Genes associated with “PNDM2”

Diagnostic yield calculator →
47 genes foundOpen Targets: diabetes mellitus, permanent neonatal 2
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
KCNJ11 →

potassium inwardly rectifying channel subfamily J member 11

29
score
ClinGen: DefinitiveGTR ↑

Diabetes mellitus, transient neonatal 3

Frequency
-
P/LP Variants
35
OT Score
0.81

Consider

2 genes
13PNDM2

DIABETES MELLITUS, PERMANENT NEONATAL, 2; PNDM2

10WDR45
Def

WD repeat domain 45

Possible

19 genes — click to expand
8GRHL3
Def

grainyhead like transcription factor 3

8EIF3F
Def

eukaryotic translation initiation factor 3 subunit F

6PRICKLE1
Lim

prickle planar cell polarity protein 1

6NFIX
Def

nuclear factor I X

6CDKN1B
Def

cyclin dependent kinase inhibitor 1B

5MAP3K1

mitogen-activated protein kinase kinase kinase 1

5RUNX2

RUNX family transcription factor 2

5CSNK1G2

casein kinase 1 gamma 2

5SLC20A2

solute carrier family 20 member 2

5YLPM1

YLP motif containing 1

5SPECC1L

sperm antigen with calponin homology and coiled-coil domains 1 like

5ATXN7

ataxin 7

5PSIP1

PC4 and SRSF1 interacting protein 1

4FGFR3
Def

fibroblast growth factor receptor 3

4COL18A1
Def

collagen type XVIII alpha 1 chain

4TRIOBP
Def

TRIO and F-actin binding protein

4BLTP1
Def

bridge-like lipid transfer protein family member 1

4BBS4
Def

Bardet-Biedl syndrome 4

4LPIN1
Def

lipin 1

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