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Skeletal dysplasia

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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).

Multiple families reported.
Created: 4 Dec 2021, 12:50 a.m. | Last Modified: 4 Dec 2021, 12:50 a.m.
Panel Version: 0.10076

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Histiocytosis-lymphadenopathy plus syndrome, MIM# 602782

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Histiocytosis-lymphadenopathy plus syndrome 602782
OMIM
612373
Clinvar variants
Variants in SLC29A3
Penetrance
None
Panels with this gene

History Filter Activity

17 Dec 2019, 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 Skeletal dysplasia. Sources: NHS GMS,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