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  3. SMARCD2
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BabyScreen+ newborn screening

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Many reports of BMT in childhood; some fatal outcomes untreated.
Created: 24 Mar 2023, 12:51 a.m. | Last Modified: 24 Mar 2023, 12:51 a.m.
Panel Version: 0.2075

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Specific granule deficiency 2 MIM#617475

Created: 24 Mar 2023, 12:51 a.m.
Last Modified: 24 Mar 2023, 12:51 a.m.
Panel version: 0.2075

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

recurrent infections due to defective neutrophil development. Bone marrow findings include paucity of neutrophil granulocytes, absence of granule proteins in neutrophils, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and patients may die in early childhood unless they undergo hematopoietic stem cell transplantation. Most patients have additional findings, including delayed development, mild dysmorphic features, tooth abnormalities, and distal skeletal defects

Rx bone marrow transplant
Sources: Expert list
Created: 23 Mar 2023, 11:37 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Specific granule deficiency 2 MIM#617475

Publications

Created: 23 Mar 2023, 11:37 a.m.

Panel version: 0.2063

Details

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

History Filter Activity

24 Mar 2023, 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).

24 Mar 2023, 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).

24 Mar 2023, Gel status: 0

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: SMARCD2. Tag immunological tag was added to gene: SMARCD2.

23 Mar 2023, Gel status: 0

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

Lilian Downie (Victorian Clinical Genetics Services)

gene: SMARCD2 was added gene: SMARCD2 was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: SMARCD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMARCD2 were set to PubMed: 28369036, 33279574, 33025377 Phenotypes for gene: SMARCD2 were set to Specific granule deficiency 2 MIM#617475 Review for gene: SMARCD2 was set to GREEN