Genes associated with “SPG5A

41 genes foundOpen Targets: Autosomal recessive spastic paraplegia type 5A
How are genes scored? (0–100 composite)
-5–15
ClinGen
0–15
HPO Freq
0–15
Open Targets
0–12
Phen2Gene
0–10
ClinVar
0–8
Constraint
0–8
Dosage
0–8
OMIM CS
0–8
PanelApp
0–5
OMIM
0–5
G2P
0–4
Breadth
Tiers:Strong Candidates (≥20)Consider (≥8)Possible (≥3)
Evidence dots:
HPOClinVarPhen2GeneOpen TargetsPanelApp
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Strong Candidates

1 gene
1
CYP7B1

cytochrome P450 family 7 subfamily B member 1

29
score
ClinGen: DefinitiveGTR ↑

Bile acid synthesis defect, congenital, 3

Frequency
-
P/LP Variants
50
OT Score
0.79

Consider

3 genes
19SPTAN1
Def

Developmental and epileptic encephalopathy 5

SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A

10PMP22
Def

peripheral myelin protein 22

Possible

19 genes — click to expand
8MORC2
Def

MORC family CW-type zinc finger 2

8ATP2B2
Def

ATPase plasma membrane Ca2+ transporting 2

8TARDBP
Def

TAR DNA binding protein

8SPTBN4
Def

spectrin beta, non-erythrocytic 4

5MTM1
Def

myotubularin 1

5SPG11
Def

SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11

Spastic paraplegia 14, autosomal recessive

SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE; SPG20

MAM domain containing glycosylphosphatidylinositol anchor 2

ankyrin repeat and FYVE domain containing 1

iron responsive element binding protein 2

4AGRN
Def

agrin

4FOXE3
Def

forkhead box E3

3PLA2G6
Def

phospholipase A2 group VI

3STIM1
Def

stromal interaction molecule 1

3KCNMA1
Def

potassium calcium-activated channel subfamily M alpha 1

3LYST
Def

lysosomal trafficking regulator

Data aggregated from HPO/Monarch, ClinVar, OMIM (phenotypes + clinical synopsis), Open Targets, PanelApp, Phen2Gene, and Gene2Phenotype. Click a gene to view full details.