Rare genetic inflammatory skin disordersGene: DOCK8
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Hyper-IgE recurrent infection syndrome, autosomal recessive
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
Added phenotypes Hyper-IgE recurrent infection syndrome, autosomal recessive for gene: DOCK8 Publications for gene DOCK8 were changed from to 19776401
Source London North GLH was added to DOCK8.
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