Dystonia - childhood onset

Gene: AFG3L2

Red List (low evidence)

AFG3L2 (AFG3 like matrix AAA peptidase subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000141385
EnsemblGeneIds (GRCh37): ENSG00000141385
OMIM: 604581, Gene2Phenotype
AFG3L2 is in 19 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: AFG3L2 was added gene: AFG3L2 was added to Dystonia - childhood onset. Sources: Expert Review Red Mode of inheritance for gene: AFG3L2 was set to Unknown Phenotypes for gene: AFG3L2 were set to Dystonia