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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

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

Disease Browser
Parent Node: Spinocerebellar Ataxias (D020754)
..Starting node ..Spinocerebellar Ataxia, Autosomal Recessive 8 (C565188)
Child Nodes:
Sister Nodes:
..Anemia, sideroblastic spinocerebellar ataxia (C536358)
..Ataxia Telangiectasia (D001260) 6
..Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism (C565850)
..Gemignani syndrome (C537678)
..Machado-Joseph Disease (D017827) 1
..MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
..Spastic Ataxia (C564815)
..Spastic ataxia Charlevoix-Saguenay type (C536787)
..Spinocerebellar Ataxia 10 (C566874)
..Spinocerebellar Ataxia 11 (C565772)
..Spinocerebellar Ataxia 12 (C565790)
..Spinocerebellar Ataxia 15 (C564685)
..Spinocerebellar Ataxia 17 (C564616)
..Spinocerebellar ataxia 20 (C537199)
..Spinocerebellar ataxia 25 (C537202)
..Spinocerebellar ataxia 26 (C537203)
..Spinocerebellar ataxia 30 (C575214)
..Spinocerebellar Ataxia 31 (C566146)
..Spinocerebellar Ataxia And Plaque-Like Deposits (C566671)
..Spinocerebellar Ataxia with Dysmorphism (C564802)
..Spinocerebellar Ataxia with Epilepsy (C564395)
..Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy (C566669)
..Spinocerebellar Ataxia, Autosomal Recessive 7 (C563753)
..Spinocerebellar Ataxia, Autosomal Recessive 8 (C565188)
..Spinocerebellar Ataxia, Autosomal Recessive 9 (C567436)
..Spinocerebellar Ataxia, X-Linked 1 (C563134)
..Spinocerebellar Ataxia, X-Linked 5 (C567478)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10520

Name:

Spinocerebellar Ataxia, Autosomal Recessive 8

Definition:

Alternative IDs:

OMIM:610743

ParentIDs:

MESH:D020754

TreeNumbers:

C10.228.140.252.190.530/C565188 |C10.228.140.252.700.700/C565188 |C10.228.854.787.875/C565188 |C10.574.500.825.700/C565188 |C10.597.350.090.500.530/C565188 |C16.320.400.780.875/C565188

Synonyms:

ARCA1 |Ataxia, Recessive, of Beauce |Cerebellar Ataxia, Autosomal Recessive, Type 1 |SCAR8

Slim Mappings:

Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: C565188
MeSH: C565188
OMIM: 610743;

