SMARCB1

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
OMIM: 601607, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Amber SMARCB1 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.356	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Coffin-Siris syndrome 3, MIM# 614608
Green SMARCB1 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.418	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SMARCB1 in Hypertrichosis syndromes Level 2: Dysmorphic and congenital abnormality syndromes Version 0.46	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SMARCB1 in Mendeliome Version 1.1902	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Coffin-Siris syndrome 3, MIM# 614608
Green SMARCB1 in Cancer Predisposition_Paediatric Level 2: Cancer Version 0.131	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SMARCB1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Coffin-Siris syndrome 3, MIM# 614608 Epilepsy
Green SMARCB1 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.522	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SMARCB1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Coffin-Siris syndrome 3 (MIM# 614608) MONDO:0015452
Green SMARCB1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Coffin-Siris syndrome 3, MIM# 614608
Red SMARCB1 in CGC_86 Version 0.2	review	Other	Sources CGC_86 Phenotypes Rhabdoid tumor predisposition syndrome 1
Red SMARCB1 in NCGC Version 0.2	review	Other	Sources NCGC Phenotypes Rhabdoid tumor predisposition syndrome 1
Red SMARCB1 in TCGA_PANCAN_2018 Version 0.2	review	Other	Sources TCGA_PANCAN_2018 Phenotypes Rhabdoid tumor predisposition syndrome 1
Green SMARCB1 in Schwannomatosis Level 2: Neurology and neurodevelopmental disorders Version 0.16	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes {Schwannomatosis-1, susceptibility to} MIM#162091
Amber SMARCB1 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.252	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Review Phenotypes Coffin-Siris syndrome 3, OMIM:614608
Green SMARCB1 in Hand and foot malformations Level 2: Dysmorphic and congenital abnormality syndromes Version 0.74 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 3 MIM#614608
Green SMARCB1 in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Coffin-Siris syndrome 3, OMIM #614608