SMARCA4

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4

8 disorders 5 untyped 2 causative 1 no genetic record 19p13.2 gene with protein product

HGNC:11100 Monarch NCBI Gene 6597 ENSG00000127616 UniProt P51532 OMIM 603254

Previous symbols: SNF2L4. Aliases: hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786.

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
Otosclerosis	causative germline	mechanism: Loss of Otic Capsule Remodeling Quiescence
Rhabdoid Tumor Predisposition Syndrome 2	causative germline	mechanism: Germline SMARCA4 Loss-of-Function; Somatic Inactivation of the Second SMARCA4 Allele
Atypical Teratoid/Rhabdoid Tumor	untyped Rare Somatic/Germline Loss-of-Function	mechanism: SMARCB1 or SMARCA4 Inactivation
Coffin-Siris syndrome	untyped Causative	mechanism: BAF/SWI-SNF chromatin remodeling dysfunction; Cardiac neural crest dysregulation from BAF dysfunction; Cranial neural crest specification defect from ARID1A-BAF/ZIC2 axis subtype: CSS4 scoped to subtype: CSS4
Medulloblastoma, WNT-Activated	untyped Somatic Mutation
Rhabdoid Tumor	untyped Rare Somatic/Germline Loss-of-Function
Sinonasal Undifferentiated Carcinoma	untyped Somatic loss-of-function
Holt-Oram syndrome	no genetic record	mechanism: Cofactor and Chromatin Remodeling Dysfunction

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
rhabdoid tumor predisposition syndrome 2 MONDO:0013224	AD	Definitive 2018-06-29	Rhabdoid Tumor Predisposition Syndrome 2 causative
Coffin-Siris syndrome MONDO:0015452	AD	Definitive 2025-06-08	Coffin-Siris syndrome untyped

Mechanism modules · computed from kb/

epigenetic_machinery_neurodevelopmental_dysregulation via Coffin-Siris syndrome
germline_two_hit_tumor_predisposition via Rhabdoid Tumor Predisposition Syndrome 2

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