1. Panels
  2. Immunological disorders_SuperPanel_PanelAppAustralia
  3. SMARCD2
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Immunological disorders_SuperPanel_PanelAppAustralia

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 5 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Neurodevelopmental abnormalities in some
  • Neutropaenia
  • Specific granule deficiency 2, MIM#617475
  • Myelodysplasia
OMIM
601736
Clinvar variants
Variants in SMARCD2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Apr 2020, Gel status: 3

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

Rebecca Foulger (Genomics England curator)

gene: SMARCD2 was added gene: SMARCD2 was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Expert Review Green,Expert list Mode of inheritance for gene: SMARCD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMARCD2 were set to 28369034; 28369036 Phenotypes for gene: SMARCD2 were set to Neurodevelopmental abnormalities in some; Neutropaenia; Specific granule deficiency 2, MIM#617475; Myelodysplasia