Genes: SYNE1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003581	Adult onset
3	HP:0001272	Cerebellar atrophy
4	HP:0001260	Dysarthria
5	HP:0001310	Dysmetria
6	HP:0002066	Gait ataxia
7	HP:0002070	Limb ataxia
8	HP:0000639	Nystagmus
9	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_033071.3(SYNE1):c.8716A>T (p.Arg2906Ter)	-1	-	Pathogenic	119103243	RCV000002417;	N	MedGen:C1853116,OMIM:610743,ORPHA:88644	6	152702455	152702455	NM_033071.3:c.8716A>T	NP_149062.1:p.Arg2906Ter	NC_000006.11:g.152702455T>A	OMIM Allelic Variant:608441.0003	C1853116 610743 Spinocerebellar ataxia, autosomal recessive 8
NM_033071.3(SYNE1):c.24865C>T (p.Gln8289Ter)	23345	SYNE1	Pathogenic	797046025	RCV000194323;	N	MedGen:C1853116,OMIM:610743,ORPHA:88644	6	152464868	152464868	NM_033071.3:c.24865C>T	NP_149062.1:p.Gln8289Ter	NC_000006.11:g.152464868G>A	-	C1853116 610743 Spinocerebellar ataxia, autosomal recessive 8
NM_033071.3(SYNE1):c.22918C>T (p.Gln7640Ter)	23345	SYNE1	Pathogenic	119103244	RCV000002419;	N	MedGen:C1853116,OMIM:610743,ORPHA:88644	6	152522973	152522973	NM_033071.3:c.22918C>T	NP_149062.1:p.Gln7640Ter	NC_000006.11:g.152522973G>A	OMIM Allelic Variant:608441.0005	C1853116 610743 Spinocerebellar ataxia, autosomal recessive 8
NM_033071.3(SYNE1):c.22156C>T (p.Gln7386Ter)	23345	SYNE1	Pathogenic	119103245	RCV000002420;	N	MedGen:C1853116,OMIM:610743,ORPHA:88644	6	152534872	152534872	NM_033071.3:c.22156C>T	NP_149062.1:p.Gln7386Ter	NC_000006.11:g.152534872G>A	OMIM Allelic Variant:608441.0006	C1853116 610743 Spinocerebellar ataxia, autosomal recessive 8
NM_033071.3(SYNE1):c.20050C>T (p.Arg6684Ter)	23345	SYNE1	Likely pathogenic	780451185	RCV000200158;	N	MedGen:C1853116,OMIM:610743,ORPHA:88644	6	152557375	152557375	NM_033071.3:c.20050C>T	NP_149062.1:p.Arg6684Ter	NC_000006.11:g.152557375G>A	-	C1853116 610743 Spinocerebellar ataxia, autosomal recessive 8
NM_033071.3(SYNE1):c.17603_17607delATTTG (p.Asp5868Alafs)	23345	SYNE1	Pathogenic	794727986	RCV000180749;	N	MedGen:C1853116,OMIM:610743,ORPHA:88644	6	152615125	152615129	NM_033071.3:c.17603_17607delATTTG	NP_149062.1:p.Asp5868Alafs	NC_000006.11:g.152615125_152615129delCAAAT	-	C1853116 610743 Spinocerebellar ataxia, autosomal recessive 8
NM_033071.3(SYNE1):c.16208C>A (p.Ser5403Ter)	23345	SYNE1	Pathogenic	797046024	RCV000193929;	N	MedGen:C1853116,OMIM:610743,ORPHA:88644	6	152639367	152639367	NM_033071.3:c.16208C>A	NP_149062.1:p.Ser5403Ter	NC_000006.11:g.152639367G>T	-	C1853116 610743 Spinocerebellar ataxia, autosomal recessive 8
NM_033071.3(SYNE1):c.15705-12A>G	23345	SYNE1	Pathogenic	606231134	RCV000002416;	N	MedGen:C1853116,OMIM:610743,ORPHA:88644	6	152643033	152643033	NM_033071.3:c.15705-12A>G		NC_000006.11:g.152643033T>C	OMIM Allelic Variant:608441.0002	C1853116 610743 Spinocerebellar ataxia, autosomal recessive 8
NM_033071.3(SYNE1):c.11696_11697delTG (p.Met3899Argfs)	23345	SYNE1	Pathogenic	606231135	RCV000002421;	N	MedGen:C1853116,OMIM:610743,ORPHA:88644	6	152668362	152668363	NM_033071.3:c.11696_11697delTG	NP_149062.1:p.Met3899Argfs	NC_000006.11:g.152668362_152668363delCA	OMIM Allelic Variant:608441.0007	C1853116 610743 Spinocerebellar ataxia, autosomal recessive 8
NM_033071.3(SYNE1):c.10789C>T (p.Arg3597Ter)	23345	SYNE1	Pathogenic	606231292	RCV000144953;	N	MedGen:C1853116,OMIM:610743,ORPHA:88644	6	152675952	152675952	NM_033071.3:c.10789C>T	NP_149062.1:p.Arg3597Ter	NC_000006.11:g.152675952G>A	OMIM Allelic Variant:608441.0015	C1853116 610743 Spinocerebellar ataxia, autosomal recessive 8
NM_033071.3(SYNE1):c.9646A>T (p.Lys3216Ter)	23345	SYNE1	Likely pathogenic	780991031	RCV000197641;	N	MedGen:C1853116,OMIM:610743,ORPHA:88644	6	152690632	152690632	NM_033071.3:c.9646A>T	NP_149062.1:p.Lys3216Ter	NC_000006.11:g.152690632T>A	-	C1853116 610743 Spinocerebellar ataxia, autosomal recessive 8
NM_033071.3(SYNE1):c.7938G>A (p.Trp2646Ter)	23345	SYNE1	Likely pathogenic	863224928	RCV000200158;	N	MedGen:C1853116,OMIM:610743,ORPHA:88644	6	152712499	152712499	NM_033071.3:c.7938G>A	NP_149062.1:p.Trp2646Ter	NC_000006.11:g.152557375G>A	-	C1853116 610743 Spinocerebellar ataxia, autosomal recessive 8
NM_033071.3(SYNE1):c.6898delG (p.Glu2300Lysfs)	23345	SYNE1	Pathogenic	797046026	RCV000194453;	N	MedGen:C1853116,OMIM:610743,ORPHA:88644	6	152722425	152722425	NM_033071.3:c.6898delG	NP_149062.1:p.Glu2300Lysfs	NC_000006.11:g.152722425delC	-	C1853116 610743 Spinocerebellar ataxia, autosomal recessive 8
NM_033071.3(SYNE1):c.4482+1G>T	23345	SYNE1	Likely pathogenic	863224927	RCV000197641;	N	MedGen:C1853116,OMIM:610743,ORPHA:88644	6	152754929	152754929	NM_033071.3:c.4482+1G>T		NC_000006.11:g.152690632T>A	-	C1853116 610743 Spinocerebellar ataxia, autosomal recessive 8
NM_033071.3(SYNE1):c.4393_4394delCT (p.Leu1465Valfs)	23345	SYNE1	Pathogenic	794727577	RCV000177816;	N	MedGen:C1853116,OMIM:610743,ORPHA:88644	6	152755018	152755019	NM_033071.3:c.4393_4394delCT	NP_149062.1:p.Leu1465Valfs	NC_000006.11:g.152755018_152755019delAG	-	C1853116 610743 Spinocerebellar ataxia, autosomal recessive 8
NM_182961.3(SYNE1):c.3930_3931insGG (p.His1311Glyfs)	23345	SYNE1	Likely pathogenic	797045109	RCV000190628;	N	MedGen:C1853116,OMIM:610743,ORPHA:88644	6	152763287	152763288	NM_182961.3:c.3930_3931insGG	NP_892006.3:p.His1311Glyfs	NC_000006.11:g.152763287_152763288insCC	-	C1853116 610743 Spinocerebellar ataxia, autosomal recessive 8
NM_033071.3(SYNE1):c.3417-10_3417delGTTATTTCAGAinsC	23345	SYNE1	Likely pathogenic	863224929	RCV000196238;	N	MedGen:C1853116,OMIM:610743,ORPHA:88644	6	152770776	152770786	NM_033071.3:c.3417-10_3417delGTTATTTCAGAinsC		NC_000006.11:g.152770776_152770786delTCTGAAATAACinsG	-	C1853116 610743 Spinocerebellar ataxia, autosomal recessive 8