Arthrogryposis
Gene: SLC29A3EnsemblGeneIds (GRCh38): ENSG00000198246
EnsemblGeneIds (GRCh37): ENSG00000198246
OMIM: 612373, Gene2Phenotype
SLC29A3 is in 13 panels
3 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.Created: 11 Mar 2022, 1:41 p.m. | Last Modified: 11 Mar 2022, 1:41 p.m.
Panel Version: 3.154
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)
Sources: LiteratureCreated: 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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782
- OMIM
- 612373
- Clinvar variants
- Variants in SLC29A3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Hypogonadotropic hypogonadism
- Hypogonadotropic hypogonadism (GMS)
- Arthrogryposis
- Monogenic hearing loss
- Fetal anomalies
- Pigmentary skin disorders
- COVID-19 research
- Skeletal dysplasia
- Familial diabetes
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Autoinflammatory disorders
- Monogenic diabetes
History Filter Activity
Removed Tag, Removed Tag
Ivone Leong (Genomics England Curator)Tag Q4_21_rating was removed from gene: SLC29A3. Tag Q4_21_NHS_review was removed from gene: SLC29A3.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to SLC29A3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: SLC29A3 were set to
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q4_21_rating tag was added to gene: SLC29A3.
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: slc29a3 has been classified as Amber List (Moderate Evidence).
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
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q4_21_NHS_review tag was added to gene: SLC29A3.
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