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Arthrogryposis

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

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added to this panel by Lucy Jackson (NHS). Fixed flexion contractures of the fingers, toes and elbows have been reported in FHC and H-syndrome. Sufficient unrelated cases of joint contractures which can be a presenting feature to rate as Green at the next GMS panel update.
Created: 13 Oct 2021, 10:45 a.m. | Last Modified: 13 Oct 2021, 10:45 a.m.
Panel Version: 3.125

Lucy Jackson (NHS)

Green List (high evidence)

Sources: Literature
Created: 8 Oct 2021, 11:19 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Histiocytosis-lymphadenopathy plus syndrome

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

13 Oct 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: SLC29A3 were set to

13 Oct 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q4_21_rating tag was added to gene: SLC29A3.

13 Oct 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

13 Oct 2021, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SLC29A3 were changed from Histiocytosis-lymphadenopathy plus syndrome to Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782

13 Oct 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q4_21_NHS_review tag was added to gene: SLC29A3.

8 Oct 2021, Gel status: 0

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

Lucy Jackson (NHS)

gene: SLC29A3 was added gene: SLC29A3 was added to Arthrogryposis. Sources: 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 Review for gene: SLC29A3 was set to GREEN gene: SLC29A3 was marked as current diagnostic