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  2. Intellectual_disability
  3. SMARCA2
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Intellectual_disability

Gene: SMARCA2

Red List (low evidence)
SMARCA2 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2)
EnsemblGeneIds (GRCh38): ENSG00000080503
EnsemblGeneIds (GRCh37): ENSG00000080503
OMIM: 600014, Gene2Phenotype
SMARCA2 is in 5 panels

0 reviews

Details

Sources
  • Known gene (Grozeva et al, 2015)
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Nicolaides-Baraitser syndrome, 601358
  • Intellectual disability
OMIM
600014
Clinvar variants
Variants in SMARCA2
Penetrance
Complete
Panels with this gene

History Filter Activity

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SMARCA2 was added to Intellectual_disabilitypanel. Source: Known gene (Grozeva et al, 2015)

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SMARCA2 was added to Intellectual_disabilitypanel. Sources: Radboud University Medical Center, Nijmegen