Clefting
Gene: STAG2
Comment on list classification: There are eight unrelated cases identified with cleft lip/ palate and two cases were identified with cleft soft palate or submucous cleft soft palate. Hence, this gene should be promoted to green rating at the next GMS review.Created: 21 Jun 2023, 8:41 p.m. | Last Modified: 21 Jun 2023, 8:55 p.m.
Panel Version: 4.47
PMID:33014403 - Two female patients identified with de novo variants in STAG2. One had cleft lip/ palate and other had cleft palate. In addition, five additional cases with cleft lip/ palate were also reported from literature review in this publication.
DECIPHER database - Of ten patients with sequence variants in STAG2 gene, one each was identified with cleft palate, cleft soft palate and submucous cleft soft palate (PMID:37010288).
Sources: LiteratureCreated: 21 Jun 2023, 8:39 p.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 13, X-linked, OMIM:301043; Mullegama-Klein-Martinez syndrome, OMIM:301022
Publications
Gene: stag2 has been classified as Amber List (Moderate Evidence).
Tag Q3_23_promote_green tag was added to gene: STAG2.
gene: STAG2 was added gene: STAG2 was added to Clefting. Sources: Literature 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 28296084; 29263825; 30158690; 31334757; 33014403; 37010288 Phenotypes for gene: STAG2 were set to Holoprosencephaly 13, X-linked, OMIM:301043; Mullegama-Klein-Martinez syndrome, OMIM:301022 Review for gene: STAG2 was set to GREEN