Pigmentary skin disordersGene: SLC29A3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME
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: SLC29A3; 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.
Phenotypes for gene: SLC29A3 were changed from Histiocytosis-lymphadenopathy plus syndrome/H disease; HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME to Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782
Added phenotypes HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME for gene: SLC29A3 Publications for gene SLC29A3 were changed from to 18940313
Source London North GLH was added to SLC29A3.
gene: SLC29A3 was added gene: SLC29A3 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome/H disease