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Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 SMARCD2 Arina Puzriakova Tag for-review was removed from gene: SMARCD2.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 SMARCD2 Arina Puzriakova commented on gene: SMARCD2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 SMARCD2 Arina Puzriakova Source Expert Review Green was added to SMARCD2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.358 SMARCD2 Arina Puzriakova Classified gene: SMARCD2 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.358 SMARCD2 Arina Puzriakova Added comment: 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).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.358 SMARCD2 Arina Puzriakova Gene: smarcd2 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.357 SMARCD2 Arina Puzriakova Tag for-review tag was added to gene: SMARCD2.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.86 SMARCD2 Ivone Leong 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
Primary immunodeficiency or monogenic inflammatory bowel disease v2.85 SMARCD2 Ivone Leong Classified gene: SMARCD2 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.85 SMARCD2 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Green based on expert review.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.85 SMARCD2 Ivone Leong Gene: smarcd2 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.84 SMARCD2 Ivone Leong Publications for gene: SMARCD2 were set to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 SMARCD2 Zornitza Stark reviewed gene: SMARCD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28369036, 28369034; Phenotypes: Specific granule deficiency 2, MIM# 617475, Neutropaenia, Neurodevelopmental abnormalities in some, Myelodysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 SMARCD2 Louise Daugherty 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
Primary immunodeficiency or monogenic inflammatory bowel disease SMARCD2 Louise Daugherty commented on gene: SMARCD2
Primary immunodeficiency or monogenic inflammatory bowel disease SMARCD2 Louise Daugherty reviewed gene: SMARCD2
Primary immunodeficiency or monogenic inflammatory bowel disease SMARCD2 Louise Daugherty Added gene to panel