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  3. SLC19A3
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Hereditary Spastic Paraplegia - paediatric

Gene: SLC19A3

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Cannot find any evidence that spastic paraplegia is a prominent feature of this condition.
Created: 19 Apr 2020, 10:52 a.m. | Last Modified: 19 Apr 2020, 10:52 a.m.
Panel Version: 0.73

Phenotypes
Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) MIM#607483

Created: 19 Apr 2020, 10:52 a.m.
Last Modified: 19 Apr 2020, 10:52 a.m.
Panel version: 0.73

History Filter Activity

13 Mar 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc19a3 has been classified as Red List (Low Evidence).

13 Mar 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC19A3 were changed from Biotin-thiamine-responsive basal ganglia disease to Biotin-thiamine-responsive basal ganglia disease, MIM#607483

31 Dec 2019, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SLC19A3 was added gene: SLC19A3 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital Mode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC19A3 were set to Biotin-thiamine-responsive basal ganglia disease