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Primary immunodeficiency or monogenic inflammatory bowel disease v4.116 PTPN2 Achchuthan Shanmugasundram Classified gene: PTPN2 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.116 PTPN2 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are two unrelated cases and a Ptpn2 deficient mouse model in support of the association of PTPN2 to this panel. Hence, this gene can be promoted to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.116 PTPN2 Achchuthan Shanmugasundram Gene: ptpn2 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.115 PTPN2 Achchuthan Shanmugasundram Phenotypes for gene: PTPN2 were changed from Lupus; arthritis; common variable immunodeficiency to Lupus; arthritis; common variable immunodeficiency; Very early onset inflammatory bowel disease
Primary immunodeficiency or monogenic inflammatory bowel disease v4.114 PTPN2 Achchuthan Shanmugasundram Publications for gene: PTPN2 were set to 32499645; 27658548
Primary immunodeficiency or monogenic inflammatory bowel disease v4.113 PTPN2 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: PTPN2.
Tag Q4_23_NHS_review tag was added to gene: PTPN2.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.113 PTPN2 Achchuthan Shanmugasundram reviewed gene: PTPN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27658548, 32499645, 32721438; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.50 PTPN2 Hannah Knight reviewed gene: PTPN2: Rating: AMBER; Mode of pathogenicity: None; Publications: 32721438; Phenotypes: Very early onset inflammatory bowel disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v2.180 PTPN2 Arina Puzriakova Classified gene: PTPN2 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.180 PTPN2 Arina Puzriakova Added comment: Comment on list classification: Rating Amber as additional cases required for inclusion of PTPN2 on a diagnostic panel.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.180 PTPN2 Arina Puzriakova Gene: ptpn2 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.175 PTPN2 Zornitza Stark gene: PTPN2 was added
gene: PTPN2 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: PTPN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PTPN2 were set to 32499645; 27658548
Phenotypes for gene: PTPN2 were set to Lupus; arthritis; common variable immunodeficiency
Review for gene: PTPN2 was set to AMBER
Added comment: A single family with a proband diagnosed with CVID and arthiritis (among other features) with an intronic expression quantitative trait loci (eQTL) rs2847297-G in trans with a stopgain variant. The stopgain variant was also identified in the proband's mother, who was diagnosed with lupus. A Ptpn2 deficient mouse model also demonstrates an autoimmune phenotype.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 PTPN22 Louise Daugherty reviewed gene: PTPN22: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 PTPN22 Louise Daugherty Source London North GLH was added to PTPN22.
Source Expert Review Red was added to PTPN22.
Source NHS GMS was added to PTPN22.
Source North West GLH was added to PTPN22.
Rating Changed from No List (delete) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.131 PTPN22 Louise Daugherty gene: PTPN22 was added
gene: PTPN22 was added to Primary immunodeficiency. Sources:
Mode of inheritance for gene: PTPN22 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PTPN22 were set to {Systemic lupus erythematosus susceptibility to}; Lupus susceptibility