Genes associated with “DEE1”

Diagnostic yield calculator →

70 genes found

Some sources returned errors (3)

openTargets: Error: OT search: 403

omim: Error: OMIM search: 429

omimClinSyn: Error: OMIM CS: 429

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

hover for details

Strong Candidates

1 gene

1

20

score

ClinGen: DefinitiveGTR ↑

Frequency

-

P/LP Variants

3

OT Score

-

Consider

15 genes

Score

Gene

Evidence

Freq

P/LP

OT

Description

Def

19

ARXDef

-

105

-

-

Def

19

-

5

-

-

Def

18

-

2

-

-

Def

16

-

1

-

-

Def

15

-

2

-

-

Def

15

-

1

-

-

Def

13

-

2

-

-

Def

13

-

2

-

-

Def

13

-

2

-

-

Def

13

RS1Def

-

1

-

-

Def

13

-

1

-

-

Def

13

-

185

-

-

Def

13

-

170

-

-

Mod

10

-

1

-

-

Def

9

-

1

-

-

Possible

54 genes — click to expand

Score

Gene

Evidence

Freq

P/LP

OT

Description

Lim

7

-

2

-

-

Def

7

-

1

-

-

Def

7

-

1

-

-

Def

7

GANDef

-

1

-

-

Def

7

-

1

-

-

Def

7

-

1

-

-

Def

7

-

1

-

-

Def

7

-

1

-

-

Def

7

-

1

-

-

Def

7

-

1

-

-

Def

7

-

1

-

-

6

-

1

-

-

Mod

6

-

1

-

-

Mod

6

-

1

-

-

6

-

1

-

-

4

-

1

-

-

4

-

1

-

-

4

-

1

-

-

4

-

1

-

-

4

-

1

-

-

4

-

1

-

-

4

-

1

-

-

4

-

1

-

-

4

-

1

-

-

4

-

1

-

-

4

-

1

-

-

4

-

1

-

-

4

-

1

-

-

4

-

1

-

-

4

-

1

-

-

4

-

1

-

-

4

-

1

-

-

4

-

1

-

-

4

-

1

-

-

4

-

1

-

-

4

-

1

-

-

4

-

1

-

-

4

-

1

-

-

4

-

1

-

-

4

-

1

-

-

4

-

1

-

-

4

-

1

-

-

4

-

1

-

-

4

-

1

-

-

4

-

1

-

-

4

-

1

-

-

4

-

1

-

-

4

-

1

-

-

4

-

1

-

-

4

-

1

-

-

4

-

1

-

-

4

-

1

-

-

4

-

1

-

-

4

-

1

-

-

Related phenotype searches

Intellectual disability Global developmental delay Speech/language delay Neurodegeneration Developmental regression Seizures Epileptic encephalopathy Status epilepticus

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