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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Spinocerebellar Degenerations (D013132)
..Starting node ..Spinocerebellar ataxia 21 (C537200)
Child Nodes:
Sister Nodes:
..Corneal cerebellar syndrome (C535472)
..Friedreich Ataxia (D005621) 6
..Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy (C564264)
..Hereditary spinal ataxia (C531684)
..Infantile onset spinocerebellar ataxia (C535523) 1
..Mousa Al din Al Nassar syndrome (C536989)
..Myoclonic Cerebellar Dyssynergia (D002527) 1
..Olivopontocerebellar Atrophies (D009849) 15
..Posterior column ataxia (C536342)
..Sensorimotor neuropathy with ataxia, autosomal dominant (C537197)
..Spinocerebellar ataxia 13 (C537195)
..Spinocerebellar ataxia 14 (C537196)
..Spinocerebellar ataxia 19 (C537198)
..Spinocerebellar ataxia 21 (C537200)
..Spinocerebellar ataxia 22 (C542540)
..Spinocerebellar ataxia 23 (C537201)
..Spinocerebellar ataxia 27 (C537204)
..Spinocerebellar ataxia 28 (C537205)
..Spinocerebellar Ataxia 29 (C537206)
..Spinocerebellar ataxia 8 (C537307)
..Spinocerebellar ataxia, autosomal recessive 1 (C537308)
..Spinocerebellar Ataxia, Autosomal Recessive 2 (C565865)
..Spinocerebellar ataxia, autosomal recessive 3 (C537309)
..Spinocerebellar ataxia, autosomal recessive 4 (C537310)
..Spinocerebellar ataxia, autosomal recessive 5 (C537311)
..Spinocerebellar ataxia, autosomal recessive 6 (C537312)
..Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy (C537313)
..Spinocerebellar ataxia, X-linked, 2 (C537314)
..Spinocerebellar ataxia, X-linked, 4 (C537316)
..Spinocerebellar Ataxias (D020754) 34
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10501

Name:

Spinocerebellar ataxia 21

Definition:

Alternative IDs:

OMIM:607454

ParentIDs:

MESH:D013132

TreeNumbers:

C10.228.140.252.700/C537200 |C10.228.854.787/C537200 |C10.574.500.825/C537200 |C16.320.400.780/C537200

Synonyms:

SCA21

Slim Mappings:

Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: C537200
MeSH: C537200
OMIM: 607454;

Genes: TMEM240;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0002071	Abnormality of extrapyramidal motor function
3	HP:0000718	Aggressive behavior
4	HP:0002304	Akinesia
5	HP:0000741	Apathy
6	HP:0001272	Cerebellar atrophy
7	HP:0100543	Cognitive impairment
8	HP:0002396	Cogwheel rigidity
9	HP:0001260	Dysarthria
10	HP:0010526	Dysgraphia
11	HP:0002066	Gait ataxia
12	HP:0001263	Global developmental delay
13	HP:0001265	Hyporeflexia
14	HP:0100710	Impulsivity
15	HP:0001249	Intellectual disability
16	HP:0002070	Limb ataxia
17	HP:0007792	Microsaccadic pursuit
18	HP:0000639	Nystagmus	HP:0040283
19	HP:0001300	Parkinsonism
20	HP:0002174	Postural tremor
21	HP:0002073	Progressive cerebellar ataxia
22	HP:0002168	Scanning speech
23	HP:0000514	Slow saccadic eye movements
24	HP:0003677	Slowly progressive

