Hereditary Neuropathy - complex
Gene: SLC52A2EnsemblGeneIds (GRCh38): ENSG00000185803
EnsemblGeneIds (GRCh37): ENSG00000185803
OMIM: 607882, Gene2Phenotype
SLC52A2 is in 17 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Well established gene-disease association with neuropathy as a common feature.
ClinGen Hearing Loss Working Group (2019) classified the gene as definitive with neuropathy identified in >4 reported probands.Created: 9 Aug 2023, 3:35 a.m. | Last Modified: 9 Aug 2023, 3:35 a.m.
Panel Version: 0.237
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Brown-Vialetto-van Laere syndrome 2 (BVVLS2) (MONDO:0013867)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Brown-Vialetto-van Laere syndrome 2 (BVVLS2) (MONDO:0013867)
- OMIM
- 607882
- Clinvar variants
- Variants in SLC52A2
- 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
- Optic Atrophy
- BabyScreen+ newborn screening
- Mitochondrial disease
- Auditory Neuropathy
- Fatty Acid Oxidation Defects
- Motor Neurone Disease
- Fetal anomalies
- Central Hypoventilation
- Mendeliome
- Prepair 500+
- Ataxia - paediatric
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc52a2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SLC52A2 were changed from Brown-Vialetto-Van Laere syndrome 2 to Brown-Vialetto-van Laere syndrome 2 (BVVLS2) (MONDO:0013867)
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SLC52A2 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: SLC52A2 was added gene: SLC52A2 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2