This Panel is marked as Deleted
GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH
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
1 review
Emily Jones (North Bristol NHS Trust)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- South West GLH
- Phenotypes
-
- GM2-gangliosidosis, several forms 272800
- [Hex A pseudodeficiency] 272800 AR
- Tay-Sachs disease 272800
- OMIM
- 606869
- Clinvar variants
- Variants in HEXA
- Penetrance
- None
- Panels with this gene
-
- Tay-Sachs disease
- Structural basal ganglia disorders
- White matter disorders and cerebral calcification - narrow panel
- Hereditary ataxia with onset in adulthood
- Adult onset leukodystrophy
- DDG2P
- Undiagnosed metabolic disorders
- Fetal anomalies
- Intellectual disability
- Inherited white matter disorders
- Hereditary ataxia
- Lysosomal storage disorder
- Adult onset neurodegenerative disorder
- Early onset or syndromic epilepsy
- Hereditary neuropathy or pain disorder
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Adult onset dystonia, chorea or related movement disorder
- Ataxia and cerebellar anomalies - narrow panel
History Filter Activity
9 Jul 2019, Gel status: 2
Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene HEXA was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes GM2-gangliosidosis, several forms 272800; [Hex A pseudodeficiency] 272800 AR; Tay-Sachs disease 272800 for gene: HEXA
2 Apr 2019, Gel status: 2
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Amber was added to HEXA. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
2 Apr 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: HEXA was added gene: HEXA was added to GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH. Sources: South West GLH Mode of inheritance for gene: HEXA was set to