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COVID-19 research

Gene: SMARCD2

Green List (high evidence)

SMARCD2 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2)
EnsemblGeneIds (GRCh38): ENSG00000108604
EnsemblGeneIds (GRCh37): ENSG00000108604
OMIM: 601736, Gene2Phenotype
SMARCD2 is in 4 panels

2 reviews

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Clinical phenotype resembles leukocyte adhesion deficiency
Created: 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

Louise Daugherty (Genomics England Curator)

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 Neutropenias
Created: 6 Jul 2018, 12:35 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Congenital defects of phagocyte number or function
  • Neutropenia, developmental aberrations, skeletal abnormalities, hematopoietic stem cells, myelodysplasia
OMIM
601736
Clinvar variants
Variants in SMARCD2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2020, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Ellen McDonagh (Genomics England Curator)

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)

1 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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