Adult onset dystonia, chorea or related movement disorder
Gene: GNAL
Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 1:19 p.m.
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 12:18 p.m.
Numerous accounts of variants, generally with adult onset. PMID 23449625 suggests there may be incomplete penetrance.Created: 23 Apr 2019, 12:14 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dystonia 25, 615073; adult-onset cranio-cervical dystonia
Publications
Phenotypes for gene: GNAL were changed from adult-onset cranio-cervical dystonia; Dystonia 25, 615073 to Dystonia 25, OMIM:615073
Gene: gnal has been classified as Green List (High Evidence).
Source London North GLH was added to GNAL.
Added phenotypes adult-onset cranio-cervical dystonia; Dystonia 25, 615073 for gene: GNAL Publications for gene GNAL were changed from 23222958; 27093447; 27222887; 24729450; 26725140; 23759320; 27123488; 24151159; 23449625; 25847575; 26810727; 24408567; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 26365774; 26506956; 25382112; 24535567 to 23449625; 26810727; 23222958; 25847575; 26725140; 27123488; 24408567; 26365774; 25382112; 27093447; 24535567; 23759320; 27222887; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 24151159; 26506956; 24729450
Source NHS GMS was added to GNAL.
Source South West GLH was added to GNAL.
gene: GNAL was added gene: GNAL was added to Adult onset movement disorder. 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; 23759320; 27123488; 24151159; 23449625; 25847575; 26810727; 24408567; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 26365774; 26506956; 25382112; 24535567 Phenotypes for gene: GNAL were set to Dystonia 25, 615073; adult-onset cranio-cervical dystonia