SLC52A3

solute carrier family 52 member 3
OMIM: 613350, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green SLC52A3 in Motor Neurone Disease Level 2: Neurology and neurodevelopmental disorders Version 1.27 Component of the following Super Panels: Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amytrophic Lateral Sclerosis (ALS) Brown-Vialetto-van Laere syndrome 1 (MIM# 211530)
Green SLC52A3 in Central Hypoventilation Level 2: Neurology and neurodevelopmental disorders Version 1.5	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Brown-Vialetto-Van Laere syndrome 1, MIM# 211530
Green SLC52A3 in Fatty Acid Oxidation Defects Level 2: Metabolic disorders Version 1.14 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Brown-Vialetto-Van Laere syndrome 1, MIM# 211530
Green SLC52A3 in Mendeliome Version 1.2374	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Brown-Vialetto-Van Laere syndrome 1, MIM# 211530
Green SLC52A3 in Mitochondrial disease Level 2: Metabolic disorders Version 0.970 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Brown-Vialetto-Van Laere syndrome 1 MIM#211530
Green SLC52A3 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.213	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes Brown-Vialetto-Van Laere syndrome 1 MIM#211530
Green SLC52A3 in Hereditary Neuropathy - complex Level 2: Neurology and neurodevelopmental disorders Version 1.19 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	review	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
Green SLC52A3 in Rhabdomyolysis and Metabolic Myopathy Level 2: Neurology and neurodevelopmental disorders Version 1.20 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Brown-Vialetto-van Laere syndrome 1 MONDO:0024537
Green SLC52A3 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Brown-Vialetto-Van Laere syndrome 1, 211530 (3)
Green SLC52A3 in Auditory Neuropathy Level 2: Neurology and neurodevelopmental disorders Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Brown-Vialetto-Van Laere syndrome 1 MIM#211530 Syndromic auditory neuropathy spectrum disorder
Red SLC52A3 in Fetal anomalies Version 1.314	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Brown-Vialetto-Van Laere syndrome 1 (MIM#211530)
Green SLC52A3 in Prepair 1000+ Level 2: Screening Version 1.1586	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Brown-Vialetto-Van Laere syndrome 1, 211530 (3)
Green SLC52A3 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BeginNGS Phenotypes Brown-Vialetto-Van Laere syndrome 1, MIM# 211530 Tags treatable metabolic
Green SLC52A3 in Prepair 500+ Level 2: Screening Version 1.5	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Brown-Vialetto-Van Laere syndrome 1, 211530 (3)
Green SLC52A3 in Vitamin metabolism disorders Level 2: Metabolic disorders Version 1.7 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of riboflavin metabolism Brown-Vialetto-van Laere syndrome 1 MONDO:0024537