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  2. Arthrogryposis
  3. SLC29A3
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Arthrogryposis

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)

Joint contractures are a feature.
Sources: Expert Review
Created: 11 Oct 2021, 10:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Histiocytosis-lymphadenopathy plus syndrome, MIM# 602782

Publications

Created: 11 Oct 2021, 10:10 a.m.

Panel version: 0.299

History Filter Activity

11 Oct 2021, 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).

11 Oct 2021, 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).

11 Oct 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC29A3 was added gene: SLC29A3 was added to Arthrogryposis. Sources: Expert Review Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC29A3 were set to 18940313; 19336477; 22238637 Phenotypes for gene: SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome, MIM# 602782 Review for gene: SLC29A3 was set to GREEN