SPG31
MCID: SPS148
MIFTS: 39

Spastic Paraplegia 31, Autosomal Dominant (SPG31)

Categories: Bone diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Spastic Paraplegia 31, Autosomal Dominant

MalaCards integrated aliases for Spastic Paraplegia 31, Autosomal Dominant:

Name: Spastic Paraplegia 31, Autosomal Dominant 57 75 29 13 6 73
Spg31 57 12 59 75
Autosomal Dominant Spastic Paraplegia Type 31 12 59
Hereditary Spastic Paraplegia 31 12 15
Paraplegia, Spastic, Autosomal Dominant, Type 31 40
Autosomal Dominant Spastic Paraplegia 31 12

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant spastic paraplegia type 31
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
most patients have pure spastic paraplegia, some have complicated spastic paraplegia
bimodal age of onset
most have onset in first or second decade
a minority of patients have onset after age 30 years


HPO:

32
spastic paraplegia 31, autosomal dominant:
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 610250
Disease Ontology 12 DOID:0110782
ICD10 33 G11.4
Orphanet 59 ORPHA101011
UMLS via Orphanet 74 C1853247
ICD10 via Orphanet 34 G11.4
MedGen 42 C1853247
MeSH 44 D015419
UMLS 73 C1853247

Summaries for Spastic Paraplegia 31, Autosomal Dominant

UniProtKB/Swiss-Prot : 75 Spastic paraplegia 31, autosomal dominant: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.

MalaCards based summary : Spastic Paraplegia 31, Autosomal Dominant, also known as spg31, is related to paraplegia and hereditary spastic paraplegia. An important gene associated with Spastic Paraplegia 31, Autosomal Dominant is REEP1 (Receptor Accessory Protein 1). Affiliated tissues include skin, bone and eye, and related phenotypes are dysarthria and dysphagia

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the REEP1 gene on chromosome 2p11.

Description from OMIM: 610250

Related Diseases for Spastic Paraplegia 31, Autosomal Dominant

Diseases in the Spastic Paraplegia 3a family:

