COVID-19 research
Gene: SMARCD2

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 5 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

28369036

Created: 5 May 2020, 10:46 a.m.
Last Modified: 5 May 2020, 10:46 a.m.
Panel version: 0.180

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.

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

Panel version: Imported from Primary immunodeficiency panel version 0.1567

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
IUIS Classification December 2019
IUIS Classification February 2018
IUIS Classification December 2019
IUIS Classification February 2018

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

COVID-19 research Gene: SMARCD2