SMARCA4

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
OMIM: 603254, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Red SMARCA4 in Congenital diaphragmatic hernia Level 2: Dysmorphic and congenital abnormality syndromes Version 1.16	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 1.389	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 0.430	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SMARCA4 in Hypertrichosis syndromes Level 2: Dysmorphic and congenital abnormality syndromes Version 0.46	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SMARCA4 in Mendeliome Version 1.2374	review	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 0.131	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red SMARCA4 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.119 Component of the following Super Panels: Progressive Neurological Conditions	review	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 0.540	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SMARCA4 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Coffin-Siris syndrome 4 (MIM# 614609)
Amber SMARCA4 in Deafness_Isolated Level 2: Hearing and ear disorders Version 1.67	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Otosclerosis MONDO:0005349, SMARCA4-related
Green SMARCA4 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.260	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 0.76 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	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 1.314	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 1.1	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 1.0	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 1.1	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