Genetic Epilepsy
Gene: ANKRD17

ANKRD17 (ankyrin repeat domain 17)
EnsemblGeneIds (GRCh38): ENSG00000132466
EnsemblGeneIds (GRCh37): ENSG00000132466
OMIM: 615929, Gene2Phenotype
ANKRD17 is in 5 panels

2 reviews

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

34 predominantly LoF variants reported - 29 de novo, 1 inherited from an affected parent, 1 inherited from a suspected mosaic parent. Main phenotypes were dev delay/ID, motor delay, and speech delay. Epilepsy reported in 9/33.
Created: 3 May 2021, 5:35 a.m. | Last Modified: 3 May 2021, 5:36 a.m.

Panel Version: 0.1070

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Intellectual disability, speech delay, and dysmorphism

Publications

33909992

Variants in this GENE are reported as part of current diagnostic practice

Created: 3 May 2021, 5:35 a.m.
Last Modified: 3 May 2021, 5:36 a.m.
Panel version: 0.1070

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Emerging evidence.
Created: 17 Dec 2019, 5:14 a.m. | Last Modified: 17 Dec 2019, 5:14 a.m.

Panel Version: 0.41

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Chopra-Amiel-Gordan syndrome, MIM# 619504; Intellectual disability; dysmorphic features

Created: 17 Dec 2019, 5:14 a.m.
Last Modified: 17 Dec 2019, 5:14 a.m.
Panel version: 0.1180

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Epilepsy Flagship

Phenotypes

Chopra-Amiel-Gordan syndrome, MIM# 619504
Intellectual disability
dysmorphic features

OMIM

615929

Clinvar variants

Variants in ANKRD17

Penetrance

None

Publications

33909992

Panels with this gene