Activity
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9 actions
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| Hypertrophic cardiomyopathy v5.22 | KLHL24 | Arina Puzriakova reviewed gene: KLHL24: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v5.18 | KLHL24 |
Arina Puzriakova Tag Q3_24_promote_green was removed from gene: KLHL24. Tag Q3_24_NHS_review was removed from gene: KLHL24. |
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| Hypertrophic cardiomyopathy v5.18 | KLHL24 |
Arina Puzriakova Source Expert Review Green was added to KLHL24. Source NHS GMS was added to KLHL24. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hypertrophic cardiomyopathy v4.16 | KLHL24 |
Sarah Leigh Tag Q3_24_promote_green tag was added to gene: KLHL24. Tag Q3_24_NHS_review tag was added to gene: KLHL24. |
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| Hypertrophic cardiomyopathy v4.16 | KLHL24 | Sarah Leigh reviewed gene: KLHL24: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v4.16 | KLHL24 | Sarah Leigh Phenotypes for gene: KLHL24 were changed from Hypertrophic cardiomyopathy; Heart failure; arrhythmias; Risk of sudden death to Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, OMIM:620236; cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, MONDO:0859372 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v4.15 | KLHL24 | Sarah Leigh Classified gene: KLHL24 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v4.15 | KLHL24 | Sarah Leigh Gene: klhl24 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v4.13 | KLHL24 |
Nour Elkhateeb gene: KLHL24 was added gene: KLHL24 was added to Hypertrophic cardiomyopathy. Sources: Literature Mode of inheritance for gene: KLHL24 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KLHL24 were set to 30715372; 32870709; 36672924 Phenotypes for gene: KLHL24 were set to Hypertrophic cardiomyopathy; Heart failure; arrhythmias; Risk of sudden death Review for gene: KLHL24 was set to GREEN Added comment: KLHL24 variants have been reported in relation to autosomal recessive hypertrophic cardiomyopathy in several individuals from four families in three publications (PMIDs: 30715372, 32870709, 36672924) with variants including missense and nonsense variants. The mechanism of pathogenicity is reported to be loss of function. This gene-disease relationship is also supported by expression data (PMID: 23715323). Sources: Literature |
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