SLC25A19

solute carrier family 25 member 19
OMIM: 606521, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Green SLC25A19 in Pyruvate dehydrogenase (PDH) deficiency


Version 1.0

Component of the following Super Panels:

  • GMS Mitochondrial super panel v9.12
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • MICROCEPHALY, AMISH TYPE, 607196
    • THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE), 613710

    Green SLC25A19 in Structural basal ganglia disorders

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.17

    Component of the following Super Panels:

  • Merge for Dystonia - childhood onset v1.27
  • Merge for Adult onset movement disorder v0.19
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Microcephaly, Amish type 607196
    • Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) 613710

    Green SLC25A19 in Dystonia - childhood onset


    Version 1.8

    Component of the following Super Panels:

  • Movement disorders - childhood onset v4.390
  • TEST_Panel_update_Movement disorders - childhood onset v1.2
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) 613710
    • Microcephaly, Amish type 607196

    Green SLC25A19 in Severe microcephaly

    Level 3: DNA repair disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.74

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Amish Lethal Microcephaly
    • Microcephaly, Amish type, 607196
    • Amish Lethal Microcephaly, 216535

    Green SLC25A19 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.411

    Component of the following Super Panels:

  • Merge for inborn errors of metabolism v2.99
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Microcephaly, Amish type (Disorders of thiamine metabolism)
    • Microcephaly, Amish type, 607196
    • Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710

    Green SLC25A19 in Inborn errors of metabolism


    Version 1.396

    Component of the following Super Panels:

  • Merge for Molecular autopsy v5.147
  • Paediatric disorders v4.357
  • White matter disorders - childhood onset v4.205
  • Hypotonic infant with a likely central cause v3.1025
  • Hereditary ataxia and cerebellar anomalies - childhood onset v3.409
  • Merge for Cardiomyopathies - including childhood onset v3.169
  • Epilepsy - early onset or syndromic v2.883
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Microcephaly, Amish type, 607196
    • Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710
    • Microcephaly, Amish type (Disorders of thiamine metabolism)

    Green SLC25A19 in Possible mitochondrial disorder - nuclear genes


    Version 1.12

    Component of the following Super Panels:

  • GMS Mitochondrial super panel v9.12
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • MICROCEPHALY, AMISH TYPE, 607196
    • THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE), 613710

    Amber SLC25A19 in Fetal anomalies


    Version 0.346

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • AMISH LETHAL MICROCEPHALY

    Amber SLC25A19 in DDG2P


    Version 1.148

    Component of the following Super Panels:

  • Paediatric disorders v4.357
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • AMISH LETHAL MICROCEPHALY 216535

    Red SLC25A19 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.337

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London North GLH
    Phenotypes
    • Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710
    • Acute encephalopathic episodes and paralysis following febrile illness with almost complete recovery. Absent sensory-motor action potential during illness. Bilateral striatal necrosis on MRI. Additional chronic progressive axonal neuropathy

    Red SLC25A19 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.407

    Component of the following Super Panels:

  • Epilepsy - early onset or syndromic v2.883
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    • Wessex and West Midlands GLH
    Phenotypes
    • Microcephaly, Amish type, 607196
    • Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710

    Red SLC25A19 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.1098

    Component of the following Super Panels:

  • Paediatric disorders v4.357
  • White matter disorders - childhood onset v4.205
  • Hypotonic infant with a likely central cause v3.1025
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Microcephaly, Amish type, 607196

    Green SLC25A19 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.2

    Component of the following Super Panels:

  • Merge for Molecular autopsy v5.147
  • White matter disorders - childhood onset v4.205
  • Merge for Cardiomyopathies - including childhood onset v3.169
  • Merge for inborn errors of metabolism v2.99
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Microcephaly, Amish type, 607196
    • Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710

    Red SLC25A19 in Adult onset movement disorder


    Version 0.130

    Component of the following Super Panels:

  • TEST - Superpanel v2.5
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH
    Phenotypes
    • Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) 613710
    • Microcephaly, Amish type 607196