Genomics England
GMS Panels
Panels
Genes and Entities

SMARCD2

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2
OMIM: 601736
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 6.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neutropenia, developmental aberrations, skeletal abnormalities, hematopoietic stem cells, myelodysplasia, Congenital defects of phagocyte number or function, Specific granule deficiency 2, 617475