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| Mendeliome v1.3657 | KLF13 | Krithika Murali Marked gene: KLF13 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3657 | KLF13 | Krithika Murali Gene: klf13 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3657 | KLF13 | Krithika Murali Classified gene: KLF13 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3657 | KLF13 | Krithika Murali Gene: klf13 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3656 | KLF13 |
Krithika Murali gene: KLF13 was added gene: KLF13 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: KLF13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KLF13 were set to Congenital heart disease MONDO:0005453 - KLF13-related; Dilated cardiomyopathy - MONDO:0005021, KLF13-related Review for gene: KLF13 was set to AMBER Added comment: Curated by ClinGen as Moderate for association with congenital heart disease (12/2/2024) PMID: 33215447 Wang et al 2020 - novel heterozygous variation, NM_015995.3: c.370G>T; p.(Glu124*), co-segregating with congenital heart disease in a 3-generation Chinese family. Supportive functional evidence. PMID: 35369534 Abhinav et al 2022 - NM_015995.3: c.430G>T; p.(Glu144*) co-segregated with congenital heart disease in a Han Chinese family. Supportive functional evidence. PMID: 32293321 Li et al 2020 - Two heterozygous missense variants in two unrelated patients with congenital heart disease. However, they have much higher gnomAD frequencies - c.487C > T (P163S) (11 hets gnomAD v4) and c.467G > A (S156N)(22 hets gnomAD v4). No segregation information and the functional evidence was not convincing. This paper was included as genetic evidence in the ClinGen curation. Monoallelic variants have also been reported in association with adult-onset DCM. PMID 36346048 Guo et al 2022 – Identified heterozygous KLF13 gene variants co-segregating with adult-onset DCM in 3 unrelated families - c.430G>T (p.E144X); c.580G>T (p.E194X) and c.595T>C (p.C199R). Functional studies support disrupted synergistic transactivation between mutant KLF13 and target genes ACTC1, MYH7 and GATA4. Monoallelic variants in KLF13 have also been associated with congenital heart disease. Of note, 2 individuals from Family 1 and 1 individual from Family 2 also had an atrial septal defect. PMID 41201692 Tang et al 2025 – report a novel heterozygous truncating KLF13 mutation, i.e., NM_015995.3:c.534 C>G;p.(Tyr178) in two unrelated patients with adult onset DCM (42-year-old male patient and a 51-year old female case 51 years old). Variant was absent in healthy controls. No segregation evidence. Supportive functional evidence. More evidence including segregation information, genotype-phenotype correlation between DCM and/or congenital heart disease and ascertainment from diverse ancestries required. Sources: Literature |
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