EXT2

exostosin glycosyltransferase 2
OMIM: 608210
PanelMode of inheritanceDetails
9 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
?Seizures, scoliosis, and macrocephaly syndrome 616682, Exostoses, multiple, type 2 133701, Multiple exostoses type II (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
EXOSTOSES, MULTIPLE, TYPE 2 133701
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Seizures, scoliosis, and macrocephaly syndrome, OMIM:616682, seizures-scoliosis-macrocephaly syndrome, MONDO:0014731
R-numbers: R21, R412
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
EXOSTOSES, MULTIPLE, TYPE 2
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Seizures, scoliosis, and macrocephaly syndrome, 616682, autosomal recessive EXT2-related syndrome
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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies), Exostoses, multiple, type 2 133701, ?Seizures, scoliosis, and macrocephaly syndrome 616682
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
Exostoses, multiple, type 2
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Exostoses, multiple, type 2, OMIM:133701