Childhood onset dystonia, chorea or related movement disorder

Gene: GNAL

Comment on list classification: Changed from Amber to Green as per recommendation from Specialist Test Group (via Robyn Labrum LNGLH) 12 December 2019. Multiple unrelated families

Created: 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

Green List (high evidence)

Green List (high evidence)

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