Holoprosencephaly

Gene: STAG2

Amber List (moderate evidence)

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

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 6 variants reported in unrelated cases, together with supporting in situ and functional evidence (PMID 31334757).
Created: 12 Jan 2021, 5:19 p.m. | Last Modified: 12 Jan 2021, 5:19 p.m.
Panel Version: 2.14
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 12 Jan 2021, 5:12 p.m. | Last Modified: 12 Jan 2021, 5:12 p.m.
Panel Version: 2.14

Publications

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
  • Expert Review Amber
Phenotypes
  • Holoprosencephaly 13, X-linked OMIM:301043
Tags
for-review
OMIM
300826
Clinvar variants
Variants in STAG2
Penetrance
Incomplete
Publications
Panels with this gene

History Filter Activity

12 Jan 2021, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag for-review tag was added to gene: STAG2.

12 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: stag2 has been classified as Amber List (Moderate Evidence).

12 Jan 2021, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: STAG2 were changed from holoprosencephaly to Holoprosencephaly 13, X-linked OMIM:301043

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