Gastrointestinal epithelial barrier disorders
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
3 reviews
Olivia Niblock (Genomics England Curator)
Comment on list classification: Expert review and previous curation have highlighted that variants in this gene appear to be linked to early onset inflammatory bowel disease and therefore this gene will be promoted to greenCreated: 26 Jul 2018, 11:43 a.m.
Neil shah (GOSH)
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM and G2P / DD. Present on UKGTN Very Early Onset Inflammatory Bowel Disease 40 Gene Panel. At least six variants reported in four homozygous cases and one compound heterozygote.
Created: 6 Sep 2016, 7:01 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Inflammatory Bowel Disease (Very Early Onset)
- OMIM
- 611432
- Clinvar variants
- Variants in DOCK8
- Penetrance
- None
- Panels with this gene
-
- Gastrointestinal epithelial barrier disorders
- Fetal anomalies
- Severe multi-system atopic disease with high IgE
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Rare genetic inflammatory skin disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Haematological malignancies for rare disease
- Haematological malignancies cancer susceptibility
- Intellectual disability
- DDG2P
- Familial pulmonary fibrosis
- COVID-19 research
History Filter Activity
26 Jul 2018, Gel status: 3
Entity classified by Genomics England curator
Olivia Niblock (Genomics England Curator)Gene: dock8 has been classified as Green List (High Evidence).
26 Jul 2018, Gel status: 1
Set mode of inheritance
Olivia Niblock (Genomics England Curator)Mode of inheritance for gene: DOCK8 was changed from to BIALLELIC, autosomal or pseudoautosomal
25 Jul 2018, Gel status: 1
Panel promoted to version 1.0
Olivia Niblock (Genomics England Curator)Panel reviews have been assessed and internal clinical team opinion has been sought on this panel, particularly to rule out incidental findings. Panel has been revised through expert review, internal review and literature research. 25/07/2018
17 Apr 2018, Gel status: 1
Added New Source
Olivia Niblock (Genomics England Curator)DOCK8 was added to Gastrointestinal epithelial barrier disorders panel. Sources: Expert list
17 Apr 2018, Gel status: 1
Created
Olivia Niblock (Genomics England Curator)DOCK8 was created by Olivia Niblock