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Primary immunodeficiency or monogenic inflammatory bowel disease v2.582 SASH3 Eleanor Williams commented on gene: SASH3
Primary immunodeficiency or monogenic inflammatory bowel disease v2.582 SASH3 Eleanor Williams Tag gene-checked was removed from gene: SASH3.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.557 SASH3 Sarah Leigh Phenotypes for gene: SASH3 were changed from Combined immunodeficiency; lymphopenia; neutropenia; immunodysregulation; autoimmune cytopenias to Immunodeficiency 102, OMIM:301082
Primary immunodeficiency or monogenic inflammatory bowel disease v2.548 SASH3 Eleanor Williams Tag gene-checked tag was added to gene: SASH3.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 SASH3 Arina Puzriakova Tag Q2_21_rating was removed from gene: SASH3.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 SASH3 Arina Puzriakova commented on gene: SASH3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.531 SASH3 Arina Puzriakova Source Expert Review Green was added to SASH3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.427 SASH3 Zornitza Stark reviewed gene: SASH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33876203; Phenotypes: Combined immunodeficiency, immune dysregulation; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Primary immunodeficiency or monogenic inflammatory bowel disease v2.421 SASH3 Arina Puzriakova Tag Q2_21_rating tag was added to gene: SASH3.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.421 SASH3 Arina Puzriakova Classified gene: SASH3 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.421 SASH3 Arina Puzriakova Added comment: Comment on list classification: New gene added by Boaz Palterer. There is sufficient evidence to promote this gene to Green at the next GMS panel update - at least 4 unrelated individuals presenting combined immunodeficiency in association with variants in this gene. Supported by functional data and animal model.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.421 SASH3 Arina Puzriakova Gene: sash3 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.420 SASH3 Arina Puzriakova Publications for gene: SASH3 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v2.413 SASH3 Boaz Palterer gene: SASH3 was added
gene: SASH3 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: SASH3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SASH3 were set to Combined immunodeficiency; lymphopenia; neutropenia; immunodysregulation; autoimmune cytopenias
Penetrance for gene: SASH3 were set to unknown
Review for gene: SASH3 was set to GREEN
Added comment: Delmonte et al. described three novel SASH3 deleterious variants in four unrelated male patients with a history of combined immunodeficiency and immune dysregulation manifesting as recurrent sinopulmonary, cutaneous and mucosal infections, and refractory autoimmune cytopenias.
Functional data: Lentivirus-mediated transfer of SASH3 cDNA in KO Jurkat cells and patient's cell lines restored protein expression and cell proliferation. The KO mouse phenotype is compatible.
https://ashpublications.org/blood/article-abstract/doi/10.1182/blood.2020008629/475781/SASH3-variants-cause-a-novel-form-of-X-linked?redirectedFrom=fulltext
Sources: Literature