Parkinson Disease and Complex Parkinsonism
Gene: CLN3
CLN3 (CLN3, battenin)
EnsemblGeneIds (GRCh38): ENSG00000188603
EnsemblGeneIds (GRCh37): ENSG00000188603
OMIM: 607042, Gene2Phenotype
CLN3 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000188603
EnsemblGeneIds (GRCh37): ENSG00000188603
OMIM: 607042, Gene2Phenotype
CLN3 is in 14 panels
1 review
Zornitza Stark (Australian Genomics)
Parkinsonism is a prominent feature of this condition.
Sources: Expert listCreated: 25 Aug 2020, 10:16 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 3 MIM#204200
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Phenotypes
-
- Ceroid lipofuscinosis, neuronal, 3 MIM#204200
- OMIM
- 607042
- Clinvar variants
- Variants in CLN3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Retinal disorders
- DDG2P
- Neuronal ceroid lipofuscinosis
- Structural eye disease
- Early onset or syndromic epilepsy
- Hyperammonaemia
- Fetal anomalies
- Glaucoma (developmental)
- Undiagnosed metabolic disorders
- Lysosomal storage disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Parkinson Disease and Complex Parkinsonism
History Filter Activity
25 Aug 2020, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: CLN3 was added gene: CLN3 was added to Parkinson Disease and Complex Parkinsonism. Sources: Expert list Mode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLN3 were set to 19489875; 11342698 Phenotypes for gene: CLN3 were set to Ceroid lipofuscinosis, neuronal, 3 MIM#204200 Review for gene: CLN3 was set to GREEN gene: CLN3 was marked as current diagnostic