Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Prepair 1000+

Gene: HEXA

Green List (high evidence)

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

1 review

Karina Sandoval (Victorian Clinical Genetics Services)

Green List (high evidence)

Typical onset is in infancy, can occasionally present as late onset.

Many patients have been reported with biallelic missense and minimal residual HEXA enzyme activity.

ClinGen gene-disease association Definitive - The most severe form, the acute infantile variant, is characterized by progressive weakness, loss of motor skills, decreased attentiveness, and increased startle response with onset between 3-6 months of age followed by progressive neurodegeneration including seizures, blindness, spasticity, eventual total incapacitation, and death, usually before 4 years. The juvenile (subacute), chronic, and adult-onset variants of hexosaminidase A deficiency have later onsets.
A 7.6 kb deletion is commonly found in French-Canadian patients with Tay-sachs
Created: 12 Mar 2025, 12:33 a.m. | Last Modified: 12 Mar 2025, 12:33 a.m.
Panel Version: 1.1568

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

History Filter Activity

13 Mar 2025, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: hexa has been classified as Green List (High Evidence).

13 Mar 2025, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: HEXA were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Tay-Sachs disease, 272800 (3) for gene: HEXA

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HEXA was added gene: HEXA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HEXA were set to Tay-Sachs disease, 272800 (3)