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Primary immunodeficiency

Gene: SASH3

Amber List (moderate evidence)

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

3 reviews

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

Arina Puzriakova (Genomics England Curator)

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

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

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
Phenotypes
  • Combined immunodeficiency
  • lymphopenia
  • neutropenia
  • immunodysregulation
  • autoimmune cytopenias
Tags
Q2_21_rating
OMIM
300441
Clinvar variants
Variants in SASH3
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

7 May 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: SASH3.

7 May 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: sash3 has been classified as Amber List (Moderate Evidence).

7 May 2021, Gel status: 0

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: SASH3 were set to

20 Apr 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set penetrance

Boaz Palterer (University of Florence)

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