Spastic Paraplegia 3, Autosomal Dominant Spastic Paraplegia 4, Autosomal Dominant
Spastic Paraplegia 17, Autosomal Dominant Spastic Paraplegia 15, Autosomal Recessive
Spastic Paraplegia 23 Spastic Paraplegia 5a, Autosomal Recessive
Spastic Paraplegia 20, Autosomal Recessive Spastic Paraplegia 6, Autosomal Dominant
Spastic Paraplegia 9a, Autosomal Dominant Spastic Paraplegia 8, Autosomal Dominant
Spastic Paraplegia 10, Autosomal Dominant Spastic Paraplegia 11, Autosomal Recessive
Spastic Paraplegia 12, Autosomal Dominant Spastic Paraplegia 14, Autosomal Recessive
Spastic Paraplegia 13, Autosomal Dominant Spastic Paraplegia 19, Autosomal Dominant
Spastic Paraplegia 7, Autosomal Recessive Spastic Paraplegia 24, Autosomal Recessive
Spastic Paraplegia 25, Autosomal Recessive Spastic Paraplegia 27, Autosomal Recessive
Spastic Paraplegia 26, Autosomal Recessive Spastic Paraplegia 28, Autosomal Recessive
Spastic Paraplegia 29, Autosomal Dominant Spastic Paraplegia 33, Autosomal Dominant
Spastic Paraplegia 31, Autosomal Dominant Spastic Paraplegia 30, Autosomal Recessive
Spastic Paraplegia 18, Autosomal Recessive Spastic Paraplegia 32, Autosomal Recessive
Spastic Paraplegia 37, Autosomal Dominant Spastic Paraplegia 39, Autosomal Recessive
Spastic Paraplegia 35, Autosomal Recessive Spastic Paraplegia 38, Autosomal Dominant
Spastic Paraplegia 42, Autosomal Dominant Spastic Paraplegia 50, Autosomal Recessive
Spastic Paraplegia 36, Autosomal Dominant Spastic Paraplegia 45, Autosomal Recessive
Spastic Paraplegia 44, Autosomal Recessive Spastic Paraplegia 41, Autosomal Dominant
Spastic Paraplegia 48, Autosomal Recessive Spastic Paraplegia 51, Autosomal Recessive
Spastic Paraplegia 47, Autosomal Recessive Spastic Paraplegia 52, Autosomal Recessive
Spastic Paraplegia 46, Autosomal Recessive Spastic Paraplegia 53, Autosomal Recessive
Spastic Paraplegia 56, Autosomal Recessive Spastic Paraplegia 49, Autosomal Recessive
Spastic Paraplegia 54, Autosomal Recessive Spastic Paraplegia 55, Autosomal Recessive
Spastic Paraplegia 43, Autosomal Recessive Spastic Paraplegia 79, Autosomal Recessive
Spastic Paraplegia 72, Autosomal Recessive Spastic Paraplegia 57, Autosomal Recessive
Spastic Paraplegia 62, Autosomal Recessive Spastic Paraplegia 64, Autosomal Recessive
Spastic Paraplegia 61, Autosomal Recessive Spastic Paraplegia 63, Autosomal Recessive
Spastic Paraplegia 73, Autosomal Dominant Spastic Paraplegia 74, Autosomal Recessive
Spastic Paraplegia 9b, Autosomal Recessive Spastic Paraplegia 75, Autosomal Recessive
Spastic Paraplegia 76, Autosomal Recessive Spastic Paraplegia 77, Autosomal Recessive
Spastic Paraplegia 78, Autosomal Recessive Hereditary Spastic Paraplegia
Hereditary Spastic Paraplegia 51 Hereditary Spastic Paraplegia 72
Spastic Paraplegia 4 Spastic Paraplegia 8
Spastic Paraplegia 11 Spastic Paraplegia 1
Spastic Paraplegia 10 Spastic Paraplegia 12
Spastic Paraplegia 13 Spastic Paraplegia 14
Spastic Paraplegia 15 Spastic Paraplegia 16
Spastic Paraplegia 17 Spastic Paraplegia 18
Spastic Paraplegia 19 Spastic Paraplegia 24
Spastic Paraplegia 25 Spastic Paraplegia 26
Spastic Paraplegia 29 Spastic Paraplegia 3
Spastic Paraplegia 31 Spastic Paraplegia 32
Spastic Paraplegia 39 Spastic Paraplegia 51
Spastic Paraplegia 5a Spastic Paraplegia 5b
Spastic Paraplegia 6 Spastic Paraplegia 9
Spastic Paraplegia Type 49 Autosomal Recessive Spastic Paraplegia Type 60
Autosomal Recessive Spastic Paraplegia Type 59 Autosomal Recessive Spastic Paraplegia Type 68
Autosomal Recessive Spastic Paraplegia Type 69 Autosomal Recessive Spastic Paraplegia Type 70
Autosomal Recessive Spastic Paraplegia Type 71 Autosomal Recessive Spastic Paraplegia Type 66
Autosomal Recessive Spastic Paraplegia Type 67 Autosomal Dominant Spastic Paraplegia Type 9b
Autosomal Dominant Spastic Paraplegia Type 9

