SMARCA2

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
OMIM: 600014
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
COFFIN SIRIS 135900, NICOLAIDES-BARAITSER SYNDROME 601358
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
NICOLAIDES-BARAITSER SYNDROME, COFFIN SIRIS
R-numbers: R59
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Nicolaides-Baraitser syndrome 601358
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Nicolaides-Baraitser syndrome, 601358, COFFIN SIRIS