Autism
Gene: NRXN1
19896112 - report one individual with compound het variants and Pitt-Hopkins-like syndromic ID (no seizures)
21964664 - report 2 affected siblings with compound het variants and severe early onset epilepsy, profound developmental delay, gastroesophageal reflux disease, constipation, and early onset puberty.
35101781 - report 2 siblings with homozygous exonic deletions. One with infantile spasms and neurodevelopmental disorder. Other with autism spectrum disorder.
22337556 - report one individual with autism, ID and epilepsy and compound het variants
25486015 - report one individual with homozygous exonic deletion and ID/dysmorphic featuresCreated: 28 Mar 2022, 12:07 a.m. | Last Modified: 28 Mar 2022, 12:07 a.m.
Panel Version: 0.180
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pitt-Hopkins-like syndrome 2 - MIM#614325
Publications
Gene: nrxn1 has been classified as Green List (High Evidence).
Phenotypes for gene: NRXN1 were changed from to Pitt-Hopkins-like syndrome 2 - MIM#614325
Publications for gene: NRXN1 were set to
Mode of inheritance for gene: NRXN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: NRXN1 was added gene: NRXN1 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NRXN1 was set to Unknown