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_020680.3(SCYL1):c.937delG (p.Val313Cysfs)	57410	SCYL1	Pathogenic	864309664	RCV000203252;	N	MedGen:C1843891,OMIM:607454,ORPHA:98773	11	65298187	65298187	NM_020680.3:c.937delG	NP_065731.3:p.Val313Cysfs	NC_000011.9:g.65298187delG	OMIM Allelic Variant:607982.0001	C1843891 607454 Spinocerebellar ataxia 21
NM_020680.3(SCYL1):c.1230+1G>A	57410	SCYL1	Pathogenic	864309666	RCV000203250;	N	MedGen:C1843891,OMIM:607454,ORPHA:98773	11	65300277	65300277	NM_020680.3:c.1230+1G>A		NC_000011.9:g.65300277G>A	OMIM Allelic Variant:607982.0003	C1843891 607454 Spinocerebellar ataxia 21
NM_020680.3(SCYL1):c.1509_1510delTG (p.Ala504Profs)	57410	SCYL1	Pathogenic	864309665	RCV000203253;	N	MedGen:C1843891,OMIM:607454,ORPHA:98773	11	65303546	65303547	NM_020680.3:c.1509_1510delTG	NP_065731.3:p.Ala504Profs	NC_000011.9:g.65303546_65303547delTG	OMIM Allelic Variant:607982.0002	C1843891 607454 Spinocerebellar ataxia 21
NM_020680.3(SCYL1):c.1636C>T (p.Gln546Ter)	57410	SCYL1	Pathogenic	864309667	RCV000203251;	N	MedGen:C1843891,OMIM:607454,ORPHA:98773	11	65303790	65303790	NM_020680.3:c.1636C>T	NP_065731.3:p.Gln546Ter	NC_000011.9:g.65303790C>T	OMIM Allelic Variant:607982.0004	C1843891 607454 Spinocerebellar ataxia 21
NM_001114748.1(TMEM240):c.511C>T (p.Arg171Trp)	339453	TMEM240	Pathogenic	606231455	RCV000148348;	N	MedGen:C1843891,OMIM:607454,ORPHA:98773	1	1470750	1470750	NM_001114748.1:c.511C>T	NP_001108220.1:p.Arg171Trp	NC_000001.10:g.1470750G>A	OMIM Allelic Variant:616101.0005	C1843891 607454 Spinocerebellar ataxia 21
NM_001114748.1(TMEM240):c.509C>T (p.Pro170Leu)	339453	TMEM240	Pathogenic	606231451	RCV000148344;	N	MedGen:C1843891,OMIM:607454,ORPHA:98773	1	1470752	1470752	NM_001114748.1:c.509C>T	NP_001108220.1:p.Pro170Leu	NC_000001.10:g.1470752G>A	OMIM Allelic Variant:616101.0001	C1843891 607454 Spinocerebellar ataxia 21
NM_001114748.1(TMEM240):c.489C>G (p.Tyr163Ter)	339453	TMEM240	Pathogenic	606231452	RCV000148345;	N	MedGen:C1843891,OMIM:607454,ORPHA:98773	1	1470772	1470772	NM_001114748.1:c.489C>G	NP_001108220.1:p.Tyr163Ter	NC_000001.10:g.1470772G>C	OMIM Allelic Variant:616101.0002	C1843891 607454 Spinocerebellar ataxia 21
NM_001114748.1(TMEM240):c.346C>T (p.Arg116Cys)	339453	TMEM240	Pathogenic	606231453	RCV000148346;	N	MedGen:C1843891,OMIM:607454,ORPHA:98773	1	1470996	1470996	NM_001114748.1:c.346C>T	NP_001108220.1:p.Arg116Cys	NC_000001.10:g.1470996G>A	OMIM Allelic Variant:616101.0003	C1843891 607454 Spinocerebellar ataxia 21
NM_001114748.1(TMEM240):c.239C>T (p.Thr80Met)	339453	TMEM240	Pathogenic	606231454	RCV000148347;	N	MedGen:C1843891,OMIM:607454,ORPHA:98773	1	1471103	1471103	NM_001114748.1:c.239C>T	NP_001108220.1:p.Thr80Met	NC_000001.10:g.1471103G>A	OMIM Allelic Variant:616101.0004	C1843891 607454 Spinocerebellar ataxia 21