Spinocerebellar ataxia - PS164400 - 48 Entries
Location | Phenotype | Inheritance |
Phenotype mapping key |
Phenotype MIM number |
Gene/Locus |
Gene/Locus MIM number |
---|---|---|---|---|---|---|
1p36.33 | Spinocerebellar ataxia 21 | AD | 3 | 607454 | TMEM240 | 616101 |
1p35.2 | Spinocerebellar ataxia 47 | AD | 3 | 617931 | PUM1 | 607204 |
1p32.2-p32.1 | Spinocerebellar ataxia 37 | AD | 3 | 615945 | DAB1 | 603448 |
1p13.2 | Spinocerebellar ataxia 19 | AD | 3 | 607346 | KCND3 | 605411 |
2p16.1 | Spinocerebellar ataxia 25 | AD | 3 | 608703 | PNPT1 | 610316 |
3p26.1 | Spinocerebellar ataxia 15 | AD | 3 | 606658 | ITPR1 | 147265 |
3p26.1 | Spinocerebellar ataxia 29, congenital nonprogressive | AD | 3 | 117360 | ITPR1 | 147265 |
3p14.1 | Spinocerebellar ataxia 7 | AD | 3 | 164500 | ATXN7 | 607640 |
3q25.2 | ?Spinocerebellar ataxia 43 | AD | 3 | 617018 | MME | 120520 |
4q27 | ?Spinocerebellar ataxia 41 | AD | 3 | 616410 | TRPC3 | 602345 |
4q34.3-q35.1 | ?Spinocerebellar ataxia 30 | AD | 2 | 613371 | SCA30 | 613371 |
5q32 | Spinocerebellar ataxia 12 | AD | 3 | 604326 | PPP2R2B | 604325 |
5q33.1 | Spinocerebellar ataxia 45 | AD | 3 | 617769 | FAT2 | 604269 |
6p22.3 | Spinocerebellar ataxia 1 | AD | 3 | 164400 | ATXN1 | 601556 |
6p12.1 | Spinocerebellar ataxia 38 | AD | 3 | 615957 | ELOVL5 | 611805 |
6q14.1 | Spinocerebellar ataxia 34 | AD | 3 | 133190 | ELOVL4 | 605512 |
6q24.3 | Spinocerebellar ataxia 44 | AD | 3 | 617691 | GRM1 | 604473 |
6q27 | Spinocerebellar ataxia 17 | AD | 3 | 607136 | TBP | 600075 |
7q21.2 | ?Spinocerebellar ataxia 49 | AD | 3 | 619806 | SAMD9L | 611170 |
7q22-q32 | Spinocerebellar ataxia 18 | AD | 2 | 607458 | SCA18 | 607458 |
7q32-q33 | Spinocerebellar ataxia 32 | AD | 2 | 613909 | SCA32 | 613909 |
11q12 | Spinocerebellar ataxia 20 | AD | 4 | 608687 | SCA20 | 608687 |
11q13.2 | Spinocerebellar ataxia 5 | AD | 3 | 600224 | SPTBN2 | 604985 |
12q24.12 | {Amyotrophic lateral sclerosis, susceptibility to, 13} | AD | 3 | 183090 | ATXN2 | 601517 |
12q24.12 | Spinocerebellar ataxia 2 | AD | 3 | 183090 | ATXN2 | 601517 |
13q21 | Spinocerebellar ataxia 8 | AD | 3 | 608768 | ATXN8 | 613289 |
13q21.33 | Spinocerebellar ataxia 8 | AD | 3 | 608768 | ATXN8OS | 603680 |
13q33.1 | Spinocerebellar ataxia 27B, late-onset | AD | 3 | 620174 | FGF14 | 601515 |
13q33.1 | Spinocerebellar ataxia 27A | AD | 3 | 193003 | FGF14 | 601515 |
14q32.11-q32.12 | ?Spinocerebellar ataxia 40 | AD | 3 | 616053 | CCDC88C | 611204 |
14q32.12 | Machado-Joseph disease | AD | 3 | 109150 | ATXN3 | 607047 |
15q15.2 | Spinocerebellar ataxia 11 | AD | 3 | 604432 | TTBK2 | 611695 |
16p13.3 | Spinocerebellar ataxia 48 | AD | 3 | 618093 | STUB1 | 607207 |
16q21 | Spinocerebellar ataxia 31 | AD | 3 | 117210 | BEAN1 | 612051 |
16q22.2-q22.3 | Spinocerebellar ataxia 4 | AD | 3 | 600223 | ZFHX3 | 104155 |
17q21.33 | Spinocerebellar ataxia 42 | AD | 3 | 616795 | CACNA1G | 604065 |
17q25.3 | Spinocerebellar ataxia 50 | AD | 3 | 620158 | NPTX1 | 602367 |
18p11.21 | Spinocerebellar ataxia 28 | AD | 3 | 610246 | AFG3L2 | 604581 |
19p13.3 | ?Spinocerebellar ataxia 26 | AD | 3 | 609306 | EEF2 | 130610 |
19p13.13 | Spinocerebellar ataxia 6 | AD | 3 | 183086 | CACNA1A | 601011 |
19q13.2 | ?Spinocerebellar ataxia 46 | AD | 3 | 617770 | PLD3 | 615698 |
19q13.33 | Spinocerebellar ataxia 13 | AD | 3 | 605259 | KCNC3 | 176264 |
19q13.42 | Spinocerebellar ataxia 14 | AD | 3 | 605361 | PRKCG | 176980 |
20p13 | Spinocerebellar ataxia 23 | AD | 3 | 610245 | PDYN | 131340 |
20p13 | Spinocerebellar ataxia 35 | AD | 3 | 613908 | TGM6 | 613900 |
20p13 | Spinocerebellar ataxia 36 | AD | 3 | 614153 | NOP56 | 614154 |
22q13.31 | Spinocerebellar ataxia 10 | AD | 3 | 603516 | ATXN10 | 611150 |
Not Mapped | Spinocerebellar ataxia 9 | 612876 | SCA9 | 612876 |
Phenotype Mapping Key |
---|
1 - The disorder is placed on the map due to its association with a gene, but the underlying defect is not known. |
2 - The disorder was placed on the map by statistical methods. |
3 - The molecular basis of the disorder is known. |
4 - A contiguous gene duplication or deletion syndrome in which multiple genes are involved. |
Inheritance Abbreviations | |
---|---|
?AD | ?Autosomal dominant |
?XLR | ?X-linked recessive |
AD | Autosomal dominant |
AR | Autosomal recessive |
PD | Pseudoautosomal dominant |
PR | Pseudoautosomal recessive |
DD | Digenic dominant |
DR | Digenic recessive |
ICB | Inherited chromosomal imbalance |
IC | Isolated cases |
Mi | Mitochondrial |
Mu | Multifactorial |
SMo | Somatic mosaicism |
SMu | Somatic mutation |
XL | X-linked |
XLD | X-linked dominant |
XLR | X-linked recessive |
YL | Y-linked |