IBMDx study
Gene: SLC19A2
SLC19A2 (solute carrier family 19 member 2)
EnsemblGeneIds (GRCh38): ENSG00000117479
EnsemblGeneIds (GRCh37): ENSG00000117479
OMIM: 603941, Gene2Phenotype
SLC19A2 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000117479
EnsemblGeneIds (GRCh37): ENSG00000117479
OMIM: 603941, Gene2Phenotype
SLC19A2 is in 14 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Over 5 unrelated families reported. Diabetes mellitus and deafness are part of the phenotype.Created: 15 Sep 2020, 3:29 a.m. | Last Modified: 15 Sep 2020, 3:29 a.m.
Panel Version: 0.133
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- IBMDx Study
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270
- OMIM
- 603941
- Clinvar variants
- Variants in SLC19A2
- Penetrance
- None
- 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
10 Dec 2021, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SLC19A2 was added gene: SLC19A2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: SLC19A2 was set to Unknown Phenotypes for gene: SLC19A2 were set to Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270