| Autosomal dominant spastic paraplegia type 9A |
447753 |
ALDH18A1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Autosomal dominant spastic paraplegia type 9B |
447757 |
ALDH18A1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Autosomal recessive spastic paraplegia type 9B |
447760 |
ALDH18A1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Spastic Paraplegia |
C0037772 |
ALDH18A1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
AP4B1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
AP4E1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
AP4M1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
AP4S1
|
Causal
Pathogenic evidence from ClinVar
|
27444738 |
ClinVar |
|
ATL1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
ATP13A2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
B4GALNT1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CAPN1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CYP2U1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CYP7B1
|
Causal
Pathogenic evidence from ClinVar
|
9802883, 18252231, 19439420, 19812052, 21214876, 21541746, 21623769, 23812641, 24117163, 24482476, 24519355 |
ClinVar |
|
ERLIN2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
FA2H
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
GBA2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder) |
C1849115 |
ALDH18A1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CYP7B1
|
Causal
Pathogenic evidence from ClinVar
|
18252231, 19439420, 21214876, 21452256, 21541746, 21567895, 21623769, 22384504, 23812641, 24117163, 24658845, 26714052, 27217339, 29126212, 31337596 |
ClinVar |
| SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder) |
C1832669 |
ALDH18A1
|
Causal
Pathogenic evidence from ClinVar
|
26026163, 26297558, 26320891, 29903433 |
ClinVar |
| SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE |
C4225272 |
ALDH18A1
|
Causal
Pathogenic evidence from ClinVar
|
26026163, 26297558, 29903433 |
ClinVar |
| SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE |
C3279738 |
AP4B1
|
Causal
Pathogenic evidence from ClinVar
|
21440262, 21620353, 22290197, 24700674, 24781758 |
ClinVar |
| SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE |
C3151056 |
AP4E1
|
Causal
Pathogenic evidence from ClinVar
|
20972249, 23472171 |
ClinVar |
| Spastic Paraplegia-50, Autosomal Recessive |
C2752008 |
AP4M1
|
Causal
Pathogenic evidence from ClinVar
|
19559397, 29096665 |
ClinVar |
| SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE |
C3279743 |
AP4S1
|
Causal
Pathogenic evidence from ClinVar
|
21620353, 25552650 |
ClinVar |
| Autosomal dominant spastic paraplegia type 3 |
100984 |
ATL1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Spastic paraplegia 3, autosomal dominant |
C2931355 |
ATL1
|
Causal
Pathogenic evidence from ClinVar
|
11685207, 12112092, 12499504, 12939451, 14607301, 14695538, 15184642, 15477516, 15517445, 15596607, 15742100, 16401858, 16533974, 16537571, 17321752, 17427918, 17502470, 17992088, 19459885, 19652243, 19768483, 20718791, 20816793, 20932283, 20947813, 21336785, 21368113, 22340599, 23079343, 23233086, 23483706, 23999326, 24417445, 24451228, 24473461, 24482476, 24604904, 25454648, 25637064, 25761634, 26671083, 29691679 |
ClinVar |
| Spastic Paraplegia, Hereditary |
C0037773 |
ATL1
|
Causal
Pathogenic evidence from ClinVar
|
29691679 |
ClinVar |
|
CYP2U1
|
Causal
Pathogenic evidence from ClinVar
|
23176821 |
ClinVar |
|
CYP7B1
|
Causal
Pathogenic evidence from ClinVar
|
18252231, 28832565 |
ClinVar |
|
ERLIN2
|
Causal
Pathogenic evidence from ClinVar
|
23109145, 25977983, 28832565, 29528531 |
ClinVar |
|
FA2H
|
Causal
Pathogenic evidence from ClinVar
|
27604308 |
ClinVar |
|
GBA2
|
Causal
Pathogenic evidence from ClinVar
|
28832565 |
ClinVar |
| Autosomal recessive spastic paraplegia type 78 |
513436 |
ATP13A2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Complicated hereditary spastic paraplegia |
C0393556 |
ATP13A2
|
Causal
Pathogenic evidence from ClinVar
|
27165006, 27217339, 28137957 |
ClinVar |
| SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE |
C4310662 |
ATP13A2
|
Causal
Pathogenic evidence from ClinVar
|
16964263, 21696388, 27165006, 27217339, 28137957, 29112700, 29859891 |
ClinVar |
| Autosomal recessive spastic paraplegia type 26 |
101006 |
B4GALNT1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Autosomal recessive spastic paraplegia type 76 |
488594 |
CAPN1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE |
C4310800 |
CAPN1
|
Causal
Pathogenic evidence from ClinVar
|
27153400, 28566166 |
ClinVar |
| Autosomal recessive spastic paraplegia type 56 |
320411 |
CYP2U1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE |
C3539507 |
CYP2U1
|
Causal
Pathogenic evidence from ClinVar
|
23176821, 24337409 |
ClinVar |
| Autosomal Recessive Hereditary Spastic Paraplegia |
C0751603 |
CYP7B1
|
Causal
Pathogenic evidence from ClinVar
|
18252231 |
ClinVar |
| Autosomal recessive spastic paraplegia type 5A |
100986 |
CYP7B1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Hereditary Autosomal Dominant Spastic Paraplegia |
C0751602 |
CYP7B1
|
Causal
Pathogenic evidence from ClinVar
|
18252231 |
ClinVar |
| Hereditary X-Linked Recessive Spastic Paraplegia |
C0751604 |
CYP7B1
|
Causal
Pathogenic evidence from ClinVar
|
18252231 |
ClinVar |
| Spastic paraplegia type 5A, recessive |
C2931356 |
CYP7B1
|
Causal
Pathogenic evidence from ClinVar
|
19812052 |
ClinVar |
| Autosomal recessive spastic paraplegia type 18 |
209951 |
ERLIN2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Autosomal recessive spastic paraplegia type 35 |
171629 |
FA2H
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Autosomal recessive spastic paraplegia type 46 |
320391 |
GBA2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE |
C2828721 |
GBA2
|
Causal
Pathogenic evidence from ClinVar
|
23332916, 23332917, 24252062, 26220345, 28052128, 30308956 |
ClinVar |
