| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Pulmonary Fibrosis_Interstitial Lung Disease v0.31 | FLNA | Zornitza Stark Marked gene: FLNA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v0.31 | FLNA | Zornitza Stark Gene: flna has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v0.31 | FLNA | Zornitza Stark Classified gene: FLNA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v0.31 | FLNA | Zornitza Stark Gene: flna has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v0.30 | FLNA |
Zornitza Stark gene: FLNA was added gene: FLNA was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: FLNA were set to 30547349 Phenotypes for gene: FLNA were set to Interstitial lung disease Review for gene: FLNA was set to GREEN Added comment: Variants in FLNA cause a wide spectrum of disease including skeletal dysplasia, neuronal migration abnormality, cardiovascular malformation, and intellectual disability. PMID 30547349 reviews 18 individuals with significant interstitial lung disease +/- other cardiac/neurological features. Sources: Literature |
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