Childhood onset dystonia, chorea or related movement disorder
Gene: GNALComment on list classification: Changed from Amber to Green as per recommendation from Specialist Test Group (via Robyn Labrum LNGLH) 12 December 2019. Multiple unrelated familiesCreated: 12 Dec 2019, 2:23 p.m. | Last Modified: 12 Dec 2019, 2:23 p.m.
Panel Version: 0.257
Comment on list classification: downgraded until Specialist Test Group review rating in view of age of onset Average age at onset 31 years (range 7 to 54)
Monoallelic mutations have been associated with adult-onset cranio-cervical dystonia - PMID: 23222958 (more than 2 families with adult onset of focal dystonia (plus plus neck), which often progresses to involve other regions), 23449625 (4 families with reduced penetrance, adult onset of focal dystonia), 23759320 (2 chinese families and sporadic adult onset generalized dystonia), 24151159 (3 sporadic cases with adult-onset dystonia involving the neck and or face), 24408567 (1 sporadic case adult-onset dystonia), 24535567 (2 families with craniocervical dystonia), 24729450 (1 sporadic cervical dystonia, DE NOVO), 25382112 (2 sporadic with dystonia) plus other similar publications. ONE BIALLELIC MUTATION described in 27222887 1 girl from cons parents with generalised dystonia and mild ID.Created: 7 Dec 2019, 9:16 p.m. | Last Modified: 7 Dec 2019, 9:24 p.m.
Panel Version: 0.119
PMID 23222958 describes age of onset from 7-54 years, with average age of onset 31.3 yrs. PMID 23449625 suggests there may be incomplete penetrance.Created: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
Gene: gnal has been classified as Green List (High Evidence).
Gene: gnal has been classified as Amber List (Moderate Evidence).
Source PanelApp was added to GNAL. Added phenotypes Dystonia 25, 615073 for gene: GNAL Publications for gene GNAL were changed from to 25847575; 20301334; 24151159; 23222958; 26810727; 24535567; 27222887; 23759320; 25382112; 24408567; 26506956; 23449625; 24729450; 26725140; 26365774; 27123488; 27093447
Source South West GLH was added to GNAL. Mode of inheritance for gene GNAL was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Dystonia 25, 615073 for gene: GNAL
gene: GNAL was added gene: GNAL was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: GNAL was set to