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Fetal anomalies

Gene: HEXA

Red List (low evidence)

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

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Red List (low evidence)

Associated features not reported prenatally or at birth.
Sources: Literature
Created: 28 Feb 2022, 3:42 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Tay-Sachs disease - MIM#272800

History Filter Activity

28 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hexa has been classified as Red List (Low Evidence).

28 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hexa has been classified as Red List (Low Evidence).

28 Feb 2022, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: HEXA was added gene: HEXA was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HEXA were set to Tay-Sachs disease - MIM#272800 Review for gene: HEXA was set to RED