Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: SMARCD2The 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
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
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
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.
Tag for-review was removed from gene: SMARCD2.
Source Expert Review Green was added to SMARCD2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: smarcd2 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: SMARCD2.
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
Gene: smarcd2 has been classified as Green List (High Evidence).
Publications for gene: SMARCD2 were set to 32048120; 32086639
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
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.
Phenotypes for gene SMARCD2 were set to Neutropenia, developmental aberrations, skeletal abnormalities, hematopoietic stem cells, myelodysplasia, Congenital defects of phagocyte number or function
SMARCD2 was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018
SMARCD2 was created by Louise Daugherty