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
16 panels

Green SMARCA4 in Adult solid tumours for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.22

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • predisposition to small cell ca
  • Ovary with hypercalcemia

Green SMARCA4 in Tumour predisposition - childhood onset

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 1.36

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert List
  • Expert Review Green
  • Expert list
Phenotypes
  • 613325
  • predisposition to small cell ca
  • Ovary with hypercalcemia

Green SMARCA4 in Rhabdoid tumour predisposition


Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review

Green SMARCA4 in Tumour predisposition - adult onset


Version 1.1

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Adult solid tumours for rare disease (Version 1.21)
Phenotypes
  • Ovary with hypercalcemia
  • predisposition to small cell ca

Red SMARCA4 in Autism


Version 0.15

review Not set
Sources
  • Expert Review Red
  • SFARI

Red SMARCA4 in Unexplained kidney failure in young people

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.73

review Unknown
Sources
  • Expert list
  • Expert Review Red

Green SMARCA4 in Childhood solid tumours cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.5

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • predisposition to small cell ca
  • Ovary with hypercalcemia

Green SMARCA4 in Adult solid tumours cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.7

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • predisposition to small cell ca
  • Ovary with hypercalcemia

Red SMARCA4 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.202

review Not set
Sources
Phenotypes
  • Coffin Siris syndrome

Red SMARCA4 in CAKUT

Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 1.39

review Unknown
Sources
  • Expert Review Red
  • Expert list

Red SMARCA4 in Renal and urinary tract disorders


Version 1.18

review Unknown
Sources
  • Expert Review Red

Red SMARCA4 in Unexplained paediatric onset end-stage renal disease


Version 0.38

review Unknown
Sources
  • Expert Review Red

Green SMARCA4 in Fetal anomalies


Version 0.344

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • RHABDOID TUMOR PREDISPOSITION SYNDROME 2
  • COFFIN SIRIS

Green SMARCA4 in DDG2P


Version 1.81

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COFFIN SIRIS 135900
  • RHABDOID TUMOR PREDISPOSITION SYNDROME 2 613325

Green SMARCA4 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.1039

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Rhabdoid tumor predisposition syndrome 2, 613325Mental retardation, autosomal dominant 16, 614609
  • COFFIN SIRIS

Amber SMARCA4 in Sarcoma susceptibility


Version 0.10

review Not set
Sources
  • NHS GMS
  • Expert Review Amber
  • Expert list
Phenotypes
  • undifferentiated uterine sarcoma