SLC16A2

solute carrier family 16 member 2
OMIM: 300095, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
16 panels

Green SLC16A2 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.389

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

Green SLC16A2 in Mendeliome


Version 1.2374

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Allan-Herndon-Dudley syndrome, MIM# 300523

Green SLC16A2 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.119

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Allan-Herndon-Dudley syndrome, MIM# 300523

    Green SLC16A2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

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

    Green SLC16A2 in Paroxysmal Dyskinesia


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.141

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Tremors_Superpanel
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Allan-Herndon-Dudley syndrome, MIM# 300523
    • paroxysmal dyskinesia (passive movement trigger)
    • neurodevelopmental disability, hypotonia

    Green SLC16A2 in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.272

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Allan-Herndon-Dudley syndrome, MIM# 300523

    Green SLC16A2 in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.318

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Allan-Herndon-Dudley syndrome, MIM# 300523
    • Hypomyelination

    Green SLC16A2 in Hereditary Spastic Paraplegia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.87

    Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Allan-Herndon-Dudley syndrome, 300523, XL

    Green SLC16A2 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
    • Allan-Herndon-Dudley syndrome

    Green SLC16A2 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
    • Allan-Herndon-Dudley syndrome

    Green SLC16A2 in Hyperthyroidism


    Level 2: Endocrine disorders
    Version 0.23

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

    Green SLC16A2 in Congenital hypothyroidism

    Level 3: Thyroid disorders
    Level 2: Endocrine disorders
    Version 0.48

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

    Amber SLC16A2 in Fetal anomalies


    Version 1.314

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Allan-Herndon-Dudley syndrome, MIM# 300523

    Green SLC16A2 in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Allan-Herndon-Dudley syndrome, MIM #300523

    Amber SLC16A2 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    • BabySeq Category A gene
    Phenotypes
    • Allan-Herndon-Dudley syndrome, MIM# 300523
    Tags
    • clinical trial

    Green SLC16A2 in Prepair 500+


    Level 2: Screening
    Version 1.5

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Allan-Herndon-Dudley syndrome