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Intellectual disability syndromic and non-syndromic

Gene: NRXN1

Green List (high evidence)

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: 0.4621

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pitt-Hopkins-like syndrome 2 - MIM#614325

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Pitt-Hopkins-like syndrome 2 - MIM#614325
OMIM
600565
Clinvar variants
Variants in NRXN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nrxn1 has been classified as Green List (High Evidence).

28 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NRXN1 were changed from to Pitt-Hopkins-like syndrome 2 - MIM#614325

28 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NRXN1 were set to

28 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NRXN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NRXN1 was added gene: NRXN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NRXN1 was set to Unknown