This Panel is marked as Deleted
GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: SLC29A3
SLC29A3 (solute carrier family 29 member 3)
EnsemblGeneIds (GRCh38): ENSG00000198246
EnsemblGeneIds (GRCh37): ENSG00000198246
OMIM: 612373, Gene2Phenotype
SLC29A3 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000198246
EnsemblGeneIds (GRCh37): ENSG00000198246
OMIM: 612373, Gene2Phenotype
SLC29A3 is in 13 panels
1 review
Tracy Lester (Genetics laboratory, Oxford UK)
Osteopetrosis and related disorders SD gp. >3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Histiocytosis-lymphadenopathy plus syndrome 602782
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Histiocytosis-lymphadenopathy plus syndrome 602782
- OMIM
- 612373
- Clinvar variants
- Variants in SLC29A3
- Penetrance
- None
- Panels with this gene
-
- Autoinflammatory disorders
- Monogenic hearing loss
- Pigmentary skin disorders
- Hypogonadotropic hypogonadism
- Familial diabetes
- Monogenic diabetes
- Hypogonadotropic hypogonadism (GMS)
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- Skeletal dysplasia
- Arthrogryposis
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
History Filter Activity
6 Mar 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: SLC29A3 was added gene: SLC29A3 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome 602782