Holoprosencephaly - NOT chromosomal
Gene: STAG2
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
Loss of function mutations in females leading to holoprosencephaly and linked midline brain disorders as per Kruszka et al
Sources: OtherCreated: 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
Tag for-review was removed from gene: STAG2.
Source Expert Review Green was added to STAG2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag for-review tag was added to gene: STAG2.
Gene: stag2 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: STAG2 were changed from holoprosencephaly to Holoprosencephaly 13, X-linked OMIM:301043
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