SYP

synaptophysin
OMIM: 313475, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red SYP in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 8.17
Latest signed off version: v8.0 (12 Aug 2026)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENTAL RETARDATION X-LINKED SYP-RELATED
Green SYP in DDG2P


Version 8.2
Latest signed off version: v8.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MENTAL RETARDATION X-LINKED SYP-RELATED 300802
    Green SYP in Intellectual disability


    Level 2: Developmental disorders
    Version 11.44
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Intellectual developmental disorder, X-linked 96, OMIM:300802
    • intellectual disability, X-linked 96, MONDO:0010429
    Tags
    • Q3_26_demote_amber
    • Q3_26_expert_review