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Genetic Epilepsy

Gene: CNTN2

Green List (high evidence)

CNTN2 (contactin 2)
EnsemblGeneIds (GRCh38): ENSG00000184144
EnsemblGeneIds (GRCh37): ENSG00000184144
OMIM: 190197, Gene2Phenotype
CNTN2 is in 2 panels

3 reviews

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

Additional family, consanguineous, homozygous variants segregated in 3 affected sibs and was not homozygous in unaffected sib. Seizures later childhood onset and mild ID.
Maybe green? but homozygous variant so maybe still amber.
Created: 4 Dec 2023, 1:50 a.m. | Last Modified: 4 Dec 2023, 1:50 a.m.
Panel Version: 0.1950

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Epilepsy, myoclonic, familial adult, 5 MIM#615400

Publications

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Now two families with epilepsy and a supporting mouse model
Created: 11 Nov 2021, 4:21 a.m. | Last Modified: 11 Nov 2021, 4:21 a.m.
Panel Version: 0.1377

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epilepsy

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family reported in 2013, supportive mouse model.
Sources: Literature
Created: 7 Aug 2020, 1:37 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epilepsy

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epilepsy, MONDO:0015653, CNTN2-related
  • Epilepsy, myoclonic, familial adult, 5 MIM#615400
OMIM
190197
Clinvar variants
Variants in CNTN2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Dec 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CNTN2 were changed from Epilepsy, MONDO:0015653, CNTN2-related to Epilepsy, MONDO:0015653, CNTN2-related; Epilepsy, myoclonic, familial adult, 5 MIM#615400

4 Dec 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cntn2 has been classified as Green List (High Evidence).

26 Sep 2023, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CNTN2 were set to 23518707

26 Sep 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CNTN2 were changed from Epilepsy to Epilepsy, MONDO:0015653, CNTN2-related

11 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cntn2 has been classified as Amber List (Moderate Evidence).

11 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cntn2 has been classified as Amber List (Moderate Evidence).

7 Aug 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CNTN2 was added gene: CNTN2 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: CNTN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CNTN2 were set to 23518707 Phenotypes for gene: CNTN2 were set to Epilepsy Review for gene: CNTN2 was set to RED