1. Genes and Genomic Entities
  2. SMARCC2

SMARCC2

SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2
OMIM: 601734, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green SMARCC2 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.169
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Coffin-Siris syndrome 8, OMIM:618362
Green SMARCC2 in DDG2P


Version 6.438
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Syndromic Intellectual Disability and Developmental Delay
    Green SMARCC2 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.159
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Coffin-Siris syndrome 8, 618362
    • Global developmental delay
    • Intellectual disability
    • neurodevelopmental delay and growth retardation
    • prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features
    Green SMARCC2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.330
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    Phenotypes
    • Global developmental delay
    • Intellectual disability
    • neurodevelopmental delay and growth retardation
    • prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features