PanelApp
  1. Genes and Genomic Entities
  2. SMS

SMS

spermine synthase
OMIM: 300105, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green SMS in Mendeliome


Version 1.3512

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, MIM# 309583
  • Syndromic X-linked intellectual disability Snyder type, MONDO:0010664

Green SMS in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.267

Component of the following Super Panels:

  • Progressive Neurological Conditions

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

    Green SMS in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, MIM# 309583
    • Syndromic X-linked intellectual disability Snyder type, MONDO:0010664

    Green SMS in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Mental retardation, X-linked, Snyder-Robinson type, 309583 (3)

    Green SMS in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.278

    		1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    Phenotypes
    • Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, MIM# 309583
    • Syndromic X-linked intellectual disability Snyder type, MONDO:0010664

    Red SMS in Fetal anomalies


    Version 1.465

    		1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Mental retardation, X-linked, Snyder-Robinson type, OMIM:309583
    • Syndromic X-linked intellectual disability Snyder type, MONDO:0010664

    Green SMS in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type MIM#309583