SMARCE1

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
OMIM: 603111
PanelMode of inheritanceDetails
2 panels
R-numbers: R21, R412
Signed-off version 2.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Coffin-Siris syndrome 5, OMIM:616938
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Coffin-Siris syndrome 5, OMIM:616938