Diseases related to Spastic Paraplegia 31, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
# Related Disease Score Top Affiliating Genes
1 paraplegia 28.9 AP5Z1 ATL1 REEP1 RTN2 SPAST SPG11
2 hereditary spastic paraplegia 28.9 AP5Z1 ATL1 REEP1 RTN2 SPAST SPG11
3 spastic paraplegia 31 11.6
4 spastic paraplegia 32, autosomal recessive 10.1 ATL1 SPG11
5 tremor 10.1
6 spastic paraplegia 18, autosomal recessive 10.0 AP5Z1 REEP1
7 spastic paraplegia 47, autosomal recessive 9.9 AP5Z1 REEP1
8 spastic paraplegia 39, autosomal recessive 9.9 AP5Z1 REEP1
9 hereditary spastic paraplegia 51 9.9 AP5Z1 RTN2
10 spastic paraplegia 50, autosomal recessive 9.9 AP5Z1 RTN2
11 spastic paraplegia 30, autosomal recessive 9.9 AP5Z1 REEP1
12 spastic paraplegia 52, autosomal recessive 9.9 AP5Z1 RTN2
13 spastic paraplegia 44, autosomal recessive 9.9 AP5Z1 ZFYVE27
14 spastic paraplegia 28, autosomal recessive 9.9 AP5Z1 RTN2
15 spastic paraplegia 42, autosomal dominant 9.9 AP5Z1 REEP1
16 spastic paraplegia 48, autosomal recessive 9.9 AP5Z1 SPG11
17 spastic paraplegia 54, autosomal recessive 9.9 AP5Z1 RTN2
18 spastic paraplegia 56, autosomal recessive 9.8 AP5Z1 RTN2
19 spastic paraplegia 15, autosomal recessive 9.8 AP5Z1 SPG11
20 spastic paraplegia 35, autosomal recessive 9.8 AP5Z1 SPG11
21 spastic paraparesis 9.8 SPAST SPG11
22 spastic paraplegia 61, autosomal recessive 9.7 ATL1 REEP1 RTN2 SPAST
23 spastic paraplegia 13, autosomal dominant 9.7 AP5Z1 ATL1 SPAST
24 spastic paraplegia 8, autosomal dominant 9.6 AP5Z1 ATL1 REEP1 SPG11
25 spastic paraplegia 6, autosomal dominant 9.6 AP5Z1 ATL1 REEP1 SPAST
26 spastic paraplegia 2, x-linked 9.5 AP5Z1 ATL1 REEP1 RTN2 ZFYVE27
27 masa syndrome 9.4 AP5Z1 ATL1 REEP1 SPAST SPG11
28 spastic paraplegia 33, autosomal dominant 9.4 AP5Z1 REEP1 RTN2 SPAST ZFYVE27
29 spastic paraplegia 3, autosomal dominant 9.4 ATL1 REEP1 RTN2 SPAST SPG11 ZFYVE27
30 spastic paraplegia 4, autosomal dominant 9.4 ATL1 REEP1 RTN2 SPAST SPG11 ZFYVE27
31 spastic paraplegia 10, autosomal dominant 9.3 AP5Z1 ATL1 REEP1 RTN2 SPG11 ZFYVE27
32 spastic paraplegia 12, autosomal dominant 9.2 AP5Z1 ATL1 REEP1 RTN2 SPAST ZFYVE27

Graphical network of the top 20 diseases related to Spastic Paraplegia 31, Autosomal Dominant:



Diseases related to Spastic Paraplegia 31, Autosomal Dominant

Symptoms & Phenotypes for Spastic Paraplegia 31, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
hyperreflexia
lower limb spasticity
ankle clonus
spastic gait
more
Abdomen Gastrointestinal:
dysphagia (less common)

Skeletal Feet:
pes cavus (less common)

Muscle Soft Tissue:
amyotrophy
muscle wasting due to chronic denervation

Neurologic Peripheral Nervous System:
distal sensory loss

Genitourinary Bladder:
urinary urgency (less common)


Clinical features from OMIM:

610250

Human phenotypes related to Spastic Paraplegia 31, Autosomal Dominant:

59 32 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 59 32 occasional (7.5%) Occasional (29-5%) HP:0001260
2 dysphagia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002015
3 impaired proprioception 59 32 frequent (33%) Frequent (79-30%) HP:0010831
4 pes cavus 59 32 occasional (7.5%) Frequent (79-30%) HP:0001761
5 proximal lower limb amyotrophy 59 32 frequent (33%) Frequent (79-30%) HP:0008956
6 proximal muscle weakness in lower limbs 59 32 hallmark (90%) Very frequent (99-80%) HP:0008994
7 bulbar signs 59 32 occasional (7.5%) Occasional (29-5%) HP:0002483
8 difficulty walking 59 32 frequent (33%) Frequent (79-30%) HP:0002355
9 brisk reflexes 59 32 hallmark (90%) Very frequent (99-80%) HP:0001348
10 spastic gait 59 32 hallmark (90%) Very frequent (99-80%) HP:0002064
11 hyperreflexia in upper limbs 59 32 frequent (33%) Frequent (79-30%) HP:0007350
12 spastic tetraparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001285
13 difficulty running 59 32 frequent (33%) Frequent (79-30%) HP:0009046
14 hand muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0030237
15 distal sensory impairment 59 32 frequent (33%) Frequent (79-30%) HP:0002936
16 lower limb hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0002395
17 gait disturbance 59 Frequent (79-30%)
18 hypertonia 59 Frequent (79-30%)
19 skeletal muscle atrophy 32 HP:0003202
20 babinski sign 32 HP:0003487
21 spastic paraplegia 32 HP:0001258
22 lower limb muscle weakness 32 HP:0007340
23 ankle clonus 32 HP:0011448
24 urinary urgency 32 occasional (7.5%) HP:0000012

