Differences in sex development
Gene: STAR

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

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 29 Apr 2019, 9:46 a.m.

Created: 29 Apr 2019, 9:46 a.m.

Panel version: 1.32

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P / DD. At least fourteen variants reported.
Created: 13 Sep 2016, 7:10 a.m.

Created: 13 Sep 2016, 7:10 a.m.

Panel version: 0.174

John Achermann (UCL Institute of Child Health)

Green List (high evidence)

Classic condition causes congenital lipoid adrenal hyperplasia. Usually presents with 46,XY severe lack of androgenization and salt losing adrenal insufficiency around 3 weeks of age. Mild changes (often p.R188C) cause primary adrenal insufficiency (glucocorticoid deficiency and looks like FGD, sometimes called FGD3) with hypospadias or normal genitalia, but may have issues with puberty or fertility.
Created: 4 Feb 2016, 2:25 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital lipoid adrenal hyperplasia; mild changes cause adrenal insufficiency

Created: 4 Feb 2016, 2:25 p.m.

Panel version: 0.40

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
UKGTN

Phenotypes

Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN)
Lipoid adrenal hyperplasia, 201710

OMIM

600617

Clinvar variants

Variants in STAR

Penetrance

Complete

Panels with this gene