Rare genetic inflammatory skin disorders
Gene: DOCK8EnsemblGeneIds (GRCh38): ENSG00000107099
EnsemblGeneIds (GRCh37): ENSG00000107099
OMIM: 611432, Gene2Phenotype
DOCK8 is in 12 panels
2 reviews
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyper-IgE recurrent infection syndrome, autosomal recessive
Publications
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: DOCK8; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 31 Jan 2019, 2:02 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Hyper-IgE recurrent infection syndrome, autosomal recessive, OMIM:243700
- OMIM
- 611432
- Clinvar variants
- Variants in DOCK8
- Penetrance
- None
- Publications
- Panels with this gene
-
- Gastrointestinal epithelial barrier disorders
- Severe multi-system atopic disease with high IgE
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Rare genetic inflammatory skin disorders
- Haematological malignancies for rare disease
- Haematological malignancies cancer susceptibility
- Intellectual disability
- Familial pulmonary fibrosis
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- DDG2P
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: DOCK8 were changed from Hyper-IgE recurrent infection syndrome, autosomal recessive to Hyper-IgE recurrent infection syndrome, autosomal recessive, OMIM:243700
Set Phenotypes, Set publications
Catherine Snow (Genomics England)Added phenotypes Hyper-IgE recurrent infection syndrome, autosomal recessive for gene: DOCK8 Publications for gene DOCK8 were changed from to 19776401
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to DOCK8.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: DOCK8 was added gene: DOCK8 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: DOCK8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DOCK8 were set to Hyper-IgE recurrent infection syndrome, autosomal recessive