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Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 SEC61A1 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: SEC61A1.
Tag Q4_23_NHS_review was removed from gene: SEC61A1.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 SEC61A1 Sarah Leigh reviewed gene: SEC61A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v5.2 SEC61A1 Achchuthan Shanmugasundram Source NHS GMS was added to SEC61A1.
Source Expert Review Green was added to SEC61A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.105 SEC61A1 Achchuthan Shanmugasundram Classified gene: SEC61A1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.105 SEC61A1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated cases in support of the association of this gene with this panel. Hence, this gene can be promoted to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.105 SEC61A1 Achchuthan Shanmugasundram Gene: sec61a1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.104 SEC61A1 Achchuthan Shanmugasundram Phenotypes for gene: SEC61A1 were changed from SEC61A1 deficiency; Severe recurrent respiratory tract infections; Hyperuricemic nephropathy, familial juvenile, 4, 617056; Predominantly Antibody Deficiencies; Severe congenital neutropenia to SEC61A1 deficiency; Severe recurrent respiratory tract infections; Hyperuricemic nephropathy, familial juvenile, 4, 617056; Predominantly Antibody Deficiencies; Hypogammaglobulinaemia; Severe congenital neutropenia
Primary immunodeficiency or monogenic inflammatory bowel disease v4.103 SEC61A1 Achchuthan Shanmugasundram Phenotypes for gene: SEC61A1 were changed from SEC61A1 deficiency; Severe recurrent respiratory tract infections; Hyperuricemic nephropathy, familial juvenile, 4, 617056; Predominantly Antibody Deficiencies to SEC61A1 deficiency; Severe recurrent respiratory tract infections; Hyperuricemic nephropathy, familial juvenile, 4, 617056; Predominantly Antibody Deficiencies; Severe congenital neutropenia
Primary immunodeficiency or monogenic inflammatory bowel disease v4.102 SEC61A1 Achchuthan Shanmugasundram Publications for gene: SEC61A1 were set to 28782633; 32086639; 32048120; 27392076
Primary immunodeficiency or monogenic inflammatory bowel disease v4.101 SEC61A1 Achchuthan Shanmugasundram Mode of inheritance for gene: SEC61A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.100 SEC61A1 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: SEC61A1.
Tag Q4_23_NHS_review tag was added to gene: SEC61A1.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.100 SEC61A1 Achchuthan Shanmugasundram reviewed gene: SEC61A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28782633, 32325141; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.41 SEC61A1 Hannah Knight reviewed gene: SEC61A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 32325141; Phenotypes: Severe congenital neutropenia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v2.530 SEC61A1 Arina Puzriakova changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. It was agreed that SEC61A1 should remain amber at this time.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.530 SEC61A1 Arina Puzriakova Tag for-review was removed from gene: SEC61A1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 SEC61A1 Arina Puzriakova commented on gene: SEC61A1
Primary immunodeficiency or monogenic inflammatory bowel disease v2.170 SEC61A1 Ivone Leong Tag watchlist was removed from gene: SEC61A1.
Tag for-review tag was added to gene: SEC61A1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.170 SEC61A1 Ivone Leong Classified gene: SEC61A1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.170 SEC61A1 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber after discussion with the Genomics England Clinical Team. As there are only 2 families described it was decided that this gene should be rated as Amber. Also added for-review tag.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.170 SEC61A1 Ivone Leong Gene: sec61a1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.169 SEC61A1 Ivone Leong Tag watchlist tag was added to gene: SEC61A1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.94 SEC61A1 Ivone Leong Publications for gene: SEC61A1 were set to 28782633; 32086639; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 SEC61A1 Zornitza Stark reviewed gene: SEC61A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27392076, 28782633; Phenotypes: Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056, Hypogammaglobulinaemia, Severe recurrent respiratory tract infections; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 SEC61A1 Louise Daugherty reviewed gene: SEC61A1: Rating: AMBER; Mode of pathogenicity: ; Publications: 28782633; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 SEC61A1 Louise Daugherty Publications for gene SEC61A1 were updated from 32048120; 32086639 to 28782633; 32086639; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.13 SEC61A1 Louise Daugherty gene: SEC61A1 was added
gene: SEC61A1 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: SEC61A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SEC61A1 were set to 32048120; 32086639
Phenotypes for gene: SEC61A1 were set to SEC61A1 deficiency; Severe recurrent respiratory tract infections; Hyperuricemic nephropathy, familial juvenile, 4, 617056; Predominantly Antibody Deficiencies