FMR1_CGG

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
No list FMR1_CGG STR in Primary ovarian insufficiency Level 3: Gonadal and sex development disorders Level 2: Endocrine disorders Version 1.71	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Expert Review Removed Expert list Phenotypes Premature ovarian failure 1, OMIM:311360 Tags STR curated_removed
No list FMR1_CGG STR in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.344	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Expert Review Removed Expert list Phenotypes Fragile X tremor/ataxia syndrome, OMIM:300623 Tags STR curated_removed
Amber FMR1_CGG STR in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.506	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Expert Review Expert Review Amber Phenotypes Fragile X syndrome, OMIM:300624 Fragile X tremor/ataxia syndrome, OMIM:300623 Tags STR
Green FMR1_CGG STR in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	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 NHS GMS Expert list Phenotypes Fragile X syndrome, OMIM:300624 Fragile X tremor/ataxia syndrome, OMIM:300623 Tags STR
Green FMR1_CGG STR in Hereditary ataxia with onset in adulthood Level 2: Neurology Version 8.23 Latest signed off version: v8.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Expert Review Green Expert list Phenotypes Fragile X tremor/ataxia syndrome, OMIM:300623 Tags STR
Green FMR1_CGG STR in Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.36 Latest signed off version: v7.0 (30 Apr 2025)	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 NHS GMS Phenotypes Fragile X syndrome, OMIM:300624 Fragile X tremor/ataxia syndrome, OMIM:300623 Tags STR