Differences of Sex Development
Gene: STAR

STAR (steroidogenic acute regulatory protein)
EnsemblGeneIds (GRCh38): ENSG00000147465
EnsemblGeneIds (GRCh37): ENSG00000147465
OMIM: 600617, Gene2Phenotype
STAR is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Lipoid congenital adrenal hyperplasia, the most severe disorder of steroid hormone biosynthesis, is caused by a defect in the conversion of cholesterol to pregnenolone, the first step in adrenal and gonadal steroidogenesis. All affected individuals are phenotypic females with a severe salt-losing syndrome that is fatal if not treated in early infancy. Well established gene-disease association.
Created: 23 Mar 2022, 10:39 a.m. | Last Modified: 23 Mar 2022, 10:39 a.m.

Panel Version: 0.242

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lipoid adrenal hyperplasia (MIM#201710)

Publications

Created: 23 Mar 2022, 10:39 a.m.
Last Modified: 23 Mar 2022, 10:39 a.m.
Panel version: 0.242

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Lipoid adrenal hyperplasia (MIM#201710)

OMIM

600617

Clinvar variants

Variants in STAR

Penetrance

None

Publications

Panels with this gene