Progressive Myoclonic Epilepsy
Gene: ATP13A2

ATP13A2 (ATPase 13A2)
EnsemblGeneIds (GRCh38): ENSG00000159363
EnsemblGeneIds (GRCh37): ENSG00000159363
OMIM: 610513, Gene2Phenotype
ATP13A2 is in 14 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 3 families with neuronal ceroid lipofuscinosis (NCL) features and an animal model. A family with a homozygous variant had a phenotype that included severe action myoclonus and early onset seizure. Animal model identified, where a homozygous frameshift caused adult-onset NCL in Tibetan terriers. Biallelic case with fine myoclonus and NCL-like deposits in the brain. Another family with typical NCL pathology in which a single homozygous mutation in ATP13A2 was identified that fully segregates with disease within the family.
Created: 4 Feb 2020, 3:10 a.m. | Last Modified: 4 Feb 2020, 3:10 a.m.

Panel Version: 0.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Kufor-Rakeb syndrome MIM#606693

Publications

Created: 4 Feb 2020, 3:10 a.m.
Last Modified: 4 Feb 2020, 3:10 a.m.
Panel version: 0.3

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Royal Melbourne Hospital
Expert Review Green

Phenotypes

Juvenile parkinsonism-neuronal ceroid lipofuscinosis

OMIM

610513

Clinvar variants

Variants in ATP13A2

Penetrance

None

Panels with this gene

History Filter Activity

9 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ATP13A2 was added gene: ATP13A2 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP13A2 were set to Juvenile parkinsonism-neuronal ceroid lipofuscinosis

Progressive Myoclonic Epilepsy Gene: ATP13A2