Ataxia - paediatric
Gene: HEXA

HEXA (hexosaminidase subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000213614
EnsemblGeneIds (GRCh37): ENSG00000213614
OMIM: 606869, Gene2Phenotype
HEXA is in 19 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Many patients have been reported with biallelic missense and minimal residual HEXA enzyme activity (PMID: 31388111)
Created: 22 May 2020, 4:51 a.m. | Last Modified: 22 May 2020, 4:51 a.m.

Panel Version: 0.2861

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
[Hex A pseudodeficiency] 272800; GM2-gangliosidosis, several forms 272800; Tay-Sachs disease 272800

Publications

PMID: 31388111

Created: 22 May 2020, 4:51 a.m.
Last Modified: 22 May 2020, 4:51 a.m.
Panel version: Imported from Mendeliome panel version 0.2861

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Royal Melbourne Hospital
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

History Filter Activity

19 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: HEXA was added gene: HEXA was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HEXA were set to GM2-gangliosidosis, several forms, 272800; Tay-Sachs disease, 272800

Ataxia - paediatric Gene: HEXA