Leukodystrophy - adult onset
Gene: HEXA

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Typical onset is in infancy, can occasionally present as late onset.
Created: 7 May 2020, 8:15 a.m. | Last Modified: 7 May 2020, 8:15 a.m.

Panel Version: 0.54

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Tay-Sachs disease, MIM# 272800

Created: 7 May 2020, 8:15 a.m.
Last Modified: 7 May 2020, 8:15 a.m.
Panel version: 0.54

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

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

OMIM

606869

Clinvar variants

Variants in HEXA

Penetrance

None

Panels with this gene

History Filter Activity

7 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

30 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 Leukodystrophy - adult onset_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, Tay-Sachs disease, [Hex A pseudodeficiency], 272800

Leukodystrophy - adult onset Gene: HEXA