Dystonia - complex

Gene: CLN3

Green List (high evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Movement disorders, including dystonia, are a feature of Batten disease.
Sources: Expert list
Created: 5 Sep 2020, 4:40 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ceroid lipofuscinosis, neuronal, 3 204200

Publications

History Filter Activity

5 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cln3 has been classified as Green List (High Evidence).

5 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cln3 has been classified as Green List (High Evidence).

5 Sep 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CLN3 was added gene: CLN3 was added to Dystonia - complex. Sources: Expert list Mode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLN3 were set to 19353721 Phenotypes for gene: CLN3 were set to Ceroid lipofuscinosis, neuronal, 3 204200 Review for gene: CLN3 was set to GREEN