were set to 27604308; 21907012; 23252400; 31584066 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.364 | ST3GAL3 | Catherine Snow Publications for gene: ST3GAL3 were set to 27604308; 21907012; 23252400; 31584066 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.363 | ST3GAL3 | Catherine Snow Publications for gene: ST3GAL3 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.363 | ST3GAL3 | Catherine Snow Classified gene: ST3GAL3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.363 | ST3GAL3 | Catherine Snow Gene: st3gal3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.362 | ST3GAL3 | Catherine Snow reviewed gene: ST3GAL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21907012, 23252400, 31584066; Phenotypes: Epileptic encephalopathy, early infantile, 15, 615006: Mental retardation, autosomal recessive 12, 611090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.47 | ST3GAL3 |
Ivone Leong Source NHS GMS was added to ST3GAL3. Source London North GLH was added to ST3GAL3. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ST3GAL3 |
Ellen McDonagh Added phenotypes Intellectual disability; ST3GAL3-CDG (Disorders of protein N-glycosylation) for gene: ST3GAL3 Publications for gene ST3GAL3 were changed from 21907012; 23252400 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ST3GAL3 |
Ellen McDonagh gene: ST3GAL3 was added gene: ST3GAL3 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: ST3GAL3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ST3GAL3 were set to 21907012; 23252400 Phenotypes for gene: ST3GAL3 were set to Epileptic encephalopathy, early infantile, 15 615006; ST3GAL3-CDG (Disorders of protein N-glycosylation) |