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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 Degenerations (D013132)
..Starting node ..Spinocerebellar ataxia 28 (C537205)
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:

10507

Name:

Spinocerebellar ataxia 28

Definition:

Alternative IDs:

OMIM:610246

ParentIDs:

MESH:D013132

TreeNumbers:

C10.228.140.252.700/C537205 |C10.228.854.787/C537205 |C10.574.500.825/C537205 |C16.320.400.780/C537205

Synonyms:

SCA28

Slim Mappings:

Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: C537205
MeSH: C537205
OMIM: 610246;

Genes: AFG3L2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003487	Babinski sign
3	HP:0001272	Cerebellar atrophy
4	HP:0001260	Dysarthria
5	HP:0000641	Dysmetric saccades
6	HP:0001332	Dystonia	HP:0040283
7	HP:0002066	Gait ataxia
8	HP:0000640	Gaze-evoked nystagmus
9	HP:0001276	Hypertonia
10	HP:0002070	Limb ataxia
11	HP:0002395	Lower limb hyperreflexia
12	HP:0000597	Ophthalmoparesis
13	HP:0001300	Parkinsonism	HP:0040283
14	HP:0000508	Ptosis
15	HP:0000514	Slow saccadic eye movements
16	HP:0003677	Slowly progressive
17	HP:0001257	Spasticity

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_006796.2(AFG3L2):c.2105G>A (p.Arg702Gln)	10939	AFG3L2	Pathogenic	151344523	RCV000005807;	N	MedGen:C1853249,OMIM:610246,ORPHA:101109	18	12337410	12337410	NM_006796.2:c.2105G>A	NP_006787.2:p.Arg702Gln	NC_000018.9:g.12337410C>T	OMIM Allelic Variant:604581.0004	C1853249 610246 Spinocerebellar ataxia 28
NM_006796.2(AFG3L2):c.2098G>A (p.Glu700Lys)	10939	AFG3L2	Pathogenic	151344522	RCV000031947;	N	MedGen:C1853249,OMIM:610246,ORPHA:101109	18	12337417	12337417	NM_006796.2:c.2098G>A	NP_006787.2:p.Glu700Lys	NC_000018.9:g.12337417C>T	-	C1853249 610246 Spinocerebellar ataxia 28
NM_006796.2(AFG3L2):c.2081C>A (p.Ala694Glu)	10939	AFG3L2	Pathogenic	151344521	RCV000005806;	N	MedGen:C1853249,OMIM:610246,ORPHA:101109	18	12337434	12337434	NM_006796.2:c.2081C>A	NP_006787.2:p.Ala694Glu	NC_000018.9:g.12337434G>T	OMIM Allelic Variant:604581.0003	C1853249 610246 Spinocerebellar ataxia 28
NM_006796.2(AFG3L2):c.2071G>A (p.Glu691Lys)	10939	AFG3L2	Pathogenic	151344520	RCV000005804;	N	MedGen:C1853249,OMIM:610246,ORPHA:101109	18	12337444	12337444	NM_006796.2:c.2071G>A	NP_006787.2:p.Glu691Lys	NC_000018.9:g.12337444C>T	OMIM Allelic Variant:604581.0001	C1853249 610246 Spinocerebellar ataxia 28
NM_006796.2(AFG3L2):c.2021_2022delCCinsTA (p.Ser674Leu)	10939	AFG3L2	Pathogenic	151344519	RCV000005805;	N	MedGen:C1853249,OMIM:610246,ORPHA:101109	18	12337493	12337494	NM_006796.2:c.2021_2022delCCinsTA	NP_006787.2:p.Ser674Leu	NC_000018.9:g.12337493_12337494delGGinsTA	OMIM Allelic Variant:604581.0002	C1853249 610246 Spinocerebellar ataxia 28
NM_006796.2(AFG3L2):c.2012G>A (p.Gly671Glu)	10939	AFG3L2	Pathogenic	151344518	RCV000031946;	N	MedGen:C1853249,OMIM:610246,ORPHA:101109	18	12337503	12337503	NM_006796.2:c.2012G>A	NP_006787.2:p.Gly671Glu	NC_000018.9:g.12337503C>T	-	C1853249 610246 Spinocerebellar ataxia 28
NM_006796.2(AFG3L2):c.2011G>A (p.Gly671Arg)	10939	AFG3L2	Pathogenic	151344517	RCV000023378;	N	MedGen:C1853249,OMIM:610246,ORPHA:101109	18	12337504	12337504	NM_006796.2:c.2011G>A	NP_006787.2:p.Gly671Arg	NC_000018.9:g.12337504C>T	OMIM Allelic Variant:604581.0008	C1853249 610246 Spinocerebellar ataxia 28
NM_006796.2(AFG3L2):c.1997T>G (p.Met666Arg)	10939	AFG3L2	Pathogenic	151344515	RCV000023377;	N	MedGen:C1853249,OMIM:610246,ORPHA:101109	18	12337518	12337518	NM_006796.2:c.1997T>G	NP_006787.2:p.Met666Arg	NC_000018.9:g.12337518A>C,NC_000018.9:g.12337518A>G	OMIM Allelic Variant:604581.0007	C1853249 610246 Spinocerebellar ataxia 28
NM_006796.2(AFG3L2):c.1997T>C (p.Met666Thr)	10939	AFG3L2	Pathogenic	151344515	RCV000031943;	N	MedGen:C1853249,OMIM:610246,ORPHA:101109	18	12337518	12337518	NM_006796.2:c.1997T>C	NP_006787.2:p.Met666Thr	NC_000018.9:g.12337518A>C,NC_000018.9:g.12337518A>G	-	C1853249 610246 Spinocerebellar ataxia 28
NM_006796.2(AFG3L2):c.1996A>G (p.Met666Val)	10939	AFG3L2	Pathogenic	151344514	RCV000023376;	N	MedGen:C1853249,OMIM:610246,ORPHA:101109	18	12337519	12337519	NM_006796.2:c.1996A>G	NP_006787.2:p.Met666Val	NC_000018.9:g.12337519T>C	OMIM Allelic Variant:604581.0006	C1853249 610246 Spinocerebellar ataxia 28
NM_006796.2(AFG3L2):c.1961C>T (p.Thr654Ile)	10939	AFG3L2	Pathogenic	151344513	RCV000031941;	N	MedGen:C1853249,OMIM:610246,ORPHA:101109	18	12340219	12340219	NM_006796.2:c.1961C>T	NP_006787.2:p.Thr654Ile	NC_000018.9:g.12340219G>A	OMIM Allelic Variant:604581.0009	C1853249 610246 Spinocerebellar ataxia 28
NM_006796.2(AFG3L2):c.1295A>C (p.Asn432Thr)	10939	AFG3L2	Pathogenic	151344512	RCV000005808;	N	MedGen:C1853249,OMIM:610246,ORPHA:101109	18	12353027	12353027	NM_006796.2:c.1295A>C	NP_006787.2:p.Asn432Thr	NC_000018.9:g.12353027T>G	OMIM Allelic Variant:604581.0005	C1853249 610246 Spinocerebellar ataxia 28