Autoinflammatory Disorders
Gene: SLC29A3
The histiocytosis-lymphadenopathy plus syndrome comprises features of 4 histiocytic disorders previously thought to be distinct: Faisalabad histiocytosis (FHC), sinus histiocytosis with massive lymphadenopathy (SHML), H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome (PHID).
Multiple families reported.Created: 15 Oct 2022, 6:49 a.m. | Last Modified: 15 Oct 2022, 6:49 a.m.
Panel Version: 0.184
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Histiocytosis-lymphadenopathy plus syndrome, MIM# 602782
Publications
Gene: slc29a3 has been classified as Green List (High Evidence).
Phenotypes for gene: SLC29A3 were changed from to Histiocytosis-lymphadenopathy plus syndrome, MIM# 602782
Publications for gene: SLC29A3 were set to
Mode of inheritance for gene: SLC29A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: SLC29A3 was added gene: SLC29A3 was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: SLC29A3 was set to Unknown