Genes in panel
STRs in panel
Prev Next

Genetic epilepsy syndromes

Gene: NRXN1

Green List (high evidence)

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

9 reviews

Helen Lord (Oxford Medical Genetics Laboratories)

Green List (high evidence)

2 cases of hom/compound het variants assoc with a sever recessive MR syndrome - patients had severe epilepsy
Created: 5 Sep 2019, 2:22 p.m. | Last Modified: 5 Sep 2019, 2:22 p.m.
Panel Version: 1.261

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Rebecca Foulger (Genomics England curator)

I don't know

Comment on mode of inheritance: Kept Mode of Inheritance as 'BOTH monoallelic and biallelic' based on post-Webex review by Helen Lord.
Created: 7 Sep 2019, 11:42 a.m. | Last Modified: 7 Sep 2019, 11:42 a.m.
Panel Version: 1.284
Mode of inheritance collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene is part of a subset where the mode of inheritance was re-reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy. No rating was included in the review, so I have uploaded a Green rating to match the original West Midlands, Oxford and Wessex GLH rating.
Created: 5 Sep 2019, 2:26 p.m. | Last Modified: 5 Sep 2019, 2:26 p.m.
Panel Version: 1.262
Comment on mode of inheritance: PMID:30031152 (Al Shehhi et al.) report heterozygous deletions of NRXN1 with phenotypes including seizures. At least PMID:21964664 (Harrison et al.) and PMID:19896112 report a biallelic mode of inheritance.
Created: 13 Aug 2019, 12:53 p.m. | Last Modified: 13 Aug 2019, 12:53 p.m.
Panel Version: 1.203
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Moller et al 2013 - idiopathic generalised epilepsy. AR Pitt Hopkins like syndrome 2 - epilepsy a feature in 2/3 patients. Zweier et al, 2009 - compound het in an affected girl (stop mutation and a gross del). Harrison et al, 2011 - 2 sisters - severe early onset MR and severe epilepsy - compound het deletions. On HGMD Pro variants reported in this gene assocaited with autism spectrum disorder - not many mention of epilepsy. In addition most variants are gross deletions including some of the gene.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pitt-Hopkins-like syndrome 2 614325; {Schizophrenia, susceptibility to, 17}, 614332

Publications

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotypes in OMIM and as probable Gen2Phen gene for both Pitt-Hopkins-like syndrome 2 and autism. Numerous variants reported in mono or biallelic form in cases displaying a wide range of neurodevelopmental disorders with varied features, including seizures.
Created: 3 Sep 2018, 2:52 p.m.
Comment on phenotypes: Some cases of {Schizophrenia, susceptibility to, 17} 614332 and autism also display seizures.
Created: 3 Sep 2018, 2:49 p.m.

Zornitza Stark (Australian Genomics)

I don't know

Seizures are part of the phenotype of both NRXN1 deletions and of bi-allelic variants.
Created: 17 Aug 2018, 11:17 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Amy McTague (UCL Institute of Child Health)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pitt-Hopkins-like syndrome 2 (AR); severe intellectual disability (AD)

Publications

  • Zweier et al (2009) Am J Hum Genet 85: 655_666
  • Gregor et al. BMC Medical Genetics 2011, 12.106

Variants in this GENE are reported as part of current diagnostic practice

Natalie Trump (NHS - Great Ormond Street Hospital)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pitt-Hopkins-like syndrome 2 (AR); severe intellectual disability (AD)

Publications

  • Zweier et al (2009) Am J Hum Genet 85: 655_666
  • Gregor et al. BMC Medical Genetics 2011, 12.106

Variants in this GENE are reported as part of current diagnostic practice

Manju Kurian (UCL-Institute of Child Health)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pitt-Hopkins-like syndrome 2 (AR); severe intellectual disability (AD)

Publications

  • Zweier et al (2009) Am J Hum Genet 85: 655_666
  • Gregor et al. BMC Medical Genetics 2011, 12.106

Variants in this GENE are reported as part of current diagnostic practice

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pitt-Hopkins-like syndrome 2 (AR); severe intellectual disability (AD)

Publications

  • Zweier et al (2009) Am J Hum Genet 85: 655 666
  • Gregor et al. BMC Medical Genetics 2011, 12.106

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
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
OMIM
600565
Clinvar variants
Variants in NRXN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Sep 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

7 Sep 2019, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: NRXN1 were set to 21964664; 19896112; 30031152; 23533028

7 Sep 2019, Gel status: 3

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: NRXN1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

13 Aug 2019, Gel status: 3

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: NRXN1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to NRXN1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to NRXN1.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are part of the pheno

3 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

3 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

3 Sep 2018, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: NRXN1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

3 Sep 2018, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: NRXN1 were set to Pitt-Hopkins-like syndrome 2, 614325

3 Sep 2018, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: NRXN1 were set to Pitt-Hopkins-like syndrome 2, 614325

3 Sep 2018, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: NRXN1 were set to 21964664; 19896112; 30031152; 23533028

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to NRXN1. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to NRXN1. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

NRXN1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert,UKGTN

4 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

NRXN1 was created by Sarah Leigh