Newborns main panel
Gene: STAR

STAR (steroidogenic acute regulatory protein)
EnsemblGeneIds (GRCh38): ENSG00000147465
EnsemblGeneIds (GRCh37): ENSG00000147465
OMIM: 600617, Gene2Phenotype
STAR is in 5 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Sex mismatch/DSD - phenotype can include differences of sex development in one or both sexes. This could be the cause of an apparent mismatch between the genotypic sex and the phenotypic sex entered at the point of sample registration.

Additional Information: XY patients present with female external genitalia. There is also a less severe non-classic form.
Created: 26 Sep 2024, 4:17 p.m. | Last Modified: 26 Sep 2024, 4:17 p.m.

Panel Version: 0.469

Created: 26 Sep 2024, 4:17 p.m.
Last Modified: 26 Sep 2024, 4:17 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.

Panel Version: 0.137

Congenital lipoid adrenal hyperplasia - PubMed (nih.gov)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.135

Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

STAR deficiency (congenital lipoid hyperplasia)

Tags

special_consideration

OMIM

600617

Clinvar variants

Variants in STAR

Penetrance

None

Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: STAR.

7 Feb 2024, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: STAR were changed from Lipoid adrenal hyperplasia to STAR deficiency (congenital lipoid hyperplasia)

14 Sep 2023, Gel status: 3