| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Familial pulmonary fibrosis v1.15 | ZCCHC8 | Ivone Leong Tag watchlist tag was added to gene: ZCCHC8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial pulmonary fibrosis v1.15 | ZCCHC8 | Ivone Leong Classified gene: ZCCHC8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial pulmonary fibrosis v1.15 | ZCCHC8 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. There is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial pulmonary fibrosis v1.15 | ZCCHC8 | Ivone Leong Gene: zcchc8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial pulmonary fibrosis v1.14 | ZCCHC8 | Ivone Leong Phenotypes for gene: ZCCHC8 were changed from Pulmonary fibrosis to ?Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5, OMIM:618674 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial pulmonary fibrosis v1.13 | ZCCHC8 |
Zornitza Stark gene: ZCCHC8 was added gene: ZCCHC8 was added to Familial pulmonary fibrosis. Sources: Literature 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: Literature |
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