SLC9A6

solute carrier family 9 member A6
OMIM: 300231, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green SLC9A6 in Ataxia and cerebellar anomalies - narrow panel


Version 2.239
Latest signed off version: v2.23 (8 Oct 2020)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - 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 Green
    Phenotypes
    • Mental retardation, X-linked syndromic, Christianson type, 300243

    Green SLC9A6 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.244

    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
    • UKGTN
    Phenotypes
    • Mental retardation, X-linked syndromic, Christianson type, 300243

    Green SLC9A6 in Severe microcephaly

    Level 3: DNA repair disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.264
    Latest signed off version: v2.2 (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 Green
    • Other
    • UKGTN
    • Emory Genetics Laboratory
    Phenotypes
    • Angelman-like Syndrome
    • microcephaly, seizures, ataxia, and absent speech
    • Mental retardation, X-linked syndromic, Christianson type, 300243
    • Microcephaly

    Red SLC9A6 in Neurodegenerative disorders - adult onset


    Version 2.200
    Latest signed off version: v2.178 (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 Red
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Mental retardation, X-linked syndromic, Christianson type, 300243

    Red SLC9A6 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
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • MENTAL RETARDATION SYNDROMIC X-LINKED CHRISTIANSON TYPE

    Green SLC9A6 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 SYNDROMIC X-LINKED CHRISTIANSON TYPE 300243

    Green SLC9A6 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, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • UKGTN
    Phenotypes
    • Mental retardation, X-linked syndromic, Christianson type, 300243

    Green SLC9A6 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, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • UKGTN
    Phenotypes
    • Mental retardation, X-linked syndromic, Christianson type, 300243
    • MENTAL RETARDATION SYNDROMIC X-LINKED CHRISTIANSON TYPE (MRXSC)

    Green SLC9A6 in Hereditary ataxia - adult onset


    Version 2.88
    Latest signed off version: v2.13 (6 Oct 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
    • Hereditary ataxia v1.148
    Phenotypes
    • Mental retardation, X-linked syndromic, Christianson type, 300243

    Red SLC9A6 in Childhood onset dystonia or chorea or related movement disorder


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

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green SLC9A6 in Severe Paediatric Disorders


    Version 1.84

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mental retardation, X-linked syndromic, Christianson type, 300243