Genomics England
GMS Panels
Panels
Genes and Entities

ARX

aristaless related homeobox
OMIM: 300382
PanelMode of inheritanceDetails
8 panels
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 5.4
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Developmental and epileptic encephalopathy 1, OMIM:308350, X-linked spasticity-intellectual disability-epilepsy syndromeMONDO:0017856, Partington syndrome, OMIM:309510, Partington syndrome, MONDO:0010654
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
MENTAL RETARDATION X-LINKED ARX-RELATED 300419, AGENESIS OF THE CORPUS CALLOSUM WITH ABNORMAL GENITALIA 300004, LISSENCEPHALY X-LINKED TYPE 2 300215, EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 1 308350, PARTINGTON SYNDROME 309510
Green
in Differences in sex development
R-numbers: R146
Signed-off version 4.5
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Corpus Callosum, Agenesis Of, With Abnormal Genitalia, Proud syndrome 300004, ARX-related Disorders, Lissencephaly, X-linked 2 300215
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 6.9
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Epileptic encephalopathy, early infantile, 1 308350, Hydranencephaly with abnormal genitalia 300215, Lissencephaly, X-linked 2 300215, Mental retardation, X-linked 29 and others 300419, Partington syndrome 309510, Proud syndrome 300004
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.195
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
PARTINGTON SYNDROME, MENTAL RETARDATION X-LINKED ARX-RELATED, LISSENCEPHALY X-LINKED TYPE 2, AGENESIS OF THE CORPUS CALLOSUM WITH ABNORMAL GENITALIA, EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 1
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.51
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Epileptic encephalopathy, early infantile, 1, 308350Lissencephaly, X-linked 2, 300215Mental retardation, X-linked 29 and others, 300419Proud syndrome, 300004Partington syndrome, 309510Hydranencephaly with abnormal genitalia, 300215, MENTAL RETARDATION X-LINKED ARX-RELATED (MRXARX)
Green
in Intestinal failure or congenital diarrhoea
R-numbers: R331
Signed-off version 3.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Lissencephaly, X-linked 2, OMIM:300215
Green
in Malformations of cortical development
Component of the following Super Panels:
  • - Cerebral malformation
Signed-off version 6.3
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Lissencephaly, X-Linked, 2 300215, Epileptic encephalopathy, early infantile, 1 308350, Hydranencephaly with abnormal genitalia 300215, Mental retardation, X-linked 29 and others 300419, Partington syndrome 309510, Proud syndrome 300004