1. Panels
  2. Phagocyte Defects
  3. SMARCD2
STRs in panel
Prev Next
Regions in panel
Prev Next

Phagocyte Defects

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three unrelated families and functional data.
Sources: Expert list
Created: 5 Apr 2020, 4:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Specific granule deficiency 2, MIM# 617475; Neutropaenia; Neurodevelopmental abnormalities in some; Myelodysplasia

Publications

Created: 5 Apr 2020, 4:48 a.m.

Panel version: 0.9

Details

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

History Filter Activity

5 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: smarcd2 has been classified as Green List (High Evidence).

5 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: smarcd2 has been classified as Green List (High Evidence).

5 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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