SMARCD2

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2
OMIM: 601736, Gene2Phenotype

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green SMARCD2 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Specific granule deficiency 2, MIM# 617475 Neutropaenia Neurodevelopmental abnormalities in some Myelodysplasia
Green SMARCD2 in Phagocyte Defects Level 2: Immunological disorders Version 1.29 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Specific granule deficiency 2, MIM# 617475 Neutropaenia Neurodevelopmental abnormalities in some Myelodysplasia
Amber SMARCD2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Specific granule deficiency 2, 617475 (includes global developmental delay in some patients)
Red SMARCD2 in Amelogenesis imperfecta Level 2: Skeletal disorders Version 1.10	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Specific granule deficiency 2, 617475
Green SMARCD2 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Specific granule deficiency 2 MIM#617475 Tags treatable immunological

5 panels