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Primary immunodeficiency or monogenic inflammatory bowel disease v4.51 | POLD1 | Achchuthan Shanmugasundram Classified gene: POLD1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.51 | POLD1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated cases and functional data in support of the association of biallelic POL1D variants with immunodeficiency. Hence, this gene can be promoted to green rating in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.51 | POLD1 | Achchuthan Shanmugasundram Gene: pold1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.50 | POLD1 |
Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: POLD1. Tag Q4_23_NHS_review tag was added to gene: POLD1. |
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Primary immunodeficiency or monogenic inflammatory bowel disease v4.50 | POLD1 | Achchuthan Shanmugasundram reviewed gene: POLD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.40 | POLD1 | Hannah Knight reviewed gene: POLD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33140240; Phenotypes: Polymerase d 1 deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.104 | POLD1 | Ivone Leong Classified gene: POLD1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.104 | POLD1 | Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber based on expert review and evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.104 | POLD1 | Ivone Leong Gene: pold1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 | POLD1 | Zornitza Stark reviewed gene: POLD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31629014, 31449058; Phenotypes: Low CD4 T cells, Low B cells, normal maturation, recurrent respiratory tract infections, skin infections, warts and molluscum, short stature, intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 | POLD1 | Louise Daugherty reviewed gene: POLD1: Rating: AMBER; Mode of pathogenicity: ; Publications: 31449058, 31629014; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 | POLD1 | Louise Daugherty Publications for gene POLD1 were updated from 32048120; 32086639 to 31449058; 32086639; 32048120; 31629014 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.13 | POLD1 |
Louise Daugherty gene: POLD1 was added gene: POLD1 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: POLD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLD1 were set to 32048120; 32086639 Phenotypes for gene: POLD1 were set to Recurrent respiratory tract infections, skin infections, warts and molluscum, short stature, intellectual disability; Polymerase d 1 deficiency; Immunodeficiencies affecting cellular and humoral immunity |