SMCHD1 - 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
Bosma Arhinia Microphthalmia Syndrome	causative	mechanism: SMCHD1 ATPase-domain chromatin regulatory alteration animal model: Danio rerio; Xenopus laevis
Facioscapulohumeral Muscular Dystrophy	causative germline	mechanism: D4Z4 Epigenetic Derepression subtype: FSHD2 scoped to subtype: FSHD2
Chromosome 18p Deletion Syndrome	untyped	mechanism: SMCHD1-dependent epigenetic derepression

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
arhinia, choanal atresia, and microphthalmia MONDO:0011323	AD	Definitive 2022-05-20	Bosma Arhinia Microphthalmia Syndrome causative

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