Drugs & Therapeutics for Spastic Paraplegia 31, Autosomal Dominant

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Disease Natural History and Biomarkers of SPG3A, SPG4A, and SPG31 Recruiting NCT02859428

Search NIH Clinical Center for Spastic Paraplegia 31, Autosomal Dominant

Genetic Tests for Spastic Paraplegia 31, Autosomal Dominant

Genetic tests related to Spastic Paraplegia 31, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 31, Autosomal Dominant 29 REEP1

Anatomical Context for Spastic Paraplegia 31, Autosomal Dominant

MalaCards organs/tissues related to Spastic Paraplegia 31, Autosomal Dominant:

41
Skin, Bone, Eye, Skeletal Muscle

Publications for Spastic Paraplegia 31, Autosomal Dominant

Articles related to Spastic Paraplegia 31, Autosomal Dominant:

# Title Authors Year
1
SPG31 presenting with orthostatic tremor. ( 24628902 )
2014

Variations for Spastic Paraplegia 31, Autosomal Dominant

UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 31, Autosomal Dominant:

75
# Symbol AA change Variation ID SNP ID
1 REEP1 p.Ala20Glu VAR_027351 rs121918262
2 REEP1 p.Pro19Leu VAR_067265
3 REEP1 p.Ser23Phe VAR_067266
4 REEP1 p.Trp42Arg VAR_067267
5 REEP1 p.Pro19Arg VAR_072609 rs106050349
6 REEP1 p.Leu107Pro VAR_072611

ClinVar genetic disease variations for Spastic Paraplegia 31, Autosomal Dominant:

