Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: POLD2
Single affected individual from consanguineous family reported, homozygous missense variant, some functional data.Created: 11 Apr 2020, 5:01 a.m. | Last Modified: 11 Apr 2020, 5:01 a.m.
Panel Version: 2.51
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Low CD4 T cells; Low B cells, normal maturation; recurrent respiratory tract infections, skin infections, warts and molluscum; short stature; intellectual disability
Publications
Added publication referenced by IUIS december 2019 updateCreated: 28 Feb 2020, 8:49 p.m. | Last Modified: 28 Feb 2020, 8:49 p.m.
Panel Version: 2.36
Publications
Phenotypes for gene: POLD2 were changed from Polymerase d 2 deficiency; Recurrent respiratory tract infections, skin infections, warts and molluscum, short stature, intellectual disability; Immunodeficiencies affecting cellular and humoral immunity to Polymerase d 2 deficiency; Recurrent respiratory tract infections, skin infections, warts and molluscum, short stature, intellectual disability; Immunodeficiencies affecting cellular and humoral immunity; Low CD4 T cells; Low B cells, normal maturation
Publications for gene POLD2 were updated from 32086639; 32048120 to 31449058; 32086639; 32048120
Publications for gene: POLD2 were set to
Phenotypes for gene: POLD2 were changed from to Polymerase d 2 deficiency; Recurrent respiratory tract infections, skin infections, warts and molluscum, short stature, intellectual disability; Immunodeficiencies affecting cellular and humoral immunity
Mode of inheritance for gene: POLD2 was changed from to BIALLELIC, autosomal or pseudoautosomal
gene: POLD2 was added gene: POLD2 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: POLD2 was set to