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 2.7
Latest signed off version: v2.2 (19 Feb 2020)

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
  • Monocarboxylate transporter 8 (MCT8) defect
  • Allan-Herndon-Dudley syndrome
  • Allan_Herndon_Dudley Syndrome
  • AHDS
  • 300523
  • Allan-Herndon-Dudley syndrome, 300523
  • Allan-Herndon-Dudley Syndrome
  • ALLAN-HERNDON-DUDLEY SYNDROME
  • ALLAN-HERNDON SYNDROME
  • MONOCARBOXYLATE TRANSPORTER 8 DEFICIENCY
  • TRIIODOTHYRONINE RESISTANCE
  • T3 RESISTANCE
  • MENTAL RETARDATION, X-LINKED, WITH HYPOTONIA
  • MENTAL RETARDATION AND MUSCULAR ATROPHY
  • mental retardation, X-linked, with hypotonia
  • MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency
  • monocarboxylate transporter 8 (MCT8) deficiency
Tags
  • treatable

Green SLC16A2 in White matter disorders and cerebral calcification - narrow panel


Version 1.176
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 Green
    Phenotypes
    • General Leukodystrophy & Mitochondrial Leukoencephalopathy
    • Hypomyelinating Leukodystrophy & Pelizaeus-Merzbacher Disease
    • Monocarboxylate transporter 8 deficiency (MCT8)
    • Allan-Herndon-Dudley syndrome

    Green SLC16A2 in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.121

    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
    • Hypomyelinating Leukodystrophy & Pelizaeus-Merzbacher Disease
    • Allan-Herndon-Dudley syndrome
    • Monocarboxylate transporter 8 deficiency (MCT8)
    • General Leukodystrophy & Mitochondrial Leukoencephalopathy

    Green SLC16A2 in Hereditary spastic paraplegia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.226

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Expert list

    Green SLC16A2 in Hereditary spastic paraplegia - childhood onset


    Version 2.40
    Latest signed off version: v2.18 (8 Oct 2020)

    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, 300523

    Green SLC16A2 in Hereditary spastic paraplegia - adult onset


    Version 1.23
    Latest signed off version: v1.12 (15 Oct 2020)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Yorkshire and North East GLH
    • Expert Review Green
    • NHS GMS
    • London North GLH
    Phenotypes
    • Allan-Herndon-Dudley syndrome, 300523, XL

    Red SLC16A2 in Neurodegenerative disorders - adult onset


    Version 2.174
    Latest signed off version: v2.31 (8 Oct 2020)

    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

    Green SLC16A2 in Fetal anomalies


    Version 1.674
    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
    • MCT8 (SLC16A2)-SPECIFIC THYROID HORMONE CELL TRANSPORTER DEFICIENCY

    Green SLC16A2 in DDG2P


    Version 2.27
    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
    • MCT8 (SLC16A2)-SPECIFIC THYROID HORMONE CELL TRANSPORTER DEFICIENCY 300523

    Green SLC16A2 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.369
    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
    • Expert Review Green
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    • UKGTN
    Phenotypes
    • Allan-Herndon-Dudley syndrome, 300523
    • AHDS

    Green SLC16A2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1125
    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
    • Emory Genetics Laboratory
    Phenotypes
    • Allan-Herndon-Dudley syndrome, 300523
    • MCT8 (SLC16A2)-SPECIFIC THYROID HORMONE CELL TRANSPORTER DEFICIENCY

    Green SLC16A2 in Congenital hypothyroidism

    Level 3: Thyroid disorders
    Level 2: Endocrine disorders
    Version 2.4
    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
    • MENTAL RETARDATION AND MUSCULAR ATROPHY
    • MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency
    • monocarboxylate transporter 8 (MCT8) deficiency
    • ALLAN-HERNDON SYNDROME
    • Monocarboxylate transporter 8 (MCT8) defect
    • Allan-Herndon-Dudley syndrome
    • AHDS
    • MENTAL RETARDATION, X-LINKED, WITH HYPOTONIA
    • Allan_Herndon_Dudley Syndrome
    • mental retardation, X-linked, with hypotonia
    • MONOCARBOXYLATE TRANSPORTER 8 DEFICIENCY
    • Allan-Herndon-Dudley Syndrome
    • T3 RESISTANCE
    • TRIIODOTHYRONINE RESISTANCE
    • 300523
    • Allan-Herndon-Dudley syndrome, 300523
    • ALLAN-HERNDON-DUDLEY SYNDROME
    Tags
    • treatable

    No list SLC16A2 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.126
    Latest signed off version: v1.58 (6 Oct 2020)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert list
    Phenotypes
    • Allan-Herndon-Dudley syndrome, MIM# 300523

    Green SLC16A2 in Severe Paediatric Disorders


    Version 1.78

    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