1. Genes and Genomic Entities
  2. SNAPIN

SNAPIN

SNAP associated protein
OMIM: 607007, Gene2Phenotype

5 panels

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


Level 2: Neurology
Version 9.3
Latest signed off version: v9.0 (6 May 2026)

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
    • neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, MONDO:0980710
    Tags
    • Q1_26_promote_green
    Amber SNAPIN in Malformations of cortical development


    Level 2: Neurology
    Version 8.3
    Latest signed off version: v8.0 (6 May 2026)

    Component of the following Super Panels:

  • Cerebral malformation
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, OMIM:621393
    • neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, MONDO:0980710
    Tags
    • Q2_26_promote_green
    Amber SNAPIN in Arthrogryposis


    Level 2: Neurology
    Version 10.5
    Latest signed off version: v10.0 (6 May 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, OMIM:621393
    • neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, MONDO:0980710
    Tags
    • Q2_26_promote_green
    Amber SNAPIN in Severe microcephaly


    Level 2: Neurology
    Version 9.3
    Latest signed off version: v9.0 (6 May 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, OMIM:621393
    • neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, MONDO:0980710
    Green SNAPIN in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 7.8
    Latest signed off version: v7.0 (6 May 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • neurodevelopmental disorder
    • Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, OMIM:621393
    • neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, MONDO:0980710