Genes associated with “NEDSG”

Diagnostic yield calculator →
47 genes foundOpen Targets: neurodevelopmental disorder with spasticity and poor growth
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
UFC1 →

ubiquitin-fold modifier conjugating enzyme 1

25
score
GTR ↑

Neurodevelopmental disorder with spasticity and poor growth

Frequency
-
P/LP Variants
6
OT Score
0.70

Consider

4 genes
13NEDSG

NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH; NEDSG

10GLI3
Def

GLI family zinc finger 3

10TCOF1
Def

treacle ribosome biogenesis factor 1

10COL2A1
Def

collagen type II alpha 1 chain

Possible

28 genes — click to expand
8FGFR2
Def

fibroblast growth factor receptor 2

8FOXC1
Def

forkhead box C1

8AIFM1
Def

apoptosis inducing factor mitochondria associated 1

8LMNA
DefSF

lamin A/C

7MAP1B
Str

microtubule associated protein 1B

6PRICKLE1
Lim

prickle planar cell polarity protein 1

6ZIC3
Def

Zic family zinc finger 3

5EDNRA

endothelin receptor type A

5PSIP1

PC4 and SRSF1 interacting protein 1

5ATXN7

ataxin 7

4FGFR3
Def

fibroblast growth factor receptor 3

4IDUA
Def

alpha-L-iduronidase

4NDUFS4
Def

NADH:ubiquinone oxidoreductase subunit S4

4MKS1
Def

MKS transition zone complex subunit 1

4RPGRIP1L
Def

RPGRIP1 like

4PPT1
Def

palmitoyl-protein thioesterase 1

4CSTB
Def

cystatin B

4SH3PXD2B
Def

SH3 and PX domains 2B

4ATP2B2
Def

ATPase plasma membrane Ca2+ transporting 2

4HSPG2
Def

heparan sulfate proteoglycan 2

4KCNA1
Def

potassium voltage-gated channel subfamily A member 1

4MYO5A
Def

myosin VA

4SIX1
Def

SIX homeobox 1

4SPTBN4
Def

spectrin beta, non-erythrocytic 4

4ZMPSTE24
Def

zinc metallopeptidase STE24

4ENPP1
Def

ectonucleotide pyrophosphatase/phosphodiesterase 1

4PSAP
Def

prosaposin

4BRAF
Def

B-Raf proto-oncogene, serine/threonine kinase

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.