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DDG2P

Gene: NRXN2

Red List (low evidence)
NRXN2 (neurexin 2)
EnsemblGeneIds (GRCh38): ENSG00000110076
EnsemblGeneIds (GRCh37): ENSG00000110076
OMIM: 600566, Gene2Phenotype
NRXN2 is in 3 panels

3 reviews

Eleanor Williams (Genomics England Curator)

This gene currently no disease phenotype in OMIM, so checked this is the correct gene by cross checking the Ensembl ID in Gene2Phenotype and in PanelApp - they are the same so adding the gene-checked tag https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=648
Created: 16 Oct 2023, 7:14 p.m. | Last Modified: 16 Oct 2023, 7:14 p.m.
Panel Version: 3.73
Created: 16 Oct 2023, 7:14 p.m.
Last Modified: 16 Oct 2023, 7:14 p.m.
Panel version: 3.73

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for NRXN2-related autism are limited, monoallelic_autosomal and loss of function (PMIDs: 21424692, 36923655, 38739110). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00534.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
This gene has now been downgraded to 'limited' rating on the DD panel in Gene2Phenotype resource. So, it will be demoted to red on this panel in the next GMS update.
Created: 4 Oct 2025, 12:55 p.m. | Last Modified: 4 Oct 2025, 12:55 p.m.
Panel Version: 6.5
The DDG2P confidence category for the disease AUTISM, OMIM:209850 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product.
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
AUTISM, OMIM:209850; OMIM:209850.0; NRXN2-related autism; MONDO:0005260

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: probable.
Created: 19 Nov 2018, 11:30 a.m.
Created: 19 Nov 2018, 11:30 a.m.

Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • DD-Gene2Phenotype
Phenotypes
  • AUTISM 209850
Tags
gene-checked
OMIM
600566
Clinvar variants
Variants in NRXN2
Penetrance
None
Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 1

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Red was added to NRXN2. Rating Changed from Green List (high evidence) to Red List (low evidence)

16 Oct 2023, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked tag was added to gene: NRXN2.

4 Oct 2023, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to NRXN2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: probabl

19 Nov 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: NRXN2 was added gene: NRXN2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NRXN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NRXN2 were set to AUTISM 209850