Repeat Disorders (Version 0.167)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 75 Entitiess
Green Green List (high evidence)	BPES STR	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Blepharophimosis, epicanthus inversus, and ptosis type 1 and 2 MIM#110100 Premature ovarian failure 3 MIM#608996 Tags paediatric-onset
Green Green List (high evidence)	CANVAS STR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575 Tags adult-onset
Green Green List (high evidence)	CCHS STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Central hypoventilation syndrome, congenital, with or without Hirschsprung disease MIM#209880 Tags paediatric-onset
Green Green List (high evidence)	CJD STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Creutzfeldt-Jakob disease MIM#123400 Gerstmann-Straussler disease MIM#137440 Tags adult-onset
Green Green List (high evidence)	DBQD2 STR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Desbuquois dysplasia 2 MIM#615777 Tags paediatric-onset
Green Green List (high evidence)	DM1 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Myotonic dystrophy 1 MIM#160900 Tags adult-onset paediatric-onset
Green Green List (high evidence)	DM2 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Myotonic dystrophy 2 MIM#602668 Tags adult-onset
Green Green List (high evidence)	DRPLA STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Dentatorubral-pallidoluysian atrophy MIM#125370 Tags adult-onset paediatric-onset
Green Green List (high evidence)	EIEE1_tract1 STR	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Developmental and epileptic encephalopathy 1 MIM#308350 Intellectual disability, X-linked 29 and others MIM#300419 Partington syndrome MIM#309510 Tags paediatric-onset
Green Green List (high evidence)	EIEE1_tract2 STR	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Developmental and epileptic encephalopathy 1 MIM#308350 Intellectual disability, X-linked 29 and others MIM#300419 Partington syndrome MIM#309510 Tags paediatric-onset
Green Green List (high evidence)	EPM1 STR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) MIM#254800 Tags paediatric-onset
Green Green List (high evidence)	FAME1 STR	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Epilepsy, familial adult myoclonic, 1 MIM#601068 Tags adult-onset
Green Green List (high evidence)	FAME2 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Epilepsy, familial adult myoclonic, 2 MIM#607876 Tags adult-onset
Green Green List (high evidence)	FAME3 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Epilepsy, familial adult myoclonic, 3 MIM#613608 Tags adult-onset
Green Green List (high evidence)	FECD3 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Corneal dystrophy, Fuchs endothelial, 3 MIM#613267 Tags adult-onset
Green Green List (high evidence)	FRAXE STR	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Intellectual developmental disorder, X-linked 109 MIM#309548 Tags paediatric-onset
Green Green List (high evidence)	FRDA STR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Friedreich ataxia MIM#229300 Tags paediatric-onset
Green Green List (high evidence)	FTDALS STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550 Tags adult-onset
Green Green List (high evidence)	FXPOI STR	1 review 1 green	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 Phenotypes Premature ovarian failure 1 MIM#311360 Tags adult-onset
Green Green List (high evidence)	FXS STR	1 review 1 green	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 Phenotypes Fragile X syndrome MIM#300624 Tags paediatric-onset
Green Green List (high evidence)	FXTAS STR	1 review 1 green	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 Phenotypes Fragile X tremor/ataxia syndrome MIM#300623 Tags adult-onset
Green Green List (high evidence)	GDPAG STR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412 Tags paediatric-onset
Green Green List (high evidence)	HD STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Huntington disease MIM#143100 Tags adult-onset
Green Green List (high evidence)	HDL2 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Huntington disease-like 2 MIM#606438 Tags adult-onset
Green Green List (high evidence)	HFGS_tract1 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Hand-foot-uterus syndrome MIM#140000 Tags paediatric-onset
Green Green List (high evidence)	HFGS_tract2 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Hand-foot-uterus syndrome MIM#140000 Tags paediatric-onset
Green Green List (high evidence)	HFGS_tract3 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Hand-foot-uterus syndrome MIM#140000 Tags paediatric-onset
Green Green List (high evidence)	HMNMYO STR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neuropathy, hereditary motor, with myopathic features MIM#619216 Tags paediatric-onset
Green Green List (high evidence)	HPE5 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Holoprosencephaly 5 MIM#609637 Tags paediatric-onset
Green Green List (high evidence)	HSAN8 STR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neuropathy, hereditary sensory and autonomic, type VIII MIM#616488 Tags paediatric-onset
Green Green List (high evidence)	MEDPSACH STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Epiphyseal dysplasia, multiple, 1 MIM#132400 Pseudoachondroplasia MIM#177170 Tags paediatric-onset
Green Green List (high evidence)	MRUPAV STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes myopathy, distal, with rimmed vacuoles MONDO:0014945 Tags adult-onset
Green Green List (high evidence)	NIID STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Neuronal intranuclear inclusion disease MIM#603472 Oculopharyngodistal myopathy 3 MIM#619473 Tremor, hereditary essential, 6 MIM#618866 Tags adult-onset
Green Green List (high evidence)	OPDM1 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Oculopharyngodistal myopathy 1 MIM#164310 Amyotrophic lateral sclerosis MONDO:0004976 Tags adult-onset
Green Green List (high evidence)	OPDM2 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Oculopharyngodistal myopathy 2 MIM#618940 Tags adult-onset
Green Green List (high evidence)	OPDM4 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Oculopharyngodistal myopathy MONDO:0025193 Tags
