Developmental and epileptic encephalopathy, 47

disease

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Also known as DEE47developmental and epileptic encephalopathy 47early infantile epileptic encephalopathy caused by mutation in FGF12EIEE47epileptic encephalopathy, early infantile, 47epileptic encephalopathy, early infantile, type 47FGF12 early infantile epileptic encephalopathy

Summary

Developmental and epileptic encephalopathy, 47 (MONDO:0014949) is a disease caused by FGF12 (GenCC Definitive), with 1 cohort gene.

At a glance

Causal gene: FGF12 (GenCC Definitive)
Cohort genes: 1
ClinVar variants: 19

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	developmental and epileptic encephalopathy, 47
Mondo ID	MONDO:0014949
OMIM	617166
DOID	DOID:0080425
UMLS	C4310685
MedGen	934652
GARD	0016206
Is cancer (heuristic)	no

Also known as: DEE47 · developmental and epileptic encephalopathy 47 · early infantile epileptic encephalopathy caused by mutation in FGF12 · EIEE47 · epileptic encephalopathy, early infantile, 47 · epileptic encephalopathy, early infantile, 47; EIEE47 · epileptic encephalopathy, early infantile, type 47 · FGF12 early infantile epileptic encephalopathy

Data availability: 19 ClinVar variants · 4 GenCC gene-disease records · 1 cell line.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › inborn errors of metabolism › inborn disorder of amino acid and other organic acid metabolism › inborn disorder of amino acid metabolism › inborn disorder of amino acid transport › undetermined early-onset epileptic encephalopathy › developmental and epileptic encephalopathy, 47

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

19 retrieved; paginated sample, class counts are floors:

11 uncertain significance, 2 benign, 1 conflicting classifications of pathogenicity, 1 benign/likely benign, 1 likely pathogenic, 1 pathogenic, 1 pathogenic/likely pathogenic, 1 likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
266034	NM_004113.6(FGF12):c.155G>A (p.Arg52His)	FGF12	Pathogenic	criteria provided, multiple submitters, no conflicts
522854	NM_004113.6(FGF12):c.148G>A (p.Gly50Ser)	FGF12	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2584544	NM_004113.6(FGF12):c.341G>A (p.Gly114Glu)	FGF12	Likely pathogenic	criteria provided, single submitter
1033969	NM_004113.6(FGF12):c.88A>G (p.Thr30Ala)	FGF12	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1184353	NM_004113.6(FGF12):c.125-3181A>G	FGF12	Uncertain significance	criteria provided, single submitter
1392428	NM_004113.6(FGF12):c.125-3C>G	FGF12	Uncertain significance	criteria provided, multiple submitters, no conflicts
1679653	NM_004113.6(FGF12):c.14-47649A>G	FGF12	Uncertain significance	criteria provided, single submitter
1679725	NM_004113.6(FGF12):c.145G>C (p.Val49Leu)	FGF12	Uncertain significance	criteria provided, single submitter
1696706	NM_004113.6(FGF12):c.491G>A (p.Ser164Asn)	FGF12	Uncertain significance	criteria provided, single submitter
2441415	NM_004113.6(FGF12):c.118G>C (p.Asp40His)	FGF12	Uncertain significance	criteria provided, single submitter
2441416	NM_004113.6(FGF12):c.14-47562G>A	FGF12	Uncertain significance	criteria provided, multiple submitters, no conflicts
2441417	NM_004113.6(FGF12):c.142C>T (p.Pro48Ser)	FGF12	Uncertain significance	criteria provided, single submitter
2585506	NM_004113.6(FGF12):c.83A>T (p.Asp28Val)	FGF12	Uncertain significance	criteria provided, multiple submitters, no conflicts
3377616	NM_004113.6(FGF12):c.457G>A (p.Glu153Lys)	FGF12	Uncertain significance	criteria provided, single submitter
4532209	NM_004113.6(FGF12):c.281A>G (p.Tyr94Cys)	FGF12	Uncertain significance	criteria provided, single submitter
1206118	NM_004113.6(FGF12):c.229-7C>T	FGF12	Benign	criteria provided, multiple submitters, no conflicts
1285268	NM_004113.6(FGF12):c.125-21C>T	FGF12	Benign	criteria provided, multiple submitters, no conflicts
1548117	NM_004113.6(FGF12):c.229-8dup	FGF12	Benign/Likely benign	criteria provided, multiple submitters, no conflicts
800183	NM_004113.6(FGF12):c.14-47547G>C	FGF12	Likely benign	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 5 · Orphanet: 1 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
FGF12	Definitive	Autosomal dominant	developmental and epileptic encephalopathy, 47	5

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
FGF12	Orphanet:442835	Non-specific early-onset epileptic encephalopathy

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
FGF12	HGNC:3668	ENSG00000114279	P61328	Fibroblast growth factor 12	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
FGF12	Fibroblast growth factor 12	Involved in nervous system development and function.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Other/Unknown	1	1.8×	0.558

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
FGF12	Other/Unknown	no		Fibroblast_GF_fam, IL1/FGF

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
cardiac atrium	1
cardiac muscle of right atrium	1
right atrium auricular region	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
FGF12	204	broad	marker	right atrium auricular region, cardiac atrium, cardiac muscle of right atrium

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
FGF12	1,639

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
FGF12	P61328	2

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 1. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Phase 0 - rapid depolarisation	1	346.1×	0.003	FGF12

GO biological processes by enrichment

GO term	Cohort genes	Fold	FDR	Sample cohort genes
regulation of voltage-gated sodium channel activity	1	16852.0×	8e-04	FGF12
regulation of neuronal action potential	1	4213.0×	0.002	FGF12
regulation of sodium ion transmembrane transport	1	1053.2×	0.004	FGF12
positive regulation of sodium ion transport	1	842.6×	0.004	FGF12
cardiac muscle cell action potential involved in contraction	1	702.2×	0.004	FGF12
neuromuscular process	1	526.6×	0.004	FGF12
adult locomotory behavior	1	300.9×	0.006	FGF12
JNK cascade	1	271.8×	0.006	FGF12
neurogenesis	1	208.1×	0.007	FGF12
heart development	1	78.8×	0.016	FGF12
chemical synaptic transmission	1	77.3×	0.016	FGF12
cell-cell signaling	1	69.6×	0.017	FGF12
nervous system development	1	45.9×	0.023	FGF12
signal transduction	1	16.1×	0.062	FGF12

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
FGF12	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	FGF12

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
FGF12	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Cohort genes: FGF12