Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

BabyScreen+ newborn screening

Gene: STAR

Green List (high evidence)

STAR (steroidogenic acute regulatory protein)
EnsemblGeneIds (GRCh38): ENSG00000147465
EnsemblGeneIds (GRCh37): ENSG00000147465
OMIM: 600617, Gene2Phenotype
STAR is in 9 panels

1 review

Seb Lunke (Victorian Clinical Genetics Services)

Green List (high evidence)

Established gene-disease association.

Childhood onset, metabolic disorder

Treatment: Hydrocortisone, 9_-fludrohydrocortisone

Non-genetic confirmatory test: serum cortisol, aldosterone and adrenocorticotropic hormone (ACTH) levels
Created: 19 Dec 2022, 12:33 a.m. | Last Modified: 19 Dec 2022, 12:33 a.m.
Panel Version: 0.1508

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lipoid adrenal hyperplasia (MIM#201710)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
  • BeginNGS
Phenotypes
  • Congenital lipoid adrenal hyperplasia, MIM#201710
Tags
treatable endocrine
OMIM
600617
Clinvar variants
Variants in STAR
Penetrance
None
Panels with this gene

History Filter Activity

29 Dec 2022, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: STAR. Tag endocrine tag was added to gene: STAR.

19 Dec 2022, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: star has been classified as Green List (High Evidence).

19 Dec 2022, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: STAR were changed from Congenital lipoid adrenal hyperplasia, MIM#201710 to Congenital lipoid adrenal hyperplasia, MIM#201710

18 Sep 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: STAR was added gene: STAR was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: STAR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STAR were set to Congenital lipoid adrenal hyperplasia, MIM#201710