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  3. SLC19A2
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Deafness_IsolatedAndComplex

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, sensorineural deafness is part of the phenotype.
Sources: Expert Review
Created: 15 Sep 2020, 3:34 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270

Publications

Created: 15 Sep 2020, 3:34 a.m.

Panel version: 0.388

History Filter Activity

15 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc19a2 has been classified as Green List (High Evidence).

15 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc19a2 has been classified as Green List (High Evidence).

15 Sep 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC19A2 was added gene: SLC19A2 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Mode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC19A2 were set to 10391221; 10978358 Phenotypes for gene: SLC19A2 were set to Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270 Review for gene: SLC19A2 was set to GREEN