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Hearing loss

Gene: SLC19A2

Red List (low evidence)

SLC19A2 (solute carrier family 19 member 2)
EnsemblGeneIds (GRCh38): ENSG00000117479
EnsemblGeneIds (GRCh37): ENSG00000117479
OMIM: 603941, Gene2Phenotype
SLC19A2 is in 19 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

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC19A2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert