IEMbase 0560: KCTD7-related CLN14 / EPM3
Scope
| Field | Value |
|---|---|
| IEMbase ID | 560 |
| Nosology | 20.4.12.01 |
| Gene | KCTD7 |
| External IDs | OMIM:611726; ORPHA:263516 |
| Generated mapping | UNMAPPED; best candidate Progressive_Myoclonus_Epilepsy.yaml |
| Candidate DisMech targets | Progressive_Myoclonus_Epilepsy.yaml and Neuronal_Ceroid_Lipofuscinosis.yaml as broad context only |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents KCTD7-related CLN14 disease, with alternate label progressive myoclonic epilepsy type 3 and abbreviation CLN14 / EPM3. The record is autosomal recessive, infantile form, of unknown treatability, and has no treatment rows.
Clinical rows include ataxia, developmental regression, abnormal EEG, electron-microscopy storage material, hypokinesia, microcephaly, myoclonic epilepsy, neurodegenerative disease, myoclonic seizures, and abnormal, delayed, or absent speech. Characteristic rows include cerebellar atrophy, cerebral atrophy, epilepsy, language difficulties, movement disorder, muscular atrophy, optic atrophy, spinal muscular atrophy, and vision loss or optic atrophy.
DisMech phenotype coverage
Progressive_Myoclonus_Epilepsy.yaml covers the broad PME grouping and
mentions neuronal ceroid lipofuscinoses as one of the lysosomal storage
subgroups within PME. Neuronal_Ceroid_Lipofuscinosis.yaml covers the broad
NCL group and shared toxic endo-lysosomal storage, visual decline, seizures,
myoclonus, and motor/cognitive deterioration.
Neither local entry appears to model KCTD7, CLN14, or EPM3 specifically. The generated PME candidate is therefore useful context but not an exact DisMech target for this IEMbase record.
Concordance and completeness
Judgement: broad partial context only; exact KCTD7/CLN14/EPM3 coverage remains a local gap.
IEMbase overlaps with local PME and NCL group entries on myoclonic epilepsy, neurodegeneration, seizures, ataxia, storage material, movement disorder, visual/optic involvement, language difficulty, and cerebral/cerebellar atrophy. The missing piece is a gene-specific KCTD7 CLN14 mechanism and subtype entry.
IEMbase provides a compact curation seed for that gap, including infantile onset, developmental regression, EEG abnormality, EM storage material, hypokinesia, microcephaly, speech impairment, optic atrophy, and muscular or spinal muscular atrophy.
Curation actions
- Reject
Progressive_Myoclonus_Epilepsy.yamlas an exact mapping; retain it only as grouping context. - Create or prioritize a KCTD7-related CLN14 / EPM3 curation target under the NCL/PME neighborhood.
- Preserve IEMbase infantile-onset, regression, EEG, EM storage, optic, speech, and atrophy prompts for that future entry.