COVID-19 research
Gene: SMARCD2
Clinical phenotype resembles leukocyte adhesion deficiencyCreated: 5 May 2020, 10:46 a.m. | Last Modified: 5 May 2020, 10:46 a.m.
Panel Version: 0.180
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
neutropenia; specific granule deficiency; myelodysplasia; developmental delay; dysmorphic features
Publications
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): SMARCD2 .PanelApp HGNC gene symbol check: SMARCD2 . IUIS Disease: SMARCD2 deficiency . IUIS Inheritance: AR .T cells: Low CD8, Nl CD4, absent MHC I on lymphocytes, .B cells: N/A, .IUIS Other affected cells: N. IUIS Associated features: Neutropenia, developmental aberrations, skeletal abnormalities, hematopoietic stem cells, myelodysplasia. IUIS Major category: Congenital defects of phagocyte number or function. IUIS Subcategory: Congenital NeutropeniasCreated: 6 Jul 2018, 12:35 p.m.
Source Expert Review Green was added to SMARCD2. Added phenotypes Congenital defects of phagocyte number or function; Neutropenia, developmental aberrations, skeletal abnormalities, hematopoietic stem cells, myelodysplasia for gene: SMARCD2 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: SMARCD2 was added gene: SMARCD2 was added to Viral susceptibility. Sources: IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: SMARCD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMARCD2 were set to 32086639; 32048120 Phenotypes for gene: SMARCD2 were set to Congenital defects of phagocyte number or function; Neutropenia, developmental aberrations, skeletal abnormalities, hematopoietic stem cells, myelodysplasia