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Autism

Gene: CTNND2

Amber List (moderate evidence)
CTNND2 (catenin delta 2)
EnsemblGeneIds (GRCh38): ENSG00000169862
EnsemblGeneIds (GRCh37): ENSG00000169862
OMIM: 604275, Gene2Phenotype
CTNND2 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two individuals with intragenic deletions. One family with missense variant and epilepsy. Association with autism in a large cohort and zebrafish model.
Created: 17 Jan 2020, 5:43 a.m. | Last Modified: 17 Jan 2020, 5:43 a.m.
Panel Version: 0.38

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability; Autism; Epilepsy

Publications

Created: 17 Jan 2020, 5:43 a.m.
Last Modified: 17 Jan 2020, 5:43 a.m.
Panel version: 0.38

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual disability
  • Autism
  • Epilepsy
OMIM
604275
Clinvar variants
Variants in CTNND2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ctnnd2 has been classified as Amber List (Moderate Evidence).

17 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ctnnd2 has been classified as Amber List (Moderate Evidence).

17 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CTNND2 were changed from to Intellectual disability; Autism; Epilepsy

17 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CTNND2 were set to

17 Jan 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CTNND2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CTNND2 was added gene: CTNND2 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CTNND2 was set to Unknown