Pulmonary fibrosis familial
Gene: ZCCHC8
Relatively limited amount, but good, evidence for gene-disease association. Good functional evidence for reduced telomerase activity in ZCCHC8−/− knockout cell lines, and heterozygous mouse model show development of TERC deficiency (PMID: 31488579). Some good segregation evidence for specific (c.586G>A) variant family with pulmonary fibrosis - (nine affected heterozygotes with telomere-related phenotypes incl PF) (PMID: 38375433)Created: 25 Mar 2024, 1:08 p.m. | Last Modified: 25 Mar 2024, 1:08 p.m.
Panel Version: 1.6
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pulmonary fibrosis (PF), telomere related
Publications
Variants in this GENE are reported as part of current diagnostic practice
This gene has been confirmed for this panel by the NHS Genomic Medicine Service and should be rated green.
Applicant review states, 'The Clinical Genetics and Genomics Laboratory, RBHT has been delivering this testing as a pilot study for in-house patients for the past 2 years. Testing has been as part of a large inherited respiratory conditions gene panel, with SNV and CNV analysis.'Created: 16 Feb 2022, 4:02 p.m. | Last Modified: 16 Feb 2022, 4:03 p.m.
Panel Version: 0.2
Publications for gene: ZCCHC8 were set to 31488579
gene: ZCCHC8 was added gene: ZCCHC8 was added to Pulmonary fibrosis familial. Sources: Expert Review Green Mode of inheritance for gene: ZCCHC8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZCCHC8 were set to 31488579 Phenotypes for gene: ZCCHC8 were set to Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5, OMIM:618674