SMS

spermine synthase
OMIM: 300105, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Amber SMS in Fetal anomalies


Version 1.73
Signed off v.1.2 on 17 Feb 2020

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SNYDER-ROBINSON SYNDROME

Amber SMS in DDG2P


Version 2.8
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • SNYDER-ROBINSON SYNDROME 309583

    Red SMS in Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.37
    Signed off v.2.5 on 13 Feb 2020

    review Not set
    Sources
    • Expert

    Green SMS in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.3
    Signed off v.2.2 on 4 Mar 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    Phenotypes
    • MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE
    • MRXSSR

    Green SMS in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.118
    Signed off v.2.2 on 13 Feb 2020

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Expert
    Phenotypes
    • Mental retardation, X-linked, Snyder-Robinson type 309583

    Green SMS in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.160
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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
    Phenotypes
    • Mental retardation, X-linked, Snyder-Robinson type, 309583
    • SNYDER-ROBINSON SYNDROME (SRS)

    Green SMS in Severe Paediatric Disorders


    Version 1.6

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mental retardation, X-linked, Snyder-Robinson type, 309583