Gene Dossiers

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Gene dossier Disorders Genes
Lateral Meningocele Syndrome

Exeter RGC - 2016

  • Lateral Meningocele Syndrome
    • Lehman Syndrome
  • notch 3
    • notch homolog 3 (drosophila)
    • notch, drosophila, homolog of, 3
Learning Disability, Developmental Delay, Congenital Anomalies (copy number analysis by NGS)

Leeds RGC - 2015

  • Learning Disability, Developmental Delay, Congenital Anomalies (Copy Number Analysis By NGS)
  • Various Genes
    • aCGH
    • arrayCGH
    • microarray
Learning Disability, Developmental Delay, Congenital Anomalies (First Line)

London South East RGC GSTT - 2010

  • Learning Disability Or Developmental Delay With Dysmorphism Or Congenital Malformations (First Line)
    • Intellectual Disability
    • Syndromic Mental Retardation
  • Various Genes
    • aCGH
    • arrayCGH
    • microarray
Learning Disability, Developmental Delay, Congenital Anomalies (Second Line)

Salisbury RGC - 2009

  • Learning Disability Or Developmental Delay With Dysmorphism Or Congenital Malformations (Second Line)
    • Intellectual Disability
    • Syndromic Mental Retardation
  • Various Genes
    • aCGH
    • arrayCGH
    • microarray
Legius Syndrome

Cardiff RGC - 2008

  • Legius Syndrome
    • Neurofibromatosis, Type 1-Like Syndrome
  • sprouty-related, EVH1 domain containing 1
Leopard and Noonan Syndrome

London South West RGC St Georges - 2008

Lethal Fetal/Neonatal Autosomal Recessive Disorders Whole Exome Panel

Exeter RGC - 2015

  • Lethal Fetal/Neonatal Autosomal Recessive Disorders
  • Various Genes
    • aCGH
    • arrayCGH
    • microarray
Lipodystrophy, Familial Partial, Type 3

Cambridge RGC - 2012

  • Lipodystrophy, Familial Partial, Type 3
    • Lipodystrophy, Familial Partial, Associated With PPARG Mutation
  • peroxisome proliferator-activated receptor gamma
    • peroxisome proliferative activated receptor, gamma
Lipoprotein Lipase Deficiency

Aberdeen RGC - 2014

  • Apolipoprotein C-II Deficiency
    • APOC2 Deficiency
    • C-II Anapolipoproteinemia
    • Hyperlipoproteinemia, Type IB
  • Hyperlipoproteinemia, Type I
    • Chylomicronemia, Familial
    • Hyperchylomicronemia, Familial
    • Hyperlipemia, Essential Familial
    • Hyperlipemia, Idiopathic, Burger-Grutz Type
    • Hyperlipoproteinemia, Type IA
    • Lipase D Deficiency
    • LIPD Deficiency
    • Lipoprotein Lipase Deficiency
    • LPL Deficiency
  • Hyperlipoproteinemia, Type ID
  • Hyperlipoproteinemia, Type V
    • Hyperchylomicronemia With Hyperprebetalipoproteinemia, Familial
    • Hyperchylomicronemia, Late-Onset
    • Hyperlipemia, Combined Fat And Carbohydrate-Induced
    • Hyperlipemia, Mixed
    • Hyperlipidemia, Type V
  • Lipase Deficiency, Combined
    • Lipoprotein Lipase Deficiency With Hepatic Triglyceride Lipase Deficiency
    • LPL and HL Deficiency
    • LPL and HTGL Deficiency
  • apolipoprotein A5
    • apolipoprotein A-V
  • apolipoprotein C2
    • apolipoprotein C-II
  • glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1
    • GPI anchored high density lipoprotein binding protein 1
  • lipase maturation factor 1
    • chromosome 16 open reading frame 26
    • transmembrane protein 112
  • lipoprotein lipase
    • high density lipoprotein cholesterol level quantitative trait locus 11
Lissencephaly 3

Cardiff RGC - 2009

  • Lissencephaly 3
  • tubulin alpha 1A
    • tubulin, alpha, brain-specific

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