Genes associated with “IBGC1”

19 genes foundOpen Targets: basal ganglia cerebrovascular disease
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
SLC20A2 →

solute carrier family 20 member 2

24
score
GTR ↑

Basal ganglia calcification, idiopathic, 1

Frequency
-
P/LP Variants
55
OT Score
0.37

Consider

3 genes
13IBGC1

BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1; IBGC1

11PDGFRB

?Ocular pterygium-digital keloid dysplasia syndrome

10HOOK3

Possible

8 genes — click to expand
7HGSNAT
Def
6CHRNA6
6CHRNB3
6RNF170
6SMIM19
6THAP1
4MYORG
4PDGFB

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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.