1. Genes and Genomic Entities
  2. SYNGAP1

SYNGAP1

synaptic Ras GTPase activating protein 1
OMIM: 603384, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Red SYNGAP1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.194
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 5, OMIM:612621
Green SYNGAP1 in DDG2P


Version 6.447
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 5 612621
    • EPILEPTIC ENCEPHALOPATHY
    Green SYNGAP1 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.195
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    • Expert
    • Expert Review Green
    • UKGTN
    Phenotypes
    • Intellectual developmental disorder, autosomal dominant 5, OMIM:612621
    Green SYNGAP1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.400
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Intellectual developmental disorder, autosomal dominant 5, OMIM:612621
    Green SYNGAP1 in Hereditary ataxia with onset in adulthood


    Level 2: Neurology
    Version 8.30
    Latest signed off version: v8.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • Intellectual developmental disorder, autosomal dominant 5, OMIM:612621