SLC52A2

solute carrier family 52 member 2
OMIM: 607882, ClinGen, DECIPHER

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green SLC52A2 in Motor Neurone Disease Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green
Green SLC52A2 in Central Hypoventilation Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Brown-Vialetto-Van Laere syndrome 2 614707
Green SLC52A2 in Fatty Acid Oxidation Defects Level 2: Metabolic disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Brown-Vialetto-Van Laere syndrome 2, MIM# 614707
Green SLC52A2 in Mendeliome Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Brown-Vialetto-Van Laere syndrome 2, MIM# 614707
Green SLC52A2 in Optic Atrophy Level 2: Ophthalmological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Brown-Vialetto-Van Laere syndrome 2
Green SLC52A2 in Mitochondrial disease Level 2: Metabolic disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Brown-Vialetto-Van Laere syndrome 2 MIM#614707
Green SLC52A2 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Expert list Phenotypes Brown-Vialetto-Van Laere syndrome 2, MIM# 614707
Green SLC52A2 in Ataxia Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Bwon-Vialetto-Van Laere syndrome 2, 614707
Green SLC52A2 in Hereditary Neuropathy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Brown-Vialetto-van Laere syndrome 2 (BVVLS2) (MONDO:0013867)
Green SLC52A2 in Rhabdomyolysis and Metabolic Myopathy Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Brown-Vialetto-van Laere syndrome 2 MONDO:0013867
Green SLC52A2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Brown-Vialetto-Van Laere syndrome 2, 614707 (3)
Red SLC52A2 in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Brown-Vialetto-Van Laere syndrome 2 (MIM#614707)
Green SLC52A2 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Brown-Vialetto-Van Laere syndrome 2, MIM# 614707
Green SLC52A2 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BeginNGS Phenotypes Brown-Vialetto-Van Laere syndrome 2, MIM# 614707 Tags treatable metabolic
Green SLC52A2 in Prepair 500+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Brown-Vialetto-Van Laere syndrome 2, MIM# 614707
Green SLC52A2 in Vitamin metabolism disorders Level 2: Metabolic disorders Version 2.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Brown-Vialetto-van Laere syndrome 2 MONDO:0013867 Disorders of riboflavin metabolism