Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: SASH3Removed the gene-checked tag as this gene is now associated with a relevant phenotype in OMIM.Created: 21 Nov 2022, 4:58 p.m. | Last Modified: 21 Nov 2022, 4:58 p.m.
Panel Version: 2.582
The manuscript has now been published.Created: 13 Jun 2021, 6:08 a.m. | Last Modified: 13 Jun 2021, 6:08 a.m.
Panel Version: 2.427
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Combined immunodeficiency; immune dysregulation
Publications
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 10:59 a.m. | Last Modified: 8 Mar 2022, 10:59 a.m.
Panel Version: 2.532
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.Created: 7 May 2021, 1 p.m. | Last Modified: 7 May 2021, 1 p.m.
Panel Version: 2.421
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: LiteratureCreated: 20 Apr 2021, 3:47 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Combined immunodeficiency; lymphopenia; neutropenia; immunodysregulation; autoimmune cytopenias
Tag gene-checked was removed from gene: SASH3.
Phenotypes for gene: SASH3 were changed from Combined immunodeficiency; lymphopenia; neutropenia; immunodysregulation; autoimmune cytopenias to Immunodeficiency 102, OMIM:301082
Tag gene-checked tag was added to gene: SASH3.
Tag Q2_21_rating was removed from gene: SASH3.
Source Expert Review Green was added to SASH3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_21_rating tag was added to gene: SASH3.
Gene: sash3 has been classified as Amber List (Moderate Evidence).
Publications for gene: SASH3 were set to
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