Monogenic hearing loss
Gene: SLC19A2EnsemblGeneIds (GRCh38): ENSG00000117479
EnsemblGeneIds (GRCh37): ENSG00000117479
OMIM: 603941, Gene2Phenotype
SLC19A2 is in 16 panels
1 review
Jun Shen (Harvard Medical School)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#249270:Thiamine-responsive megaloblastic anemia syndrome[Short stature (in some patients); Sensorineural deafness; Optic atrophy (in some patients)Maculopathy (uncommon)Cone-rod dystrophy (uncommon)Retinal degeneration (in some patients)Visual loss (in some patients)Nystagmus (in some patients); Congenital heart defects (in some patients)Atrial septal defect (uncommon)Ventricular septal defect (in some patients)Conduction defects (in some patients)Arrhythmias (in some patients)Cardiomyopathy (uncommon); Situs inversus (uncommon); Gastroesophageal reflux (uncommon); Cryptorchidism (uncommon); Developmental delay (uncommon)Seizures (uncommon)Stroke (uncommon)Ataxia (uncommon); Diabetes mellitus; Megaloblastic anemiaSideroblastic anemiaThrombocytopenia; Serum thiamine is normal]
Publications
Details
- Sources
-
- Expert
- OMIM
- 603941
- Clinvar variants
- Variants in SLC19A2
- Penetrance
- Complete
- Panels with this gene
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- 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
Added New Source
Ellen McDonagh (Genomics England Curator)SLC19A2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert