MAPRE2

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green MAPRE2 in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Symmetric circumferential skin creases, congenital, 2, MIM# 616734
Green MAPRE2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Symmetric circumferential skin creases, congenital, 2, MIM# 616734
Green MAPRE2 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.252	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 CSCSC2
Green MAPRE2 in Fetal anomalies Version 1.255	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert list Phenotypes Symmetric circumferential skin creases, congenital, 2, MIM#616734

4 panels