Disorders of sex development

Gene: STAR

Green List (high evidence)

STAR (steroidogenic acute regulatory protein)
EnsemblGeneIds (GRCh38): ENSG00000147465
EnsemblGeneIds (GRCh37): ENSG00000147465
OMIM: 600617, Gene2Phenotype
STAR is in 6 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.

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.

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

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

History Filter Activity

21 Dec 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 21/12/2016

13 Sep 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 May 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene STAR were set to Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN); Lipoid adrenal hyperplasia, 201710

20 May 2016, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

STAR was added to Disorders of sex developmentpanel. Source: Illumina TruGenome Clinical Sequencing Services

20 May 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

STAR was added to Disorders of sex developmentpanel. Source: Radboud University Medical Center, Nijmegen

20 May 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene STAR was set to BIALLELIC, autosomal or pseudoautosomal

11 Jan 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

STAR was added to Disorders of sex developmentpanel. Sources: UKGTN

11 Jan 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

STAR was created by ellenmcdonagh