Hereditary Spastic Paraplegia(Strümpell-Lorrain disease)
An Autosomal dominant, Autosomal recessive, X-linked dominant mode(s) within the Neurodegenerative disorders category
Candidate Gene Information
An Autosomal dominant, Autosomal recessive, X-linked dominant 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 | AP5Z1/9907 | adaptor related protein complex 5 subunit zeta 1 | 7p22.1 | Chr7, NC_000007.14 (4775623..4794397) |
18775 nt | 18 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | ZFYVE26/23503 | zinc finger FYVE-type containing 26 | 14q24.1 | Chr14, NC_000014.9 (67728892..67816590, complement) |
87699 nt | 45 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | FA2H/79152 | fatty acid 2-hydroxylase | 16q23.1 | Chr16, NC_000016.10 (74712969..74774820, complement) |
61852 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | SPG11/80208 | SPG11 vesicle trafficking associated, spatacsin | 15q21.1 | Chr15, NC_000015.10 (44562696..44663662, complement) |
100967 nt | 42 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | WASHC5/9897 | WASH complex subunit 5 | 8q24.13 | Chr8, NC_000008.11 (125024260..125091792, complement) |
67533 nt | 31 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | ZFYVE27/118813 | zinc finger FYVE-type containing 27 | 10q24.2 | Chr10, NC_000010.11 (97737128..97760895) |
23768 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | REEP1/65055 | receptor accessory protein 1 | 2p11.2 | Chr2, NC_000002.12 (86213993..86338083, complement) |
124091 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 8 | 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 |
| 9 | NIPA1/123606 | NIPA magnesium transporter 1 | 15q11.2 | Chr15, NC_000015.10 (22786225..22829789) |
43565 nt | 6 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 10 | ATL1/51062 | atlastin GTPase 1 | 14q22.1 | Chr14, NC_000014.9 (50533082..50633068) |
99987 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 11 | BSCL2/26580 | BSCL2 lipid droplet biogenesis associated, seipin | 11q12.3 | Chr11, NC_000011.10 (62690262..62709537, complement) |
19276 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 12 | SPAST/6683 | spastin | 2p22.3 | Chr2, NC_000002.12 (32063556..32157637) |
94082 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 13 | 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 |
| 14 | SLC33A1/9197 | solute carrier family 33 member 1 | 3q25.31 | Chr3, NC_000003.12 (155821024..155854427, complement) |
33404 nt | 6 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 15 | 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 |
| 16 | KIF5A/3798 | kinesin family member 5A | 12q13.3 | Chr12, NC_000012.12 (57550044..57586633) |
36590 nt | 29 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 17 | SPG7/6687 | SPG7 matrix AAA peptidase subunit, paraplegin | 16q24.3 | Chr16, NC_000016.10 (89508388..89557768) |
49381 nt | 22 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 18 | PLP1/5354 | proteolipid protein 1 | Xq22.2 | ChrX, NC_000023.11 (103776506..103792619) |
16114 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 19 | HSPD1/3329 | heat shock protein family D (Hsp60) member 1 | 2q33.1 | Chr2, NC_000002.12 (197486584..197500274, complement) |
13691 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 20 | 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 |
| 21 | AP4M1/9179 | adaptor related protein complex 4 subunit mu 1 | 7q22.1 | Chr7, NC_000007.14 (100100794..100109039) |
8246 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 22 | RTN2/6253 | reticulon 2 | 19q13.32 | Chr19, NC_000019.10 (45485294..45497047, complement) |
11754 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 23 | AP4E1/23431 | adaptor related protein complex 4 subunit epsilon 1 | 15q21.2 | Chr15, NC_000015.10 (50907492..51005895) |
98404 nt | 24 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 24 | ERLIN2/11160 | ER lipid raft associated 2 | 8p11.23 | Chr8, NC_000008.11 (37736634..37758422) |
21789 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 25 | CYP2U1/113612 | cytochrome P450 family 2 subfamily U member 1 | 4q25 | Chr4, NC_000004.12 (107931549..107953461) |
21913 nt | 5 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 26 | MTRFR/91574 | mitochondrial translation release factor in rescue | 12q24.31 | Chr12, NC_000012.12 (123232914..123257960) |
25047 nt | 6 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 27 | DDHD1/80821 | DDHD domain containing 1 | 14q22.1 | Chr14, NC_000014.9 (53036755..53153323, complement) |
116569 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 28 | TECPR2/9895 | tectonin beta-propeller repeat containing 2 | 14q32.31 | Chr14, NC_000014.9 (102362941..102502477) |
139537 nt | 20 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 29 | DDHD2/23259 | DDHD domain containing 2 | 8p11.23 | Chr8, NC_000008.11 (38231585..38273647) |
42063 nt | 21 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 30 | VPS37A/137492 | VPS37A subunit of ESCRT-I | 8p22 | Chr8, NC_000008.11 (17246958..17333455) |
86498 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 31 | GBA2/57704 | glucosylceramidase beta 2 | 9p13.3 | Chr9, NC_000009.12 (35736866..35749228, complement) |
12363 nt | 18 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 32 | B4GALNT1/2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | 12q13.3 | Chr12, NC_000012.12 (57623409..57633201, complement) |
9793 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 33 | REEP2/51308 | receptor accessory protein 2 | 5q31.2 | Chr5, NC_000005.10 (138439057..138446965) |
7909 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 34 | NT5C2/22978 | 5'-nucleotidase, cytosolic II | 10q24.33 | Chr10, NC_000010.11 (103088017..103193272, complement) |
