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Intellectual disability syndromic and non-syndromic

Gene: SLC19A3

Green List (high evidence)

SLC19A3 (solute carrier family 19 member 3)
EnsemblGeneIds (GRCh38): ENSG00000135917
EnsemblGeneIds (GRCh37): ENSG00000135917
OMIM: 606152, Gene2Phenotype
SLC19A3 is in 15 panels

1 review

Jane Lin (The Alfred Hospital)

Green List (high evidence)

Rare disorder of thiamine metabolism and transport. Has well characterised gene-phenotype link for THMD2 in more than 3 families (multiple publications, in different subpopulations). Many CNS related symptoms in this disorder, for example confusion, seizures, ataxia, dystonia, supranuclear facial palsy, external ophthalmoplegia, and dysphagia. ID has been described as a sequela in many cases.
Created: 21 May 2024, 2:03 a.m. | Last Modified: 21 May 2024, 2:07 a.m.
Panel Version: 0.5878

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
# 607483 BASAL GANGLIA DISEASE, BIOTIN-THIAMINE RESPONSIVE (BBTGD), THIAMINE METABOLISM DYSFUNCTION SYNDROME 2

Publications

Details

History Filter Activity

21 May 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc19a3 has been classified as Green List (High Evidence).

21 May 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC19A3 were set to

21 May 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC19A3 were changed from to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483

21 May 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SLC19A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC19A3 was added gene: SLC19A3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC19A3 was set to Unknown