Congenital adrenal hypoplasia

Gene: STAR

Green List (high evidence)

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)

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: 5 Feb 2019, 1:52 p.m.

Ellen Thomas (Genomics England Curator)

Comment on list classification: Expert review: robustly associated with an overlapping phenotype.
Created: 11 Sep 2016, 8:53 a.m.

John Achermann (UCL Institute of Child Health)

Green List (high evidence)

Classic loss of function causes congenital lipoid adrenal hyperplasia (CLAH) presenting as salt losing adrenal insufficiency in early infancy in 46,XX girls or 46,XY individuals with a female appearance (due to a lack of testosterone production). The adrenal glands are typically enlarged, but not always so. Therefore CLAH can be mislabeled adrenal hypoplasia. A late onset form of the condition can be associated with milder adrenal insufficiency affecting mostly cortisol and with male typical genitalia or hypospadias. This form is sometimes known as FGD3 (familial glucocorticoid deficiency 3).
Created: 7 Dec 2015, 2:03 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Ideopathic Primary Adrenal Failure
  • Congenital Adrenal Hypoplasia
  • Lipoid adrenal hyperplasia, 201710
OMIM
600617
Clinvar variants
Variants in STAR
Penetrance
Complete
Panels with this gene

History Filter Activity

15 Jul 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: STAR were changed from Ideopathic Primary Adrenal Failure; Congenital Adrenal Hypoplasia; Lipoid adrenal hyperplasia to Ideopathic Primary Adrenal Failure; Congenital Adrenal Hypoplasia; Lipoid adrenal hyperplasia, 201710

6 Feb 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

06/02/2016: Panel revised according to expert review, further curation and discussion with Clinical Geneticists at Genomics England. Ready to promote to version 1.

11 Sep 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

11 Sep 2016, Gel status: 4

Set Phenotypes

Ellen Thomas (Genomics England Curator)

Phenotypes for STAR were set to Ideopathic Primary Adrenal Failure; Congenital Adrenal Hypoplasia; Lipoid adrenal hyperplasia

11 Sep 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for STAR was changed to BIALLELIC, autosomal or pseudoautosomal

11 Sep 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

3 Aug 2015, Gel status: 0

Added New Source

Eik Haraldsdottir (Genomics England)

STAR was added to Congenital adrenal hypoplasiapanel. Sources: Expert list