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Fetal anomalies

Gene: STAR

Green List (high evidence)

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

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Potentially identifiable antenatally if sex mismatch with NIPS or other chromosomal result.
Created: 22 Feb 2022, 4:03 a.m. | Last Modified: 22 Feb 2022, 4:03 a.m.
Panel Version: 0.3877

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lipoid adrenal hyperplasia (MIM#201710)

Daniel Flanagan (Victorian Clinical Genetics Services)

Green List (high evidence)

Biallelic STAR variants cause lipoid adrenal hyperplasia, XY males are born with female external genitalia.

PMID: 8948562: Out of the 15 participants from this study, nine 46, XY karyotype individuals with biallelic STAR variants, had phenotypically normal female genitalia. 46,XX karyotype with biallelic STAR variants have phenotypic female genitalia.

PMID: 16968793. Three patients reported with homozygous STAR variants and lipoid adrenal hyperplasia. However, 46,XY brothers from a consanguineous family, were born after uneventful pregnancies and had normal male genitalia with descended testes.
Created: 22 Feb 2022, 3:46 a.m. | Last Modified: 22 Feb 2022, 3:46 a.m.
Panel Version: 0.3877

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lipoid adrenal hyperplasia (MIM#201710)

Publications

Belinda Chong (Victorian Clinical Genetics Services)

Red List (low evidence)

Postnatal onset

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.

Multiple individuals reported plus mouse studies (PMID 9326645)
Created: 22 Feb 2022, 3:28 a.m. | Last Modified: 22 Feb 2022, 3:28 a.m.
Panel Version: 0.3869

Phenotypes
Lipoid adrenal hyperplasia MIM#201710

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Lipoid adrenal hyperplasia (MIM#201710)
OMIM
600617
Clinvar variants
Variants in STAR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: star has been classified as Green List (High Evidence).

22 Feb 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: STAR were changed from CHOLESTEROL DESMOLASE-DEFICIENT CONGENITAL ADRENAL HYPERPLASIA to Lipoid adrenal hyperplasia (MIM#201710)

22 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: STAR were set to

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: STAR was added gene: STAR was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: STAR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STAR were set to CHOLESTEROL DESMOLASE-DEFICIENT CONGENITAL ADRENAL HYPERPLASIA