This Panel is marked as Internal
Congenital anaemias
Gene: SLC19A2
SLC19A2 (solute carrier family 19 member 2)
EnsemblGeneIds (GRCh38): ENSG00000117479
EnsemblGeneIds (GRCh37): ENSG00000117479
OMIM: 603941, Gene2Phenotype
SLC19A2 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000117479
EnsemblGeneIds (GRCh37): ENSG00000117479
OMIM: 603941, Gene2Phenotype
SLC19A2 is in 16 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Thiamine-Responsive Megaloblastic Anemia
- Thiamine‐responsivemegaloblasticanemiasyndrome,249270
- Thiamine responsivemegaloblasticanemiasyndrome,249270
- OMIM
- 603941
- Clinvar variants
- Variants in SLC19A2
- Penetrance
- Complete
- Panels with this gene
-
- Likely inborn error of metabolism
- Monogenic hearing loss
- Rare anaemia
- Cytopenias and congenital anaemias
- Neonatal diabetes
- Monogenic diabetes
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Unexplained kidney failure in young people
- Possible mitochondrial disorder - nuclear genes
- Familial diabetes
- Proteinuric renal disease
- Multi-organ autoimmune diabetes
- Pyruvate dehydrogenase (PDH) deficiency
History Filter Activity
30 Sep 2015, Gel status: 2
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal
30 Sep 2015, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)SLC19A2 was added to Congenital anaemiaspanel. Source: Radboud University Medical Center, Nijmegen
30 Sep 2015, Gel status: 2
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal
30 Sep 2015, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)SLC19A2 was added to Congenital anaemiaspanel. Source: Illumina TruGenome Clinical Sequencing Services
28 Apr 2015, Gel status: 2
Added New Source
GEL ()SLC19A2 was added to Congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen
28 Apr 2015, Gel status: 1
Added New Source
GEL ()SLC19A2 was added to Congenital anaemiaspanel. Sources: Illumina TruGenome Clinical Sequencing Services