SLC52A3

solute carrier family 52 member 3
OMIM: 613350, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Red SLC52A3 in Arthrogryposis Level 2: Neurology Version 10.5 Latest signed off version: v10.0 (6 May 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list
Red SLC52A3 in Adult onset neurodegenerative disorder Level 2: Neurology Version 9.1 Latest signed off version: v9.0 (6 May 2026) Component of the following Super Panels: Adult-onset neurological disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Fazio-Londe disease Brown-Vialetto-Van Laere syndrome 1
Green SLC52A3 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.645	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Brown-Vialetto-Van Laere syndrome 1 211530 Fazio-Londe disease 211500
Green SLC52A3 in Likely inborn error of metabolism Level 2: Metabolic Version 9.4 Latest signed off version: v9.0 (6 May 2026) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Brown-Vialetto-Van Laere syndrome 1, OMIM:211530 Brown-Vialetto-van Laere syndrome 1, MONDO:0024537 ?Fazio-Londe disease, OMIM:211500 riboflavin transporter deficiency, MONDO:0008891
Red SLC52A3 in Possible mitochondrial disorder - nuclear genes Level 2: Mitochondrial Version 5.4 Latest signed off version: v5.0 (6 May 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Phenotypes Brown-Vialetto-Van Laere syndrome 1, 211530
Red SLC52A3 in Fetal anomalies Level 2: Fetal (including NIPD) Version 7.7 Latest signed off version: v7.0 (6 May 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes BROWN-VIALETTO-VAN LAERE SYNDROME
Green SLC52A3 in Amyotrophic lateral sclerosis/motor neuron disease Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.74	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Brown-Vialetto-Van Laere syndrome 1 Fazio-Londe disease
Green SLC52A3 in Paediatric motor neuronopathies Level 2: Neurology Version 3.14 Latest signed off version: v3.13 (6 May 2026) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Phenotypes Brown-Vialetto-Van Laere syndrome 1, OMIM:211530
Green SLC52A3 in DDG2P Version 7.1 Latest signed off version: v7.0 (6 May 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BROWN-VIALETTO-VAN LAERE SYNDROME 211530
Green SLC52A3 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.508	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH Expert Review Green Expert list Phenotypes dHMN Brown-Vialetto-Van Laere syndrome 1 Fazio-Londe disease
Green SLC52A3 in Monogenic hearing loss Level 2: Audiology Version 6.10 Latest signed off version: v6.0 (6 May 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Brown-Vialetto-Van Laere syndrome 1, OMIM:211530 Tags treatable
Red SLC52A3 in Intellectual disability Level 2: Developmental disorders Version 10.17 Latest signed off version: v10.0 (6 May 2026) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Brown-Vialetto-Van Laere syndrome 1, 211530
Green SLC52A3 in Mitochondrial disorders Level 2: Mitochondrial Version 10.4 Latest signed off version: v10.0 (6 May 2026) Component of the following Super Panels: Childhood onset leukodystrophy	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Brown-Vialetto-Van Laere syndrome 1, OMIM:211530 Brown-Vialetto-van Laere syndrome 1, MONDO:0024537
Green SLC52A3 in Hereditary neuropathy or pain disorder Level 2: Neurology Version 8.1 Latest signed off version: v8.0 (6 May 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green London North GLH NHS GMS NHS GMS London North GLH Phenotypes Fazio-Londe disease dHMN Brown-Vialetto-Van Laere syndrome 1
Red SLC52A3 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 8.3 Latest signed off version: v8.0 (6 May 2026)	review	Not set	Sources Expert Review Red London North GLH