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Primary immunodeficiency or monogenic inflammatory bowel disease v2.556 OAS1 Sarah Leigh Phenotypes for gene: OAS1 were changed from Autoinflammatory Disorders; Pulmonary alveolar proteinosis; Recurrent fever; Dermatitis; Inflammatory bowel disease; Hypogammaglobulinemia to Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia, OMIM:618042
Primary immunodeficiency or monogenic inflammatory bowel disease v2.555 OAS1 Sarah Leigh Tag gene-checked was removed from gene: OAS1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.548 OAS1 Arina Puzriakova Tag gene-checked tag was added to gene: OAS1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 OAS1 Arina Puzriakova Tag for-review was removed from gene: OAS1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 OAS1 Arina Puzriakova commented on gene: OAS1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 OAS1 Arina Puzriakova Source Expert Review Green was added to OAS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.439 OAS1 Arina Puzriakova Phenotypes for gene: OAS1 were changed from Autoinflammatory Disorders; Pulmonary alveolar proteinosis, skin rash; OAS1 GOF to Autoinflammatory Disorders; Pulmonary alveolar proteinosis; Recurrent fever; Dermatitis; Inflammatory bowel disease; Hypogammaglobulinemia
Primary immunodeficiency or monogenic inflammatory bowel disease v2.438 OAS1 Arina Puzriakova Mode of pathogenicity for gene: OAS1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Primary immunodeficiency or monogenic inflammatory bowel disease v2.437 OAS1 Arina Puzriakova edited their review of gene: OAS1: Added comment: Additional publication identified by Boaz Palterer (PMID:34145065) supports the inclusion of this gene as Green on this panel. There are now at least 4 different gain-of-function heterozygous variants in the OAS1 gene identified in 8 unrelated families with 10 affected individuals (P5 in PMID:34145065 and C-II-1 in PMID:29455859 refer to the same individual).; Changed rating: GREEN; Changed publications to: 34145065, 29455859; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v2.437 OAS1 Arina Puzriakova Publications for gene: OAS1 were set to 32086639; 29455859; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.434 OAS1 Boaz Palterer reviewed gene: OAS1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 34145065; Phenotypes: recurrent fever, dermatitis, inflammatory bowel disease, pulmonary alveolar proteinosis, hypogammaglobulinemia.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary immunodeficiency or monogenic inflammatory bowel disease v2.337 OAS1 Arina Puzriakova Classified gene: OAS1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.337 OAS1 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.337 OAS1 Arina Puzriakova Gene: oas1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.336 OAS1 Arina Puzriakova Tag for-review tag was added to gene: OAS1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.169 OAS1 Rebecca Foulger Classified gene: OAS1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.169 OAS1 Rebecca Foulger Added comment: Comment on list classification: Upgraded rating from Amber to Green following advice from Helen Brittain (Genomics England Clinical Team): There appear to be three unrelated families with variants and hypogammaglobulinaemia. I think this is a relevant phenotype for immune dysfunction.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.169 OAS1 Rebecca Foulger Gene: oas1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.138 OAS1 Rebecca Foulger Classified gene: OAS1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.138 OAS1 Rebecca Foulger Added comment: Comment on list classification: Updated from Red to Amber, awaiting clinical review.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.138 OAS1 Rebecca Foulger Gene: oas1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.137 OAS1 Rebecca Foulger commented on gene: OAS1
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 OAS1 Zornitza Stark reviewed gene: OAS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29455859; Phenotypes: infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 OAS1 Louise Daugherty reviewed gene: OAS1: Rating: AMBER; Mode of pathogenicity: ; Publications: 29455859; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 OAS1 Louise Daugherty Publications for gene OAS1 were updated from 32048120; 32086639 to 32086639; 29455859; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.13 OAS1 Louise Daugherty gene: OAS1 was added
gene: OAS1 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: OAS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: OAS1 were set to 32048120; 32086639
Phenotypes for gene: OAS1 were set to Autoinflammatory Disorders; Pulmonary alveolar proteinosis, skin rash; OAS1 GOF