Genes associated with “SPDRS”

Diagnostic yield calculator →
46 genes foundOpen Targets: GM3 synthase deficiency
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
ST3GAL5 →

ST3 beta-galactoside alpha-2,3-sialyltransferase 5

29
score
ClinGen: DefinitiveGTR ↑

Salt and pepper developmental regression syndrome

Frequency
-
P/LP Variants
62
OT Score
0.80

Consider

8 genes
14ATXN2
Def

ataxin 2

13SPDRS

SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME; SPDRS

12SCN8A
Def

sodium voltage-gated channel alpha subunit 8

10PMP22
Def

peripheral myelin protein 22

10PLP1
Def

proteolipid protein 1

10ARX
Def

aristaless related homeobox

9RORB
Def

RAR related orphan receptor B

8ATP2B2
Def

ATPase plasma membrane Ca2+ transporting 2

Possible

26 genes — click to expand
8SPTBN4
Def

spectrin beta, non-erythrocytic 4

8RELN
Def

reelin

8DST
Def

dystonin

8LMX1A
Def

LIM homeobox transcription factor 1 alpha

8GABRA1
Def

gamma-aminobutyric acid type A receptor subunit alpha1

8PSAP
Def

prosaposin

6MECP2
Def

methyl-CpG binding protein 2

6CHD7
Def

chromodomain helicase DNA binding protein 7

6SOX10
Def

SRY-box transcription factor 10

6POU4F3
Def

POU class 4 homeobox 3

4KCNA1
Def

potassium voltage-gated channel subfamily A member 1

4PPT1
Def

palmitoyl-protein thioesterase 1

4ELP2
Def

elongator acetyltransferase complex subunit 2

4ASPA
Def

aspartoacylase

4CSTB
Def

cystatin B

4CDH23
Def

cadherin related 23

4SLC26A4
Def

solute carrier family 26 member 4

4SNAP25
Def

synaptosome associated protein 25

4GABRB3
Def

gamma-aminobutyric acid type A receptor subunit beta3

4GALC
Def

galactosylceramidase

4HTT
Def

huntingtin

4KCNQ1
DefSF

potassium voltage-gated channel subfamily Q member 1

4MPZ
Def

myelin protein zero

4TECTA
Def

tectorin alpha

4EGR2
Def

early growth response 2

4OTOG
Def

otogelin

Related phenotype searches

Intellectual disabilityGlobal developmental delaySpeech/language delayNeurodegenerationDevelopmental regressionSeizuresEpileptic encephalopathyStatus epilepticus

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