Genomics England

STT3A

STT3A, catalytic subunit of the oligosaccharyltransferase complex

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 4.13	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation, type Iw, autosomal dominant, OMIM:619714, Congenital disorder of glycosylation, type Iw, autosomal recessive, OMIM:615596
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.79	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW 615596
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.343	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation, type Iw, autosomal dominant, OMIM:619714, Congenital disorder of glycosylation, type Iw, autosomal recessive, OMIM:615596
Green in Likely inborn error of metabolism - targeted testing not possible 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 4.78	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation, type Iw, autosomal dominant, OMIM:619714, Congenital disorder of glycosylation, type Iw, autosomal recessive, OMIM:615596
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 4.31	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Congenital disorder of glycosylation, type Iw, autosomal dominant, OMIM:619714