SLC17A5

solute carrier family 17 member 5
OMIM: 604322, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels
Red SLC17A5 in Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.21

review Not set
Sources
  • Emory Genetics Laboratory
Green SLC17A5 in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.63

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Other
  • Expert Review Green
Phenotypes
  • Sialic acid storage disorder, infantile, 269920
  • ISSD
  • Hydrops fetalis
  • Infantile sialic acid storage disease
Green SLC17A5 in White matter disorders and cerebral calcification - narrow panel


Version 3.31
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • General Leukodystrophy & Mitochondrial Leukoencephalopathy
    Green SLC17A5 in Ataxia and cerebellar anomalies - narrow panel


    Version 4.56
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Salla disease, OMIM:604369
    • Sialic acid storage disorder, infantile, OMIM:269920
    Green SLC17A5 in Lysosomal storage disorder


    Version 3.3
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • North London GLH
    Phenotypes
    • Salla disease OMIM:604369
    • Salla disease MONDO:0011449
    • Sialic acid storage disorder, infantile OMIM:269920
    • free sialic acid storage disease, infantile form MONDO:0010027
    Green SLC17A5 in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.179

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • General Leukodystrophy & Mitochondrial Leukoencephalopathy
    Green SLC17A5 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.52
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Salla disease, OMIM:604369
    • Sialic acid storage disorder, infantile, OMIM:269920
    Green SLC17A5 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.613

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Literature
    Phenotypes
    • Salla disease, OMIM:604369
    • Sialic acid storage disorder, infantile, OMIM:269920
    Green SLC17A5 in Likely inborn error of metabolism - targeted testing not possible


    Version 4.131
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Salla disease, OMIM:604369
    • Sialic acid storage disorder, infantile, OMIM:269920
    Green SLC17A5 in Fetal anomalies


    Version 3.136
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SALLA DISEASE
    • INFANTILE SIALIC ACID STORAGE DISORDER
    Green SLC17A5 in DDG2P


    Version 3.79
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • INFANTILE SIALIC ACID STORAGE DISORDER 269920
    • SALLA DISEASE 604369
    Green SLC17A5 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.478
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Salla disease, OMIM:604369
    • Sialic acid storage disorder, infantile, OMIM:269920
    Red SLC17A5 in Childhood onset dystonia, chorea or related movement disorder


    Version 3.71
    Latest signed off version: v3.0 (22 Mar 2023)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green SLC17A5 in Severe Paediatric Disorders


    Version 1.182

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Sialic acid storage disorder, infantile, 269920
    • Salla disease, 604369