Genomics England
GMS Panels
Panels
Genes and Entities

XYLT1

xylosyltransferase 1
OMIM: 608124
PanelMode of inheritanceDetails
7 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Desbuquois dysplasia 2, OMIM:615777, Desbuquois dysplasia 2, MONDO:0014343
Green
in Congenital disorders of glycosylation
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Desbuquois dysplasia 2 615777
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
XYLT1-related Desbuquois dysplasia, OMIM:615777
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Desbuquois dysplasia 2, OMIM:615777, Desbuquois dysplasia 2, MONDO:0014343
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Desbuquois dysplasia 2, OMIM:615777, Desbuquois dysplasia 2, MONDO:0014343
Green
in Likely inborn error of metabolism
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 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Desbuquois dysplasia 2, OMIM:615777, Desbuquois dysplasia 2, MONDO:0014343
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Desbuquois dysplasia 2, OMIM:615777, Desbuquois dysplasia 2, MONDO:0014343