NEFL - dismech genes

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Charcot-Marie-Tooth Disease Dominant Intermediate G	causative gain of function	mechanism: Heterozygous NEFL Missense Variant
Charcot-Marie-Tooth Disease Type 1	causative	mechanism: NEFL Neurofilament Assembly and Transport Defect subtype: CMT1F scoped to subtype: CMT1F
Charcot-Marie-Tooth Disease Type 2	untyped Causative	mechanism: Neurofilament Assembly Disruption subtype: CMT2E treatment: NEFL-Targeting Antisense Oligonucleotide (investigational) scoped to subtype: CMT2E
Amyotrophic Lateral Sclerosis Type 1	no genetic record	biochemical: Neurofilament light chain
Intermediate Charcot-Marie-Tooth Disease	no genetic record	subtype: DI-CMTG

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
Charcot-Marie-Tooth disease MONDO:0015626	AD	Definitive 2023-01-10	Charcot-Marie-Tooth Disease not named
Charcot-Marie-Tooth disease type 2 MONDO:0018993	AR	Definitive 2023-01-10	Charcot-Marie-Tooth Disease Type 2 untyped

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.