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  3. HEXA
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Lysosomal Storage Disorder

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 9 Apr 2021, 11:03 p.m. | Last Modified: 9 Apr 2021, 11:03 p.m.
Panel Version: 0.123

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
GM2-gangliosidosis, several forms, MIM# 272800; Tay-Sachs disease, MIM# 272800; MONDO:0010100

Created: 9 Apr 2021, 11:03 p.m.
Last Modified: 9 Apr 2021, 11:03 p.m.
Panel version: 0.123

History Filter Activity

9 Apr 2021, 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).

9 Apr 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HEXA were changed from to GM2-gangliosidosis, several forms, MIM# 272800; Tay-Sachs disease, MIM# 272800; MONDO:0010100

9 Apr 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: HEXA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HEXA was added gene: HEXA was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HEXA was set to Unknown