Genomics England
GMS Panels
Panels
Genes and Entities

SMS

spermine synthase
OMIM: 300105
PanelMode of inheritanceDetails
5 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.102
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE, MRXSSR
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
SNYDER-ROBINSON SYNDROME 309583
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 4.134
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mental retardation, X-linked, Snyder-Robinson type 309583
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.122
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mental retardation, X-linked, Snyder-Robinson type, OMIM:309583, Syndromic X-linked intellectual disability Snyder type, MONDO:0010664
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mental retardation, X-linked, Snyder-Robinson type, 309583, SNYDER-ROBINSON SYNDROME (SRS)