1. Panels
  2. Intellectual_disability
  3. STARD8
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual_disability

Gene: STARD8

Red List (low evidence)
STARD8 (StAR related lipid transfer domain containing 8)
EnsemblGeneIds (GRCh38): ENSG00000130052
EnsemblGeneIds (GRCh37): ENSG00000130052
OMIM: 300689, Gene2Phenotype
STARD8 is in 1 panel

0 reviews

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
OMIM
300689
Clinvar variants
Variants in STARD8
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

8 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

STARD8 was added to Intellectual_disabilitypanel. Sources: Candidate gene (Grozeva et al, 2015)