Severe microcephaly
Region: ISCA-46743-LossXq25 region (includes STAG2) Loss
The rating of this region has been updated to Amber and the mode of inheritance set to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' following NHS Genomic Medicine Service approval. Evidence: two cases (PMID: 30158690; 33758131) with intragenic STAG2 deletions but listed as sufficient evidence in ClinGen. Region encompasses STAG2 and some of XIAP. Phenotype: holoprosencephaly and/or developmental delay/ID based on LOF of STAG2 gene. Although microcephaly is reported, the severity is not clear nor is there evidence of presentation with this in isolation. Therefore, this panel seems like a less likely route to detection and so rating Amber. Affected females are reported.Created: 2 May 2024, 9:23 a.m. | Last Modified: 2 May 2024, 9:23 a.m.
Panel Version: 5.3
Publications for Region: ISCA-46743-Loss were set to
Region: ISCA-46743-Loss was added Region: ISCA-46743-Loss was added to Severe microcephaly. Sources: ClinGen,Expert Review Amber Mode of inheritance for Region: ISCA-46743-Loss was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)