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  3. ZCCHC8
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Bone Marrow Failure

Gene: ZCCHC8

Green List (high evidence)
ZCCHC8 (zinc finger CCHC-type containing 8)
EnsemblGeneIds (GRCh38): ENSG00000033030
EnsemblGeneIds (GRCh37): ENSG00000033030
OMIM: 616381, Gene2Phenotype
ZCCHC8 is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Variants in this gene have been reported in at least 3 adult probands in 2 publications (PMIDs:31488579, 38375433). Variants in this gene segregated with disease in 11 additional family members. The individuals carrying these variants presented with pulmonary fibrosis with an adult onset and had short telomeres. In addition, some of the individuals carrying the variant had bone marrow failure or hematologic disease.

Supportive mouse model and other functional data.
Created: 12 Nov 2024, 3:39 a.m. | Last Modified: 12 Nov 2024, 3:39 a.m.
Panel Version: 1.102

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 MONDO:0032865

Publications

Created: 12 Nov 2024, 3:39 a.m.
Last Modified: 12 Nov 2024, 3:39 a.m.
Panel version: 1.102

Bryony Thompson (Royal Melbourne Hospital)

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: 4 May 2023, 10:18 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0000148

Publications

Created: 4 May 2023, 10:18 a.m.

Panel version: 1.39

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0000148
OMIM
616381
Clinvar variants
Variants in ZCCHC8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Nov 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ZCCHC8 were set to 31488579; 38375433

12 Nov 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ZCCHC8 were set to 31488579

12 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zcchc8 has been classified as Green List (High Evidence).

4 May 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

4 May 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

4 May 2023, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ZCCHC8 was added gene: ZCCHC8 was added to Bone Marrow Failure. 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 and/or bone marrow failure, telomere-related MONDO:0000148 Review for gene: ZCCHC8 was set to AMBER