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Intellectual disability syndromic and non-syndromic

Gene: NRXN2

Red List (low evidence)

NRXN2 (neurexin 2)
EnsemblGeneIds (GRCh38): ENSG00000110076
EnsemblGeneIds (GRCh37): ENSG00000110076
OMIM: 600566, Gene2Phenotype
NRXN2 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single individual reported with autism and a paternally inherited variant in this gene, father had a language disorder. Another infant reported with severe EE and a maternally inherited variants in NRXN1 and a paternally inherited variant in NRXN2. Some animal data.
Created: 8 Dec 2019, 4:08 a.m. | Last Modified: 8 Dec 2019, 4:08 a.m.
Panel Version: 0.885

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Autism

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Autism
OMIM
600566
Clinvar variants
Variants in NRXN2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nrxn2 has been classified as Red List (Low Evidence).

8 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NRXN2 were changed from to Autism

8 Dec 2019, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NRXN2 were set to

8 Dec 2019, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NRXN2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

8 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nrxn2 has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NRXN2 was added gene: NRXN2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NRXN2 was set to Unknown