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Mackenzie's Mission_Reproductive Carrier Screening

Gene: HSD3B7

Green List (high evidence)

HSD3B7 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7)
EnsemblGeneIds (GRCh38): ENSG00000099377
EnsemblGeneIds (GRCh37): ENSG00000099377
OMIM: 607764, Gene2Phenotype
HSD3B7 is in 8 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bile acid synthesis defect, congenital, 1, 607765 (3)
OMIM
607764
Clinvar variants
Variants in HSD3B7
Penetrance
None
Panels with this gene

History Filter Activity

19 Apr 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HSD3B7 was added gene: HSD3B7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: HSD3B7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HSD3B7 were set to Bile acid synthesis defect, congenital, 1, 607765 (3)