Adult onset dystonia, chorea or related movement disorder
Gene: HEXAEnsemblGeneIds (GRCh38): ENSG00000213614
EnsemblGeneIds (GRCh37): ENSG00000213614
OMIM: 606869, Gene2Phenotype
HEXA is in 19 panels
2 reviews
Louise Daugherty (Genomics England Curator)
This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain REDCreated: 19 Jun 2019, 4:16 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.
Emily Jones (North Bristol NHS Trust)
Infantile/ Juvenile form can have myoclonic jerks/ataxia.Adult onset does not appear to have movement disorderCreated: 23 Apr 2019, 12:14 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM2-gangliosidosis, several forms 272800; Tay-Sachs disease 272800; Hex A pseudodeficiency 272800
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- South West GLH
- Expert Review Red
- Phenotypes
-
- Hex A pseudodeficiency 272800
- GM2-gangliosidosis, several forms 272800
- Tay-Sachs disease 272800
- OMIM
- 606869
- Clinvar variants
- Variants in HEXA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary ataxia
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Lysosomal storage disorder
- Childhood onset dystonia, chorea or related movement disorder
- Tay-Sachs disease
- Structural basal ganglia disorders
- White matter disorders and cerebral calcification - narrow panel
- Adult onset dystonia, chorea or related movement disorder
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- Adult onset leukodystrophy
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
History Filter Activity
Set Phenotypes, Set publications
Louise Daugherty (Genomics England Curator)Added phenotypes Hex A pseudodeficiency 272800; GM2-gangliosidosis, several forms 272800; Tay-Sachs disease 272800 for gene: HEXA Publications for gene HEXA were changed from to 20301397; 18642377
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to HEXA.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to HEXA.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: HEXA was added gene: HEXA was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HEXA were set to GM2-gangliosidosis, several forms 272800; Tay-Sachs disease 272800; Hex A pseudodeficiency 272800