Autism
Gene: NRXN1

NRXN1 (neurexin 1)
EnsemblGeneIds (GRCh38): ENSG00000179915
EnsemblGeneIds (GRCh37): ENSG00000179915
OMIM: 600565, Gene2Phenotype
NRXN1 is in 6 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

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 features
Created: 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

Created: 28 Mar 2022, 12:07 a.m.
Last Modified: 28 Mar 2022, 12:07 a.m.
Panel version: 0.180

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Pitt-Hopkins-like syndrome 2 - MIM#614325

OMIM

600565

Clinvar variants

Variants in NRXN1

Penetrance

None

Publications

Panels with this gene