Dystonia - childhood onset

Gene: MCOLN1

Red List (low evidence)

MCOLN1 (mucolipin 1)
EnsemblGeneIds (GRCh38): ENSG00000090674
EnsemblGeneIds (GRCh37): ENSG00000090674
OMIM: 605248, Gene2Phenotype
MCOLN1 is in 16 panels

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History Filter Activity

9 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Eleanor Williams: Updated to green when making t

19 Dec 2018, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: MCOLN1 was added gene: MCOLN1 was added to Dystonia - childhood onset. Sources: Expert Review Red Mode of inheritance for gene: MCOLN1 was set to Unknown Phenotypes for gene: MCOLN1 were set to Dystonia