Familial pulmonary fibrosis
Gene: ZCCHC8Comment 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.Created: 5 May 2021, 3:48 p.m. | Last Modified: 5 May 2021, 3:48 p.m.
Panel Version: 1.15
A missense variant (P186L) segregates over 3 generations in a single family, and supporting in vitro assays and mouse model.
Sources: LiteratureCreated: 15 Apr 2021, 10:58 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pulmonary fibrosis
Publications
Tag watchlist tag was added to gene: ZCCHC8.
Gene: zcchc8 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: ZCCHC8 were changed from Pulmonary fibrosis to ?Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5, OMIM:618674
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