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Prepair 1000+

Gene: SLC29A3

Green List (high evidence)

SLC29A3 (solute carrier family 29 member 3)
EnsemblGeneIds (GRCh38): ENSG00000198246
EnsemblGeneIds (GRCh37): ENSG00000198246
OMIM: 612373, Gene2Phenotype
SLC29A3 is in 13 panels

1 review

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

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).

Genotype-phenotype correlation is unclear due to intrafamilial phenotypic variability:
- Same chet variants (Gly427Ser + Gly437Arg) in two affected sisters, one with classical PHID phenotype, one with PHID + H syndromes (PMID: 20619369).
- Hom Arg363Gln in a family, 4 affected members presented with clinical features consistent with the classical H syndrome phenotype, while their cousin’s features were in keeping with Familial Rosai-Dorfman disease diagnosis with a previously undescribed cutaneous Rosai-Dorfman disease (PMID: 34657628).
Created: 20 Jan 2025, 9:28 p.m. | Last Modified: 20 Jan 2025, 9:28 p.m.
Panel Version: 1.1257

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Histiocytosis-lymphadenopathy plus syndrome MIM#602782

Publications

History Filter Activity

24 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc29a3 has been classified as Green List (High Evidence).

24 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC29A3 were changed from Histiocytosis-lymphadenopathy plus syndrome, 602782 (3) to Histiocytosis-lymphadenopathy plus syndrome MIM#602782

24 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC29A3 were set to

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC29A3 was added gene: SLC29A3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome, 602782 (3)