Congenital adrenal hypoplasia
Gene: STARAs 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.
Comment on list classification: Expert review: robustly associated with an overlapping phenotype.Created: 11 Sep 2016, 8:53 a.m.
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
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
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.
This gene has been classified as Green List (High Evidence).
Phenotypes for STAR were set to Ideopathic Primary Adrenal Failure; Congenital Adrenal Hypoplasia; Lipoid adrenal hyperplasia
Mode of inheritance for STAR was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
STAR was added to Congenital adrenal hypoplasiapanel. Sources: Expert list