EXT1

exostosin glycosyltransferase 1
OMIM: 608177
PanelMode of inheritanceDetails
6 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
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 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
HEREDITARY MULTIPLE EXOSTOSES TYPE 1 133700, TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 2 150230
R-numbers: R21
Signed-off version 1.92
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:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies), Exostoses, multiple, type 1 133700
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 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
trichorhinophalangeal syndrome type 2 -150230, Exostoses, multiple, type 1 133700, Exostoses, multiple, type 13370