This Panel is marked as Internal
Dystonia - childhood onset
Gene: HEXA
HEXA (hexosaminidase subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000213614
EnsemblGeneIds (GRCh37): ENSG00000213614
OMIM: 606869, Gene2Phenotype
HEXA is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000213614
EnsemblGeneIds (GRCh37): ENSG00000213614
OMIM: 606869, Gene2Phenotype
HEXA is in 19 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- [Hex A pseudodeficiency] 272800 AR
- GM2-gangliosidosis, several forms 272800
- Tay-Sachs disease 272800
- OMIM
- 606869
- Clinvar variants
- Variants in HEXA
- Penetrance
- None
- Panels with this gene
-
- Lysosomal storage disorder
- Tay-Sachs disease
- Structural basal ganglia disorders
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Intellectual disability
- Inherited white matter disorders
- Ataxia and cerebellar anomalies - narrow panel
- Adult onset leukodystrophy
- Fetal anomalies
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Adult onset dystonia, chorea or related movement disorder
- Hereditary neuropathy or pain disorder
- Hereditary ataxia
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Early onset or syndromic epilepsy
History Filter Activity
9 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Eleanor Williams: Updated to green when making t
19 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: HEXA was added gene: HEXA was added to Dystonia - childhood onset. Sources: Expert Review Red Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HEXA were set to [Hex A pseudodeficiency] 272800 AR; GM2-gangliosidosis, several forms 272800; Tay-Sachs disease 272800