| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Pulmonary Fibrosis_Interstitial Lung Disease v0.197 | NDUFAF6 | Zornitza Stark Marked gene: NDUFAF6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v0.197 | NDUFAF6 | Zornitza Stark Gene: ndufaf6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v0.197 | NDUFAF6 | Zornitza Stark Classified gene: NDUFAF6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v0.197 | NDUFAF6 | Zornitza Stark Gene: ndufaf6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v0.196 | NDUFAF6 |
Zornitza Stark gene: NDUFAF6 was added gene: NDUFAF6 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature founder tags were added to gene: NDUFAF6. Mode of inheritance for gene: NDUFAF6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFAF6 were set to 27466185 Phenotypes for gene: NDUFAF6 were set to Fanconi renotubular syndrome 5, MIM# 618913 Review for gene: NDUFAF6 was set to AMBER Added comment: PMID 27466185 reports 12 individuals from 8 unrelated families with biallelic intronic NDUFAF6 variants presenting with Acadian variant of Fanconi syndrome (renal Fanconi syndrome from birth, progressive chronic kidney disease, pulmonary interstitial fibrosis). Supportive functional data. Founder variant. No evidence other variants in this gene cause a lung phenotype. Sources: Literature |
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