Activity

Filter

Cancel
Date Panel Item Activity
28 actions
Hereditary Erythrocytosis v2.16 JAK2 Arina Puzriakova Phenotypes for gene: JAK2 were changed from Hereditary erythrocytosis to Hereditary erythrocytosis; Erythrocytosis, somatic, OMIM:133100
Hereditary Erythrocytosis v2.15 JAK2 Arina Puzriakova Tag Q1_25_ NHS_review was removed from gene: JAK2.
Tag Q1_25_ promote_green was removed from gene: JAK2.
Hereditary Erythrocytosis v2.15 JAK2 Arina Puzriakova edited their review of gene: JAK2: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Hereditary Erythrocytosis v2.14 JAK2 Arina Puzriakova Source Expert Review Green was added to JAK2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary Erythrocytosis v2.13 JAK2 Arina Puzriakova Tag Q1_25_ MOI was removed from gene: JAK2.
Hereditary Erythrocytosis v2.11 JAK2 Sarah Leigh Tag Q1_25_ NHS_review tag was added to gene: JAK2.
Tag Q1_25_ MOI tag was added to gene: JAK2.
Tag Q1_25_ promote_green tag was added to gene: JAK2.
Hereditary Erythrocytosis v2.11 JAK2 Sarah Leigh changed review comment from: At least four JAK2 variants have been associated with Hereditary erythrocytosis (PMID: 38629639; 37639050; 27389715). Three biallelic JAK2 variants have been reported in in two unrelated cases (one case being compound heterozygous PMID: 27389715, and the other being homozygous (PMID: 37639050), the forth variant occurs as a heterozygote in the proband, her mother and daughter (PMID: 38629639). All of these four variants have a hyperactivating effect on JAK2/STAT5 signaling pathway (PMID: 38629639; 37639050; 27389715).; to: At least four JAK2 variants have been associated with Hereditary erythrocytosis (PMID: 38629639; 37639050; 27389715). Three biallelic JAK2 variants have been reported in two unrelated cases (one case being compound heterozygous PMID: 27389715, and the other being homozygous (PMID: 37639050), the forth variant occurs as a heterozygote in the proband, her mother and daughter (PMID: 38629639). All of these four variants have a hyperactivating effect on JAK2/STAT5 signaling pathway (PMID: 38629639; 37639050; 27389715).
Hereditary Erythrocytosis v2.11 JAK2 Sarah Leigh Mode of inheritance for gene: JAK2 was changed from Other to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Erythrocytosis v2.10 JAK2 Sarah Leigh edited their review of gene: JAK2: Added comment: At least four JAK2 variants have been associated with Hereditary erythrocytosis (PMID: 38629639; 37639050; 27389715). Three biallelic JAK2 variants have been reported in in two unrelated cases (one case being compound heterozygous PMID: 27389715, and the other being homozygous (PMID: 37639050), the forth variant occurs as a heterozygote in the proband, her mother and daughter (PMID: 38629639). All of these four variants have a hyperactivating effect on JAK2/STAT5 signaling pathway (PMID: 38629639; 37639050; 27389715).; Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Changed phenotypes to: Hereditary erythrocytosis; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Erythrocytosis v2.10 JAK2 Sarah Leigh Added comment: Comment on mode of pathogenicity: Functional studies demonstrate that the missense JAK2 variants reported in PMID: 38629639; 37639050; 27389715 all have a gain of funtion.
Hereditary Erythrocytosis v2.10 JAK2 Sarah Leigh Mode of pathogenicity for gene: JAK2 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Hereditary Erythrocytosis v2.9 JAK2 Sarah Leigh Phenotypes for gene: JAK2 were changed from Erythrocytosis, somatic, OMIM:133100; primary familial polycythemia due to EPO receptor mutation, MONDO:0007572 to Hereditary erythrocytosis
Hereditary Erythrocytosis v2.8 JAK2 Sarah Leigh Phenotypes for gene: JAK2 were changed from Erythrocytosis, somatic, OMIM:133100 to Erythrocytosis, somatic, OMIM:133100; primary familial polycythemia due to EPO receptor mutation, MONDO:0007572
Hereditary Erythrocytosis v2.7 JAK2 Sarah Leigh Publications for gene: JAK2 were set to
Hereditary Erythrocytosis v2.6 JAK2 Anna Godfrey reviewed gene: JAK2: 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: PMID: 38629639, 37639050; Phenotypes: Hereditary erythrocytosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Erythrocytosis v1.32 JAK2 Arina Puzriakova Phenotypes for gene: JAK2 were changed from Erythrocytosis, somatic 133100 to Erythrocytosis, somatic, OMIM:133100
Hereditary Erythrocytosis v1.16 JAK2 Arina Puzriakova Tag for-review was removed from gene: JAK2.
Hereditary Erythrocytosis v1.16 JAK2 Arina Puzriakova Mode of pathogenicity for gene: JAK2 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Hereditary Erythrocytosis v1.15 JAK2 Arina Puzriakova Mode of inheritance for gene: JAK2 was changed from Unknown to Other
Hereditary Erythrocytosis v1.14 JAK2 Arina Puzriakova reviewed gene: JAK2: Rating: RED; 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: 27389715; Phenotypes: Erythrocytosis, somatic, 133100; Mode of inheritance: Other
Hereditary Erythrocytosis v1.12 JAK2 Sarah Leigh Tag for-review tag was added to gene: JAK2.
Hereditary Erythrocytosis v1.12 JAK2 Sarah Leigh Classified gene: JAK2 as Amber List (moderate evidence)
Hereditary Erythrocytosis v1.12 JAK2 Sarah Leigh Added comment: Comment on list classification: An amber rating has been given to JAK2, as only somatic variants in this gene have been reported to be associated with Erythrocytosis, somatic 133100.
Hereditary Erythrocytosis v1.12 JAK2 Sarah Leigh Gene: jak2 has been classified as Amber List (Moderate Evidence).
Hereditary Erythrocytosis v1.8 JAK2 Sarah Leigh changed review comment from: GMS Expert list Green
Sources: Expert list, NHS GMS; to: GMS Expert review Green
Sources: Expert review, NHS GMS
Hereditary Erythrocytosis v1.6 JAK2 Sarah Leigh Classified gene: JAK2 as Green List (high evidence)
Hereditary Erythrocytosis v1.6 JAK2 Sarah Leigh Gene: jak2 has been classified as Green List (High Evidence).
Hereditary Erythrocytosis v1.5 JAK2 Sarah Leigh gene: JAK2 was added
gene: JAK2 was added to Hereditary Erythrocytosis. Sources: Expert list,NHS GMS
somatic tags were added to gene: JAK2.
Mode of inheritance for gene: JAK2 was set to Unknown
Phenotypes for gene: JAK2 were set to Erythrocytosis, somatic 133100
Review for gene: JAK2 was set to GREEN
Added comment: GMS Expert list Green
Sources: Expert list, NHS GMS