1. Genes and Genomic Entities
  2. SNAPIN

SNAPIN

SNAP associated protein
OMIM: 607007, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber SNAPIN 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
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, OMIM:621393
    Tags
    • Q1_26_promote_green
    Amber SNAPIN 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 Amber
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, OMIM:621393
    Amber SNAPIN in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, OMIM:621393
    Tags
    • Q1_26_promote_green