SMARCC1

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green SMARCC1 in Hydrocephalus


Version 4.4
Latest signed off version: v4.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital hydrocephalus
  • Aqueductal stenosis
  • Septal agenesis
  • Corpus callosum abnormalities
  • {Hydrocephalus, congenital, 5, susceptibility to}, OMIM:620241
Green SMARCC1 in Fetal anomalies


Version 3.136
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital hydrocephalus
  • Aqueductal stenosis
  • Septal agenesis
  • Corpus callosum abnormalities
  • {Hydrocephalus, congenital, 5, susceptibility to}, OMIM:620241
Red SMARCC1 in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.472
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red