1. Genes and Genomic Entities
  2. SYT14

SYT14

synaptotagmin 14
OMIM: 610949, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Red SYT14 in Ataxia and cerebellar anomalies - childhood onset


Level 2: Neurology
Version 9.26
Latest signed off version: v9.22 (12 Aug 2026)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies, childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Spinocerebellarataxia,autosomalrecessive11,614229
    Red SYT14 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.345

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Spinocerebellarataxia,autosomalrecessive11,614229
    Red SYT14 in Neurodegenerative disorders, adult onset


    Level 2: Neurology
    Version 9.5
    Latest signed off version: v9.4 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Spinocerebellarataxia,autosomalrecessive11,614229
    Red SYT14 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.9
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review Not set
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • psychomotor retardation
    Tags
    • structural-variant
    Red SYT14 in Hereditary ataxia, adult onset


    Level 2: Neurology
    Version 9.5
    Latest signed off version: v9.4 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Red
    • Hereditary ataxia v1.148
    Phenotypes
    • Spinocerebellarataxia,autosomalrecessive11,614229
    • Autosomal recessive spinocerebellar ataxia 11, 614229