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  2. Holoprosencephaly - NOT chromosomal
  3. STAG2
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Holoprosencephaly - NOT chromosomal

Gene: STAG2

Green List (high 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)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 9 Mar 2022, 4:15 p.m. | Last Modified: 9 Mar 2022, 4:15 p.m.
Panel Version: 2.25
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

Created: 12 Jan 2021, 5:12 p.m.
Last Modified: 12 Jan 2021, 5:12 p.m.
Panel version: 2.25

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

Created: 7 Jun 2020, 8:01 a.m.

Panel version: 2.5

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 Green
Phenotypes
  • Holoprosencephaly 13, X-linked OMIM:301043
OMIM
300826
Clinvar variants
Variants in STAG2
Penetrance
Incomplete
Publications
Panels with this gene

History Filter Activity

9 Mar 2022, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag for-review was removed from gene: STAG2.

9 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to STAG2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

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