Genes in panel
STRs in panel
Prev Next

Primary immunodeficiency

Gene: ABI3

Red List (low evidence)

ABI3 (ABI family member 3)
EnsemblGeneIds (GRCh38): ENSG00000108798
EnsemblGeneIds (GRCh37): ENSG00000108798
OMIM: 606363, Gene2Phenotype
ABI3 is in 2 panels

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

One of the 25 top novel PID-associated genes in a large-cohort WGS analysis, using BeviMed assessment of enrichment for candidate disease-causing variants in individual genes (https://doi.org/10.1101/499988).
Created: 26 May 2020, 8:36 a.m. | Last Modified: 26 May 2020, 8:36 a.m.
Panel Version: 2.175

Mode of inheritance
Unknown

Phenotypes
primary immunodeficiency

Publications

  • https://doi.org/10.1101/499988

Details

Mode of Inheritance
Unknown
Sources
  • Literature
Phenotypes
  • primary immunodeficiency
OMIM
606363
Clinvar variants
Variants in ABI3
Penetrance
None
Panels with this gene

History Filter Activity

26 May 2020, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: ABI3 was added gene: ABI3 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: ABI3 was set to Unknown Phenotypes for gene: ABI3 were set to primary immunodeficiency