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  2. Skeletal Dysplasia_Fetal
  3. SLC29A3
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Skeletal Dysplasia_Fetal

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

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Intrauterine fractures of long bones and clavicles described.
Sources: Literature, Expert list
Created: 27 Sep 2022, 4:09 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Histiocytosis-lymphadenopathy plus syndrome - MIM#602782

Publications

Created: 27 Sep 2022, 4:09 a.m.

Panel version: 0.121

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Literature
Phenotypes
  • Histiocytosis-lymphadenopathy plus syndrome - MIM#602782
OMIM
612373
Clinvar variants
Variants in SLC29A3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Oct 2022, 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).

5 Oct 2022, 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).

27 Sep 2022, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: SLC29A3 was added gene: SLC29A3 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC29A3 were set to 16155931 Phenotypes for gene: SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome - MIM#602782 Review for gene: SLC29A3 was set to GREEN