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22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss
ISCA-37433-Loss 3
22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss
ISCA-37446-Loss 2

Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: SASH3

SASH3 (SAM and SH3 domain containing 3)
EnsemblGeneIds (GRCh38): ENSG00000122122
EnsemblGeneIds (GRCh37): ENSG00000122122
OMIM: 300441, Gene2Phenotype
SASH3 is in 1 panel

4 reviews

Eleanor Williams (Genomics England Curator)

Removed 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

Created: 21 Nov 2022, 4:58 p.m.
Last Modified: 21 Nov 2022, 4:58 p.m.
Panel version: 2.582

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

33876203

Created: 13 Jun 2021, 6:08 a.m.
Last Modified: 13 Jun 2021, 6:08 a.m.
Panel version: 2.427

Arina Puzriakova (Genomics England Curator)

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

Created: 7 May 2021, 1 p.m.
Last Modified: 7 May 2021, 1 p.m.
Panel version: 2.532

Boaz Palterer (University of Florence)

Green List (high evidence)

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
Created: 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

Created: 20 Apr 2021, 3:47 p.m.

Panel version: 2.413

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Green

Phenotypes

Immunodeficiency 102, OMIM:301082

OMIM

300441

Clinvar variants

Variants in SASH3

Penetrance

unknown

Publications

33876203

Panels with this gene

Primary immunodeficiency or monogenic inflammatory bowel disease

History Filter Activity

21 Nov 2022, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked was removed from gene: SASH3.

30 Jun 2022, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SASH3 were changed from Combined immunodeficiency; lymphopenia; neutropenia; immunodysregulation; autoimmune cytopenias to Immunodeficiency 102, OMIM:301082

9 May 2022, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked tag was added to gene: SASH3.

8 Mar 2022, Gel status: 3