SVBP

small vasohibin binding protein
Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green SVBP in Mendeliome


Version 1.2511

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, MIM #618569
  • Spastic paraplegia 94, autosomal recessive, MIM# 621150
Tags
  • founder

Green SVBP in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.303

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly
  • OMIM #618569
Tags
  • founder

Green SVBP in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.117

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, MIM #618569
  • Spastic paraplegia 94, autosomal recessive, MIM# 621150
Tags
  • founder

Green SVBP in Ataxia - paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 1.34

Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, 618569
    Tags
    • founder

    Amber SVBP in Hereditary Spastic Paraplegia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.90

    Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Spastic paraplegia 94, autosomal recessive, MIM# 621150
    Tags
    • founder