SLC5A7

solute carrier family 5 member 7
OMIM: 608761, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Green SLC5A7 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.7
Latest signed off version: v6.0 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Myasthenic syndrome, congenital, 20, presynaptic 617143
Green SLC5A7 in Congenital myaesthenic syndrome

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.6
Latest signed off version: v4.5 (1 May 2024)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Eligibility statement prior genetic testing
    Phenotypes
    • Myasthenic syndrome, congenital, 20, presynaptic, OMIM:617143
    Green SLC5A7 in Fetal anomalies


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Myasthenic syndrome, congenital, 20, presynaptic, OMIM:617143
    • Congenital myasthenic syndrome 20, MONDO:0014939
    Red SLC5A7 in Paediatric motor neuronopathies

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.7
    Latest signed off version: v3.6 (1 May 2024)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Literature
    • UKGTN
    Phenotypes
    • Neuronopathy, distal hereditary motor, type VIIA 158580
    Green SLC5A7 in DDG2P


    Version 4.5
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Congenital Myasthenic Syndrome with Episodic Apnea
    Green SLC5A7 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.478

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • South West GLH
    • NHS GMS
    • London North GLH
    • Expert Review
    Phenotypes
    • Neuronopathy, distal hereditary motor, type VIIA
    Amber SLC5A7 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.24
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    • Expert Review Amber
    • Literature
    Phenotypes
    • Myasthenic syndrome, congenital, 20, presynaptic,CMS20, 617143
    Tags
    • watchlist
    Green SLC5A7 in Hereditary neuropathy or pain disorder


    Version 4.11
    Latest signed off version: v4.0 (1 May 2024)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    • South West GLH
    • London North GLH
    • NHS GMS
    • South West GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Neuronopathy, distal hereditary motor, type VIIA
    Green SLC5A7 in Severe Paediatric Disorders


    Version 1.184

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neuronopathy, distal hereditary motor, type VIIA, 158580
    • Myasthenic syndrome, congenital, 20, presynaptic, 617143