Cytopenias and congenital anaemias
Gene: SLC19A2EnsemblGeneIds (GRCh38): ENSG00000117479
EnsemblGeneIds (GRCh37): ENSG00000117479
OMIM: 603941, Gene2Phenotype
SLC19A2 is in 16 panels
1 review
Helen Brittain (Genomics England Curator)
Comment when marking as ready: 6 families reported.Created: 28 Feb 2017, 2:10 p.m.
6 separate families with biallelic mutations in above PMID. Presentation with megaloblastic anaemia, diabetes and deafness. Potentially (but variably) treatable with thiamine. Appropriate for inclusion.Created: 28 Feb 2017, 11:39 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Thiamine-responsive megaloblastic anemia syndrome 249270
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Thiamine-Responsive Megaloblastic Anemia syndrome 249270
- Tags
- OMIM
- 603941
- Clinvar variants
- Variants in SLC19A2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Unexplained kidney failure in young people
- Mitochondrial disorders
- Rare anaemia
- Familial diabetes
- Neonatal diabetes
- Pyruvate dehydrogenase (PDH) deficiency
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
- Multi-organ autoimmune diabetes
- Monogenic hearing loss
- Proteinuric renal disease
- Undiagnosed metabolic disorders
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for SLC19A2 were set to Thiamine-Responsive Megaloblastic Anemia syndrome 249270
Set publications
Helen Brittain (Genomics England Curator)Publications for SLC19A2 were set to 10391221
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)SLC19A2 was added to Cytopaenias and congenital anaemiaspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Created
Louise Daugherty (Genomics England Curator)SLC19A2 was created by LouiseD