SLC25A19

solute carrier family 25 member 19
OMIM: 606521, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
16 panels

Green SLC25A19 in Pyruvate dehydrogenase (PDH) deficiency


Version 1.3
Signed off v.1.2 on 17 Feb 2020

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

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 Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.6
Signed off v.2.2 on 2 Mar 2020

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 1.414

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 2.10
Signed off v.2.3 on 17 Feb 2020

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 1.15
    Signed off v.1.13 on 17 Feb 2020

    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 1.73
    Signed off v.1.2 on 17 Feb 2020

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

    Amber SLC25A19 in DDG2P


    Version 2.8
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

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

    Green SLC25A19 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.368

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • 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 2.89
    Signed off v.2.2 on 13 Feb 2020

    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 3.82
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 2.6
    Signed off v.2.4 on 17 Feb 2020

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • 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 1.5
    Signed off v.1.2 on 2 Mar 2020

    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

    Amber SLC25A19 in Hereditary neuropathy NOT PMP22 copy number


    Version 1.4
    Signed off v.1.2 on 27 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • London North GLH
    • NHS GMS
    • NHS GMS
    • London North GLH
    Phenotypes
    • 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
    • Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710

    Red SLC25A19 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.4
    Signed off v.1.2 on 25 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Red
    • London North GLH
    Phenotypes
    • Microcephaly, Amish type 607196
    • Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) 613710

    Green SLC25A19 in Severe Paediatric Disorders


    Version 1.6

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Microcephaly, Amish type, 607196
    • Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710