Immunological disorders_SuperPanel_PanelAppAustralia
Gene: SLC29A3EnsemblGeneIds (GRCh38): ENSG00000198246
EnsemblGeneIds (GRCh37): ENSG00000198246
OMIM: 612373, Gene2Phenotype
SLC29A3 is in 13 panels
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Details
- Mode of Inheritance
- Unknown
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Melbourne Genomics Health Alliance Immunology Flagship
- OMIM
- 612373
- Clinvar variants
- Variants in SLC29A3
- Penetrance
- None
- Panels with this gene
-
- Monogenic hearing loss
- Monogenic diabetes
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Autoinflammatory disorders
- Skeletal dysplasia
- Arthrogryposis
- Pigmentary skin disorders
- Hypogonadotropic hypogonadism
- Familial diabetes
- Hypogonadotropic hypogonadism (GMS)
- COVID-19 research
- Fetal anomalies
History Filter Activity
Created, Added New Source, Set mode of inheritance
Rebecca Foulger (Genomics England curator)gene: SLC29A3 was added gene: SLC29A3 was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Melbourne Genomics Health Alliance Immunology Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC29A3 was set to Unknown