EXT1

exostosin glycosyltransferase 1
OMIM: 608177
PanelMode of inheritanceDetails
7 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Exostoses, multiple, type 1 133700, Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
HEREDITARY MULTIPLE EXOSTOSES TYPE 1 133700, TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 2 150230
R-numbers: R21, R412
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
HEREDITARY MULTIPLE EXOSTOSES TYPE 1, TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 2
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 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies), Exostoses, multiple, type 1 133700
R-numbers: R390
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Chondrosarcoma 215300
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
trichorhinophalangeal syndrome type 2 -150230, Exostoses, multiple, type 1 133700, Exostoses, multiple, type 13370