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  3. ANK2
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Genetic Epilepsy

Gene: ANK2

Green List (high evidence)
ANK2 (ankyrin 2)
EnsemblGeneIds (GRCh38): ENSG00000145362
EnsemblGeneIds (GRCh37): ENSG00000145362
OMIM: 106410, Gene2Phenotype
ANK2 is in 11 panels

1 review

Karina Sandoval (Victorian Clinical Genetics Services)

Green List (high evidence)

Paper included 12 individuals with LoF variants. 11 were confirmed de novo. Paper found broad NND comprising of ID, ASD and early onset epilepsy, both mild and severed ID & epilepsy.
Variants included 4 nonsense, 3 fs, 3 canonical splice, and 2 partial gene dels.
Early childhood epilepsy was reported in 7 of 12 patients. 4 patients had neonatal onset epilepsy. 1 patient had bilateral tonic-clinic seizures at 3 years of age. Another patient had focal epilepsy with focal motor seizures.
Sources: Literature
Created: 1 Jun 2023, 1:46 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epilepsy, MONDO:0005027, Complex neurodevelopmental disorder, MONDO:0100038

Publications

Created: 1 Jun 2023, 1:46 a.m.

Panel version: 0.1851

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Complex neurodevelopmental disorder, MONDO:0100038, ANK2-related
OMIM
106410
Clinvar variants
Variants in ANK2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jun 2023, Gel status: 3

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: ANK2 were changed from Complex neurodevelopmental disorder, MONDO:0100038, ANK2-related to Complex neurodevelopmental disorder, MONDO:0100038, ANK2-related

1 Jun 2023, Gel status: 3

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: ANK2 were changed from Complex neurodevelopmental disorder, MONDO:0100038, ANK2-related to Complex neurodevelopmental disorder, MONDO:0100038, ANK2-related

1 Jun 2023, Gel status: 3

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: ANK2 were changed from Epilepsy, MONDO:0005027, Complex neurodevelopmental disorder, MONDO:0100038 to Complex neurodevelopmental disorder, MONDO:0100038, ANK2-related

1 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: ank2 has been classified as Green List (High Evidence).

1 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: ank2 has been classified as Green List (High Evidence).

1 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: ank2 has been classified as Green List (High Evidence).

1 Jun 2023, Gel status: 0

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

Karina Sandoval (Victorian Clinical Genetics Services)

gene: ANK2 was added gene: ANK2 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ANK2 were set to PMID:37195288 Phenotypes for gene: ANK2 were set to Epilepsy, MONDO:0005027, Complex neurodevelopmental disorder, MONDO:0100038 Review for gene: ANK2 was set to GREEN