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  3. HEXB
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Hydrops fetalis

Gene: HEXB

Red List (low evidence)
HEXB (hexosaminidase subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000049860
EnsemblGeneIds (GRCh37): ENSG00000049860
OMIM: 606873, Gene2Phenotype
HEXB is in 16 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Cannot find specific reports of hydrops with this lysosomal storage disorder.
Sources: Expert list
Created: 13 Aug 2020, 8:43 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sandhoff disease, infantile, juvenile, and adult forms, MIM# 268800

Created: 13 Aug 2020, 8:43 a.m.

Panel version: 0.137

History Filter Activity

13 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

13 Aug 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HEXB was added gene: HEXB was added to Hydrops fetalis. Sources: Expert list Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HEXB were set to Sandhoff disease, infantile, juvenile, and adult forms, MIM# 268800 Review for gene: HEXB was set to RED