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Newborns main panel

Gene: SLC52A3

Green List (high evidence)
SLC52A3 (solute carrier family 52 member 3)
EnsemblGeneIds (GRCh38): ENSG00000101276
EnsemblGeneIds (GRCh37): ENSG00000101276
OMIM: 613350, Gene2Phenotype
SLC52A3 is in 15 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
SLC52A3 curation results (clinicalgenome.org)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

History Filter Activity

7 Feb 2024, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: SLC52A3 were changed from Brown-Vialetto-Van Laere syndrome 1 to Riboflavin transporter deficiency (Brown-Vialetto-Van Laere syndrome 1)

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Brown-Vialetto-Van Laere syndrome 1 for gene: SLC52A3

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Brown-Vialetto-Van Laere syndrome 1 for gene: SLC52A3

31 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to SLC52A3. Added phenotypes Brown-Vialetto-Van Laere syndrome 1 for gene: SLC52A3 Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to SLC52A3. Rating Changed from Green List (high evidence) to No List (delete)

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Brown-Vialetto-Van Laere syndrome 1 for gene: SLC52A3

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: SLC52A3 was added gene: SLC52A3 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal