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


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

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 3: DNA repair disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 5.7
    Latest signed off version: v5.0 (1 May 2024)

    		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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.11
    Latest signed off version: v6.0 (1 May 2024)

    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