Genomics England

SLC52A3

solute carrier family 52 member 3

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes BROWN-VIALETTO-VAN LAERE SYNDROME 211530
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fazio-Londe disease, dHMN, Brown-Vialetto-Van Laere syndrome 1
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	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
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 10.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Brown-Vialetto-Van Laere syndrome 1, OMIM:211530, Brown-Vialetto-van Laere syndrome 1, MONDO:0024537
Green in Monogenic hearing loss Component of the following Super Panels: - Paediatric disorders R-numbers: R67 Signed-off version 6.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Brown-Vialetto-Van Laere syndrome 1, OMIM:211530
Green in Paediatric motor neuronopathies Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders Signed-off version 3.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Brown-Vialetto-Van Laere syndrome 1, OMIM:211530