STT3A

STT3A, catalytic subunit of the oligosaccharyltransferase complex
OMIM: 601134
PanelMode of inheritanceDetails
5 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.3
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 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW 615596
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
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
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
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
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Congenital disorder of glycosylation, type Iw, autosomal dominant, OMIM:619714