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Fetal anomalies

Gene: STAG2

Green List (high evidence)

STAG2 (stromal antigen 2)
EnsemblGeneIds (GRCh38): ENSG00000101972
EnsemblGeneIds (GRCh37): ENSG00000101972
OMIM: 300826, Gene2Phenotype
STAG2 is in 6 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 4 Apr 2019, 2:03 p.m.
New gene:disorder association added to DDG2P since PAGE download: STAG2-related developmental delay with microcephaly and congenital anomalies. DDG2P rating for STAG2-related developmental delay with microcephaly and congenital anomalies: confirmed. DDG2P MOI listed as: hemizygous. DDG2P Mode of pathogenicity listed as: loss of function.
Created: 4 Mar 2019, 2:34 p.m.

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
Phenotypes
  • STAG2-related developmental delay with microcephaly and congenital anomalies
OMIM
300826
Clinvar variants
Variants in STAG2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Mar 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: STAG2 was added gene: STAG2 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: STAG2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: STAG2 were set to 30158690; 29263825; 28296084 Phenotypes for gene: STAG2 were set to STAG2-related developmental delay with microcephaly and congenital anomalies