ARX

aristaless related homeobox
OMIM: 300382, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Red ARX in Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.58
Latest signed off version: v2.2 (2 Mar 2020)

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

Amber ARX in Hydrocephalus


Version 2.118
Latest signed off version: v2.3 (2 Mar 2020)

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

Red ARX in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.89

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia

Red ARX in White matter disorders and cerebral calcification - narrow panel


Version 1.206
Latest signed off version: v1.12 (2 Mar 2020)

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • 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 Malformations of cortical development

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.92
    Latest signed off version: v2.2 (25 Feb 2020)

    Component of the following Super Panels:

  • Cerebral malformations
  • 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 1.141

    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 Disorders of sex development

    Level 3: Gonadal and sex development disorders
    Level 2: Endocrine disorders
    Version 2.49
    Latest signed off version: v2.2 (3 Mar 2020)

    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 Neurodegenerative disorders - adult onset


    Version 2.200
    Latest signed off version: v2.178 (5 Aug 2021)

    review Unknown
    Sources
    • Expert Review Red
    • Yorkshire and North East GLH
    • NHS GMS
    • South West GLH
    Phenotypes
    • Dystonia

    Green ARX in Fetal anomalies


    Version 1.728
    Latest signed off version: v1.92 (21 Aug 2020)

    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 2.49
    Latest signed off version: v2.2 (13 Feb 2020)

    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 Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.448
    Latest signed off version: v2.2 (13 Feb 2020)

    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 3.1367
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 movement disorder


    Version 1.123
    Latest signed off version: v1.121 (5 Aug 2021)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    • NHS GMS
    • South West GLH
    Phenotypes
    • Partington Syndrome, OMIM:309510

    Amber ARX in Childhood onset dystonia or chorea or related movement disorder


    Version 1.157
    Latest signed off version: v1.137 (5 Aug 2021)

    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
    • South West GLH
    Phenotypes
    • Partington Syndrome, 300382

    Green ARX in Severe Paediatric Disorders


    Version 1.84

    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