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Fetal anomalies

Gene: SLC52A3

Red List (low evidence)

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

1 review

Daniel Flanagan (Victorian Clinical Genetics Services)

Red List (low evidence)

Biallelic SLC52A3 variant cause Brown-Vialetto-Van Laere syndrome, a neurologic disorder characterized by sensorineural hearing loss and a variety of cranial nerve palsies. The onset of the disease is usually in the second decade, but earlier and later onset have been reported. Multiple families reported.
Created: 13 Feb 2022, 9:41 p.m. | Last Modified: 13 Feb 2022, 9:41 p.m.
Panel Version: 0.3372

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Brown-Vialetto-Van Laere syndrome 1 (MIM#211530)

Publications

History Filter Activity

14 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc52a3 has been classified as Red List (Low Evidence).

14 Feb 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC52A3 were changed from BROWN-VIALETTO-VAN LAERE SYNDROME to Brown-Vialetto-Van Laere syndrome 1 (MIM#211530)

14 Feb 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC52A3 were set to

24 Oct 2021, Gel status: 1

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 Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp 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