1. Genes and Genomic Entities
  2. SVBP

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


Level 2: Neurology
Version 8.63
Latest signed off version: v8.0 (30 Apr 2025)

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
    Tags
    • gene-checked
    Green SVBP in Severe microcephaly


    Level 2: Neurology
    Version 8.31
    Latest signed off version: v8.0 (30 Apr 2025)

    		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


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    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