| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Pulmonary fibrosis familial v1.7 | ZCCHC8 | Arina Puzriakova Publications for gene: ZCCHC8 were set to 31488579 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v1.6 | ZCCHC8 | Matthew Edwards reviewed gene: ZCCHC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 31488579, 38375433; Phenotypes: Pulmonary fibrosis (PF), telomere related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v0.2 | ZCCHC8 |
Arina Puzriakova changed review comment from: 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.; to: 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.' |
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| Pulmonary fibrosis familial v0.2 | ZCCHC8 | Arina Puzriakova reviewed gene: ZCCHC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v0.1 | ZCCHC8 |
Arina Puzriakova 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 |
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