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STAG2

STAG2 cohesin complex component

HCNC Approved Symbol
STAG2 (HGNC:11355)
Genomic Coordinates
23:123,960,560 - 124,102,656 (Xq25)
Synonyms
SA-2, SCC3B, SA2
Disease Associations
This gene is associated with the following 2 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Holoprosencephaly 13, X-linked
301043X-linked dominant; X-linked recessive
Mullegama-Klein-Martinez syndrome
301022XL

Diagnosed Cases

3Patients

In total, 3 patients were diagnosed with a variant in the STAG2 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Global developmental delay
 2 (66.7%)
Long eyelashes
 2 (66.7%)
Eeg with focal epileptiform discharges
 1 (33.3%)
Aggressive behavior
 1 (33.3%)
Dysmorphic facies
 1 (33.3%)