6 (show top 50) (show all 92)
# Gene Variation Type Significance SNP ID Assembly Location
1 REEP1 NM_022912.2(REEP1): c.512delC (p.Pro171Hisfs) deletion Pathogenic/Likely pathogenic rs387906263 GRCh37 Chromosome 2, 86459831: 86459831
2 REEP1 NM_022912.2(REEP1): c.512delC (p.Pro171Hisfs) deletion Pathogenic/Likely pathogenic rs387906263 GRCh38 Chromosome 2, 86232708: 86232708
3 REEP1 NM_022912.2(REEP1): c.183-2A> G single nucleotide variant Pathogenic rs387906264 GRCh37 Chromosome 2, 86481939: 86481939
4 REEP1 NM_022912.2(REEP1): c.183-2A> G single nucleotide variant Pathogenic rs387906264 GRCh38 Chromosome 2, 86254816: 86254816
5 REEP1 NM_022912.2(REEP1): c.*43G> T single nucleotide variant Conflicting interpretations of pathogenicity rs377637314 GRCh37 Chromosome 2, 86444180: 86444180
6 REEP1 NM_022912.2(REEP1): c.*43G> T single nucleotide variant Conflicting interpretations of pathogenicity rs377637314 GRCh38 Chromosome 2, 86217057: 86217057
7 REEP1 NM_022912.2(REEP1): c.59C> A (p.Ala20Glu) single nucleotide variant Pathogenic rs121918262 GRCh37 Chromosome 2, 86509339: 86509339
8 REEP1 NM_022912.2(REEP1): c.59C> A (p.Ala20Glu) single nucleotide variant Pathogenic rs121918262 GRCh38 Chromosome 2, 86282216: 86282216
9 REEP1 NM_022912.2(REEP1): c.337C> T (p.Arg113Ter) single nucleotide variant Pathogenic rs121918263 GRCh37 Chromosome 2, 86479160: 86479160
10 REEP1 NM_022912.2(REEP1): c.337C> T (p.Arg113Ter) single nucleotide variant Pathogenic rs121918263 GRCh38 Chromosome 2, 86252037: 86252037
11 REEP1 NM_022912.2(REEP1): c.285G> A (p.Thr95=) single nucleotide variant Benign rs2276625 GRCh37 Chromosome 2, 86481835: 86481835
12 REEP1 NM_022912.2(REEP1): c.285G> A (p.Thr95=) single nucleotide variant Benign rs2276625 GRCh38 Chromosome 2, 86254712: 86254712
13 REEP1 NM_001164731.1(REEP1): c.524A> G (p.Ter175Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs587781248 GRCh38 Chromosome 2, 86217101: 86217101
14 REEP1 NM_001164731.1(REEP1): c.524A> G (p.Ter175Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs587781248 GRCh37 Chromosome 2, 86444224: 86444224
15 REEP1 NM_022912.2(REEP1): c.415A> T (p.Lys139Ter) single nucleotide variant Pathogenic rs786204081 GRCh37 Chromosome 2, 86479082: 86479082
16 REEP1 NM_022912.2(REEP1): c.415A> T (p.Lys139Ter) single nucleotide variant Pathogenic rs786204081 GRCh38 Chromosome 2, 86251959: 86251959
17 REEP1 NM_022912.2(REEP1): c.10T> G (p.Trp4Gly) single nucleotide variant Uncertain significance rs863224189 GRCh38 Chromosome 2, 86337501: 86337501
18 REEP1 NM_022912.2(REEP1): c.10T> G (p.Trp4Gly) single nucleotide variant Uncertain significance rs863224189 GRCh37 Chromosome 2, 86564624: 86564624
19 REEP1 NM_022912.2(REEP1): c.396G> A (p.Ala132=) single nucleotide variant Conflicting interpretations of pathogenicity rs377712421 GRCh38 Chromosome 2, 86251978: 86251978
20 REEP1 NM_022912.2(REEP1): c.396G> A (p.Ala132=) single nucleotide variant Conflicting interpretations of pathogenicity rs377712421 GRCh37 Chromosome 2, 86479101: 86479101
21 REEP1 NM_022912.2(REEP1): c.486C> T (p.Asp162=) single nucleotide variant Benign/Likely benign rs139806812 GRCh37 Chromosome 2, 86459857: 86459857
22 REEP1 NM_022912.2(REEP1): c.486C> T (p.Asp162=) single nucleotide variant Benign/Likely benign rs139806812 GRCh38 Chromosome 2, 86232734: 86232734
23 REEP1 NM_022912.2(REEP1): c.424G> C (p.Gly142Arg) single nucleotide variant Uncertain significance rs864622642 GRCh37 Chromosome 2, 86459919: 86459919
24 REEP1 NM_022912.2(REEP1): c.424G> C (p.Gly142Arg) single nucleotide variant Uncertain significance rs864622642 GRCh38 Chromosome 2, 86232796: 86232796
25 REEP1 NM_022912.2(REEP1): c.595+1G> A single nucleotide variant Pathogenic rs869312880 GRCh37 Chromosome 2, 86459747: 86459747
26 REEP1 NM_022912.2(REEP1): c.595+1G> A single nucleotide variant Pathogenic rs869312880 GRCh38 Chromosome 2, 86232624: 86232624
27 REEP1 NM_022912.2(REEP1): c.408T> A (p.Ala136=) single nucleotide variant Conflicting interpretations of pathogenicity rs368965566 GRCh37 Chromosome 2, 86479089: 86479089
