Spastic Ataxia
An Autosomal dominant, Autosomal recessive mode(s) within the Neurodegenerative disorders category
Candidate Gene Information
An Autosomal dominant, Autosomal recessive mode(s) within the Neurodegenerative disorders category
Reported Pathogenic variants
| 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 | ||||||||