FMR1_FXS

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Green FMR1_FXS_CGG STR in Mendeliome Version 2.636	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 Expert list Phenotypes Fragile X syndrome MIM#300624 Tags paediatric-onset
Green FMR1_FXS_CGG STR in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.161	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 Fragile X syndrome MIM#300624
Green FMR1_FXS_CGG STR in Repeat Disorders Version 1.15	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 Fragile X syndrome MIM#300624 Tags paediatric-onset

FMR1_FXS_CGG