Maturity-onset Diabetes of the Young
Gene: SLC19A2EnsemblGeneIds (GRCh38): ENSG00000117479
EnsemblGeneIds (GRCh37): ENSG00000117479
OMIM: 603941, Gene2Phenotype
SLC19A2 is in 14 panels
1 review
Hali Van Niel (University of Melbourne)
1 patient with clinically established MODY with SLC19A2 variant
Sources: OtherCreated: 27 Feb 2024, 4:38 a.m.
Mode of inheritance
Unknown
Phenotypes
maturity-onset diabetes of the young MONDO:0018911
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- maturity-onset diabetes of the young MONDO:0018911
- 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
Bryony Thompson (Royal Melbourne Hospital)Gene: slc19a2 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: slc19a2 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Hali Van Niel (University of Melbourne)gene: SLC19A2 was added gene: SLC19A2 was added to Maturity-onset Diabetes of the Young. Sources: Other Mode of inheritance for gene: SLC19A2 was set to Unknown Publications for gene: SLC19A2 were set to 27185633 Phenotypes for gene: SLC19A2 were set to maturity-onset diabetes of the young MONDO:0018911 Review for gene: SLC19A2 was set to RED