NRXN1

PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
PITT HOPKINS 2, AUTISM 209850
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
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)
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Pitt-Hopkins-like syndrome 2, OMIM:614325 (AR), Complex neurodevelopmental disorder (AD)