FMR1_FXS

Panel	Reviews	Mode of inheritance	Details
Green FMR1_FXS_CGG STR in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.117	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 0.256	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

Panel

Reviews

Mode of inheritance

Details

Level 2: Neurology and neurodevelopmental disorders
Version 1.117

review

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Version 0.256

review

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

FMR1_FXS_CGG