SPTLC2

serine palmitoyltransferase long chain base subunit 2
OMIM: 605713, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels
Green SPTLC2 in Familial dysautonomia


Version 1.17

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type IC 613640
Green SPTLC2 in Pain syndromes

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.12

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Hereditary sensory and autonomic neuropathy type IC
  • HSAN 1
  • Neuropathy, hereditary sensory and autonomic, type IC, 613640
Red SPTLC2 in Paroxysmal central nervous system disorders


Version 3.10
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
  • London North GLH
  • Wessex and West Midlands GLH
Phenotypes
  • HSAN 1
  • Hereditary sensory and autonomic neuropathy type IC
  • Neuropathy, hereditary sensory and autonomic, type IC, 613640
Green SPTLC2 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis)
  • Charcot-Marie-Tooth disease
  • Familial dysautonomia
Green SPTLC2 in Likely inborn error of metabolism - targeted testing not possible


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • London North GLH
    • NHS GMS
    Phenotypes
    • Charcot-Marie-Tooth disease
    • Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis)
    • Familial dysautonomia
    Red SPTLC2 in Fetal anomalies


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC
    Green SPTLC2 in DDG2P


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

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, OMIM:613640
    Green SPTLC2 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, imprinted status unknown
    Sources
    • South West GLH
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • Emory Genetics Laboratory
    • UKGTN
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Hereditary Sensory and Autonomic Neuropathy, Type IC
    • Neuropathy, hereditary sensory and autonomic, type IC, 613640
    • Neuropathy, hereditary sensory and autonomic, type IC, 613640
    • Hereditary Sensory and Autonomic Neuropathy, Type IC
    Red SPTLC2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.13
    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, imprinted status unknown
    Sources
    • Expert Review Red
    Phenotypes
    • Neuropathy, hereditary sensory and autonomic, type IC, 613640
    Red SPTLC2 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 5.6
    Latest signed off version: v5.0 (1 May 2024)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • macular telangiectasia type 2
    • vision loss
    • neuropathy
    Green SPTLC2 in Hereditary neuropathy or pain disorder


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

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Radboud University Medical Center, Nijmegen
    • South West GLH
    • Expert Review Green
    • UKGTN
    • Emory Genetics Laboratory
    • Expert list
    • London North GLH
    • Illumina TruGenome Clinical Sequencing Services
    • NHS GMS
    • South West GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Hereditary Sensory and Autonomic Neuropathy, Type IC
    • Neuropathy, hereditary sensory and autonomic, type IC, 613640
    Red SPTLC2 in Childhood onset dystonia, chorea or related movement disorder


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

    review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green SPTLC2 in Severe Paediatric Disorders


    Version 1.184

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neuropathy, hereditary sensory and autonomic, type IC, 613640