| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Cardiomyopathy_Paediatric v1.12 | KLHL24 | Zornitza Stark Marked gene: KLHL24 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.12 | KLHL24 | Zornitza Stark Gene: klhl24 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.12 | KLHL24 | Zornitza Stark Classified gene: KLHL24 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.12 | KLHL24 | Zornitza Stark Gene: klhl24 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.11 | KLHL24 |
Zornitza Stark gene: KLHL24 was added gene: KLHL24 was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene: KLHL24 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: KLHL24 were set to 41823911; 41258845; 40176835; 37191012; 34740256; 34688992; 32870709; 31649980; 30715372; 30120936; 29779254 Phenotypes for gene: KLHL24 were set to Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies MIM#620236; Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy, MIM# 617294 Review for gene: KLHL24 was set to GREEN Added comment: PMID 41258845, PMID 31649980, PMID 37191012, PMID 34740256, PMID 34688992, PMID 30715372, PMID 41823911, PMID 40176835 and PMID 32870709 report heterozygous KLKL24 variants causing early‑onset cardiomyopathy in association with EB. Autosomal dominant gain‑of‑function start‑codon variants are found in 34 unrelated families (≥62 patients) with dilated or arrhythmogenic cardiomyopathy together with epidermolysis bullosa simplex. Autosomal recessive loss‑of‑function variants are found in five unrelated families (≥15 patients) with childhood‑onset hypertrophic cardiomyopathy. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||