PanelApp
  1. Genes and Genomic Entities
  2. SPTLC2

SPTLC2

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

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green SPTLC2 in Mendeliome


Version 1.3512

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type IC, 613640
  • MONDO:0013337
  • Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis)

Green SPTLC2 in Hereditary Neuropathy_CMT - isolated


Level 2: Neurology and neurodevelopmental disorders
Version 1.68

Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Neuropathy, hereditary sensory and autonomic, type IC, 613640
    • MONDO:0013337
    • HSAN/SFN

    Green SPTLC2 in Pain syndromes


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.36

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  0 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Hereditary sensory and autonomic neuropathy type IC
    • HSAN 1
    • Neuropathy, hereditary sensory and autonomic, type IC, 613640

    Red SPTLC2 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Neuropathy, hereditary sensory and autonomic, type IC

    Green SPTLC2 in Autonomic neuropathy


    Level 2: Autonomic Neuropathy
    Version 0.51

    		1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • OMIM# 613640 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC
    • HSAN1C

    Green SPTLC2 in Miscellaneous Metabolic Disorders


    Level 2: Metabolic disorders
    Version 1.57

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neuropathy, hereditary sensory and autonomic, type IC, MIM# 613640
    • Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis)

    Red SPTLC2 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Neuropathy, hereditary sensory and autonomic, type IC