SYN1

synapsin I
OMIM: 313440, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green SYN1 in Mendeliome


Version 1.1891

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epilepsy, X-linked, with variable learning disabilities and behaviour disorders, MIM# 300491
  • Intellectual developmental disorder, X-linked 50, MIM# 300115

Green SYN1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Epilepsy, X-linked, with variable learning disabilities and behaviour disorders, MIM# 300491
    • Intellectual developmental disorder, X-linked 50, MIM# 300115

    Green SYN1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • X-linked complex neurodevelopmental disorder MONDO:0100148
    • epilepsy, X-linked 1, with variable learning disabilities and behavior disorders MONDO:0010339

    Green SYN1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3)

    Red SYN1 in Fetal anomalies


    Version 1.255

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Epilepsy, X-linked, with variable learning disabilities and behaviour disorders, MIM# 300491
    • Intellectual developmental disorder, X-linked 50, MIM# 300115

    Green SYN1 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3)

    Green SYN1 in Prepair 500+


    Level 2: Screening
    Version 1.1

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3)