Early-onset Parkinson disease
Gene: CLN3

CLN3 (CLN3, battenin)
EnsemblGeneIds (GRCh38): ENSG00000188603
EnsemblGeneIds (GRCh37): ENSG00000188603
OMIM: 607042, Gene2Phenotype
CLN3 is in 15 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ceroid lipofuscinosis, neuronal, 3 MIM#204200

Created: 22 Sep 2020, 5:47 a.m.
Last Modified: 22 Sep 2020, 5:47 a.m.
Panel version: 0.57

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Parkinsonism is a prominent feature of this condition.
Created: 24 Mar 2020, 11:06 p.m. | Last Modified: 24 Mar 2020, 11:06 p.m.

Panel Version: 0.12

Phenotypes
Ceroid lipofuscinosis, neuronal, 3 MIM#204200

Publications

Created: 24 Mar 2020, 11:06 p.m.
Last Modified: 24 Mar 2020, 11:06 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Melbourne Genomics Health Alliance Complex Neurology Flagship
Victorian Clinical Genetics Services

Phenotypes

Ceroid lipofuscinosis, neuronal, 3 MIM#204200

OMIM

607042

Clinvar variants

Variants in CLN3

Penetrance

None

Publications

Panels with this gene