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  2. Predominantly Antibody Deficiency
  3. SPI1
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Predominantly Antibody Deficiency

Gene: SPI1

Green List (high evidence)
SPI1 (Spi-1 proto-oncogene)
EnsemblGeneIds (GRCh38): ENSG00000066336
EnsemblGeneIds (GRCh37): ENSG00000066336
OMIM: 165170, Gene2Phenotype
SPI1 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Six unrelated individuals reported, four with de novo variants, two unphased. Some functional data.
Sources: Literature
Created: 9 May 2021, 10:21 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Agammaglobulinaemia 10, autosomal dominant, MIM# 619707

Publications

Created: 9 May 2021, 10:21 a.m.

Panel version: 0.94

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Agammaglobulinaemia 10, autosomal dominant, MIM# 619707
OMIM
165170
Clinvar variants
Variants in SPI1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SPI1 were changed from Agammaglobulinaemia to Agammaglobulinaemia 10, autosomal dominant, MIM# 619707

9 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: spi1 has been classified as Green List (High Evidence).

9 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: spi1 has been classified as Green List (High Evidence).

9 May 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: SPI1 was added gene: SPI1 was added to Predominantly Antibody Deficiency. Sources: Literature Mode of inheritance for gene: SPI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SPI1 were set to 33951726 Phenotypes for gene: SPI1 were set to Agammaglobulinaemia Review for gene: SPI1 was set to GREEN