SMARCC1

SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1
OMIM: 601732, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green SMARCC1 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.449

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • SMARCC1-associated developmental dysgenesis syndrome (MONDO:0700123)

Green SMARCC1 in Hydrocephalus_Ventriculomegaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.127

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital hydrocephalus

Green SMARCC1 in Mendeliome


Version 1.2791

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital hydrocephalus

Green SMARCC1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.205

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • SMARCC1-associated developmental dysgenesis syndrome (MONDO:0700123)

Green SMARCC1 in Fetal anomalies


Version 1.380

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Literature
Phenotypes
  • Corpus callosum abnormalities
  • Aqueductal stenosis
  • Septal agenesis
  • Congenital hydrocephalus