Pigmentary skin disordersGene: OSMR
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1; PLCA1
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: OSMR; 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, 11:31 a.m.
Added phenotypes PLCA1; AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1 for gene: OSMR Publications for gene OSMR were changed from to 18179886
Source London North GLH was added to OSMR.
gene: OSMR was added gene: OSMR was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: OSMR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: OSMR were set to Amyloidosis cutis