Pigmentary skin disordersGene: SPRED1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
LEGIUS SYNDROME; LGSS
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: SPRED1; 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 LEGIUS SYNDROME; LGSS for gene: SPRED1 Publications for gene SPRED1 were changed from to 17704776
Source London North GLH was added to SPRED1.
gene: SPRED1 was added gene: SPRED1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SPRED1 were set to Legius syndrome