Repeat Disorders (Version 0.256)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 74 Entitiess
Green Green List (high evidence)	ABCD3_OPDM_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)	AFF2_FRAXE_GCC 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)	AR_SBMA_CAG 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)	ARX_EIEE1_GCN1 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)	ARX_EIEE1_GCN2 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)	ATN1_DRPLA_CAG 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)	ATXN10_SCA10_ATTCT 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)	ATXN1_SCA1_CAG 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)	ATXN2_SCA2_CAG 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)	ATXN3_SCA3_CAG 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)	ATXN7_SCA7_CAG 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)	ATXN8OS_SCA8_CTG 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)	BEAN1_SCA31_TGGAA 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)	C9orf72_FTDALS_GGGGCC 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)	CACNA1A_SCA6_CAG 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)	CNBP_DM2_CCTG 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)	COMP_MEDPSACH_GAC 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)	CSTB_EPM1_CCCCGCCCCGCG 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)	DAB1_SCA37_ATTTC 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)	DMPK_DM1_CTG 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)	EIF4A3_RCPS_complex 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)	FGF14_SCA27B_GAA 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)	FMR1_FXPOI_CGG 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)	FMR1_FXS_CGG 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)	FMR1_FXTAS_CGG 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)	FOXL2_BPES_GCN 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)	FXN_FRDA_GAA 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)	GIPC1_OPDM2_CGG 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)	GLS_GDPAG_GCA 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)	HOXA13_HFGS_GCN1 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)	HOXA13_HFGS_GCN2 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)	HOXA13_HFGS_GCN3 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)	HOXD13_SPD1_GCG 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)	HTT_HD_CAG 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)	JPH3_HDL2_CTG 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)	LRP12_OPDM1_CGG 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)	MARCH6_FAME3_TTTCA 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)	NOP56_SCA36_GGCCTG 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)	NOTCH2NLC_NIID_GGC 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)	NUTM2B-AS1_OPDM_CCG STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Oculopharyngeal myopathy with leukoencephalopathy 1 MIM#618637 Tags adult-onset
Green Green List (high evidence)	PABPN1_OPMD_GCN 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)	PHOX2B_CCHS_GCN 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)	PLIN4_MRUPAV_33-mer 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)	PPP2R2B_SCA12_CAG 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)	PRDM12_HSAN8_GCC 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)	PRNP_CJD_octapeptide 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)	RFC1_CANVAS_ANNGN 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)	RILPL1_OPDM4_CGG 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)	SAMD12_FAME1_TTTCA 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)	SOX3_PHPX_GCN 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)	STARD7_FAME2_ATTTC 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)	TAF1_XDP_CCCTCT 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
Green Green List (high evidence)	TBP_SCA17_CAG 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)	TBX1_TOF_GCN 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)	TCF4_FECD3_CTG 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)	VWA1_HMNMYO_GCGCGGAGCG 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)	XYLT1_DBQD2_GGC 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)	ZFHX3_SCA4_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)	ZIC2_HPE5_GCN 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
Amber Amber List (moderate evidence)	AFF3_FRA2A_CGG 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)	DIP2B_FRA12A_CGG 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)	DMD_DMD_GAA 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)	RAPGEF2_FAME7_TTTCA 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)	RUNX2_CCD_GCN 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)	THAP11_SCA51_CAG STR	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Phenotypes Spinocerebellar ataxia 51, MIM# 620947 Tags
Amber Amber List (moderate evidence)	ZNF713_FRA7A_CGG STR	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Autism spectrum disorder Tags paediatric-onset
Red Red List (low evidence)	C11orf80_FRA11A_CGG STR	1 review 1 red	Unknown	Sources Expert Review Red Literature Phenotypes Intellectual disability Tags paediatric-onset
Red Red List (low evidence)	CBL_FRA11B_CCG 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)	NIPA1_ALS_GCG STR	1 review 1 green	Unknown	Sources Expert Review Red Literature Phenotypes Amyotrophic lateral sclerosis Tags adult-onset
Red Red List (low evidence)	SAMD12_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)	TMEM185A_FRAXF_GCC 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)	TNRC6A_FAME6_TTTCA 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)	YEATS2_FAME4_TTTCA 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)	ZIC3_VACTERLX_GCC 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 0.256)

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