105256 nt | 29 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 35 | TFG/10342 | trafficking from ER to golgi regulator | 3q12.2 | Chr3, NC_000003.12 (100709290..100748967) |
39678 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 36 | 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 |
| 37 | ENTPD1/953 | ectonucleoside triphosphate diphosphohydrolase 1 | 10q24.1 | Chr10, NC_000010.11 (95694186..95877266) |
183081 nt | 20 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 38 | ARL6IP1/23204 | ADP ribosylation factor like GTPase 6 interacting protein 1 | 16p12.3 | Chr16, NC_000016.10 (18791667..18801549, complement) |
9883 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 39 | MAG/4099 | myelin associated glycoprotein | 19q13.12 | Chr19, NC_000019.10 (35292161..35313807) |
21647 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 40 | AP4B1/10717 | adaptor related protein complex 4 subunit beta 1 | 1p13.2 | Chr1, NC_000001.11 (113894194..113905028, complement) |
10835 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 41 | CPT1C/126129 | carnitine palmitoyltransferase 1C | 19q13.33 | Chr19, NC_000019.10 (49690662..49713731) |
23070 nt | 24 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 42 | IBA57/200205 | iron-sulfur cluster assembly factor IBA57 | 1q42.13 | Chr1, NC_000001.11 (228165804..228182257) |
16454 nt | 4 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 43 | SACS/26278 | sacsin molecular chaperone | 13q12.12 | Chr13, NC_000013.11 (23328830..23433702, complement) |
104873 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 44 | ALDH18A1/5832 | aldehyde dehydrogenase 18 family member A1 | 10q24.1 | Chr10, NC_000010.11 (95605941..95656711, complement) |
50771 nt | 18 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 45 | ERLIN1/10613 | ER lipid raft associated 1 | 10q24.31 | Chr10, NC_000010.11 (100150094..100186029, complement) |
35936 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 46 | FARS2/10667 | phenylalanyl-tRNA synthetase 2, mitochondrial | 6p25.1 | Chr6, NC_000006.12 (5249934..5771583) |
521650 nt | 21 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 47 | GAD1/2571 | glutamate decarboxylase 1 | 2q31.1 | Chr2, NC_000002.12 (170813210..170861151) |
47942 nt | 21 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 48 | KY/339855 | kyphoscoliosis peptidase | 3q22.2 | Chr3, NC_000003.12 (134599923..134651022, complement) |
51100 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 49 | DSTYK/25778 | dual serine/threonine and tyrosine protein kinase | 1q32.1 | Chr1, NC_000001.11 (205142505..205211702, complement) |
69198 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 50 | WDR48/57599 | WD repeat domain 48 | 3p22.2 | Chr3, NC_000003.12 (39052016..39096664) |
44649 nt | 22 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 51 | SETX/23064 | senataxin | 9q34.13 | Chr9, NC_000009.12 (132261356..132356744, complement) |
95389 nt | 33 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 52 | BICD2/23299 | BICD cargo adaptor 2 | 9q22.31 | Chr9, NC_000009.12 (92711363..92764833, complement) |
53471 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 53 | 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 |
| 54 | SETBP1/26040 | SET binding protein 1 | 18q12.3 | Chr18, NC_000018.10 (44680073..45068510) |
388438 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 55 | SLC16A2/6567 | solute carrier family 16 member 2 | Xq13.2 | ChrX, NC_000023.11 (74421493..74533916) |
112424 nt | 6 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 56 | PLEKHG5/57449 | pleckstrin homology and RhoGEF domain containing G5 | 1p36.31 | Chr1, NC_000001.11 (6467122..6520092, complement) |
52971 nt | 28 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 57 | PTPN23/25930 | protein tyrosine phosphatase non-receptor type 23 | 3p21.31 | Chr3, NC_000003.12 (47381021..47413435) |
32415 nt | 25 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 58 | 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 |
| 59 | POLG/5428 | DNA polymerase gamma, catalytic subunit | 15q26.1 | Chr15, NC_000015.10 (89316320..89334824, complement) |
18505 nt | 23 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 60 | SPG21/51324 | SPG21 abhydrolase domain containing, maspardin | 15q22.31 | Chr15, NC_000015.10 (64963022..64989914, complement) |
26893 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 61 | ALS2/57679 | alsin Rho guanine nucleotide exchange factor ALS2 | 2q33.1 | Chr2, NC_000002.12 (201700267..201780933, complement) |
80667 nt | 38 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 62 | L1CAM/3897 | L1 cell adhesion molecule | Xq28 | ChrX, NC_000023.11 (153861514..153886173, complement) |
24660 nt | 29 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 63 | PGAP1/80055 | post-GPI attachment to proteins inositol deacylase 1 | 2q33.1 | Chr2, NC_000002.12 (196833004..196926707, complement) |
93704 nt | 30 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 64 | TCF4/6925 | transcription factor 4 | 18q21.2 | Chr18, NC_000018.10 (55222185..55635957, complement) |
413773 nt | 32 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 65 | FGG/2266 | fibrinogen gamma chain | 4q32.1 | Chr4, NC_000004.12 (154604136..154612656, complement) |
8521 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 66 | COL3A1/1281 | collagen type III alpha 1 chain | 2q32.2 | Chr2, NC_000002.12 (188974373..189012746) |
38374 nt | 51 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 67 | USP8/9101 | ubiquitin specific peptidase 8 | 15q21.2 | Chr15, NC_000015.10 (50424405..50514421) |
90017 nt | 20 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |