STT3A

STT3A, catalytic subunit of the oligosaccharyltransferase complex
OMIM: 601134, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green STT3A in Congenital disorders of glycosylation Level 2: Metabolic Version 7.15 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green UKGTN Other Phenotypes Congenital disorder of glycosylation, type Iw, autosomal dominant, OMIM:619714 Congenital disorder of glycosylation, type Iw, autosomal recessive, OMIM:615596
Green STT3A in Skeletal dysplasia Level 2: Musculoskeletal Version 8.38 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Congenital disorder of glycosylation, type Iw, autosomal dominant, OMIM:619714
Green STT3A in Likely inborn error of metabolism Level 2: Metabolic Version 8.100 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Congenital disorder of glycosylation, type Iw, autosomal dominant, OMIM:619714 Congenital disorder of glycosylation, type Iw, autosomal recessive, OMIM:615596
Green STT3A in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.177 Latest signed off version: v6.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Congenital disorder of glycosylation, type Iw, autosomal recessive, OMIM:615596 Congenital disorder of glycosylation, type Iw, autosomal dominant, OMIM:619714
Green STT3A in DDG2P Version 6.440 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green DD-Gene2Phenotype Phenotypes CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW 615596
Green STT3A in Intellectual disability Level 2: Developmental disorders Version 9.336 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Congenital disorder of glycosylation, type Iw, autosomal dominant, OMIM:619714 Congenital disorder of glycosylation, type Iw, autosomal recessive, OMIM:615596
Red STT3A in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.18 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH