SVBP

small vasohibin binding protein
Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber SVBP in Ataxia and cerebellar anomalies - narrow panel


Version 4.56
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, OMIM:618569
    • Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, MONDO:0032816
    Green SVBP in Severe microcephaly

    Level 3: DNA repair disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 4.59
    Latest signed off version: v4.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, OMIM:618569
    • Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, MONDO:0032816
    Tags
    • gene-checked
    Green SVBP in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.453
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, OMIM:618569
    • Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, MONDO:0032816
    Tags
    • gene-checked