| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Pulmonary Fibrosis_Interstitial Lung Disease v0.53 | ZCCHC8 | Bryony Thompson Phenotypes for gene: ZCCHC8 were changed from Pulmonary fibrosis to Pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0000148 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v0.52 | ZCCHC8 | Bryony Thompson edited their review of gene: ZCCHC8: Changed phenotypes: Pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0000148 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v0.23 | ZCCHC8 | Bryony Thompson Marked gene: ZCCHC8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v0.23 | ZCCHC8 | Bryony Thompson Gene: zcchc8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v0.23 | ZCCHC8 | Bryony Thompson Classified gene: ZCCHC8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v0.23 | ZCCHC8 | Bryony Thompson Gene: zcchc8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v0.22 | ZCCHC8 |
Bryony Thompson gene: ZCCHC8 was added gene: ZCCHC8 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Other Mode of inheritance for gene: ZCCHC8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZCCHC8 were set to 31488579 Phenotypes for gene: ZCCHC8 were set to Pulmonary fibrosis Review for gene: ZCCHC8 was set to AMBER Added comment: A missense variant (P186L) segregates over 3 generations in a single family, and supporting in vitro assays and mouse model. Sources: Other |
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