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  3. ZCCHC8
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Familial pulmonary fibrosis

Gene: ZCCHC8

Amber List (moderate evidence)
ZCCHC8 (zinc finger CCHC-type containing 8)
EnsemblGeneIds (GRCh38): ENSG00000033030
EnsemblGeneIds (GRCh37): ENSG00000033030
OMIM: 616381, Gene2Phenotype
ZCCHC8 is in 4 panels

2 reviews

Ivone Leong (Genomics England Curator)

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.
Created: 5 May 2021, 3:48 p.m. | Last Modified: 5 May 2021, 3:48 p.m.
Panel Version: 1.15
Created: 5 May 2021, 3:48 p.m.
Last Modified: 5 May 2021, 3:48 p.m.
Panel version: 1.15

Zornitza Stark (Australian Genomics)

I don't know

A missense variant (P186L) segregates over 3 generations in a single family, and supporting in vitro assays and mouse model.
Sources: Literature
Created: 15 Apr 2021, 10:58 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pulmonary fibrosis

Publications

Created: 15 Apr 2021, 10:58 a.m.

Panel version: 1.13

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • ?Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5, OMIM:618674
Tags
watchlist
OMIM
616381
Clinvar variants
Variants in ZCCHC8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 May 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag watchlist tag was added to gene: ZCCHC8.

5 May 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: zcchc8 has been classified as Amber List (Moderate Evidence).

5 May 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ZCCHC8 were changed from Pulmonary fibrosis to ?Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5, OMIM:618674

15 Apr 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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