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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. |
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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) |
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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. |
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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 |