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| Paediatric disorders - additional genes v7.12 | ISL1 | Achchuthan Shanmugasundram Classified gene: ISL1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v7.12 | ISL1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of monoallelic ISL1 variants with congenital heart disease. Hence, this gene should be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v7.12 | ISL1 | Achchuthan Shanmugasundram Gene: isl1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v7.11 | ISL1 | Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: ISL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v7.11 | ISL1 |
Achchuthan Shanmugasundram gene: ISL1 was added gene: ISL1 was added to Paediatric disorders - additional genes. Sources: ClinGen Mode of inheritance for gene: ISL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ISL1 were set to 25077177; 30390123; 31484864; 32820510; 34260301 Phenotypes for gene: ISL1 were set to congenital heart disease, MONDO:0005453 Review for gene: ISL1 was set to GREEN Added comment: Monoallelic variants in ISL1 have been associated with 'congenital heart disease' (MONDO:0005453) with a 'definitive' rating by the Congenital Heart Disease expert panel in ClinGen (https://search.clinicalgenome.org/CCID:008371). There are at least five unrelated patients reported with CHD and with heterozygous ISL1 variants (including gene deletion, nonsense and promotor variants). This gene has not yet been associated with relevant phenotypes in OMIM or Gene2Phenotype. Sources: ClinGen |
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