Green Green List (high evidence)	OPDM_ABCD3_GCC STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Oculopharyngodistal myopathy MONDO:0025193 Tags
Green Green List (high evidence)	OPMD STR	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Oculopharyngeal muscular dystrophy MIM#164300 Tags adult-onset
Green Green List (high evidence)	PHPX STR	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Intellectual disability, X-linked, with isolated growth hormone deficiency MIM#300123 Panhypopituitarism, X-linked MIM#312000 Tags paediatric-onset
Green Green List (high evidence)	RCPS STR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Robin sequence with cleft mandible and limb anomalies MIM#268305 Richieri-Costa-Pereira syndrome Tags paediatric-onset
Green Green List (high evidence)	SBMA STR	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Spinal and bulbar muscular atrophy of Kennedy MIM#313200 Tags adult-onset
Green Green List (high evidence)	SCA1 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia 1 MIM#164400 Tags adult-onset
Green Green List (high evidence)	SCA10 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia 10 MIM#603516 Tags adult-onset
Green Green List (high evidence)	SCA12 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia 12 MIM#604326 Tags adult-onset paediatric-onset
Green Green List (high evidence)	SCA17 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia 17 MIM#607136 Tags adult-onset paediatric-onset
Green Green List (high evidence)	SCA2 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia 2 MIM#183090 Tags adult-onset paediatric-onset
Green Green List (high evidence)	SCA27B STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Spinocerebellar ataxia type 27B MONDO:0012247 Spinocerebellar ataxia 50 late-onset cerebellar ataxias (LOCAs) Tags
Green Green List (high evidence)	SCA3 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Machado-Joseph disease MIM#109150 Spinocerebellar ataxia type 3 Tags adult-onset paediatric-onset
Green Green List (high evidence)	SCA31 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia 31 MIM#117210 Tags adult-onset
Green Green List (high evidence)	SCA36 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia 36 MIM#614153 Tags adult-onset
Green Green List (high evidence)	SCA37 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia 37 MIM#615945 Tags adult-onset
Green Green List (high evidence)	SCA4_ZFHX3_GGC STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes spinocerebellar ataxia type 4 MONDO:0010847 Tags
Green Green List (high evidence)	SCA6 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia 6 MIM#183086 Episodic ataxia, type 2 MIM#108500 Tags adult-onset
Green Green List (high evidence)	SCA7 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia 7 MIM#164500 Tags adult-onset
Green Green List (high evidence)	SCA8 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia 8 MIM#608768 Tags adult-onset
Green Green List (high evidence)	SPD1 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Synpolydactyly 1 MIM#186000 Tags paediatric-onset
Green Green List (high evidence)	TOF STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Tetralogy of Fallot MIM#187500 Tags paediatric-onset
Green Green List (high evidence)	XDP STR	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Dystonia-Parkinsonism, X-linked MIM#314250 Tags adult-onset founder
Amber Amber List (moderate evidence)	CANVAS_ACAGG STR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome fasciculations elevated serum creatine kinase levels denervation Tags adult-onset
Amber Amber List (moderate evidence)	CCD STR	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Cleidocranial dysplasia MIM#119600 Tags paediatric-onset
Amber Amber List (moderate evidence)	DMD STR	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 Amber Literature Phenotypes Duchenne muscular dystrophy MIM#310200 Becker muscular dystrophy MIM#300376 Tags adult-onset paediatric-onset
Amber Amber List (moderate evidence)	FAME7 STR	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Epilepsy, familial adult myoclonic, 7 MIM#618075 Tags adult-onset
Amber Amber List (moderate evidence)	FRA12A STR	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Mental retardation, FRA12A type MIM#136630 Tags paediatric-onset
Amber Amber List (moderate evidence)	FRA2A STR	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental delay Tags paediatric-onset
Amber Amber List (moderate evidence)	FRA7A STR	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Autism spectrum disorder Tags paediatric-onset
Amber Amber List (moderate evidence)	SCA_THAP11_CAG STR	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Phenotypes autosomal dominant cerebellar ataxia MONDO:0020380 Tags
Red Red List (low evidence)	FAME1_TTTGA STR	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes familial cortical myoclonic tremor with epilepsy Tags
Red Red List (low evidence)	FAME4 STR	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Epilepsy, myoclonic, familial adult, 4 MIM#615127 Tags adult-onset
Red Red List (low evidence)	FAME6 STR	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Epilepsy, familial adult myoclonic, 6 MIM#618074 Tags adult-onset
Red Red List (low evidence)	FRA11A STR	1 review 1 red	Unknown	Sources Expert Review Red Literature Phenotypes Intellectual disability Tags paediatric-onset
Red Red List (low evidence)	FRA11B STR	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Jacobsen syndrome MIM#147791 Tags paediatric-onset
Red Red List (low evidence)	FRAXF STR	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Phenotypes Intellectual disability Tags paediatric-onset
Red Red List (low evidence)	NIPA1 STR	1 review 1 green	Unknown	Sources Expert Review Red Literature Phenotypes Amyotrophic lateral sclerosis Tags adult-onset
Red Red List (low evidence)	OPML1 STR	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Oculopharyngeal myopathy with leukoencephalopathy 1 MIM#618637 Tags adult-onset
Red Red List (low evidence)	VACTERLX STR	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Phenotypes VACTERL association, X-linked MIM#314390 Tags paediatric-onset

Repeat Disorders (Version 0.167)

1 reviewer

75 Entities

75 reviewed, 58 green

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags