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Congenital hyperinsulinism v2.32 HK1 Arina Puzriakova Tag Q3_22_rating was removed from gene: HK1.
Tag Q3_22_MOI was removed from gene: HK1.
Tag Q3_22_NHS_review was removed from gene: HK1.
Congenital hyperinsulinism v2.32 HK1 Arina Puzriakova reviewed gene: HK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v2.31 HK1 Arina Puzriakova Source Expert Review Green was added to HK1.
Source NHS GMS was added to HK1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital hyperinsulinism v2.30 HK1 Eleanor Williams Classified gene: HK1 as Amber List (moderate evidence)
Congenital hyperinsulinism v2.30 HK1 Eleanor Williams Added comment: Comment on list classification: Recommended for GREEN rating following GMS review. Sufficient cases. The paper has not yet been published but has been accepted for publication. Note that the variants are in a non-coding region and therefore may not be prioritised by tiering in the current Genomics England pipeline.
Congenital hyperinsulinism v2.30 HK1 Eleanor Williams Gene: hk1 has been classified as Amber List (Moderate Evidence).
Congenital hyperinsulinism v2.26 HK1 Sarah Leigh changed review comment from: Comment on publications: this article is a preprint, the PMID will be added when avaiable; to: Comment on publications: this article is a preprint, the PMID will be added when available
Congenital hyperinsulinism v2.26 HK1 Sarah Leigh Tag non-coding-known-pathogenic tag was added to gene: HK1.
Tag Q3_22_rating tag was added to gene: HK1.
Tag Q3_22_MOI tag was added to gene: HK1.
Tag Q3_22_NHS_review tag was added to gene: HK1.
Congenital hyperinsulinism v2.26 HK1 Sarah Leigh edited their review of gene: HK1: Changed rating: GREEN
Congenital hyperinsulinism v2.26 HK1 Sarah Leigh changed review comment from: Fourteen non-coding de novo mutations affecting a 42bp conserved region, encompassed by a regulatory element in intron 2 of HK1 have been associated with congenital hyperinsulinism in the preprint https://doi.org/10.1101/2021.12.03.21267240; to: Fourteen non-coding de novo mutations affecting a 42bp conserved region, encompassed by a regulatory element in intron 2 of HK1 have been associated with congenital hyperinsulinism (Wakeling et al Nature Genetics 2022 (accepted for publication) medRxiv preprint doi: https://doi.org/10.1101/2021.12.03.21267240).
Congenital hyperinsulinism v2.26 HK1 Sarah Leigh edited their review of gene: HK1: Added comment: Fourteen non-coding de novo mutations affecting a 42bp conserved region, encompassed by a regulatory element in intron 2 of HK1 have been associated with congenital hyperinsulinism in the preprint https://doi.org/10.1101/2021.12.03.21267240; Changed rating: AMBER
Congenital hyperinsulinism v2.26 HK1 Sarah Leigh Classified gene: HK1 as Amber List (moderate evidence)
Congenital hyperinsulinism v2.26 HK1 Sarah Leigh Gene: hk1 has been classified as Amber List (Moderate Evidence).
Congenital hyperinsulinism v2.25 HK1 Sarah Leigh Phenotypes for gene: HK1 were changed from to Congenital hyperinsulinism
Congenital hyperinsulinism v2.24 HK1 Sarah Leigh Added comment: Comment on publications: this article is a preprint, the PMID will be added when avaiable
Congenital hyperinsulinism v2.24 HK1 Sarah Leigh Publications for gene: HK1 were set to
Congenital hyperinsulinism v2.15 HK1 Sarah Leigh Mode of inheritance for gene: HK1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital hyperinsulinism v2.12 HK1 Eleanor Williams reviewed gene: HK1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital hyperinsulinism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital hyperinsulinism v2.11 HK1 Eleanor Williams gene: HK1 was added
gene: HK1 was added to Congenital hyperinsulinism. Sources: Expert review
Mode of inheritance for gene: HK1 was set to