Familial pulmonary fibrosis
Gene: DOCK8
DOCK8 (dedicator of cytokinesis 8)
EnsemblGeneIds (GRCh38): ENSG00000107099
EnsemblGeneIds (GRCh37): ENSG00000107099
OMIM: 611432, Gene2Phenotype
DOCK8 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000107099
EnsemblGeneIds (GRCh37): ENSG00000107099
OMIM: 611432, Gene2Phenotype
DOCK8 is in 12 panels
2 reviews
Philip Molyneaux (Imperial College)
Primary inmmunodeficency and recurrent infections, not FibrosisCreated: 26 Apr 2017, 9:54 a.m.
Alice Gardham (Genomics England)
Comment when marking as ready: Recurrent chest infections and asthma rather than fibrosis -incorrect phenotypeCreated: 9 Feb 2017, 10:32 a.m.
Details
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- Pulmonary Disease
- OMIM
- 611432
- Clinvar variants
- Variants in DOCK8
- Penetrance
- Complete
- Panels with this gene
-
- Rare genetic inflammatory skin disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Familial pulmonary fibrosis
- Haematological malignancies cancer susceptibility
- Fetal anomalies
- Gastrointestinal epithelial barrier disorders
- COVID-19 research
- Severe multi-system atopic disease with high IgE
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Intellectual disability
- Haematological malignancies for rare disease
History Filter Activity
27 Apr 2017, Gel status: 1
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017
9 Feb 2017, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
29 Oct 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)DOCK8 was added to Familial pulmonary fibrosispanel. Sources: Emory Genetics Laboratory
29 Oct 2015, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)DOCK8 was created by ellenmcdonagh