SLC52A3

solute carrier family 52 member 3
OMIM: 613350, Gene2Phenotype

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Green SLC52A3 in Other rare neuromuscular disorders Version 19.202 Latest signed off version: v19.1 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Brown-Vialetto-Van Laere syndrome 1, 211530
Red SLC52A3 in Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 5.22 Latest signed off version: v5.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list
Red SLC52A3 in Adult onset neurodegenerative disorder Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	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 1.617	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 - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Brown-Vialetto-Van Laere syndrome 1 211530 Fazio-Londe disease 211500
Red SLC52A3 in Possible mitochondrial disorder - nuclear genes Version 3.105 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Phenotypes Brown-Vialetto-Van Laere syndrome 1, 211530
Red SLC52A3 in Fetal anomalies Version 3.155 Latest signed off version: v3.0 (22 Mar 2023)	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 1.69	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 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 3.6 Latest signed off version: v3.3 (22 Mar 2023) 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 3.87 Latest signed off version: v3.1 (22 Mar 2023) 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 1.477	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 3: Non-syndromic hearing loss Level 2: Hearing and ear disorders Version 4.36 Latest signed off version: v4.0 (22 Mar 2023) 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 - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.532 Latest signed off version: v5.0 (22 Mar 2023) 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
Amber SLC52A3 in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 4.168 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Brown-Vialetto-Van Laere syndrome 1, OMIM:211530 Brown-Vialetto-van Laere syndrome 1, MONDO:0024537 Tags Q4_23_promote_green Q4_23_MOI
Green SLC52A3 in Hereditary neuropathy or pain disorder Version 3.94 Latest signed off version: v3.24 (15 May 2023)	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 Version 3.75 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red London North GLH
Green SLC52A3 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes ?Fazio-Londe disease, 211500 Brown-Vialetto-Van Laere syndrome 1, 211530