Skeletal dysplasia
Gene: SLC29A3EnsemblGeneIds (GRCh38): ENSG00000198246
EnsemblGeneIds (GRCh37): ENSG00000198246
OMIM: 612373, Gene2Phenotype
SLC29A3 is in 13 panels
4 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
Osteopetrosis and related disorders SD gp. >3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Histiocytosis-lymphadenopathy plus syndrome 602782
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: SLC29A3; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 a.m.
Sarah Leigh (Genomics England Curator)
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 1:09 p.m.
Ana Beleza (Bristol Regional Genetics Service)
Tier 1Created: 17 Jun 2016, 8:08 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Histiocytosis-lymphadenopathy plus syndrome 602782; Campeau PM et al. Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis. Hum Mol Genet. 2012 Nov 15, 21(22):4904-9.
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782
- OMIM
- 612373
- Clinvar variants
- Variants in SLC29A3
- Penetrance
- Complete
- 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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SLC29A3 were changed from Histiocytosis-lymphadenopathy plus syndrome 602782 to Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes Histiocytosis-lymphadenopathy plus syndrome 602782 for gene: SLC29A3
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to SLC29A3. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 9th August 2016
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome 602782
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for SLC29A3 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Sarah Leigh (Genomics England Curator)SLC29A3 was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)SLC29A3 was added to Unexplained skeletal dysplasiapanel. Sources: