Rare genetic inflammatory skin disorders

Gene: DOCK8

Green List (high evidence)

DOCK8 (dedicator of cytokinesis 8)
EnsemblGeneIds (GRCh38): ENSG00000107099
EnsemblGeneIds (GRCh37): ENSG00000107099
OMIM: 611432, Gene2Phenotype
DOCK8 is in 13 panels

2 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyper-IgE recurrent infection syndrome, autosomal recessive

Publications

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

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

History Filter Activity

12 Dec 2019, Gel status: 3

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

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to DOCK8.

31 Jan 2019, Gel status: 4

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