BSCL2 - 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
Berardinelli-Seip Congenital Lipodystrophy	causative germline	mechanism: BSCL2 seipin lipid-droplet dysregulation subtype: CGL2 scoped to subtype: CGL2
Distal Hereditary Motor Neuronopathy, Autosomal Dominant	untyped	mechanism: Disrupted Proteostasis and Axonal Transport; Motor Neuron and Distal Axon Gene Defect subtype: dHMN5 scoped to subtype: dHMN5

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
lipodystrophy MONDO:0006573	AR	Definitive 2024-11-13	no dismech entry
distal hereditary motor neuropathy MONDO:0018894	AD	Definitive 2022-09-23	no dismech entry

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