Nucleotide metabolism disorders
Gene: SLC29A3EnsemblGeneIds (GRCh38): ENSG00000198246
EnsemblGeneIds (GRCh37): ENSG00000198246
OMIM: 612373, Gene2Phenotype
SLC29A3 is in 13 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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
- Victorian Clinical Genetics Services
- Phenotypes
-
- Disorders of ectonucleotide and nucleic acid metabolism
- H syndrome MONDO:0011273
- OMIM
- 612373
- Clinvar variants
- Variants in SLC29A3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Skeletal Dysplasia_Fetal
- Mackenzie's Mission_Reproductive Carrier Screening
- Skeletal dysplasia
- Nucleotide metabolism disorders
- Fetal anomalies
- Prepair 1000+
- Monogenic Diabetes
- Arthrogryposis
- Mendeliome
- Autoinflammatory Disorders
- Vasculitis
- Intellectual disability syndromic and non-syndromic
- Stickler Syndrome
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: SLC29A3 was added gene: SLC29A3 was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC29A3 were set to 22238637; 18940313; 19336477 Phenotypes for gene: SLC29A3 were set to Disorders of ectonucleotide and nucleic acid metabolism; H syndrome MONDO:0011273