Ataxia and cerebellar anomalies - childhood onset
Gene: HEXB
HEXB (hexosaminidase subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000049860
EnsemblGeneIds (GRCh37): ENSG00000049860
OMIM: 606873, Gene2Phenotype
HEXB is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000049860
EnsemblGeneIds (GRCh37): ENSG00000049860
OMIM: 606873, Gene2Phenotype
HEXB is in 14 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800
- OMIM
- 606873
- Clinvar variants
- Variants in HEXB
- Penetrance
- None
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Hereditary ataxia, adult onset
- Hereditary ataxia
- DDG2P
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Lysosomal storage disorder
- Sandhoff disease
- Neurodegenerative disorders, adult onset
- Intellectual disability
- Early onset or syndromic epilepsy
- Ataxia and cerebellar anomalies - childhood onset
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
History Filter Activity
13 Dec 2021, Gel status: 3
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: HEXB were changed from Sandhoff disease, infantile, juvenile, and adult forms, 268800 to Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800
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: HEXB were changed from to Sandhoff disease, infantile, juvenile, and adult forms, 268800
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: HEXB was added gene: HEXB was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal