GenTIGS

Lists of Rare Genetic Disorders

Spastic Ataxia
An Autosomal dominant, Autosomal recessive mode(s) within the Neurodegenerative disorders category

Reported Pathogenic variants

Candidate Gene Information

S.No.	Name/GeneID	Description	Cytogentic Band	Gene Location on genomic DNA	Gene Length	Exons	Details	Gene Cross-References
1	MTPAP/55149	mitochondrial poly(A) polymerase	10p11.23	Chr10, NC_000010.11 (30309801..30349278, complement)	39478 nt	9	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
2	AFG3L2/10939	AFG3 like matrix AAA peptidase subunit 2	18p11.21	Chr18, NC_000018.10 (12328944..12377227, complement)	48284 nt	17	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
3	MARS2/92935	methionyl-tRNA synthetase 2, mitochondrial	2q33.1	Chr2, NC_000002.12 (197705369..197708395)	3027 nt	1	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
4	KIF1C/10749	kinesin family member 1C	17p13.2	Chr17, NC_000017.11 (4997950..5028401)	30452 nt	24	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
5	VAMP1/6843	vesicle associated membrane protein 1	12p13.31	Chr12, NC_000012.12 (6462237..6470677, complement)	8441 nt	5	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
6	NKX6-2/84504	NK6 homeobox 2	10q26.3	Chr10, NC_000010.11 (132783181..132786147, complement)	2967 nt	3	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
7	CHP1/11261	calcineurin like EF-hand protein 1	15q15.1	Chr15, NC_000015.10 (41231268..41281887)	50620 nt	8	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
8	COQ4/51117	coenzyme Q4	9q34.11	Chr9, NC_000009.12 (128322839..128334072)	11234 nt	8	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
9	AMPD2/271	adenosine monophosphate deaminase 2	1p13.3	Chr1, NC_000001.11 (109619837..109632055)	12219 nt	20	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
10	ATP1A2/477	ATPase Na+/K+ transporting subunit alpha 2	1q23.2	Chr1, NC_000001.11 (160115759..160143591)	27833 nt	24	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
11	DARS2/55157	aspartyl-tRNA synthetase 2, mitochondrial	1q25.1	Chr1, NC_000001.11 (173824673..173858546)	33874 nt	18	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
12	GJC2/57165	gap junction protein gamma 2	1q42.13	Chr1, NC_000001.11 (228149930..228159826)	9897 nt	2	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
13	PEX10/5192	peroxisomal biogenesis factor 10	1p36.32	Chr1, NC_000001.11 (2403974..2413827, complement)	9854 nt	8	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
14	AHDC1/27245	AT-hook DNA binding motif containing 1	1p36.11	Chr1, NC_000001.11 (27534245..27604227, complement)	69983 nt	15	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
15	PUM1/9698	pumilio RNA binding family member 1	1p35.2	Chr1, NC_000001.11 (30931506..31065717, complement)	134212 nt	22	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
16	DAB1/1600	DAB adaptor protein 1	1p32.2	Chr1, NC_000001.11 (56994778..58546726, complement)	1551949 nt	27	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
17	CACNB4/785	calcium voltage-gated channel auxiliary subunit beta 4	2q23.3	Chr2, NC_000002.12 (151832771..152099167, complement)	266397 nt	22	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
18	SCN2A/6326	sodium voltage-gated channel alpha subunit 2	2q24.3	Chr2, NC_000002.12 (165239414..165392304)	152891 nt	31	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
19	KIF1A/547	kinesin family member 1A	2q37.3	Chr2, NC_000002.12 (240713767..240821403, complement)	107637 nt	55	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
20	SYNE1/23345	spectrin repeat containing nuclear envelope protein 1	6q25.2	Chr6, NC_000006.12 (152121687..152637362, complement)	515676 nt	153	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
21	ELOVL4/6785	ELOVL fatty acid elongase 4	6q14.1	Chr6, NC_000006.12 (79914814..79947553, complement)	32740 nt	6	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
22	CYP7B1/9420	cytochrome P450 family 7 subfamily B member 1	8q12.3	Chr8, NC_000008.11 (64586575..64798737, complement)	212163 nt	10	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
23	TMEM67/91147	transmembrane protein 67	8q22.1	Chr8, NC_000008.11 (93754844..93832653)	77810 nt	35	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
24	STXBP1/6812	syntaxin binding protein 1	9q34.11	Chr9, NC_000009.12 (127611912..127696029)	84118 nt	25	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
25	SPTAN1/6709	spectrin alpha, non-erythrocytic 1	9q34.11	Chr9, NC_000009.12 (128552587..128633662)	81076 nt	60	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
26	SETX/23064	senataxin	9q34.13	Chr9, NC_000009.12 (132261356..132356744, complement)	95389 nt	33	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
27	EXOSC8/11340	exosome component 8	13q13.3	Chr13, NC_000013.11 (37000786..37009614)	8829 nt	11	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
28	SYNE2/23224	spectrin repeat containing nuclear envelope protein 2	14q23.2	Chr14, NC_000014.9 (63761596..64226449)	464854 nt	125	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
29	GALC/2581	galactosylceramidase	14q31.3	Chr14, NC_000014.9 (87933014..87993665, complement)	60652 nt	21	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
30	CCDC88C/440193	coiled-coil domain containing 88C	14q32.11	Chr14, NC_000014.9 (91271323..91417820, complement)	146498 nt	34	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
31	CLN6/54982	CLN6 transmembrane ER protein	15q23	Chr15, NC_000015.10 (68206992..68257215, complement)	50224 nt	8	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
32	TUBB3/10381	tubulin beta 3 class III	16q24.3	Chr16, NC_000016.10 (89921925..89936097)	14173 nt	5	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
33	CACNA1G/8913	calcium voltage-gated channel subunit alpha1 G	17q21.33	Chr17, NC_000017.11 (50560715..50627474)	66760 nt	38	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
34	MKS1/54903	MKS transition zone complex subunit 1	17q22	Chr17, NC_000017.11 (58205441..58219255, complement)	13815 nt	19	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
35	DNMT1/1786	DNA methyltransferase 1	19p13.2	Chr19, NC_000019.10 (10133346..10194953, complement)	61608 nt	41	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
36	C19orf12/83636	chromosome 19 open reading frame 12	19q12	Chr19, NC_000019.10 (29698886..29715789, complement)	16904 nt	7	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
37	PNPLA6/10908	patatin like phospholipase domain containing 6	19p13.2	Chr19, NC_000019.10 (7534164..7561767)	27604 nt	37	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
38	ATP2B3/492	ATPase plasma membrane Ca2+ transporting 3	Xq28	ChrX, NC_000023.11 (153517642..153582929)	65288 nt	26	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
39	FLNC/2318	filamin C	7q32.1	Chr7, NC_000007.14 (128830406..128859272)	28867 nt	48	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
40	HPDL/84842	4-hydroxyphenylpyruvate dioxygenase like	1p34.1	Chr1, NC_000001.11 (45326895..45328710)	1816 nt	1	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
Variant Information
Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative Human Phenotype Ontology NORD

Patient care services

Clinical Symptoms & Disabilities

Prevalence

Under development