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

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Amber SMARCC2 in Autism


Version 0.36

review Not set
Sources
  • Expert Review Amber
  • SFARI
Green SMARCC2 in DDG2P


Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

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 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.193
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • 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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    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 Green
    Phenotypes
    • Global developmental delay
    • Intellectual disability
    • neurodevelopmental delay and growth retardation
    • prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features
    Green SMARCC2 in Severe Paediatric Disorders


    Version 1.184

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Coffin-Siris syndrome 8, 618362