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| Cardiomyopathy_Paediatric v1.237 | FHL1 | Zornitza Stark Marked gene: FHL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.237 | FHL1 | Zornitza Stark Gene: fhl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.237 | FHL1 | Zornitza Stark Phenotypes for gene: FHL1 were changed from to Emery-Dreifuss muscular dystrophy 6, X-linked, MIM# 300696 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.236 | FHL1 | Zornitza Stark Publications for gene: FHL1 were set to http://www.ncbi.nlm.nih.gov/pubmed/22523091 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.235 | FHL1 | Zornitza Stark edited their review of gene: FHL1: Added comment: PMID 42304238: reviewed 114 patients with pathogenic or likely pathogenic FHL1 variants. Most patients were male (69%), with a median age of onset of 18 (IQR 10-26) years. Cardiac involvement consisted in left ventricular hypertrophy (56%), followed by arrhythmias (51%), and conduction abnormalities (8%). The incidence of sudden cardiac death was 7%, and heart transplantation was reported in 5% of patients.; Changed publications: 42304238; Changed phenotypes: Emery-Dreifuss muscular dystrophy 6, X-linked, MIM# 300696 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.0 | FHL1 | Gene migrated from ENSG00000022267 to ENSG00000022267 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.0 | FHL1 |
Zornitza Stark gene: FHL1 was added gene: FHL1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: FHL1 were set to http://www.ncbi.nlm.nih.gov/pubmed/22523091 |
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