Childhood onset dystonia, chorea or related movement disorder
Gene: HEXAConfirmed Green rating - as per recommendation from Specialist Test Group (via Robyn Labrum LNGLH) 12 December 2019. Input from clinicians (London GLH) TAY-SACHS DISEASE: in some individuals, extrapyramidal signs of dystonia, choreoathetosis, and ataxia may be evident; age of onset ranges from early childhood to the end of the first decade.Created: 12 Dec 2019, 3:23 p.m. | Last Modified: 12 Dec 2019, 3:23 p.m.
Panel Version: 0.257
Suggested by Huw and RaquelCreated: 9 Jul 2019, 4:24 p.m. | Last Modified: 9 Jul 2019, 4:24 p.m.
Panel Version: 0.9
Infantile/ Juvenile form can have myoclonic jerks/ataxia. Dystonia can be present in chronic disorder but does not appear to be predominant feature.Created: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
Phenotypes for gene: HEXA were changed from [Hex A pseudodeficiency] 272800 AR; GM2-gangliosidosis, several forms 272800; Tay-Sachs disease 272800 to Hex A pseudodeficiency, 272800 AR; GM2-gangliosidosis, several forms, 272800; Tay-Sachs disease, 272800
Source South West GLH was added to HEXA. Mode of inheritance for gene HEXA was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes [Hex A pseudodeficiency] 272800 AR; GM2-gangliosidosis, several forms 272800; Tay-Sachs disease 272800 for gene: HEXA
gene: HEXA was added gene: HEXA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: HEXA was set to