Genes associated with “PDMCS”

Diagnostic yield calculator →
48 genes foundOpen Targets: benign neoplasm
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:
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Strong Candidates

6 genes
1
MAX →

MYC associated transcriptional regulator X

29
score
ClinGen: DefinitiveACMG SFGTR ↑

Multiple endocrine neoplasia, type V

Frequency
-
P/LP Variants
5
OT Score
0.82
2
NF1 →

neurofibromin 1

24
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
-
OT Score
0.78
3
RET →

ret proto-oncogene

21
score
ClinGen: DefinitiveACMG SFGTR ↑
Frequency
-
P/LP Variants
-
OT Score
0.81
4
FGFR1 →

fibroblast growth factor receptor 1

21
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
-
OT Score
0.78
5
NSDHL →

NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL

20
score
ClinGen: ModerateGTR ↑
Frequency
-
P/LP Variants
-
OT Score
0.81
6
MEN1 →

menin 1

20
score
ClinGen: DefinitiveACMG SFGTR ↑
Frequency
-
P/LP Variants
-
OT Score
0.73

Consider

42 genes
20MSH2
DefSF

mutS homolog 2

20PIK3CA
Ref

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

19CTNNB1
Def

catenin beta 1

19BRAF
Def

B-Raf proto-oncogene, serine/threonine kinase

18APC
DefSF

APC regulator of Wnt signaling pathway

18NOTCH3
Def

notch receptor 3

17MFN2
Def

mitofusin 2

17FLT4
Def

fms related receptor tyrosine kinase 4

17TERT
Def

telomerase reverse transcriptase

17KDR
Def

kinase insert domain receptor

17TP53
DefSF

tumor protein p53

17TMEM127
Def

transmembrane protein 127

17SDHB
DefSF

succinate dehydrogenase complex iron sulfur subunit B

17VHL
DefSF

von Hippel-Lindau tumor suppressor

17PDGFRB

platelet derived growth factor receptor beta

16HRAS
DefSF

HRas proto-oncogene, GTPase

16NRAS
Def

NRAS proto-oncogene, GTPase

15CYLD
Def

CYLD lysine 63 deubiquitinase

15CHEK2
Def

checkpoint kinase 2

15ATM
Def

ATM serine/threonine kinase

15KRAS
Def

KRas proto-oncogene, GTPase

15ENG
Def

endoglin

15FGFR3
Def

fibroblast growth factor receptor 3

14CDKN2A
Def

cyclin dependent kinase inhibitor 2A

14SDHD
DefSF

succinate dehydrogenase complex subunit D

14KMT2D
Def

lysine methyltransferase 2D

13KIT
Def

KIT proto-oncogene, receptor tyrosine kinase

13PDMCS

POLYDACTYLY-MACROCEPHALY SYNDROME; PDMCS

13MSH6
DefSF

mutS homolog 6

12FLCN
Def

folliculin

12MYH9
Def

myosin heavy chain 9

11PTPN14

protein tyrosine phosphatase non-receptor type 14

11FLT3
Lim

fms related receptor tyrosine kinase 3

10ESR1

estrogen receptor 1

10ERBB4
Lim

erb-b2 receptor tyrosine kinase 4

10ELMO2

engulfment and cell motility 2

10KRT4

keratin 4

10GNA11

G protein subunit alpha 11

9NEK9

NIMA related kinase 9

9TSC1
SF

TSC complex subunit 1

9TSC2
SF

TSC complex subunit 2

9NTRK3
Dis

neurotrophic receptor tyrosine kinase 3

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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.