Genomics England
GMS Panels
Panels
Genes and Entities

ARSE

arylsulfatase E (chondrodysplasia punctata 1)
OMIM: 300180
PanelMode of inheritanceDetails
8 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
CHONDRODYSPLASIA PUNCTATA 1, X-LINKED 302950
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
CHONDRODYSPLASIA PUNCTATA 1, X-LINKED
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
CHONDRODYSPLASIA PUNCTATA 1, X-LINKED
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 7.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Chondrodysplasia punctata, X-linked recessive 302950
Green
in Limb disorders
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
CDPXL, Chondrodysplasia punctata, X-linked recessive, 302950, X-linked recessive chondrodysplasia punctata, CHONDRODYSPLASIA PUNCTATA 1, X-LINKED
Green
in Palmoplantar keratodermas
R-numbers: R166
Signed-off version 3.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Chondrodysplasia punctata
Green
in Pigmentary skin disorders
R-numbers: R236
Signed-off version 3.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE, CDPX1, Chondrodysplasia punctata
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 7.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
CDPXL, Chondrodysplasia punctata, X-linked recessive, 302950, CHONDRODYSPLASIA PUNCTATA 1, X-LINKED, X-linked recessive chondrodysplasia punctata