1. Panels
  2. Disorders of immune dysregulation
  3. SASH3
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Disorders of immune dysregulation

Gene: SASH3

Green List (high evidence)
SASH3 (SAM and SH3 domain containing 3)
EnsemblGeneIds (GRCh38): ENSG00000122122
EnsemblGeneIds (GRCh37): ENSG00000122122
OMIM: 300441, Gene2Phenotype
SASH3 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four unrelated males reported presenting with combined immunodeficiency and immune dysregulation manifesting as recurrent sinopulmonary, cutaneous and mucosal infections, and refractory autoimmune cytopaenias. One missense variant, rest were nonsense.
Sources: Literature
Created: 13 Jun 2021, 5:55 a.m.

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

Phenotypes
Immunodeficiency 102, MIM# 301082

Publications

Created: 13 Jun 2021, 5:55 a.m.

Panel version: 0.142

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immunodeficiency 102, MIM# 301082
OMIM
300441
Clinvar variants
Variants in SASH3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Jun 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SASH3 were changed from Combined immunodeficiency; immune dysregulation to Immunodeficiency 102, MIM# 301082

13 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sash3 has been classified as Green List (High Evidence).

13 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sash3 has been classified as Green List (High Evidence).

13 Jun 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SASH3 was added gene: SASH3 was added to Disorders of immune dysregulation. Sources: Literature Mode of inheritance for gene: SASH3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SASH3 were set to 33876203 Phenotypes for gene: SASH3 were set to Combined immunodeficiency; immune dysregulation Review for gene: SASH3 was set to GREEN