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  2. Renal Tubulopathies and related disorders
  3. HSD3B2
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Renal Tubulopathies and related disorders

Gene: HSD3B2

Green List (high evidence)
HSD3B2 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2)
EnsemblGeneIds (GRCh38): ENSG00000203859
EnsemblGeneIds (GRCh37): ENSG00000203859
OMIM: 613890, Gene2Phenotype
HSD3B2 is in 9 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Established gene-disease association.
Sources: Expert list
Created: 24 Nov 2022, 5:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM# 201810

Publications

Created: 24 Nov 2022, 5:01 a.m.

Panel version: Imported from Hypertension and Aldosterone disorders panel version 1.10

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM# 201810
OMIM
613890
Clinvar variants
Variants in HSD3B2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HSD3B2 was added gene: HSD3B2 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green Mode of inheritance for gene: HSD3B2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HSD3B2 were set to 1363812, 18252794 Phenotypes for gene: HSD3B2 were set to Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM# 201810