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Prepair 1000+

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

Cassandra Muller (Victorian Clinical Genetics Services)

Green List (high evidence)

Established gene-disease association.Childhood onset, multi-system disorder.
Created: 5 Mar 2025, 5:17 a.m. | Last Modified: 5 Mar 2025, 5:17 a.m.
Panel Version: 1.1566

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Brown-Vialetto-Van Laere syndrome 1, 211530 (3)

Publications

History Filter Activity

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Brown-Vialetto-Van Laere syndrome 1, 211530 (3) for gene: SLC52A3

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC52A3 was added gene: SLC52A3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC52A3 were set to Brown-Vialetto-Van Laere syndrome 1, 211530 (3)