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  3. SLC52A2
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Auditory Neuropathy

Gene: SLC52A2

Green List (high evidence)
SLC52A2 (solute carrier family 52 member 2)
EnsemblGeneIds (GRCh38): ENSG00000185803
EnsemblGeneIds (GRCh37): ENSG00000185803
OMIM: 607882, Gene2Phenotype
SLC52A2 is in 17 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Hearing loss is a prominent feature in this condition and is due to auditory neuropathy spectrum disorder.
Sources: Expert list
Created: 13 Nov 2020, 3:50 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Brown-Vialetto-Van Laere syndrome 2 MIM#614707; Syndromic auditory neuropathy spectrum disorder

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 13 Nov 2020, 3:50 a.m.

Panel version: 0.9

History Filter Activity

13 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: slc52a2 has been classified as Green List (High Evidence).

13 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: slc52a2 has been classified as Green List (High Evidence).

13 Nov 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SLC52A2 was added gene: SLC52A2 was added to Auditory Neuropathy. Sources: Expert list Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC52A2 were set to 26918385; 26092362 Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2 MIM#614707; Syndromic auditory neuropathy spectrum disorder Review for gene: SLC52A2 was set to GREEN