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Fetal anomalies

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

2 reviews

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

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

no ID as part of phenotype.
Created: 10 Dec 2019, 11 p.m. | Last Modified: 10 Dec 2019, 11 p.m.
Panel Version: 0.1247

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Histiocytosis-lymphadenopathy plus syndrome; OMIM #602782

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert Review
  • Expert list
Phenotypes
  • H syndrome, MONDO:0011273
  • Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782
OMIM
612373
Clinvar variants
Variants in SLC29A3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jan 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).

28 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC29A3 were set to

28 Jan 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).

24 Oct 2021, Gel status: 2

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 Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC29A3 were set to H syndrome, MONDO:0011273; Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782