STAG2

stromal antigen 2
OMIM: 300826, ClinGen, DECIPHER

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green STAG2 in Holoprosencephaly and septo-optic dysplasia Level 2: Neurology and neurodevelopmental disorders Version 1.21	2 reviews	Other	Sources Expert Review Green Literature Phenotypes Holoprosencephaly 13, X-linked, MIM# 301043
Green STAG2 in Mendeliome Version 1.3795	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Other Phenotypes Mullegama-Klein-Martinez syndrome, MIM#301022
Green STAG2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.497	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert list Phenotypes Mullegama-Klein-Martinez syndrome, MIM#301022
Green STAG2 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.293	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert Review Phenotypes Mullegama-Klein-Martinez syndrome, MIM#301022
Green STAG2 in Fetal anomalies Version 1.481	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genomics England PanelApp Literature Expert list Phenotypes Mullegama-Klein-Martinez syndrome, MIM# 301022 Holoprosencephaly 13, X-linked, MIM# 301043
Red ISCA-46743-Gain Region in Common deletion and duplication syndromes Version 0.144	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources ClinGen Phenotypes Xq25 duplication syndrome, MIM#300979 Xq25 deletion syndrome