Hereditary Neuropathy - complex
Gene: SLC52A3EnsemblGeneIds (GRCh38): ENSG00000101276
EnsemblGeneIds (GRCh37): ENSG00000101276
OMIM: 613350, Gene2Phenotype
SLC52A3 is in 15 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Established gene-disease association with neuropathy a feature of the condition.
PMID: 20206331
3 unrelated individuals with a diagnosis of BVVLS type 1 and the presence of neuropathy as a phenotype.
Deifinitive classification by the ClinGen Hearing Loss Working Group (2019) with multiple reported probands with neuropathy.Created: 9 Aug 2023, 4:30 a.m. | Last Modified: 9 Aug 2023, 4:30 a.m.
Panel Version: 0.237
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Brown-Vialetto-Van Laere syndrome 1 (MIM#211530)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Brown-Vialetto-Van Laere syndrome 1 (MIM#211530)
- dHMN
- Brown-Vialetto-Van Laere syndrome 1
- Fazio-Londe disease
- 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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc52a3 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SLC52A3 were changed from dHMN; Brown-Vialetto-Van Laere syndrome 1; Fazio-Londe disease to Brown-Vialetto-Van Laere syndrome 1 (MIM#211530); dHMN; Brown-Vialetto-Van Laere syndrome 1; Fazio-Londe disease
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SLC52A3 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: SLC52A3 was added gene: SLC52A3 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC52A3 were set to dHMN; Brown-Vialetto-Van Laere syndrome 1; Fazio-Londe disease