SMARCB1

SWI/SNF related BAF chromatin remodeling complex subunit B1

10 disorders 6 untyped 4 causative 22q11.23 gene with protein product

HGNC:11103 Monarch NCBI Gene 6598 ENSG00000099956 UniProt Q12824 OMIM 601607

Previous symbols: SNF5L1. Aliases: BAF47, Ini1, INI-1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144, SNF5.

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
Neurofibromatosis	causative	mechanism: Composite 22q SMARCB1/LZTR1 and NF2 Inactivation; Germline Tumor Suppressor Inactivation (First Hit) subtype: Schwannomatosis scoped to subtype: Schwannomatosis
Rhabdoid Tumor Predisposition Syndrome 1	causative germline	mechanism: Germline SMARCB1 Loss-of-Function; Somatic Inactivation of the Second SMARCB1 Allele
Schwannoma	causative
Schwannomatosis	causative	mechanism: Germline SMARCB1 or LZTR1 Loss of Function (First Hit); SMARCB1 SWI/SNF Chromatin-Remodeling Dysfunction subtype: SMARCB1-related
Atypical Teratoid/Rhabdoid Tumor	untyped Somatic/Germline Loss-of-Function	mechanism: SMARCB1 or SMARCA4 Inactivation
Chordoma	untyped Somatic Epigenetic Dysregulation
Coffin-Siris syndrome	untyped Causative	mechanism: BAF/SWI-SNF chromatin remodeling dysfunction; Cardiac neural crest dysregulation from BAF dysfunction; Midline brain glia aberrations from SMARCB1 dysfunction subtype: CSS3 scoped to subtype: CSS3
Epithelioid Sarcoma	untyped Somatic Loss-of-Function
Malignant Peripheral Nerve Sheath Tumor	untyped Somatic loss of function in epithelioid subtype	mechanism: SMARCB1 Loss in Epithelioid MPNST scoped to subtype: Epithelioid
Rhabdoid Tumor	untyped Somatic/Germline Loss-of-Function

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 1 MONDO:0012252	AD	Definitive 2018-10-12	Rhabdoid Tumor Predisposition Syndrome 1 causative
Coffin-Siris syndrome MONDO:0015452	AD	Definitive 2023-08-15	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 1, Schwannomatosis

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