SMARCA4

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4
OMIM: 603254, ClinGen, DECIPHER

16 panels

Panel Reviews Mode of inheritance Details
16 panels

Red SMARCA4 in Congenital diaphragmatic hernia


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Coffin-Siris syndrome 4, MIM# 614609

Red SMARCA4 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Coffin-Siris syndrome 4, MIM#614609

Green SMARCA4 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 1.0

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green SMARCA4 in Hypertrichosis syndromes


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green SMARCA4 in Mendeliome


Version 2.0

3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Coffin-Siris syndrome 4, MIM# 614609
  • Otosclerosis MONDO:0005349, SMARCA4-related

Green SMARCA4 in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 1.0

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Red SMARCA4 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Red
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Refractory seizures

Green SMARCA4 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Red SMARCA4 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
  • Literature
Phenotypes
  • Otosclerosis MONDO:0005349, SMARCA4-related

Green SMARCA4 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Coffin-Siris syndrome 4 (MIM# 614609)

Green SMARCA4 in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Coffin-Siris syndrome 4, MIM# 614609

Green SMARCA4 in Hand and foot malformations


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Coffin-Siris syndrome 4 MIM#614609

Green SMARCA4 in Fetal anomalies


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Literature
Phenotypes
  • Coffin-Siris syndrome 4, MIM# 614609

Red SMARCA4 in Schwannoma


Level 2: Cancer Predisposition
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
  • Expert Review
Phenotypes
  • Schwannoma, MONDO:0002546
  • Rhabdoid tumor predisposition syndrome 2, MONDO:0013224
  • Rhabdoid tumor predisposition syndrome 2, MIM#613325

Green SMARCA4 in Sarcoma soft tissue


Level 2: Cancer Predisposition
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Soft tissue sarcoma, MONDO:0018078
  • Sarcoma, MONDO:0005089
  • Rhabdoid tumor predisposition syndrome 2, MONDO:0013224
  • Rhabdoid tumor predisposition syndrome 2, MIM#613325

Amber SMARCA4 in Neuroblastoma


Level 2: Cancer Predisposition
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • Expert Review
Phenotypes
  • Neuroblastoma, MONDO:0005072
  • Rhabdoid tumor predisposition syndrome 2, MONDO:0013224
  • Rhabdoid tumor predisposition syndrome 2, MIM#613325