SLC16A2

solute carrier family 16 member 2
OMIM: 300095, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels
Green SLC16A2 in Hyperthyroidism

Level 3: Thyroid disorders
Level 2: Endocrine disorders
Version 3.4
Latest signed off version: v3.0 (30 Nov 2022)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Other
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Literature
Phenotypes
  • Allan-Herndon-Dudley syndrome, OMIM:300523
Tags
  • treatable
Green SLC16A2 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 Green
    Phenotypes
    • Allan-Herndon-Dudley syndrome, OMIM:300523
    • General Leukodystrophy & Mitochondrial Leukoencephalopathy
    • Hypomyelinating Leukodystrophy & Pelizaeus-Merzbacher Disease
    • Monocarboxylate transporter 8 deficiency (MCT8)
    Green SLC16A2 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 Green
    • Expert list
    Phenotypes
    • Allan-Herndon-Dudley syndrome, OMIM:300523
    • General Leukodystrophy & Mitochondrial Leukoencephalopathy
    • Hypomyelinating Leukodystrophy & Pelizaeus-Merzbacher Disease
    • Monocarboxylate transporter 8 deficiency (MCT8)
    Green SLC16A2 in Hereditary spastic paraplegia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.311

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Allan-Herndon-Dudley syndrome, OMIM:300523
    Green SLC16A2 in Childhood onset hereditary spastic paraplegia


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

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • Expert list
    Phenotypes
    • Allan-Herndon-Dudley syndrome, OMIM:300523
    Amber SLC16A2 in Adult onset hereditary spastic paraplegia


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

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Allan-Herndon-Dudley syndrome, OMIM:300523
    Red SLC16A2 in Adult onset neurodegenerative disorder


    Version 5.7
    Latest signed off version: v5.0 (1 May 2024)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Allan-Herndon-Dudley syndrome, OMIM:300523
    Green SLC16A2 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
    • MCT8 (SLC16A2)-SPECIFIC THYROID HORMONE CELL TRANSPORTER DEFICIENCY
    Green SLC16A2 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
    • MCT8 (SLC16A2)-SPECIFIC THYROID HORMONE CELL TRANSPORTER DEFICIENCY 300523
    Green SLC16A2 in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.16
    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, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    • UKGTN
    Phenotypes
    • Allan-Herndon-Dudley syndrome, OMIM:300523
    Green SLC16A2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.38
    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
    • Emory Genetics Laboratory
    Phenotypes
    • Allan-Herndon-Dudley syndrome, OMIM:300523
    Green SLC16A2 in Congenital hypothyroidism

    Level 3: Thyroid disorders
    Level 2: Endocrine disorders
    Version 2.18
    Latest signed off version: v2.2 (25 Feb 2020)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    Phenotypes
    • Allan-Herndon-Dudley syndrome, OMIM:300523
    Tags
    • treatable
    Green SLC16A2 in Childhood onset dystonia, chorea or related movement disorder


    Version 4.6
    Latest signed off version: v4.0 (1 May 2024)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Allan-Herndon-Dudley syndrome, OMIM:300523
    Green SLC16A2 in Severe Paediatric Disorders


    Version 1.184

    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
    • Allan-Herndon-Dudley syndrome, 300523