Genomics England
GMS Panels
Panels
Genes and Entities

NRCAM

neuronal cell adhesion molecule
OMIM: 601581
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NRCAM neurodevelopmental disorder with dysmorphic features, hypotonia and spasticity
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, OMIM:619833