Genomics England
GMS Panels
Panels
Genes and Entities

SNX27

sorting nexin family member 27
OMIM: 611541
PanelMode of inheritanceDetails
1 panel
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Generalized hypotonia, Global developmental delay, Intellectual disability, Seizures