FMR1

fragile X mental retardation 1
OMIM: 309550, ClinGen, DECIPHER

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
No list FMR1 in Early-onset Parkinson disease Level 2: Neurology and neurodevelopmental disorders Version 2.44 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions Tremors_Superpanel	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 Removed Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Fragile X tremor/ataxia syndrome MIM#300623 Tags STR
Green FMR1 in Autism Level 2: Neurology and neurodevelopmental disorders Version 0.233	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags STR
Red FMR1 in Hydrocephalus_Ventriculomegaly Level 2: Neurology and neurodevelopmental disorders Version 0.132	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 Red Victorian Clinical Genetics Services Phenotypes Fragile X syndrome, MIM# 300624 Tags STR
Green FMR1 in Mendeliome Version 1.3795	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 Victorian Clinical Genetics Services Phenotypes Fragile X syndrome MONDO:0010383 Tags STR
Green FMR1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.497	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes fragile X syndrome MONDO:0010383 Tags STR
Green FMR1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.111	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Fragile X syndrome
No list FMR1 in Primary Ovarian Insufficiency_Premature Ovarian Failure Level 3: Gonadal and sex development disorders Level 2: Endocrine disorders Version 0.391	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 Removed Royal Melbourne Hospital Phenotypes Fragile X tremor ataxia syndrome, 300623 Fragile X syndrome, 300624 Premature ovarian failure 1, 311360 Tags STR
Green FMR1 in Prepair 1000+ Level 2: Screening Version 2.15	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Fragile X syndrome, MIM #300624
Green FMR1 in Prepair 500+ Level 2: Screening Version 2.0	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Mackenzie's Mission Phenotypes Fragile X syndrome, MIM #300624
Green FMR1_FXTAS_CGG STR in Early-onset Parkinson disease Level 2: Neurology and neurodevelopmental disorders Version 2.44 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions Tremors_Superpanel	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 Literature Phenotypes Fragile X tremor/ataxia syndrome MIM#300623
Green FMR1_FXS_CGG STR in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.497	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_FXTAS_CGG STR in Ataxia Level 2: Neurology and neurodevelopmental disorders Version 1.158 Component of the following Super Panels: Neuromuscular Superpanel Progressive Neurological Conditions	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Expert Review Green Expert list Phenotypes Fragile X tremor/ataxia syndrome MIM#300623 Tags STR
Green FMR1_FXPOI_CGG STR in Primary Ovarian Insufficiency_Premature Ovarian Failure Level 3: Gonadal and sex development disorders Level 2: Endocrine disorders Version 0.391	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 Premature ovarian failure 1 MIM#311360 Tags 5'UTR
Green FMR1_FXPOI_CGG STR in Repeat Disorders Version 0.269	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 Premature ovarian failure 1 MIM#311360 Tags adult-onset
Green FMR1_FXTAS_CGG STR in Repeat Disorders Version 0.269	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 tremor/ataxia syndrome MIM#300623 Tags adult-onset
Green FMR1_FXS_CGG STR in Repeat Disorders Version 0.269	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