Genes associated with “NEDHELS”

Diagnostic yield calculator →
46 genes foundOpen Targets: intellectual developmental disorder with paroxysmal dyskinesia or seizures
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
DEAF1 →

DEAF1 transcription factor

22
score
GTR ↑

Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures

Frequency
-
P/LP Variants
25
OT Score
0.55

Consider

14 genes
14DLG4
Def

discs large MAGUK scaffold protein 4

14PDE2A

phosphodiesterase 2A

13NEDHELS

NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND IMPAIRED EXPRESSIVE LANGUAGE AND WITH OR WITHOUT SEIZURES; NEDHELS

12SCN8A
Def

sodium voltage-gated channel alpha subunit 8

10CACNA1A

calcium voltage-gated channel subunit alpha1 A

10PMP22
Def

peripheral myelin protein 22

10PLP1
Def

proteolipid protein 1

10ARX
Def

aristaless related homeobox

8SPTBN4
Def

spectrin beta, non-erythrocytic 4

8ATP2B2
Def

ATPase plasma membrane Ca2+ transporting 2

8RELN
Def

reelin

8DST
Def

dystonin

8EPS8L2
Mod

EPS8 signaling adaptor L2

8GABRA1
Def

gamma-aminobutyric acid type A receptor subunit alpha1

Possible

22 genes — click to expand
7ZNF423
Mod

zinc finger protein 423

7CACNA2D2
Mod

calcium voltage-gated channel auxiliary subunit alpha2delta 2

6MECP2
Def

methyl-CpG binding protein 2

6HPRT1
Def

hypoxanthine phosphoribosyltransferase 1

5KCNN2

potassium calcium-activated channel subfamily N member 2

5GRID2

glutamate ionotropic receptor delta type subunit 2

4KCNA1
Def

potassium voltage-gated channel subfamily A member 1

4MPZ
Def

myelin protein zero

4GALC
Def

galactosylceramidase

4SPTBN2
Def

spectrin beta, non-erythrocytic 2

4ASPA
Def

aspartoacylase

4CSTB
Def

cystatin B

4PSAP
Def

prosaposin

4CACNA1G
Def

calcium voltage-gated channel subunit alpha1 G

4HCN2
Def

hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2

4HTT
Def

huntingtin

4GABRB3
Def

gamma-aminobutyric acid type A receptor subunit beta3

4MYO5A
Def

myosin VA

4VAPB
Def

VAMP associated protein B and C

4AGTPBP1
Def

ATP/GTP binding carboxypeptidase 1

4SCN1B
Def

sodium voltage-gated channel beta subunit 1

4TPP1
Def

tripeptidyl peptidase 1

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.