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STRs in panel
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Skeletal dysplasia

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

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Details

Sources
Phenotypes
  • Coffin Siris syndrome
OMIM
600014
Clinvar variants
Variants in SMARCA2
Penetrance
Complete
Panels with this gene

History Filter Activity

9 Aug 2016, Gel status: 0

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

SMARCA2 was created by sleigh

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

SMARCA2 was added to Unexplained skeletal dysplasiapanel. Sources: