Monogenic Diabetes
Gene: SLC19A2EnsemblGeneIds (GRCh38): ENSG00000117479
EnsemblGeneIds (GRCh37): ENSG00000117479
OMIM: 603941, Gene2Phenotype
SLC19A2 is in 14 panels
1 review
Hali Van Niel (University of Melbourne)
Well established gene disease association for thiamine-responsive megaloblastic anemia syndrome where diabetes mellitus is part of phenotype
3 patients with neonatal diabetes and SLC19A2 variants (PMID: 22369132) one patient with infantile onset diabetes (PMID:35114785)Created: 30 Apr 2024, 1:54 a.m. | Last Modified: 30 Apr 2024, 1:54 a.m.
Panel Version: 0.52
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
thiamine-responsive megaloblastic anemia syndrome MONDO:0009575; neonatal diabetes mellitus MONDO:0016391; diabetes mellitus MONDO:0005015
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- thiamine-responsive megaloblastic anemia syndrome MONDO:0009575
- OMIM
- 603941
- Clinvar variants
- Variants in SLC19A2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Red cell disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Additional findings_Paediatric
- Prepair 1000+
- Monogenic Diabetes
- Mendeliome
- IBMDx study
- Bone Marrow Failure
- BabyScreen+ newborn screening
- Mitochondrial disease
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Maturity-onset Diabetes of the Young
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc19a2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SLC19A2 were changed from Thiamine-responsive megaloblastic anemia syndrome; MEGALOBLASTIC ANEMIA, THIAMINE-RESPONSIVE, WITH DIABETES MELLITUS AND SENSORINEURAL DEAFNESS ROGERS SYNDROME to thiamine-responsive megaloblastic anemia syndrome MONDO:0009575
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SLC19A2 were set to 26549656; 26839896
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SLC19A2 was added gene: SLC19A2 was added to Monogenic diabetes. Sources: UKGTN,Expert Review Green Mode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC19A2 were set to 26549656; 26839896 Phenotypes for gene: SLC19A2 were set to Thiamine-responsive megaloblastic anemia syndrome; MEGALOBLASTIC ANEMIA, THIAMINE-RESPONSIVE, WITH DIABETES MELLITUS AND SENSORINEURAL DEAFNESS ROGERS SYNDROME