PanelApp (stage)
  1. Genes and Genomic Entities
  2. ARX

ARX

aristaless related homeobox
OMIM: 300382, Gene2Phenotype

21 panels

Panel Reviews Mode of inheritance Details
21 panels

Green ARX in Lissencephaly and Band Heterotopia


Level 2: Neurology and neurodevelopmental disorders
Version 1.19

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel

    		•  review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Brain Malformations Flagship
    Phenotypes
    • Lissencephaly, X-linked 2, MIM# 300215

    Green ARX in Polymicrogyria and Schizencephaly


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.189

    Component of the following Super Panels:

  • Malformations of cortical development_Superpanel

    		•  review Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Brain Malformations Flagship

    Amber ARX in Arthrogryposis


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.411

    Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    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 Autism


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.198

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green ARX in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.356

    		review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Developmental and epileptic encephalopathy 1, MIM# 308350
    • Lissencephaly, X-linked 2, MIM# 300215
    • Proud syndrome, MIM# 300004

    Green ARX in Differences of Sex Development


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.293

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Amber ARX in Hydrocephalus_Ventriculomegaly


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.123

    		review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hydranencephaly with abnormal genitalia, MIM# 300215

    Green ARX in Mendeliome


    Version 1.1891

    		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
    • Victorian Clinical Genetics Services
    Phenotypes
    • Epileptic encephalopathy, early infantile, 1 MIM#308350
    • Hydranencephaly with abnormal genitalia MIM#300215
    • Lissencephaly, X-linked 2 MIM#300215
    • Mental retardation, X-linked 29 and others MIM#300419
    • Partington syndrome MIM#309510
    • Proud syndrome MIM#300004

    Green ARX in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  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
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Epileptic encephalopathy, early infantile, 1 MIM#308350
    • Hydranencephaly with abnormal genitalia MIM#300215
    • Lissencephaly, X-linked 2 MIM#300215
    • Mental retardation, X-linked 29 and others MIM#300419
    • Partington syndrome MIM#309510
    • Proud syndrome MIM#300004

    Green ARX in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.522

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green ARX in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    		review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Lissencephaly, X-linked 2, MIM# 300215

    Green ARX in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.235

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  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
    • Royal Melbourne Hospital
    Phenotypes
    • Partington syndrome, MIM# 309510
    • Dystonia

    Green ARX in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hydranencephaly with abnormal genitalia, 300215 (3)

    Red ARX in Cerebral vascular malformations


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.39

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review Not set
    Sources
    • Genomics England PanelApp
    • Expert Review Red
    Phenotypes
    • Cerebral Malformation Disorders

    Green ARX in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Lissencephaly, X-linked 2

    Green ARX in Fetal anomalies


    Version 1.255

    		review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hydranencephaly with abnormal genitalia, MIM# 300215
    • Lissencephaly, X-linked 2, MIM# 300215

    Green ARX in Prepair 1000+


    Level 2: Screening
    Version 1.9

    		review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hydranencephaly with abnormal genitalia, 300215 (3)

    Red ARX in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    		review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Lissencephaly, X-linked 2, MIM# 300215

    Green ARX in Prepair 500+


    Level 2: Screening
    Version 1.1

    		review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hydranencephaly with abnormal genitalia, 300215 (3)

    Green EIEE1_tract1 STR in Repeat Disorders


    Version 0.167

    		review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Developmental and epileptic encephalopathy 1 MIM#308350
    • Intellectual disability, X-linked 29 and others MIM#300419
    • Partington syndrome MIM#309510
    Tags
    • paediatric-onset

    Green EIEE1_tract2 STR in Repeat Disorders


    Version 0.167

    		review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Developmental and epileptic encephalopathy 1 MIM#308350
    • Intellectual disability, X-linked 29 and others MIM#300419
    • Partington syndrome MIM#309510
    Tags
    • paediatric-onset