Hereditary ataxia with onset in adulthood
Gene: HEXBEnsemblGeneIds (GRCh38): ENSG00000049860
EnsemblGeneIds (GRCh37): ENSG00000049860
OMIM: 606873, Gene2Phenotype
HEXB is in 14 panels
3 reviews
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
As above with 8 Gangliosidosis GM2 mutations listed in HGMD.Created: 27 Apr 2019, 7:39 p.m.
Louise Daugherty (Genomics England Curator)
Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Tracy Lester (Genetics laboratory, Oxford UK)
Multiple reports in lit. Large deletion reported as a founder mutation - CNV calling usefulCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sandhoff disease, 268800
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- London North GLH
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Hereditary ataxia v1.148
- 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 neuropathy or pain disorder
- Hereditary ataxia with onset in adulthood
- Childhood onset dystonia, chorea or related movement disorder
- Sandhoff disease
- Early onset or syndromic epilepsy
- Hereditary ataxia
- Adult onset neurodegenerative disorder
- Intellectual disability
- Fetal anomalies
- DDG2P
- Lysosomal storage disorder
- Ataxia and cerebellar anomalies - narrow panel
- Likely inborn error of metabolism
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: HEXB were changed from Sandhoff disease, infantile, juvenile, and adult forms, 268800; Sandhoff disease, 268800 to Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GMS was added to HEXB.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Sandhoff disease, 268800 for gene: HEXB
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to HEXB.
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to HEXB.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked panel against panel constituents. Ready to promote to version 1.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: HEXB were changed from to Sandhoff disease, infantile, juvenile, and adult forms, 268800
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: HEXB was added gene: HEXB was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal