Genomics England

ST3GAL3

ST3 beta-galactoside alpha-2,3-sialyltransferase 3

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Congenital disorders of glycosylation Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes 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
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes 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
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 5.10	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Developmental and epileptic encephalopathy 15, OMIM:615006, developmental and epileptic encephalopathy, 15, MONDO:0014003
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes 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
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 5.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes 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