Disorders of sex development
Gene: STAR
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.
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.
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
Promoted to V1 21/12/2016
This gene has been classified as Green List (High Evidence).
Phenotypes for gene STAR were set to Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN); Lipoid adrenal hyperplasia, 201710
STAR was added to Disorders of sex developmentpanel. Source: Illumina TruGenome Clinical Sequencing Services
STAR was added to Disorders of sex developmentpanel. Source: Radboud University Medical Center, Nijmegen
Model of inheritance for gene STAR was set to BIALLELIC, autosomal or pseudoautosomal
STAR was added to Disorders of sex developmentpanel. Sources: UKGTN
STAR was created by ellenmcdonagh