Genomics England
GMS Panels
Panels
Genes and Entities

NRXN1

neurexin 1
OMIM: 600565
PanelMode of inheritanceDetails
2 panels
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Pitt-Hopkins-like syndrome 2, OMIM:614325 (AR), Complex neurodevelopmental disorder (AD)
Green
in Intellectual disability - microarray and sequencing
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Pitt-Hopkins-like syndrome 2, OMIM:614325 (AR), Complex neurodevelopmental disorder (AD)