Ataxia and cerebellar anomalies - 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 Green
- Phenotypes
-
- GM2-gangliosidosis, several forms, 272800
- Tay-Sachs disease, 272800
- OMIM
- 606869
- Clinvar variants
- Variants in HEXA
- Penetrance
- None
- Panels with this gene
-
- Hereditary ataxia, adult onset
- DDG2P
- Leukodystrophy, adult onset
- White matter disorders and cerebral calcification - childhood onset
- Hereditary neuropathy or pain disorder
- Structural basal ganglia disorders
- Lysosomal storage disorder
- Ataxia and cerebellar anomalies - childhood onset
- Tay-Sachs disease
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Hereditary ataxia
- Fetal anomalies
- Neurodegenerative disorders, adult onset
- Intellectual disability
- Early onset or syndromic epilepsy
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
9 Jan 2019, Gel status: 4
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: HEXA were changed from to GM2-gangliosidosis, several forms, 272800; Tay-Sachs disease, 272800
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: HEXA was added gene: HEXA was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal