Holoprosencephaly

Gene: STAG2

No list

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

1 review

Shane Mckee (Belfast HSC Trust)

Green List (high evidence)

Loss of function mutations in females leading to holoprosencephaly and linked midline brain disorders as per Kruszka et al
Sources: Other
Created: 7 Jun 2020, 8:01 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
holoprosencephaly

Publications

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
  • holoprosencephaly
OMIM
300826
Clinvar variants
Variants in STAG2
Penetrance
Incomplete
Publications
Panels with this gene

History Filter Activity

7 Jun 2020, Gel status: 0

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

Shane Mckee (Belfast HSC Trust)

gene: STAG2 was added gene: STAG2 was added to Holoprosencephaly. Sources: Other 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 PMID: 31334757 Phenotypes for gene: STAG2 were set to holoprosencephaly Penetrance for gene: STAG2 were set to Incomplete Review for gene: STAG2 was set to GREEN