Genomics England
GMS Panels
Panels
Genes and Entities

SYP

synaptophysin
OMIM: 313475
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
MENTAL RETARDATION X-LINKED SYP-RELATED 300802
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mental Retardation, X-linked, Mental retardation, X-linked 96, 300802, MENTAL RETARDATION X-LINKED SYP-RELATED (MRXSYP)