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Childhood onset dystonia, chorea or related movement disorder

Gene: CLN3

Green List (high evidence)

CLN3 (CLN3, battenin)
EnsemblGeneIds (GRCh38): ENSG00000188603
EnsemblGeneIds (GRCh37): ENSG00000188603
OMIM: 607042, Gene2Phenotype
CLN3 is in 14 panels

1 review

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

History Filter Activity

8 Dec 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CLN3 were changed from Ceroid lipofuscinosis, neuronal, 3 to Ceroid lipofuscinosis, neuronal, 3, 204200

6 Dec 2019, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene: CLN3 were changed from to Ceroid lipofuscinosis, neuronal, 3

6 Dec 2019, Gel status: 3

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: CLN3 was changed from to BIALLELIC, autosomal or pseudoautosomal

6 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: CLN3 was added gene: CLN3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: CLN3 was set to