NRXN1

neurexin 1
OMIM: 600565, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber NRXN1 in Autism


Version 0.15

review Not set
Sources
  • Expert Review Amber
  • SFARI

No list NRXN1 in Fetal anomalies


Version 1.0

review Not set
Sources
  • Expert Review Removed

Amber NRXN1 in DDG2P


Version 2.0

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Amber
Phenotypes
  • PITT HOPKINS 2
  • AUTISM 209850

Green NRXN1 in Genetic epilepsy syndromes

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 2.0

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
  • UKGTN
  • Expert
Phenotypes
  • Pitt-Hopkins-like syndrome 2, 614325

Green NRXN1 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.0

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Pitt-Hopkins-like syndrome 2, 614325{Schizophrenia, susceptibility to, 17}, 614332
  • AUTISM