Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: SMARCD2EnsemblGeneIds (GRCh38): ENSG00000108604
EnsemblGeneIds (GRCh37): ENSG00000108604
OMIM: 601736, Gene2Phenotype
SMARCD2 is in 5 panels
4 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 4 Mar 2022, 10:17 a.m. | Last Modified: 4 Mar 2022, 10:17 a.m.
Panel Version: 2.529
Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).Created: 20 Oct 2020, 3:42 p.m. | Last Modified: 20 Oct 2020, 3:42 p.m.
Panel Version: 2.358
Ivone Leong (Genomics England Curator)
Comment on list classification: Promoted from Red to Green based on expert review.Created: 15 Apr 2020, 3:51 p.m. | Last Modified: 15 Apr 2020, 3:51 p.m.
Panel Version: 2.85
Zornitza Stark (Australian Genomics)
Three unrelated families and functional data.Created: 11 Apr 2020, 10:28 a.m. | Last Modified: 11 Apr 2020, 10:28 a.m.
Panel Version: 2.51
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Specific granule deficiency 2, MIM# 617475; Neutropaenia; Neurodevelopmental abnormalities in some; Myelodysplasia
Publications
Variants in this GENE are reported as part of current diagnostic practice
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 NeutropeniasCreated: 6 Jul 2018, 12:35 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- IUIS Classification December 2019
- IUIS Classification February 2018
- Phenotypes
-
- Neutropenia, developmental aberrations, skeletal abnormalities, hematopoietic stem cells, myelodysplasia
- Congenital defects of phagocyte number or function
- Specific granule deficiency 2, 617475
- OMIM
- 601736
- Clinvar variants
- Variants in SMARCD2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag for-review was removed from gene: SMARCD2.
Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Green was added to SMARCD2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: smarcd2 has been classified as Amber List (Moderate Evidence).
Added Tag
Arina Puzriakova (Genomics England Curator)Tag for-review tag was added to gene: SMARCD2.
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: SMARCD2 were changed from Neutropenia, developmental aberrations, skeletal abnormalities, hematopoietic stem cells, myelodysplasia; Congenital defects of phagocyte number or function to Neutropenia, developmental aberrations, skeletal abnormalities, hematopoietic stem cells, myelodysplasia; Congenital defects of phagocyte number or function; Specific granule deficiency 2, 617475
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: smarcd2 has been classified as Green List (High Evidence).
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: SMARCD2 were set to 32048120; 32086639
Added New Source, Set mode of inheritance, Set Phenotypes, Set publications
Louise Daugherty (Genomics England Curator)Source IUIS Classification December 2019 was added to SMARCD2. Mode of inheritance for gene SMARCD2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Neutropenia, developmental aberrations, skeletal abnormalities, hematopoietic stem cells, myelodysplasia; Congenital defects of phagocyte number or function for gene: SMARCD2 Publications for gene SMARCD2 were updated from to 32048120; 32086639
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.
Set penetrance
Louise Daugherty (Genomics England Curator)Phenotypes for gene SMARCD2 were set to Neutropenia, developmental aberrations, skeletal abnormalities, hematopoietic stem cells, myelodysplasia, Congenital defects of phagocyte number or function
Added New Source
Louise Daugherty (Genomics England Curator)SMARCD2 was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018
Created
Louise Daugherty (Genomics England Curator)SMARCD2 was created by Louise Daugherty