Dystonia - childhood onset
Gene: GNALEnsemblGeneIds (GRCh38): ENSG00000141404
EnsemblGeneIds (GRCh37): ENSG00000141404
OMIM: 139312, Gene2Phenotype
GNAL is in 6 panels
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Dystonia 25, 615073
- Tags
- OMIM
- 139312
- Clinvar variants
- Variants in GNAL
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Eleanor Williams: Updated to green when making t
Added Tag
Eleanor Williams (Genomics England Curator)Tag watchlist tag was added to gene: GNAL.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: GNAL was added gene: GNAL was added to Dystonia - childhood onset. Sources: Expert Review Amber Mode of inheritance for gene: GNAL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GNAL were set to 23222958; 27093447; 27222887; 24729450; 26725140; 27123488; 24151159; 23449625; 25847575; 20301334; 26810727; 24408567; 23759320; 26365774; 26506956; 25382112; 24535567 Phenotypes for gene: GNAL were set to Dystonia 25, 615073