ARX

aristaless related homeobox
OMIM: 300382, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
16 panels
Red ARX in Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.16
Latest signed off version: v3.0 (22 Mar 2023)

review Not set
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review Red
  • UKGTN
Phenotypes
  • Cerebral Malformation Disorders
Amber ARX in Hydrocephalus


Version 4.6
Latest signed off version: v4.0 (22 Mar 2023)

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • NHS GMS
  • Expert Review Amber
  • Literature
Phenotypes
  • Hydranencephaly with abnormal genitalia, OMIM:300215
Tags
  • watchlist
Green ARX in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.147

review Not set
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Developmental and epileptic encephalopathy 1, OMIM:308350
  • X-linked spasticity-intellectual disability-epilepsy syndromeMONDO:0017856
  • Partington syndrome, OMIM:309510
  • Partington syndrome, MONDO:0010654
Red ARX in White matter disorders and cerebral calcification - narrow panel


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Red
    Phenotypes
    • 300215
    • Cerebral Malformation Disorders
    • Lissencephaly, X-linked 2
    Green ARX in Intestinal failure or congenital diarrhoea


    Version 3.3
    Latest signed off version: v3.0 (22 Mar 2023)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    Phenotypes
    • Lissencephaly, X-linked 2, OMIM:300215
    Green ARX in Malformations of cortical development

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.5
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Cerebral malformation
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    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
    Tags
    • nucleotide-repeat-expansion
    Red ARX in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.180

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Cerebral Malformation Disorders
    • Lissencephaly, X-linked 2
    • 300215
    Green ARX in Differences in sex development

    Level 3: Gonadal and sex development disorders
    Level 2: Endocrine disorders
    Version 4.6
    Latest signed off version: v4.5 (1 May 2024)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • UKGTN
    Phenotypes
    • Corpus Callosum, Agenesis Of, With Abnormal Genitalia, Proud syndrome 300004
    • ARX-related Disorders
    • Lissencephaly, X-linked 2 300215
    Red ARX in Adult onset neurodegenerative disorder


    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    review Unknown
    Sources
    • Expert Review Red
    • Yorkshire and North East GLH
    • NHS GMS
    • South West GLH
    Phenotypes
    • Dystonia
    Green ARX in Fetal anomalies


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    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 ARX in DDG2P


    Version 4.5
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    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 ARX in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.14
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • NIHRBR-RD Consortium SPEED_v3.0_20170404
    • Victorian Clinical Genetics Services
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Expert
    • Expert Review Green
    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 ARX in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.26
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Emory Genetics Laboratory
    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)
    Tags
    • nucleotide-repeat-expansion
    Amber ARX in Adult onset dystonia, chorea or related movement disorder


    Version 3.19
    Latest signed off version: v3.12 (31 Jul 2023)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Amber
    • NHS GMS
    • South West GLH
    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 ARX in Childhood onset dystonia, chorea or related movement disorder


    Version 4.4
    Latest signed off version: v4.0 (1 May 2024)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • NHS GMS
    • Expert Review Green
    • South West GLH
    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 ARX in Severe Paediatric Disorders


    Version 1.184

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Epileptic encephalopathy, early infantile, 1, 308350
    • Partington syndrome, 309510
    • Proud syndrome, 300004
    • Lissencephaly, X-linked 2, 300215
    • Hydranencephaly with abnormal genitalia, 300215
    • Mental retardation, X-linked 29 and others, 300419