Optic Atrophy
Gene: SLC52A2
SLC52A2 (solute carrier family 52 member 2)
EnsemblGeneIds (GRCh38): ENSG00000185803
EnsemblGeneIds (GRCh37): ENSG00000185803
OMIM: 607882, Gene2Phenotype
SLC52A2 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000185803
EnsemblGeneIds (GRCh37): ENSG00000185803
OMIM: 607882, Gene2Phenotype
SLC52A2 is in 17 panels
1 review
Elena Savva (Victorian Clinical Genetics Services)
PMID: 22864630 - 1 child with optic atrophy. She has biallelic chet missense, functional studies confirm a loss of function consequence.
PMID: 23243084 - reported by PanelApp UK but no patient observed with optic atrophy
PMID: 29961509 - 1 family (two siblings) with optic atrophy and a homozygous missense.
PMID: 30377535 - Described optic atrophy as a "typical" common feature of riboflavin transporter deficiency
PMID: 29287867 - A Iranian family (3 sibs) with a homozygous missense and optic atrophy
Sources: Expert ReviewCreated: 15 Apr 2020, 12:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Brown-Vialetto-Van Laere syndrome 2
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Brown-Vialetto-Van Laere syndrome 2
- 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
15 Apr 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc52a2 has been classified as Green List (High Evidence).
15 Apr 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc52a2 has been classified as Green List (High Evidence).
15 Apr 2020, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Elena Savva (Victorian Clinical Genetics Services)gene: SLC52A2 was added gene: SLC52A2 was added to Optic Atrophy. Sources: Expert Review Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC52A2 were set to PMID: 22864630; 29961509; 30377535; 29287867 Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2 Review for gene: SLC52A2 was set to GREEN