Episodic kinesigenic dyskinesia 3

disease

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Summary

Episodic kinesigenic dyskinesia 3 (MONDO:0859380) is a disease caused by TMEM151A (GenCC Strong), with 1 cohort gene.

At a glance

Causal gene: TMEM151A (GenCC Strong)
Cohort genes: 1
ClinVar variants: 12

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	episodic kinesigenic dyskinesia 3
Mondo ID	MONDO:0859380
OMIM	620245
DOID	DOID:0060944
UMLS	C5830280
MedGen	1840916
GARD	0026726
Is cancer (heuristic)	no

Data availability: 12 ClinVar variants · 2 GenCC gene-disease records.

Disease family

Classification path: disease by body system or component › nervous system disorder › movement disorder › extrapyramidal and movement disease › dystonic disorder › inherited dystonia › combined dystonia › paroxysmal dystonia › paroxysmal dyskinesia › episodic kinesigenic dyskinesia › episodic kinesigenic dyskinesia 3

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

12 retrieved; paginated sample, class counts are floors:

9 pathogenic, 2 uncertain significance, 1 likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
2443872	NM_153266.4(TMEM151A):c.1275dup (p.Pro426fs)	TMEM151A	Pathogenic	no assertion criteria provided
2443873	NM_153266.4(TMEM151A):c.758T>C (p.Leu253Pro)	TMEM151A	Pathogenic	no assertion criteria provided
2443874	NM_153266.4(TMEM151A):c.375C>A (p.Cys125Ter)	TMEM151A	Pathogenic	no assertion criteria provided
2443875	NM_153266.4(TMEM151A):c.1043G>A (p.Trp348Ter)	TMEM151A	Pathogenic	no assertion criteria provided
2443876	NM_153266.4(TMEM151A):c.897_912del (p.Leu300fs)	TMEM151A	Pathogenic	no assertion criteria provided
2443877	NM_153266.4(TMEM151A):c.166G>C (p.Gly56Arg)	TMEM151A	Pathogenic	no assertion criteria provided
2443878	NM_153266.4(TMEM151A):c.1085A>G (p.Glu362Gly)	TMEM151A	Pathogenic	no assertion criteria provided
2582673	NM_153266.4(TMEM151A):c.606_607insA (p.Val203fs)	TMEM151A	Pathogenic	no assertion criteria provided
2582674	NM_153266.4(TMEM151A):c.791T>C (p.Val264Ala)	TMEM151A	Pathogenic	no assertion criteria provided
3775395	NM_153266.4(TMEM151A):c.827C>T (p.Pro276Leu)	TMEM151A	Likely pathogenic	criteria provided, single submitter
4279059	NM_153266.4(TMEM151A):c.308T>C (p.Leu103Pro)	TMEM151A	Uncertain significance	criteria provided, single submitter
4291927	NM_153266.4(TMEM151A):c.1024G>C (p.Asp342His)	TMEM151A	Uncertain significance	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 3 · Orphanet: 0 · 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
TMEM151A	Strong	Autosomal dominant	episodic kinesigenic dyskinesia 3	3

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
TMEM151A	HGNC:28497	ENSG00000179292	Q8N4L1	Transmembrane protein 151A	gencc,clinvar

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)
TMEM151A	Other/Unknown	no		Tmem151

Expression context

Cohort genes with no expression data: 0.

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
Brodmann (1909) area 9	1
C1 segment of cervical spinal cord	1
spinal cord	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
TMEM151A	126	broad	yes	C1 segment of cervical spinal cord, spinal cord, Brodmann (1909) area 9

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
TMEM151A	774

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
TMEM151A	Q8N4L1	73.63

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 1 evidence-associated genes (0 with Reactome annotation).

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
TMEM151A	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	TMEM151A

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)
TMEM151A	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Cohort genes: TMEM151A