Deafness_IsolatedAndComplex
Gene: SLC52A3EnsemblGeneIds (GRCh38): ENSG00000101276
EnsemblGeneIds (GRCh37): ENSG00000101276
OMIM: 613350, Gene2Phenotype
SLC52A3 is in 15 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Hearing loss is a prominent feature of the condition, and has been confirmed to be due to auditory neuropathy spectrum disorder in at least 4 cases.
Sources: LiteratureCreated: 13 Nov 2020, 4:11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Brown-Vialetto-Van Laere syndrome 1 MIM#211530; Syndromic auditory neuropathy spectrum disorder
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Literature
- Phenotypes
-
- Brown-Vialetto-Van Laere syndrome 1 MIM#211530
- OMIM
- 613350
- Clinvar variants
- Variants in SLC52A3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Vitamin metabolism disorders
- Deafness_IsolatedAndComplex
- Rhabdomyolysis and Metabolic Myopathy
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Hereditary Neuropathy - complex
- BabyScreen+ newborn screening
- Mitochondrial disease
- Auditory Neuropathy
- Fatty Acid Oxidation Defects
- Motor Neurone Disease
- Fetal anomalies
- Central Hypoventilation
- Mendeliome
- Prepair 500+
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: slc52a3 has been classified as Green List (High Evidence).
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: SLC52A3 were set to
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: slc52a3 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: slc52a3 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: SLC52A3 was added gene: SLC52A3 was added to Deafness_IsolatedAndComplex. Sources: Literature 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 MIM#211530