Rare genetic inflammatory skin disordersGene: NOD2
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BLAU SYNDROME; BLAUS
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: NOD2; 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.
Phenotypes for gene: NOD2 were changed from Blau syndrome; BLAU SYNDROME; BLAUS to Blau syndrome, OMIM:186580
Added phenotypes BLAUS; BLAU SYNDROME for gene: NOD2 Publications for gene NOD2 were changed from to 11528384
Source London North GLH was added to NOD2.
gene: NOD2 was added gene: NOD2 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NOD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NOD2 were set to Blau syndrome