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Mitochondrial disease

Gene: SLC19A2

Green List (high evidence)

SLC19A2 (solute carrier family 19 member 2)
EnsemblGeneIds (GRCh38): ENSG00000117479
EnsemblGeneIds (GRCh37): ENSG00000117479
OMIM: 603941, Gene2Phenotype
SLC19A2 is in 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Over 5 unrelated families reported. Diabetes mellitus and deafness are part of the phenotype.
Created: 15 Sep 2020, 3:32 a.m. | Last Modified: 15 Sep 2020, 3:32 a.m.
Panel Version: 0.4431

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270

Publications

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC19A2 was added gene: SLC19A2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC19A2 was set to Unknown