28 REEP1 NM_022912.2(REEP1): c.408T> A (p.Ala136=) single nucleotide variant Conflicting interpretations of pathogenicity rs368965566 GRCh38 Chromosome 2, 86251966: 86251966
29 REEP1 NM_022912.2(REEP1): c.483A> G (p.Gly161=) single nucleotide variant Likely benign rs373854674 GRCh37 Chromosome 2, 86459860: 86459860
30 REEP1 NM_022912.2(REEP1): c.483A> G (p.Gly161=) single nucleotide variant Likely benign rs373854674 GRCh38 Chromosome 2, 86232737: 86232737
31 REEP1 NM_022912.2(REEP1): c.381C> T (p.Asn127=) single nucleotide variant Benign rs36008495 GRCh37 Chromosome 2, 86479116: 86479116
32 REEP1 NM_022912.2(REEP1): c.381C> T (p.Asn127=) single nucleotide variant Benign rs36008495 GRCh38 Chromosome 2, 86251993: 86251993
33 REEP1 NC_000002.12: g.(?_86213993)_(86282242_?)dup duplication Uncertain significance GRCh37 Chromosome 2, 86441116: 86509365
34 REEP1 NC_000002.12: g.(?_86213993)_(86282242_?)dup duplication Uncertain significance GRCh38 Chromosome 2, 86213993: 86282242
35 REEP1 NM_001164730.1(REEP1): c.559_574del16 (p.Gly187Leufs) deletion Likely pathogenic rs1064792986 GRCh38 Chromosome 2, 86232667: 86232682
36 REEP1 NM_001164730.1(REEP1): c.559_574del16 (p.Gly187Leufs) deletion Likely pathogenic rs1064792986 GRCh37 Chromosome 2, 86459790: 86459805
37 REEP1 NM_022912.2(REEP1): c.440G> T (p.Arg147Ile) single nucleotide variant Uncertain significance rs1060503497 GRCh38 Chromosome 2, 86232780: 86232780
38 REEP1 NM_022912.2(REEP1): c.440G> T (p.Arg147Ile) single nucleotide variant Uncertain significance rs1060503497 GRCh37 Chromosome 2, 86459903: 86459903
39 REEP1 NM_022912.2(REEP1): c.166G> A (p.Asp56Asn) single nucleotide variant Uncertain significance rs1060503493 GRCh37 Chromosome 2, 86491104: 86491104
40 REEP1 NM_022912.2(REEP1): c.166G> A (p.Asp56Asn) single nucleotide variant Uncertain significance rs1060503493 GRCh38 Chromosome 2, 86263981: 86263981
41 REEP1 NM_022912.2(REEP1): c.113G> A (p.Trp38Ter) single nucleotide variant Pathogenic rs1060503494 GRCh37 Chromosome 2, 86491157: 86491157
42 REEP1 NM_022912.2(REEP1): c.113G> A (p.Trp38Ter) single nucleotide variant Pathogenic rs1060503494 GRCh38 Chromosome 2, 86264034: 86264034
43 REEP1 NM_022912.2(REEP1): c.56C> G (p.Pro19Arg) single nucleotide variant Likely pathogenic rs1060503496 GRCh37 Chromosome 2, 86509342: 86509342
44 REEP1 NM_022912.2(REEP1): c.56C> G (p.Pro19Arg) single nucleotide variant Likely pathogenic rs1060503496 GRCh38 Chromosome 2, 86282219: 86282219
45 REEP1 NC_000002.12: g.(?_86263945)_(86264061_?)del deletion Pathogenic GRCh38 Chromosome 2, 86263945: 86264061
46 REEP1 NC_000002.12: g.(?_86263945)_(86264061_?)del deletion Pathogenic GRCh37 Chromosome 2, 86491068: 86491184
47 REEP1 NM_022912.2(REEP1): c.518C> T (p.Pro173Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs777245164 GRCh38 Chromosome 2, 86232702: 86232702
48 REEP1 NM_022912.2(REEP1): c.518C> T (p.Pro173Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs777245164 GRCh37 Chromosome 2, 86459825: 86459825
49 REEP1 NM_022912.2(REEP1): c.194A> G (p.Tyr65Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 86254803: 86254803
50 REEP1 NM_022912.2(REEP1): c.194A> G (p.Tyr65Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 86481926: 86481926

Expression for Spastic Paraplegia 31, Autosomal Dominant

Search GEO for disease gene expression data for Spastic Paraplegia 31, Autosomal Dominant.

Pathways for Spastic Paraplegia 31, Autosomal Dominant

GO Terms for Spastic Paraplegia 31, Autosomal Dominant

Cellular components related to Spastic Paraplegia 31, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.55 ATL1 REEP1 RTN2 SPAST ZFYVE27
2 axon GO:0030424 9.43 ATL1 SPG11 ZFYVE27
3 endoplasmic reticulum membrane GO:0005789 9.35 ATL1 REEP1 RTN2 SPAST ZFYVE27
4 integral component of endoplasmic reticulum membrane GO:0030176 9.32 RTN2 ZFYVE27
5 endoplasmic reticulum tubular network GO:0071782 8.8 ATL1 REEP1 ZFYVE27

Biological processes related to Spastic Paraplegia 31, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axonogenesis GO:0007409 8.62 ATL1 SPAST

Sources for Spastic Paraplegia 31, Autosomal Dominant

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