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Mendeliome v1.944 STAG2 Achchuthan Shanmugasundram reviewed gene: STAG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28296084, 29263825, 30158690, 31334757, 33014403, 37010288; Phenotypes: Holoprosencephaly 13, X-linked, OMIM:301043, Mullegama-Klein-Martinez syndrome, OMIM:301022; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.749 STAG2 Zornitza Stark Marked gene: STAG2 as ready
Mendeliome v0.749 STAG2 Zornitza Stark Gene: stag2 has been classified as Green List (High Evidence).
Mendeliome v0.749 STAG2 Zornitza Stark Classified gene: STAG2 as Green List (high evidence)
Mendeliome v0.749 STAG2 Zornitza Stark Gene: stag2 has been classified as Green List (High Evidence).
Mendeliome v0.748 STAG2 Zornitza Stark gene: STAG2 was added
gene: STAG2 was added to Mendeliome_VCGS. 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 30765867; 28296084; 30447054; 29263825; 30158690
Phenotypes for gene: STAG2 were set to Mullegama-Klein-Martinez syndrome, MIM#301022
Review for gene: STAG2 was set to GREEN
Added comment: 12 unrelated families reported both males and females affected.
Sources: Other