Autism
Gene: ANK2

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Link with cardiac abnormalities such as LongQT is DISPUTED. More than 10 unrelated individuals reported with neurodevelopmental phenotype, comprising autism/ID and de novo truncating variants, in addition to many other individuals as part of large NDD cohorts. This association has been assessed as DEFINITIVE by ClinGen.
Created: 2 Aug 2021, 2:06 a.m. | Last Modified: 2 Aug 2021, 2:06 a.m.

Panel Version: 0.163

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Complex neurodevelopmental disorder, MONDO:0100038

Publications

Created: 2 Aug 2021, 2:06 a.m.
Last Modified: 2 Aug 2021, 2:06 a.m.
Panel version: 0.163

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Complex neurodevelopmental disorder, MONDO:0100038

OMIM

106410

Clinvar variants

Variants in ANK2

Penetrance

None

Publications

Panels with this gene