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  2. Stickler Syndrome
  3. SLC29A3
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Stickler Syndrome

Gene: SLC29A3

Amber List (moderate 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)

I don't know

Partial overlap.
Created: 24 Mar 2023, 3:16 a.m. | Last Modified: 24 Mar 2023, 3:16 a.m.
Panel Version: 1.5

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Histiocytosis-lymphadenopathy plus syndrome - MIM#602782

Created: 24 Mar 2023, 3:16 a.m.
Last Modified: 24 Mar 2023, 3:16 a.m.
Panel version: 1.5

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Phenotypic features can overlap with Stickler syndrome (presentation VCGS Dysmorphology meeting 24.3.23, suggested adding gene to Stickler panel)
Sources: Expert list, Literature
Created: 23 Mar 2023, 10:50 p.m. | Last Modified: 23 Mar 2023, 10:51 p.m.
Panel Version: 1.5

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Histiocytosis-lymphadenopathy plus syndrome - MIM#602782

Created: 23 Mar 2023, 10:50 p.m.
Last Modified: 23 Mar 2023, 10:51 p.m.
Panel version: 1.5

Details

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

History Filter Activity

24 Mar 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc29a3 has been classified as Amber List (Moderate Evidence).

24 Mar 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc29a3 has been classified as Amber List (Moderate Evidence).

23 Mar 2023, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

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